1389:
251:
228:
20:
125:
150:
1177:
502:
257:
156:
1360:
1319:; however, amino acid deletions have also been identified. A loss of function of the Best1 chloride channel could likely explain some of the most common issues associated with BVMD: an inability to regulate intracellular ion concentrations and regulate overall cell volume. To date, over 100 disease-causing mutations have been related to BVMD as well as a number of other degenerative retinal diseases.
1283:
1331:(AVMD) consists of lesions similar to BVMD on the retina. However, the cause is not as definitive as BVMD. The inability to diagnosis AVMD via genetic testing makes differentiating between AVMD and pattern dystrophy difficult. It is also unknown whether there is truly a clinical difference between AVMD caused by BEST1 mutations and AVMD caused by
1201:
amino acids. Both the structure and the composition of the pore help to ensure that only small anions are able to move completely through the channel. The channel acts as two funnels working together in tandem. It begins with a semi-selective, narrow entryway for anions, and then opens to a larger,
1314:
form of macular dystrophy, expressivity varies within and between affected families although the overwhelming majority of affected families come from northern
European descent. Typically, people with this condition experience five progressively worsening stages, though timing and severity varies
1202:
positively charged area which then leads to a narrower pathway that further limits the size of anions passing through the pore. A calcium clasp acts as a belting mechanism around the larger, middle section of the channel. Calcium ions control the opening and closing of the channel due to
1399:
was first described in relation to the BEST1 gene in 2009 and was found to be associated with four different missense mutations in the BEST1 gene in people. All affected individuals experience a diminished response to light within their retina and may have changes in pigmentation, pale
2073:
Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C (July 1998). "Identification of the gene responsible for Best macular dystrophy".
2254:
Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K (June 1999). "Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies".
1180:
Calcium-activated chloride channel bestrophin-1 (BEST1), triple mutant: I76A, F80A, F84A; in complex with an Fab antibody fragment, chloride, and calcium. Subunit structure of
Biological Assembly 1 viewed via side edge-centered orientation. From RCSB
23:
Calcium-activated chloride channel bestrophin-1 (BEST1), triple mutant: I76A, F80A, F84A; in complex with an Fab antibody fragment, chloride, and calcium. Secondary structure of biological assembly 1 viewed via front C5 axis orientation. From RCSB
1343:
Autosomal recessive bestrophinopathy (ARB) was first identified in 2008. People with ARB demonstrate a decrease in vision during the first ten years of life. Parents and family members typically show no abnormalities as the disease is
2360:
Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM (May 2000). "Allelic variation in the VMD2 gene in best disease and age-related macular degeneration".
2186:
Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R (May 1999). "Bestrophin gene mutations in patients with Best vitelliform macular dystrophy".
2216:
Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C (May 1999). "The mutation spectrum of the bestrophin protein--functional implications".
2382:
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH (April 2000).
1992:
Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E, Gustavson KH, Wadelius C, Holmgren G (September 1992). "The gene for Best's macular dystrophy is located at 11q13 in a
Swedish family".
2471:
Marchant D, Gogat K, Boutboul S, Péquignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M (March 2001).
1092:
The bestrophins are an ancient family of structurally conserved proteins that have been identified in nearly every organism studied from bacteria to humans. In humans, they function as calcium-activated
1352:. In addition, other complications have been observed. Vision decreases slowly over time, although rates of decline vary. Mutations causing ARB range from missense mutations to single base mutations in
1875:
Olaf S, Müller C, Reichhart N, Tamm ER, Gomez NM (2014). "The Role of
Bestrophin-1 in Intracellular Ca Signaling". In Ash J, Grimm C, Hollyfield JG, Anderson RE, LaVail NM, Rickman CB (eds.).
2292:
Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M (February 2000). "A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case".
2385:"Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration"
1784:
Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT (April 2008). "Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies". review.
3541:
4451:
1310:
of the retinal pigment epithelium becomes apparent. A mutation in the BEST1 gene leads to a loss of channel function and eventually retinal degeneration. Although BVMD is an
4186:
3438:
3371:
2325:, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM (April 2000).
264:
163:
1681:
Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (December 2008).
1134:
2515:
Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S (June 2001). "Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene".
2420:"Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium"
1411:
All of the diseases above do not have any known treatments or cures. However, as of 2017, researchers are currently working on discovering treatments with
1185:
The structure of Best1 consists of five identical subunits that each span the membrane four times and form a continuous, funnel-shaped pore via the second
2725:
745:
86:
726:
1086:
4382:
4365:
4360:
4355:
4350:
1412:
4387:
3485:
2757:
2153:"Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)"
1294:(BVMD) is one of the most common Best1-associated diseases. BVMD typically becomes noticeable in children and is represented by the buildup of
1286:
Lipofuscin (lipid residual from lysosome digestion) in a human neuron. Representative of what may occur in the eye in people affected by BMVD.
1118:
The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved
4988:
1892:
1760:
1491:
1473:
4439:
3620:
1963:
Nordström S, Barkman Y (February 1977). "Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden".
1214:
The location of expression of the BEST1 gene is essential for protein functioning and mislocalization is often connected to a variety of
250:
4337:
3358:
2774:
1348:, indicating that both alleles of the BEST1 gene must be mutated. Vitelliform lesions are often present and some cases involve cystoid
4123:
2704:
1938:
1921:
993:
227:
1000:
1388:
1512:
4716:
3715:
3493:
2809:
1460:
1439:
1226:
4738:
1531:
Kunzelmann K (September 2015). "TMEM16, LRRC8A, bestrophin: chloride channels controlled by Ca(2+) and cell volume". review.
1372:
Autosomal dominant vitreoretinochoroidopathy was first identified in 1982 and presents itself in both eyes with decreases in
149:
124:
1456:
2710:
4947:
2858:
1328:
1291:
1082:
1435:
4313:
3225:
66:
4588:
1265:
Best1 primarily functions as an intracellular calcium-activated chloride channel on the cellular membrane that is not
1229:
near the cellular membrane. There is also research to support that the Best1 protein is localized and produced in the
263:
162:
2766:
2750:
1237:
involved in protein and lipid synthesis). Best1 is typically expressed with other proteins also synthesized in the
1146:
1074:
1642:"VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family"
256:
155:
4942:
3152:
1266:
4932:
3193:
3069:
790:
74:
1879:. review. Advances in Experimental Medicine and Biology. Vol. 801. New York: Springer. pp. 113–119.
1097:
channels, each of which has a unique tissue distribution throughout the body. Specifically, the BEST1 gene on
4937:
1154:
771:
1085:(BVMD). Mutations in the BEST1 gene have been identified as the primary cause for at least five different
19:
4968:
2960:
2947:
2934:
2914:
2901:
2866:
1257:
of chloride ions also supports the idea that Best1 is involved in forming calcium stores within the cell.
1743:
Strauss O, Neussert R, Müller C, Milenkovic VM (2012). "A potential cytosolic function of bestrophin-1".
1591:
Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, Marmorstein AD (January 2017).
4993:
2743:
1238:
1230:
1203:
1186:
1098:
138:
1335:
mutations. AVMD usually involves less vision loss than BVMD and cases do not usually run in families.
2841:
2565:
2431:
1396:
1345:
1311:
1218:
53:
2030:
Stöhr H, Marquardt A, Rivera A, Cooper PR, Nowak NJ, Shows TB, Gerhard DS, Weber BH (January 1998).
2735:
2716:
1176:
955:
951:
941:
933:
929:
925:
884:
880:
870:
862:
858:
854:
4308:
3184:
2831:
2540:
2503:
2474:"Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy"
2280:
2242:
2139:
2099:
2018:
1951:
1712:
98:
976:
937:
905:
866:
2418:
Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K (November 2000).
3346:
2679:
2636:
2593:
2532:
2495:
2459:
2406:
2370:
2348:
2322:
2309:
2272:
2234:
2204:
2174:
2131:
2111:
2091:
2061:
2010:
1980:
1943:
1898:
1888:
1857:
1801:
1766:
1756:
1704:
1663:
1622:
1548:
1373:
1316:
1206:
caused by calcium binding at the C-terminus directly following the last transmembrane domain.
1194:
501:
46:
4115:
3096:
2669:
2661:
2626:
2618:
2583:
2573:
2524:
2485:
2449:
2439:
2396:
2338:
2301:
2264:
2226:
2196:
2164:
2123:
2083:
2051:
2043:
2002:
1972:
1933:
1880:
1847:
1839:
1793:
1748:
1694:
1653:
1612:
1604:
1540:
1303:
1254:
343:
274:
218:
173:
94:
4651:
2791:
1363:
Cataract in human eye, potentially caused by autosomal dominant vitreoretinochoroidopathy.
318:
2032:"A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1"
1747:. review. Advances in Experimental Medicine and Biology. Vol. 723. pp. 603–10.
1193:
residues, including an invariant arg-phe-pro (RFP) motif. The pore is lined with various
2569:
2435:
1922:"VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies"
4447:
3134:
2674:
2649:
2631:
2606:
2006:
1976:
1852:
1827:
1617:
1592:
2588:
2553:
2305:
2056:
2031:
1359:
1161:
function as well as its calcium regulatory capabilities. Bestrophin-1 consists of 585
660:
655:
650:
645:
640:
635:
630:
625:
620:
615:
599:
594:
589:
584:
579:
574:
558:
553:
548:
543:
4982:
4401:
4074:
2729:
2554:"The vitelliform macular dystrophy protein defines a new family of chloride channels"
2454:
2419:
1699:
1682:
1608:
1405:
1353:
1349:
1307:
530:
2507:
2246:
2143:
2103:
1955:
1716:
1069:
The bestrophin family of proteins comprises four evolutionary related genes (BEST1,
78:
4754:
2544:
2284:
1242:
336:
115:
2151:
Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH (September 1998).
2022:
1269:. More recently Best1 has been shown to act as a volume-regulating anion channel.
2622:
1884:
1752:
102:
4684:
4679:
4674:
4669:
4556:
4395:
2770:
2127:
1496:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1478:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1190:
1158:
1150:
1127:
2558:
Proceedings of the
National Academy of Sciences of the United States of America
2528:
2424:
Proceedings of the
National Academy of Sciences of the United States of America
2343:
2326:
1797:
1544:
1282:
419:
4664:
4030:
3398:
3366:
2698:
1843:
1401:
1295:
1198:
1170:
1166:
1162:
1101:
encodes the
Bestrophin-1 protein in humans whose expression is highest in the
235:
132:
82:
4749:
4659:
2401:
2384:
1376:
due to excessive fluid and changes in eye retinal pigmentation. Early onset
1234:
690:
479:
357:
302:
289:
201:
188:
90:
2683:
2640:
2607:"Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation"
2597:
2578:
2536:
2499:
2463:
2444:
2410:
2374:
2352:
2313:
2276:
2238:
2208:
2200:
2169:
2152:
1947:
1902:
1861:
1805:
1770:
1708:
1667:
1658:
1641:
1626:
1552:
2665:
2327:"Mutation analysis of 3 genes in patients with Leber congenital amaurosis"
2268:
2230:
2178:
2135:
2095:
2065:
2014:
1040:
1035:
4762:
4110:
3089:
3084:
3079:
3074:
3006:
3001:
2650:"Regulation of bestrophin Cl channels by calcium: role of the C terminus"
1984:
1939:
10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N
1377:
1246:
1225:
of the retinal pigment epithelium. The protein is typically contained in
1078:
1024:
835:
816:
1683:"Novel MITF targets identified using a two-step DNA microarray strategy"
4889:
4646:
4482:
2983:
2978:
2973:
1222:
1056:
802:
757:
2047:
1221:
diseases. The BEST1 gene expresses the Best1 protein primarily in the
4566:
4561:
4295:
4290:
4236:
4231:
4047:
4035:
4025:
4020:
4008:
4003:
3998:
3885:
3880:
3875:
3767:
3703:
3698:
3693:
3688:
3683:
3678:
3673:
3608:
3603:
3593:
3588:
3583:
3534:
3529:
3519:
3514:
3391:
3386:
3381:
3376:
3282:
3277:
3272:
3262:
3257:
3247:
3242:
3172:
3167:
3162:
3157:
3060:
3055:
3050:
3045:
3033:
3028:
3023:
3018:
2927:
2894:
2889:
2884:
2879:
1299:
1215:
1123:
1102:
1008:
712:
1149:(RPE) of the eye. Within the RPE layer, it is mainly located on the
1145:
Bestrophin-1 is an integral membrane protein found primarily in the
2490:
2473:
1133:
BEST1 has been shown by two independent studies to be regulated by
4800:
4731:
4726:
4721:
4638:
4625:
4620:
4615:
4610:
4605:
4600:
4551:
4544:
4539:
4534:
4529:
4524:
4519:
4514:
4509:
4497:
4492:
4487:
4477:
4472:
4467:
4462:
4377:
4321:
4278:
4273:
4268:
4263:
4258:
4253:
4248:
4226:
4221:
4216:
4211:
4206:
4201:
4196:
4177:
4172:
4167:
4162:
4150:
4067:
4062:
4057:
4042:
3980:
3975:
3970:
3961:
3956:
3942:
3937:
3928:
3923:
3918:
3909:
3904:
3895:
3890:
3857:
3852:
3847:
3842:
3833:
3824:
3819:
3814:
3805:
3800:
3795:
3790:
3781:
3776:
3762:
3757:
3752:
3747:
3742:
3737:
3732:
3668:
3663:
3658:
3653:
3648:
3643:
3638:
3633:
3598:
3568:
3563:
3558:
3553:
3524:
3473:
3468:
3463:
3458:
3448:
3443:
3423:
3408:
3403:
3318:
3313:
3308:
3303:
3287:
3267:
3252:
3213:
3208:
3203:
3198:
3106:
3101:
2824:
2819:
2814:
2114:(July 1998). "New gene found for inherited macular degeneration".
1877:
Retinal
Degenerative Diseases: Mechanisms and Experimental Therapy
1387:
1358:
1332:
1281:
1250:
1175:
1070:
18:
675:
671:
4880:
4875:
4870:
4860:
4855:
4850:
4840:
4835:
4830:
4825:
4820:
4815:
4810:
4795:
4790:
4785:
4780:
4775:
4770:
4709:
4704:
4699:
4694:
4689:
4595:
4583:
4578:
4573:
4504:
4457:
4421:
4416:
4411:
4406:
4133:
3951:
3509:
2846:
2836:
2087:
1119:
1077:. This family was first identified in humans by linking a BEST1
1063:
70:
57:, ARB, BEST, BMD, RP50, TU15B, VMD2, Bestrophin 1, Best1V1Delta2
4910:
4095:
3341:
3129:
2786:
2739:
510:
4434:
4332:
3453:
3413:
2699:
GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
2648:
Xiao Q, Prussia A, Yu K, Cui YY, Hartzell HC (December 2008).
1094:
1126:
boundaries. Each of the four bestrophin genes has a unique
1640:
Esumi N, Kachi S, Campochiaro PA, Zack DJ (January 2007).
1306:
in which decreased activation of calcium channels in the
651:
detection of light stimulus involved in visual perception
549:
intracellular calcium activated chloride channel activity
326:
1392:
Fundus of patient with retinitis pigmentosa, mid stage
491:
2605:
Xiao Q, Yu K, Cui YY, Hartzell HC (September 2009).
2552:
Sun H, Tsunenari T, Yau KW, Nathans J (March 2002).
4923:
4747:
4636:
4432:
4330:
4306:
4108:
3714:
3619:
3484:
3357:
3224:
3183:
3145:
2857:
2802:
1302:in the eye. Diagnosis normally follows an abnormal
969:
924:
898:
853:
1452:
1450:
1448:
1431:
1429:
1427:
1526:
1524:
1522:
273:
172:
2363:Investigative Ophthalmology & Visual Science
1323:Adult-onset vitelliform macular dystrophy (AVMD)
1738:
1736:
1734:
1732:
1730:
1728:
1726:
1586:
1584:
1582:
16:Protein-coding gene in the species Homo sapiens
1580:
1578:
1576:
1574:
1572:
1570:
1568:
1566:
1564:
1562:
1457:GRCm38: Ensembl release 89: ENSMUSG00000037418
1135:Microphthalmia-associated transcription factor
554:bicarbonate transmembrane transporter activity
2751:
1821:
1819:
1817:
1815:
8:
1368:Autosomal dominant vitreoretinochoroidopathy
1315:greatly. BVMD is often caused by the single
1436:GRCh38: Ensembl release 89: ENSG00000167995
1157:structures indicate this protein's primary
4920:
4907:
4105:
4092:
3354:
3338:
3142:
3126:
2799:
2783:
2758:
2744:
2736:
2726:United States National Library of Medicine
1339:Autosomal recessive bestrophinopathy (ARB)
921:
850:
686:
526:
314:
213:
110:
2673:
2630:
2587:
2577:
2489:
2453:
2443:
2400:
2342:
2168:
2055:
1937:
1851:
1698:
1657:
1616:
1278:Best vitelliform macular dystrophy (BVMD)
2724:This article incorporates text from the
1507:
1505:
1920:White K, Marquardt A, Weber BH (2000).
1826:Xiao Q, Hartzell HC, Yu K (July 2010).
1423:
27:
278:
239:
234:
177:
136:
131:
7:
1687:Pigment Cell & Melanoma Research
1597:Progress in Retinal and Eye Research
1189:domain containing a high content of
454:vestibular membrane of cochlear duct
4124:Calcium-activated chloride channels
1646:The Journal of Biological Chemistry
1404:, fluid accumulation and decreased
1210:Tissue and subcellular distribution
1059:that, in humans, is encoded by the
626:regulation of calcium ion transport
3194:Amiloride-sensitive cation channel
2389:European Journal of Human Genetics
2007:10.1111/j.1399-0004.1992.tb03229.x
1977:10.1111/j.1601-5223.1977.tb01394.x
1593:"Bestrophin 1 and retinal disease"
1415:of the retinal pigment epithelium.
1073:, BEST3, and BEST4) that code for
966:
895:
826:
807:
781:
762:
736:
717:
636:transepithelial chloride transport
496:
414:
352:
331:
14:
2654:The Journal of General Physiology
2294:American Journal of Ophthalmology
1513:"Entrez Gene: BEST1 bestrophin 1"
1253:. Calcium ion involvement in the
1700:10.1111/j.1755-148X.2008.00505.x
1609:10.1016/j.preteyeres.2017.01.006
631:chloride transmembrane transport
500:
262:
255:
249:
226:
161:
154:
148:
123:
4717:Voltage-dependent anion channel
2810:Inositol trisphosphate receptor
1828:"Bestrophins and retinopathies"
4739:General bacterial porin family
1533:Trends in Biochemical Sciences
575:integral component of membrane
511:More reference expression data
480:More reference expression data
1:
2306:10.1016/S0002-9394(99)00327-X
1745:Retinal Degenerative Diseases
1329:vitelliform macular dystrophy
1292:vitelliform macular dystrophy
1173:are located within the cell.
1083:vitelliform macular dystrophy
247:
146:
4989:Genes on human chromosome 11
2623:10.1113/jphysiol.2009.176800
1885:10.1007/978-1-4614-3209-8_15
1753:10.1007/978-1-4614-0631-0_77
2128:10.1126/science.281.5373.31
1151:basolateral plasma membrane
616:ion transmembrane transport
590:basolateral plasma membrane
5010:
4158:Chloride Channel Accessory
2767:Membrane transport protein
2715:gene details page in the
2529:10.1076/opge.22.2.107.2226
2344:10.1001/archopht.118.4.538
1798:10.1152/physrev.00022.2007
1545:10.1016/j.tibs.2015.07.005
1147:retinal pigment epithelium
1075:integral membrane proteins
368:retinal pigment epithelium
4964:
4919:
4906:
4104:
4091:
3353:
3337:
3153:Epithelial sodium channel
3141:
3125:
2798:
2782:
2611:The Journal of Physiology
2331:Archives of Ophthalmology
1844:10.1007/s00424-010-0821-5
1492:"Mouse PubMed Reference:"
1474:"Human PubMed Reference:"
1384:Retinitis pigmentosa (RP)
1039:
1034:
1030:
1023:
1007:
988:
973:
948:
917:
902:
877:
846:
833:
829:
814:
810:
801:
788:
784:
769:
765:
756:
743:
739:
724:
720:
711:
696:
689:
685:
669:
559:identical protein binding
544:chloride channel activity
529:
525:
508:
499:
490:
477:
426:
417:
364:
355:
325:
317:
313:
296:
283:
246:
225:
216:
212:
195:
182:
145:
122:
113:
109:
64:
61:
51:
44:
39:
35:
30:
3070:Cation channels of sperm
2157:Human Molecular Genetics
994:Chr 11: 61.95 – 61.97 Mb
600:chloride channel complex
400:internal globus pallidus
376:inferior olivary nucleus
372:external globus pallidus
2402:10.1038/sj.ejhg.5200447
1155:Protein crystallization
2579:10.1073/pnas.052692999
2445:10.1073/pnas.220402097
2201:10.1006/geno.1999.5808
1659:10.1074/jbc.M609517200
1393:
1364:
1287:
1204:conformational changes
1182:
1066:(RPD ID - 5T5N/4RDQ).
1001:Chr 19: 9.96 – 9.98 Mb
25:
3146:Constitutively active
2666:10.1085/jgp.200810056
2269:10.1007/s004390050986
2231:10.1007/s004390050972
1786:Physiological Reviews
1413:stem cell transplants
1391:
1362:
1285:
1239:endoplasmic reticulum
1231:endoplasmic reticulum
1179:
661:bicarbonate transport
241:Chromosome 19 (mouse)
139:Chromosome 11 (human)
22:
2709:genome location and
2170:10.1093/hmg/7.9.1517
1397:Retinitis pigmentosa
1308:basolateral membrane
1130:of variable length.
1087:degenerative retinal
656:response to stimulus
4913:By gating mechanism
2717:UCSC Genome Browser
2570:2002PNAS...99.4008S
2517:Ophthalmic Genetics
2436:2000PNAS...9712758M
1346:autosomal recessive
430:seminiferous tubule
4440:TRP cation channel
4338:CNG cation channel
3621:Tandem pore domain
2832:Ryanodine receptor
2728:, which is in the
2617:(Pt 18): 4379–91.
1394:
1365:
1354:non-coding regions
1317:missense mutations
1312:autosomal dominant
1298:(lipid residuals)
1288:
1183:
791:ENSMUSG00000037418
621:chloride transport
609:Biological process
568:Cellular component
537:Molecular function
26:
4976:
4975:
4960:
4959:
4956:
4955:
4948:Stretch-activated
4925:Ion channel class
4902:
4901:
4898:
4897:
4087:
4086:
4083:
4082:
3359:Calcium-activated
3347:Potassium channel
3333:
3332:
3329:
3328:
3121:
3120:
3117:
3116:
2048:10.1101/gr.8.1.48
1995:Clinical Genetics
1894:978-1-4614-3209-8
1762:978-1-4614-0630-3
1380:are also likely.
1374:peripheral vision
1267:voltage-dependent
1050:
1049:
1046:
1045:
1019:
1018:
984:
983:
963:
962:
913:
912:
892:
891:
842:
841:
823:
822:
797:
796:
778:
777:
752:
751:
733:
732:
681:
680:
646:visual perception
521:
520:
517:
516:
486:
485:
473:
472:
411:
410:
309:
308:
208:
207:
103:BEST1 - orthologs
5001:
4921:
4908:
4116:Chloride channel
4106:
4093:
3486:Inward-rectifier
3355:
3339:
3143:
3127:
3097:Two-pore channel
2800:
2784:
2760:
2753:
2746:
2737:
2687:
2677:
2644:
2634:
2601:
2591:
2581:
2548:
2511:
2493:
2467:
2457:
2447:
2430:(23): 12758–63.
2414:
2404:
2378:
2356:
2346:
2323:Namperumalsamy P
2317:
2288:
2250:
2212:
2182:
2172:
2147:
2107:
2069:
2059:
2026:
1988:
1959:
1941:
1907:
1906:
1872:
1866:
1865:
1855:
1823:
1810:
1809:
1781:
1775:
1774:
1740:
1721:
1720:
1702:
1678:
1672:
1671:
1661:
1637:
1631:
1630:
1620:
1588:
1557:
1556:
1528:
1517:
1516:
1509:
1500:
1499:
1488:
1482:
1481:
1470:
1464:
1454:
1443:
1433:
1304:electrooculogram
1255:countertransport
1099:chromosome 11q13
1032:
1031:
1003:
996:
979:
967:
958:
922:
918:RefSeq (protein)
908:
896:
887:
851:
827:
808:
782:
763:
737:
718:
687:
527:
513:
504:
497:
482:
422:
420:Top expressed in
415:
360:
358:Top expressed in
353:
332:
315:
305:
292:
281:
266:
259:
253:
242:
230:
214:
204:
191:
180:
165:
158:
152:
141:
127:
111:
105:
56:
49:
28:
5009:
5008:
5004:
5003:
5002:
5000:
4999:
4998:
4979:
4978:
4977:
4972:
4952:
4915:
4894:
4743:
4642:
4632:
4428:
4326:
4302:
4100:
4079:
3993:
3870:
3727:
3710:
3615:
3579:
3549:
3505:
3497:
3480:
3434:
3349:
3325:
3298:
3237:
3220:
3179:
3137:
3113:
2996:
2968:
2955:
2942:
2922:
2909:
2874:
2853:
2794:
2792:Calcium channel
2778:
2764:
2695:
2690:
2647:
2604:
2551:
2514:
2470:
2417:
2381:
2359:
2320:
2291:
2253:
2215:
2185:
2150:
2110:
2076:Nature Genetics
2072:
2036:Genome Research
2029:
1991:
1962:
1919:
1915:
1913:Further reading
1910:
1895:
1874:
1873:
1869:
1832:Pflügers Archiv
1825:
1824:
1813:
1783:
1782:
1778:
1763:
1742:
1741:
1724:
1680:
1679:
1675:
1639:
1638:
1634:
1590:
1589:
1560:
1530:
1529:
1520:
1511:
1510:
1503:
1490:
1489:
1485:
1472:
1471:
1467:
1455:
1446:
1434:
1425:
1421:
1386:
1370:
1341:
1325:
1280:
1275:
1263:
1233:(intracellular
1212:
1143:
1116:
1111:
1041:View/Edit Mouse
1036:View/Edit Human
999:
992:
989:Location (UCSC)
975:
954:
950:
944:
940:
936:
932:
928:
904:
883:
879:
873:
869:
865:
861:
857:
772:ENSG00000167995
665:
604:
585:plasma membrane
563:
509:
478:
469:
464:
460:
458:proximal tubule
456:
452:
448:
444:
440:
436:
432:
418:
407:
402:
398:
394:
390:
386:
384:pars reticulata
382:
378:
374:
370:
356:
300:
287:
279:
269:
268:
267:
260:
240:
217:Gene location (
199:
186:
178:
168:
167:
166:
159:
137:
114:Gene location (
65:
52:
45:
17:
12:
11:
5:
5007:
5005:
4997:
4996:
4991:
4981:
4980:
4974:
4973:
4965:
4962:
4961:
4958:
4957:
4954:
4953:
4951:
4950:
4945:
4940:
4935:
4929:
4927:
4917:
4916:
4911:
4904:
4903:
4900:
4899:
4896:
4895:
4893:
4892:
4887:
4886:
4885:
4884:
4883:
4878:
4873:
4865:
4864:
4863:
4858:
4853:
4845:
4844:
4843:
4838:
4833:
4828:
4823:
4818:
4813:
4805:
4804:
4803:
4798:
4793:
4788:
4783:
4778:
4773:
4759:
4757:
4745:
4744:
4742:
4741:
4736:
4735:
4734:
4729:
4724:
4714:
4713:
4712:
4707:
4702:
4697:
4692:
4687:
4682:
4677:
4672:
4667:
4656:
4654:
4640:
4634:
4633:
4631:
4630:
4629:
4628:
4623:
4618:
4613:
4608:
4603:
4593:
4592:
4591:
4586:
4576:
4571:
4570:
4569:
4564:
4559:
4549:
4548:
4547:
4542:
4537:
4532:
4527:
4522:
4517:
4512:
4502:
4501:
4500:
4495:
4490:
4485:
4480:
4475:
4470:
4465:
4455:
4444:
4442:
4430:
4429:
4427:
4426:
4425:
4424:
4419:
4414:
4409:
4404:
4392:
4391:
4390:
4385:
4380:
4370:
4369:
4368:
4363:
4358:
4353:
4342:
4340:
4328:
4327:
4325:
4324:
4318:
4316:
4314:Proton channel
4304:
4303:
4301:
4300:
4299:
4298:
4293:
4283:
4282:
4281:
4276:
4271:
4266:
4261:
4256:
4251:
4241:
4240:
4239:
4234:
4229:
4224:
4219:
4214:
4209:
4204:
4199:
4189:
4184:
4183:
4182:
4181:
4180:
4175:
4170:
4165:
4155:
4154:
4153:
4148:
4138:
4137:
4136:
4120:
4118:
4102:
4101:
4096:
4089:
4088:
4085:
4084:
4081:
4080:
4078:
4077:
4072:
4071:
4070:
4065:
4060:
4050:
4045:
4040:
4039:
4038:
4033:
4028:
4023:
4013:
4012:
4011:
4006:
4001:
3991:
3986:
3985:
3984:
3983:
3978:
3973:
3966:
3965:
3964:
3959:
3954:
3947:
3946:
3945:
3940:
3933:
3932:
3931:
3926:
3921:
3914:
3913:
3912:
3907:
3900:
3899:
3898:
3893:
3888:
3883:
3878:
3868:
3863:
3862:
3861:
3860:
3855:
3850:
3845:
3838:
3837:
3836:
3829:
3828:
3827:
3822:
3817:
3810:
3809:
3808:
3803:
3798:
3793:
3786:
3785:
3784:
3779:
3772:
3771:
3770:
3765:
3760:
3755:
3750:
3745:
3740:
3735:
3725:
3720:
3718:
3712:
3711:
3709:
3708:
3707:
3706:
3701:
3696:
3691:
3686:
3681:
3676:
3671:
3666:
3661:
3656:
3651:
3646:
3641:
3636:
3625:
3623:
3617:
3616:
3614:
3613:
3612:
3611:
3606:
3601:
3596:
3591:
3586:
3577:
3573:
3572:
3571:
3566:
3561:
3556:
3547:
3539:
3538:
3537:
3532:
3527:
3522:
3517:
3512:
3503:
3499:
3495:
3490:
3488:
3482:
3481:
3479:
3478:
3477:
3476:
3471:
3466:
3461:
3456:
3451:
3446:
3441:
3432:
3428:
3427:
3426:
3418:
3417:
3416:
3411:
3406:
3396:
3395:
3394:
3389:
3384:
3379:
3374:
3363:
3361:
3351:
3350:
3342:
3335:
3334:
3331:
3330:
3327:
3326:
3324:
3323:
3322:
3321:
3316:
3311:
3306:
3296:
3292:
3291:
3290:
3285:
3280:
3275:
3270:
3265:
3260:
3255:
3250:
3245:
3235:
3230:
3228:
3222:
3221:
3219:
3218:
3217:
3216:
3211:
3206:
3201:
3190:
3188:
3181:
3180:
3178:
3177:
3176:
3175:
3170:
3165:
3160:
3149:
3147:
3139:
3138:
3135:Sodium channel
3130:
3123:
3122:
3119:
3118:
3115:
3114:
3112:
3111:
3110:
3109:
3104:
3094:
3093:
3092:
3087:
3082:
3077:
3066:
3065:
3064:
3063:
3058:
3053:
3048:
3038:
3037:
3036:
3031:
3026:
3021:
3011:
3010:
3009:
3004:
2994:
2989:
2988:
2987:
2986:
2981:
2976:
2966:
2958:
2953:
2945:
2940:
2932:
2931:
2930:
2920:
2912:
2907:
2899:
2898:
2897:
2892:
2887:
2882:
2872:
2863:
2861:
2855:
2854:
2852:
2851:
2850:
2849:
2844:
2839:
2829:
2828:
2827:
2822:
2817:
2806:
2804:
2796:
2795:
2787:
2780:
2779:
2765:
2763:
2762:
2755:
2748:
2740:
2721:
2720:
2701:
2694:
2693:External links
2691:
2689:
2688:
2645:
2602:
2564:(6): 4008–13.
2549:
2512:
2491:10.1002/humu.9
2478:Human Mutation
2468:
2415:
2379:
2357:
2318:
2289:
2257:Human Genetics
2251:
2219:Human Genetics
2213:
2183:
2163:(9): 1517–25.
2148:
2108:
2070:
2027:
1989:
1960:
1926:Human Mutation
1916:
1914:
1911:
1909:
1908:
1893:
1867:
1811:
1776:
1761:
1722:
1673:
1652:(3): 1838–50.
1632:
1558:
1518:
1501:
1483:
1465:
1444:
1422:
1420:
1417:
1385:
1382:
1369:
1366:
1340:
1337:
1324:
1321:
1279:
1276:
1274:
1271:
1262:
1259:
1211:
1208:
1142:
1139:
1115:
1112:
1110:
1107:
1048:
1047:
1044:
1043:
1038:
1028:
1027:
1021:
1020:
1017:
1016:
1014:
1012:
1005:
1004:
997:
990:
986:
985:
982:
981:
971:
970:
964:
961:
960:
946:
945:
919:
915:
914:
911:
910:
900:
899:
893:
890:
889:
875:
874:
848:
844:
843:
840:
839:
831:
830:
824:
821:
820:
812:
811:
805:
799:
798:
795:
794:
786:
785:
779:
776:
775:
767:
766:
760:
754:
753:
750:
749:
741:
740:
734:
731:
730:
722:
721:
715:
709:
708:
703:
698:
694:
693:
683:
682:
679:
678:
667:
666:
664:
663:
658:
653:
648:
643:
638:
633:
628:
623:
618:
612:
610:
606:
605:
603:
602:
597:
592:
587:
582:
577:
571:
569:
565:
564:
562:
561:
556:
551:
546:
540:
538:
534:
533:
523:
522:
519:
518:
515:
514:
506:
505:
494:
488:
487:
484:
483:
475:
474:
471:
470:
468:
467:
463:
459:
455:
451:
447:
443:
439:
435:
431:
427:
424:
423:
412:
409:
408:
406:
405:
401:
397:
393:
389:
385:
381:
377:
373:
369:
365:
362:
361:
349:
348:
340:
329:
323:
322:
319:RNA expression
311:
310:
307:
306:
298:
294:
293:
285:
282:
277:
271:
270:
261:
254:
248:
244:
243:
238:
232:
231:
223:
222:
210:
209:
206:
205:
197:
193:
192:
184:
181:
176:
170:
169:
160:
153:
147:
143:
142:
135:
129:
128:
120:
119:
107:
106:
63:
59:
58:
50:
42:
41:
37:
36:
33:
32:
15:
13:
10:
9:
6:
4:
3:
2:
5006:
4995:
4992:
4990:
4987:
4986:
4984:
4971:
4970:
4963:
4949:
4946:
4944:
4943:Voltage-gated
4941:
4939:
4936:
4934:
4931:
4930:
4928:
4926:
4922:
4918:
4914:
4909:
4905:
4891:
4888:
4882:
4879:
4877:
4874:
4872:
4869:
4868:
4866:
4862:
4859:
4857:
4854:
4852:
4849:
4848:
4846:
4842:
4839:
4837:
4834:
4832:
4829:
4827:
4824:
4822:
4819:
4817:
4814:
4812:
4809:
4808:
4806:
4802:
4799:
4797:
4794:
4792:
4789:
4787:
4784:
4782:
4779:
4777:
4774:
4772:
4769:
4768:
4766:
4765:
4764:
4761:
4760:
4758:
4756:
4753:
4751:
4746:
4740:
4737:
4733:
4730:
4728:
4725:
4723:
4720:
4719:
4718:
4715:
4711:
4708:
4706:
4703:
4701:
4698:
4696:
4693:
4691:
4688:
4686:
4683:
4681:
4678:
4676:
4673:
4671:
4668:
4666:
4663:
4662:
4661:
4658:
4657:
4655:
4653:
4650:
4648:
4644:
4635:
4627:
4624:
4622:
4619:
4617:
4614:
4612:
4609:
4607:
4604:
4602:
4599:
4598:
4597:
4594:
4590:
4587:
4585:
4582:
4581:
4580:
4577:
4575:
4572:
4568:
4565:
4563:
4560:
4558:
4555:
4554:
4553:
4550:
4546:
4543:
4541:
4538:
4536:
4533:
4531:
4528:
4526:
4523:
4521:
4518:
4516:
4513:
4511:
4508:
4507:
4506:
4503:
4499:
4496:
4494:
4491:
4489:
4486:
4484:
4481:
4479:
4476:
4474:
4471:
4469:
4466:
4464:
4461:
4460:
4459:
4456:
4453:
4449:
4446:
4445:
4443:
4441:
4438:
4436:
4431:
4423:
4420:
4418:
4415:
4413:
4410:
4408:
4405:
4403:
4400:
4399:
4398:
4397:
4393:
4389:
4386:
4384:
4381:
4379:
4376:
4375:
4374:
4371:
4367:
4364:
4362:
4359:
4357:
4354:
4352:
4349:
4348:
4347:
4344:
4343:
4341:
4339:
4336:
4334:
4329:
4323:
4320:
4319:
4317:
4315:
4312:
4310:
4305:
4297:
4294:
4292:
4289:
4288:
4287:
4284:
4280:
4277:
4275:
4272:
4270:
4267:
4265:
4262:
4260:
4257:
4255:
4252:
4250:
4247:
4246:
4245:
4242:
4238:
4235:
4233:
4230:
4228:
4225:
4223:
4220:
4218:
4215:
4213:
4210:
4208:
4205:
4203:
4200:
4198:
4195:
4194:
4193:
4190:
4188:
4185:
4179:
4176:
4174:
4171:
4169:
4166:
4164:
4161:
4160:
4159:
4156:
4152:
4149:
4147:
4144:
4143:
4142:
4139:
4135:
4132:
4131:
4130:
4127:
4126:
4125:
4122:
4121:
4119:
4117:
4114:
4112:
4107:
4103:
4099:
4098:Miscellaneous
4094:
4090:
4076:
4075:Shaker (gene)
4073:
4069:
4066:
4064:
4061:
4059:
4056:
4055:
4054:
4051:
4049:
4048:minK/ISK-like
4046:
4044:
4041:
4037:
4034:
4032:
4029:
4027:
4024:
4022:
4019:
4018:
4017:
4014:
4010:
4007:
4005:
4002:
4000:
3997:
3996:
3995:
3988:
3987:
3982:
3979:
3977:
3974:
3972:
3969:
3968:
3967:
3963:
3960:
3958:
3955:
3953:
3950:
3949:
3948:
3944:
3941:
3939:
3936:
3935:
3934:
3930:
3927:
3925:
3922:
3920:
3917:
3916:
3915:
3911:
3908:
3906:
3903:
3902:
3901:
3897:
3894:
3892:
3889:
3887:
3884:
3882:
3879:
3877:
3874:
3873:
3872:
3865:
3864:
3859:
3856:
3854:
3851:
3849:
3846:
3844:
3841:
3840:
3839:
3835:
3832:
3831:
3830:
3826:
3823:
3821:
3818:
3816:
3813:
3812:
3811:
3807:
3804:
3802:
3799:
3797:
3794:
3792:
3789:
3788:
3787:
3783:
3780:
3778:
3775:
3774:
3773:
3769:
3766:
3764:
3761:
3759:
3756:
3754:
3751:
3749:
3746:
3744:
3741:
3739:
3736:
3734:
3731:
3730:
3729:
3722:
3721:
3719:
3717:
3716:Voltage-gated
3713:
3705:
3702:
3700:
3697:
3695:
3692:
3690:
3687:
3685:
3682:
3680:
3677:
3675:
3672:
3670:
3667:
3665:
3662:
3660:
3657:
3655:
3652:
3650:
3647:
3645:
3642:
3640:
3637:
3635:
3632:
3631:
3630:
3627:
3626:
3624:
3622:
3618:
3610:
3607:
3605:
3602:
3600:
3597:
3595:
3592:
3590:
3587:
3585:
3582:
3581:
3580:
3574:
3570:
3567:
3565:
3562:
3560:
3557:
3555:
3552:
3551:
3550:
3543:
3540:
3536:
3533:
3531:
3528:
3526:
3523:
3521:
3518:
3516:
3513:
3511:
3508:
3507:
3506:
3500:
3498:
3492:
3491:
3489:
3487:
3483:
3475:
3472:
3470:
3467:
3465:
3462:
3460:
3457:
3455:
3452:
3450:
3447:
3445:
3442:
3440:
3437:
3436:
3435:
3429:
3425:
3422:
3421:
3419:
3415:
3412:
3410:
3407:
3405:
3402:
3401:
3400:
3397:
3393:
3390:
3388:
3385:
3383:
3380:
3378:
3375:
3373:
3370:
3369:
3368:
3365:
3364:
3362:
3360:
3356:
3352:
3348:
3345:
3340:
3336:
3320:
3317:
3315:
3312:
3310:
3307:
3305:
3302:
3301:
3300:
3293:
3289:
3286:
3284:
3281:
3279:
3276:
3274:
3271:
3269:
3266:
3264:
3261:
3259:
3256:
3254:
3251:
3249:
3246:
3244:
3241:
3240:
3239:
3232:
3231:
3229:
3227:
3226:Voltage-gated
3223:
3215:
3212:
3210:
3207:
3205:
3202:
3200:
3197:
3196:
3195:
3192:
3191:
3189:
3186:
3182:
3174:
3171:
3169:
3166:
3164:
3161:
3159:
3156:
3155:
3154:
3151:
3150:
3148:
3144:
3140:
3136:
3133:
3128:
3124:
3108:
3105:
3103:
3100:
3099:
3098:
3095:
3091:
3088:
3086:
3083:
3081:
3078:
3076:
3073:
3072:
3071:
3068:
3067:
3062:
3059:
3057:
3054:
3052:
3049:
3047:
3044:
3043:
3042:
3039:
3035:
3032:
3030:
3027:
3025:
3022:
3020:
3017:
3016:
3015:
3012:
3008:
3005:
3003:
3000:
2999:
2998:
2991:
2990:
2985:
2982:
2980:
2977:
2975:
2972:
2971:
2970:
2962:
2959:
2957:
2949:
2946:
2944:
2936:
2933:
2929:
2926:
2925:
2924:
2916:
2913:
2911:
2903:
2900:
2896:
2893:
2891:
2888:
2886:
2883:
2881:
2878:
2877:
2876:
2868:
2865:
2864:
2862:
2860:
2859:Voltage-gated
2856:
2848:
2845:
2843:
2840:
2838:
2835:
2834:
2833:
2830:
2826:
2823:
2821:
2818:
2816:
2813:
2812:
2811:
2808:
2807:
2805:
2801:
2797:
2793:
2790:
2785:
2781:
2776:
2772:
2768:
2761:
2756:
2754:
2749:
2747:
2742:
2741:
2738:
2734:
2733:
2731:
2730:public domain
2727:
2718:
2714:
2713:
2708:
2707:
2702:
2700:
2697:
2696:
2692:
2685:
2681:
2676:
2671:
2667:
2663:
2660:(6): 681–92.
2659:
2655:
2651:
2646:
2642:
2638:
2633:
2628:
2624:
2620:
2616:
2612:
2608:
2603:
2599:
2595:
2590:
2585:
2580:
2575:
2571:
2567:
2563:
2559:
2555:
2550:
2546:
2542:
2538:
2534:
2530:
2526:
2523:(2): 107–15.
2522:
2518:
2513:
2509:
2505:
2501:
2497:
2492:
2487:
2483:
2479:
2475:
2469:
2465:
2461:
2456:
2451:
2446:
2441:
2437:
2433:
2429:
2425:
2421:
2416:
2412:
2408:
2403:
2398:
2395:(4): 286–92.
2394:
2390:
2386:
2380:
2376:
2372:
2369:(6): 1291–6.
2368:
2364:
2358:
2354:
2350:
2345:
2340:
2337:(4): 538–43.
2336:
2332:
2328:
2324:
2319:
2315:
2311:
2307:
2303:
2299:
2295:
2290:
2286:
2282:
2278:
2274:
2270:
2266:
2263:(6): 449–53.
2262:
2258:
2252:
2248:
2244:
2240:
2236:
2232:
2228:
2224:
2220:
2214:
2210:
2206:
2202:
2198:
2195:(1): 98–101.
2194:
2190:
2184:
2180:
2176:
2171:
2166:
2162:
2158:
2154:
2149:
2145:
2141:
2137:
2133:
2129:
2125:
2121:
2117:
2113:
2109:
2105:
2101:
2097:
2093:
2089:
2085:
2081:
2077:
2071:
2067:
2063:
2058:
2053:
2049:
2045:
2041:
2037:
2033:
2028:
2024:
2020:
2016:
2012:
2008:
2004:
2000:
1996:
1990:
1986:
1982:
1978:
1974:
1971:(2): 163–76.
1970:
1966:
1961:
1957:
1953:
1949:
1945:
1940:
1935:
1931:
1927:
1923:
1918:
1917:
1912:
1904:
1900:
1896:
1890:
1886:
1882:
1878:
1871:
1868:
1863:
1859:
1854:
1849:
1845:
1841:
1838:(2): 559–69.
1837:
1833:
1829:
1822:
1820:
1818:
1816:
1812:
1807:
1803:
1799:
1795:
1792:(2): 639–72.
1791:
1787:
1780:
1777:
1772:
1768:
1764:
1758:
1754:
1750:
1746:
1739:
1737:
1735:
1733:
1731:
1729:
1727:
1723:
1718:
1714:
1710:
1706:
1701:
1696:
1693:(6): 665–76.
1692:
1688:
1684:
1677:
1674:
1669:
1665:
1660:
1655:
1651:
1647:
1643:
1636:
1633:
1628:
1624:
1619:
1614:
1610:
1606:
1602:
1598:
1594:
1587:
1585:
1583:
1581:
1579:
1577:
1575:
1573:
1571:
1569:
1567:
1565:
1563:
1559:
1554:
1550:
1546:
1542:
1539:(9): 535–43.
1538:
1534:
1527:
1525:
1523:
1519:
1514:
1508:
1506:
1502:
1497:
1493:
1487:
1484:
1479:
1475:
1469:
1466:
1462:
1458:
1453:
1451:
1449:
1445:
1441:
1437:
1432:
1430:
1428:
1424:
1418:
1416:
1414:
1409:
1407:
1406:visual acuity
1403:
1398:
1390:
1383:
1381:
1379:
1375:
1367:
1361:
1357:
1355:
1351:
1350:macular edema
1347:
1338:
1336:
1334:
1330:
1322:
1320:
1318:
1313:
1309:
1305:
1301:
1297:
1293:
1284:
1277:
1272:
1270:
1268:
1260:
1258:
1256:
1252:
1248:
1244:
1240:
1236:
1232:
1228:
1224:
1220:
1217:
1209:
1207:
1205:
1200:
1196:
1192:
1188:
1187:transmembrane
1178:
1174:
1172:
1168:
1164:
1160:
1156:
1152:
1148:
1140:
1138:
1136:
1131:
1129:
1125:
1121:
1113:
1108:
1106:
1104:
1100:
1096:
1090:
1088:
1084:
1080:
1076:
1072:
1067:
1065:
1062:
1058:
1055:(Best1) is a
1054:
1042:
1037:
1033:
1029:
1026:
1022:
1015:
1013:
1010:
1006:
1002:
998:
995:
991:
987:
980:
978:
972:
968:
965:
959:
957:
953:
947:
943:
939:
935:
931:
927:
923:
920:
916:
909:
907:
901:
897:
894:
888:
886:
882:
876:
872:
868:
864:
860:
856:
852:
849:
847:RefSeq (mRNA)
845:
838:
837:
832:
828:
825:
819:
818:
813:
809:
806:
804:
800:
793:
792:
787:
783:
780:
774:
773:
768:
764:
761:
759:
755:
748:
747:
742:
738:
735:
729:
728:
723:
719:
716:
714:
710:
707:
704:
702:
699:
695:
692:
688:
684:
677:
673:
668:
662:
659:
657:
654:
652:
649:
647:
644:
642:
641:ion transport
639:
637:
634:
632:
629:
627:
624:
622:
619:
617:
614:
613:
611:
608:
607:
601:
598:
596:
593:
591:
588:
586:
583:
581:
578:
576:
573:
572:
570:
567:
566:
560:
557:
555:
552:
550:
547:
545:
542:
541:
539:
536:
535:
532:
531:Gene ontology
528:
524:
512:
507:
503:
498:
495:
493:
489:
481:
476:
465:
461:
457:
453:
449:
445:
441:
438:otolith organ
437:
433:
429:
428:
425:
421:
416:
413:
403:
399:
396:Pars compacta
395:
391:
387:
383:
379:
375:
371:
367:
366:
363:
359:
354:
351:
350:
347:
345:
341:
339:
338:
334:
333:
330:
328:
324:
320:
316:
312:
304:
299:
295:
291:
286:
276:
272:
265:
258:
252:
245:
237:
233:
229:
224:
220:
215:
211:
203:
198:
194:
190:
185:
175:
171:
164:
157:
151:
144:
140:
134:
130:
126:
121:
117:
112:
108:
104:
100:
96:
92:
88:
84:
80:
76:
72:
68:
60:
55:
48:
43:
38:
34:
29:
21:
4994:Ion channels
4966:
4933:Ligand-gated
4924:
4912:
4755:Gap junction
4748:
4637:
4433:
4394:
4372:
4345:
4331:
4307:
4285:
4243:
4191:
4157:
4145:
4140:
4128:
4109:
4097:
4052:
4015:
3989:
3866:
3723:
3628:
3575:
3545:
3501:
3430:
3343:
3294:
3233:
3131:
3040:
3013:
2992:
2964:
2951:
2938:
2918:
2905:
2870:
2803:Ligand-gated
2788:
2771:ion channels
2723:
2722:
2711:
2705:
2657:
2653:
2614:
2610:
2561:
2557:
2520:
2516:
2481:
2477:
2427:
2423:
2392:
2388:
2366:
2362:
2334:
2330:
2300:(2): 260–2.
2297:
2293:
2260:
2256:
2225:(5): 383–9.
2222:
2218:
2192:
2188:
2160:
2156:
2122:(5373): 31.
2119:
2115:
2082:(3): 241–7.
2079:
2075:
2042:(1): 48–56.
2039:
2035:
2001:(3): 156–9.
1998:
1994:
1968:
1964:
1932:(4): 301–8.
1929:
1925:
1876:
1870:
1835:
1831:
1789:
1785:
1779:
1744:
1690:
1686:
1676:
1649:
1645:
1635:
1600:
1596:
1536:
1532:
1495:
1486:
1477:
1468:
1410:
1395:
1371:
1342:
1327:Adult-onset
1326:
1289:
1264:
1243:calreticulin
1219:degenerative
1213:
1184:
1144:
1132:
1117:
1091:
1068:
1060:
1053:Bestrophin-1
1052:
1051:
974:
956:NP_001350522
952:NP_001350521
949:
942:NP_001350520
934:NP_001287716
930:NP_001287715
926:NP_001132915
903:
885:NM_001363593
881:NM_001363592
878:
871:NM_001363591
863:NM_001300787
859:NM_001300786
855:NM_001139443
834:
815:
789:
770:
744:
725:
705:
700:
446:spermatocyte
392:tibial nerve
342:
335:
280:19|19 A
62:External IDs
4938:Light-gated
3420:IK channel
2321:Lotery AJ,
2088:10.1038/915
1685:. primary.
1644:. primary.
1402:optic discs
1199:hydrophobic
1163:amino acids
1159:ion channel
1128:3-prime end
462:granulocyte
200:61,965,515
187:61,950,063
40:Identifiers
4983:Categories
4141:Bestrophin
3399:SK channel
3367:BK channel
3041:γ-subunits
3014:β-subunits
2997:δ-subunits
2484:(3): 235.
1830:. review.
1595:. review.
1463:, May 2017
1442:, May 2017
1419:References
1296:lipofuscin
1241:, such as
1089:diseases.
1081:with Best
380:C1 segment
346:(ortholog)
301:9,978,997
288:9,962,538
83:HomoloGene
4969:disorders
4967:see also
4750:Cytoplasm
4660:Aquaporin
4129:Anoctamin
3952:11.1/hERG
2112:Pennisi E
1965:Hereditas
1603:: 45–69.
1378:cataracts
1235:organelle
1171:C-termini
1165:and both
1109:Structure
977:NP_036043
938:NP_004174
906:NM_011913
867:NM_004183
691:Orthologs
434:spermatid
91:GeneCards
4763:Connexin
4043:minK/ISK
2684:19029375
2641:19635817
2598:11904445
2537:11449320
2508:16128731
2500:11241846
2464:11050159
2411:10854112
2375:10798642
2353:10766140
2314:10682987
2277:10453731
2247:21255716
2239:10394929
2209:10331951
2189:Genomics
2144:44271444
2104:23334668
1956:23807050
1948:10737974
1903:24664688
1862:20349192
1806:18391176
1771:22183384
1717:24698373
1709:19067971
1668:17085443
1627:28153808
1553:26254230
1459:–
1438:–
1273:Diseases
1261:Function
1247:calnexin
1227:vesicles
1195:nonpolar
1191:aromatic
1169:and the
1079:mutation
1025:Wikidata
670:Sources:
595:membrane
388:monocyte
4890:Innexin
4647:solutes
2675:2585866
2632:2766645
2566:Bibcode
2545:7035792
2432:Bibcode
2285:6214287
2179:9700209
2136:9679014
2116:Science
2096:9662395
2066:9445487
2015:1395087
1853:2893225
1618:5600499
1461:Ensembl
1440:Ensembl
1300:lesions
1290:Best's
1223:cytosol
1216:retinal
1141:Protein
1057:protein
803:UniProt
758:Ensembl
697:Species
676:QuickGO
580:cytosol
442:utricle
404:putamen
321:pattern
179:11q12.3
79:1346332
47:Aliases
3187:-gated
3185:Proton
2961:T-type
2948:R-type
2935:Q-type
2915:P-type
2902:N-type
2867:L-type
2703:Human
2682:
2672:
2639:
2629:
2596:
2589:122639
2586:
2543:
2535:
2506:
2498:
2462:
2452:
2409:
2373:
2351:
2312:
2283:
2275:
2245:
2237:
2207:
2177:
2142:
2134:
2102:
2094:
2064:
2057:310689
2054:
2023:924428
2021:
2013:
1985:838599
1983:
1954:
1946:
1901:
1891:
1860:
1850:
1804:
1769:
1759:
1715:
1707:
1666:
1625:
1615:
1551:
1251:Stim-1
1124:intron
1103:retina
1011:search
1009:PubMed
836:O88870
817:O76090
713:Entrez
492:BioGPS
466:embryo
71:607854
4801:GJA10
4652:Porin
4552:TRPML
4322:HVCN1
4016:KCNIP
3871:α7-12
2775:TC 1A
2712:BEST1
2706:BEST1
2541:S2CID
2504:S2CID
2455:18837
2281:S2CID
2243:S2CID
2140:S2CID
2100:S2CID
2019:S2CID
1952:S2CID
1713:S2CID
1333:PRPH2
1095:anion
1071:BEST2
1061:BEST1
746:24115
706:Mouse
701:Human
672:Amigo
450:ankle
344:Mouse
337:Human
284:Start
219:Mouse
183:Start
116:Human
95:BEST1
87:37895
54:BEST1
31:BEST1
4881:GJD4
4876:GJD3
4871:GJD2
4861:GJC3
4856:GJC2
4851:GJC1
4841:GJB7
4836:GJB6
4831:GJB5
4826:GJB4
4821:GJB3
4816:GJB2
4811:GJB1
4796:GJA9
4791:GJA8
4786:GJA5
4781:GJA4
4776:GJA3
4771:GJA1
4596:TRPV
4579:TRPP
4574:TRPN
4505:TRPM
4458:TRPC
4448:TRPA
4286:CLNS
4244:CLIC
4192:CLCN
4187:CFTR
4134:ANO1
4053:MiRP
3981:12.3
3976:12.2
3971:12.1
3962:11.3
3957:11.2
3943:10.2
3938:10.1
3728:α1-6
3542:GIRK
2956:α2.3
2943:α2.1
2910:α2.2
2680:PMID
2637:PMID
2594:PMID
2533:PMID
2496:PMID
2460:PMID
2407:PMID
2371:PMID
2349:PMID
2310:PMID
2273:PMID
2235:PMID
2205:PMID
2175:PMID
2132:PMID
2092:PMID
2062:PMID
2011:PMID
1981:PMID
1944:PMID
1899:PMID
1889:ISBN
1858:PMID
1802:PMID
1767:PMID
1757:ISBN
1705:PMID
1664:PMID
1623:PMID
1549:PMID
1249:and
1120:exon
1114:Gene
1064:gene
727:7439
327:Bgee
275:Band
236:Chr.
174:Band
133:Chr.
67:OMIM
24:PDB.
4645:(+
4483:4AP
4396:HCN
3929:9.3
3924:9.2
3919:9.1
3910:8.2
3905:8.1
3896:7.5
3891:7.4
3886:7.3
3881:7.2
3876:7.1
3858:6.4
3853:6.3
3848:6.2
3843:6.1
3834:5.1
3825:4.3
3820:4.2
3815:4.1
3806:3.4
3801:3.3
3796:3.2
3791:3.1
3782:2.2
3777:2.1
3768:1.8
3763:1.7
3758:1.6
3753:1.5
3748:1.4
3743:1.3
3738:1.2
3733:1.1
3629:K2P
3609:7.1
3604:6.2
3599:6.1
3594:5.1
3589:4.2
3584:4.1
3569:3.4
3564:3.3
3559:3.2
3554:3.1
3535:2.6
3530:2.4
3525:2.3
3520:2.2
3515:2.1
3510:1.1
3496:ATP
3474:5.1
3469:4.2
3464:4.1
3459:3.1
3454:2.3
3449:2.2
3444:2.1
3439:1.1
3424:IK1
3414:SK3
3409:SK2
3404:SK1
3283:1.9
3278:1.8
3273:1.7
3268:1.6
3263:1.5
3258:1.4
3253:1.3
3248:1.2
3243:1.1
3132:Na:
2984:3.3
2979:3.2
2974:3.1
2928:2.1
2895:1.4
2890:1.3
2885:1.2
2880:1.1
2789:Ca:
2670:PMC
2662:doi
2658:132
2627:PMC
2619:doi
2615:587
2584:PMC
2574:doi
2525:doi
2486:doi
2450:PMC
2440:doi
2397:doi
2339:doi
2335:118
2302:doi
2298:129
2265:doi
2261:104
2227:doi
2223:104
2197:doi
2165:doi
2124:doi
2120:281
2084:doi
2052:PMC
2044:doi
2003:doi
1973:doi
1934:doi
1881:doi
1848:PMC
1840:doi
1836:460
1794:doi
1749:doi
1695:doi
1654:doi
1650:282
1613:PMC
1605:doi
1541:doi
1181:PDB
297:End
196:End
99:OMA
75:MGI
4985::
4867:D
4847:C
4807:B
4767:A
4649:):
4402:FC
4296:1B
4291:1A
4279:L1
4237:KB
4232:KA
4111:Cl
3704:18
3699:17
3694:16
3689:15
3684:13
3679:12
3674:10
3578:ir
3548:ir
3504:ir
3433:Ca
3392:β4
3387:β3
3382:β2
3377:β1
3372:α1
3344:K:
3295:Na
3288:7A
3234:Na
3061:γ4
3056:γ3
3051:γ2
3046:γ1
3034:β4
3029:β3
3024:β2
3019:β1
2965:Ca
2952:Ca
2939:Ca
2919:Ca
2906:Ca
2871:Ca
2769::
2678:.
2668:.
2656:.
2652:.
2635:.
2625:.
2613:.
2609:.
2592:.
2582:.
2572:.
2562:99
2560:.
2556:.
2539:.
2531:.
2521:22
2519:.
2502:.
2494:.
2482:17
2480:.
2476:.
2458:.
2448:.
2438:.
2428:97
2426:.
2422:.
2405:.
2391:.
2387:.
2367:41
2365:.
2347:.
2333:.
2329:.
2308:.
2296:.
2279:.
2271:.
2259:.
2241:.
2233:.
2221:.
2203:.
2193:58
2191:.
2173:.
2159:.
2155:.
2138:.
2130:.
2118:.
2098:.
2090:.
2080:19
2078:.
2060:.
2050:.
2038:.
2034:.
2017:.
2009:.
1999:42
1997:.
1979:.
1969:84
1967:.
1950:.
1942:.
1930:15
1928:.
1924:.
1897:.
1887:.
1856:.
1846:.
1834:.
1814:^
1800:.
1790:88
1788:.
1765:.
1755:.
1725:^
1711:.
1703:.
1691:21
1689:.
1662:.
1648:.
1621:.
1611:.
1601:58
1599:.
1561:^
1547:.
1537:40
1535:.
1521:^
1504:^
1494:.
1476:.
1447:^
1426:^
1408:.
1356:.
1245:,
1197:,
1167:N-
1153:.
1137:.
1105:.
674:/
303:bp
290:bp
202:bp
189:bp
97:;
93::
89:;
85::
81:;
77::
73:;
69::
4752::
4732:3
4727:2
4722:1
4710:9
4705:8
4700:7
4695:6
4690:5
4685:4
4680:3
4675:2
4670:1
4665:0
4643:O
4641:2
4639:H
4626:6
4621:5
4616:4
4611:3
4606:2
4601:1
4589:2
4584:1
4567:3
4562:2
4557:1
4545:8
4540:7
4535:6
4530:5
4525:4
4520:3
4515:2
4510:1
4498:7
4493:6
4488:5
4478:4
4473:3
4468:2
4463:1
4454:)
4452:1
4450:(
4437::
4435:M
4422:4
4417:3
4412:2
4407:1
4388:3
4383:2
4378:1
4373:β
4366:4
4361:3
4356:2
4351:1
4346:α
4335::
4333:M
4311::
4309:H
4274:6
4269:5
4264:4
4259:3
4254:2
4249:1
4227:7
4222:6
4217:5
4212:4
4207:3
4202:2
4197:1
4178:4
4173:3
4168:2
4163:1
4151:2
4146:1
4113::
4068:3
4063:2
4058:1
4036:4
4031:3
4026:2
4021:1
4009:3
4004:2
3999:1
3994:β
3992:v
3990:K
3869:v
3867:K
3726:v
3724:K
3669:9
3664:7
3659:6
3654:5
3649:4
3644:3
3639:2
3634:1
3576:K
3546:K
3544:/
3502:K
3494:K
3431:K
3319:4
3314:3
3309:2
3304:1
3299:β
3297:v
3238:α
3236:v
3214:4
3209:3
3204:2
3199:1
3173:δ
3168:γ
3163:β
3158:α
3107:2
3102:1
3090:4
3085:3
3080:2
3075:1
3007:2
3002:1
2995:2
2993:α
2969:α
2967:v
2963:/
2954:v
2950:/
2941:v
2937:/
2923:α
2921:v
2917:/
2908:v
2904:/
2875:α
2873:v
2869:/
2847:3
2842:2
2837:1
2825:3
2820:2
2815:1
2777:)
2773:(
2759:e
2752:t
2745:v
2732:.
2719:.
2686:.
2664::
2643:.
2621::
2600:.
2576::
2568::
2547:.
2527::
2510:.
2488::
2466:.
2442::
2434::
2413:.
2399::
2393:8
2377:.
2355:.
2341::
2316:.
2304::
2287:.
2267::
2249:.
2229::
2211:.
2199::
2181:.
2167::
2161:7
2146:.
2126::
2106:.
2086::
2068:.
2046::
2040:8
2025:.
2005::
1987:.
1975::
1958:.
1936::
1905:.
1883::
1864:.
1842::
1808:.
1796::
1773:.
1751::
1719:.
1697::
1670:.
1656::
1629:.
1607::
1555:.
1543::
1515:.
1498:.
1480:.
1122:-
221:)
118:)
101::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
