248:
225:
122:
147:
254:
153:
1854:
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Perreault-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau
1202:
of other defects caused by the same gene, but SYNGAP1-associated intellectual disability is not; it is therefore called non-syndromic intellectual disability. Since neither of the parents of children with this condition have the mutation, this means it was a sporadic mutation that occurred during
2055:
Vlaskamp DR, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GM, van de Laar IM, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van
Ravenswaaij-Arts CM, Hildebrand MS, Mefford HC,
1141:
and multiple translational start sites have been shown to cause opposing effects, illustrating the importance of multiple functional domains that reside within the c- and n-termini. For example, the expression of an α1 or α2 c-terminal variant of SynGAP1 will either increase or decrease synaptic
1904:
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D,
2710:
Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation".
2557:
Song B, Meng F, Yan X, Guo J, Zhang G (October 2003). "Cerebral ischemia immediately increases serine phosphorylation of the synaptic RAS-GTPase activating protein SynGAP by calcium/calmodulin-dependent protein kinase II alpha in hippocampus of rats".
1954:
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, et al. (February 2013). "Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency".
2211:
Fantl WJ, Escobedo JA, Martin GA, Turck CW, del
Rosario M, McCormick F, Williams LT (May 1992). "Distinct phosphotyrosines on a growth factor receptor bind to specific molecules that mediate different signaling pathways".
2673:
Song B, Yan XB, Zhang GY (April 2004). "PSD-95 promotes CaMKII-catalyzed serine phosphorylation of the synaptic RAS-GTPase activating protein SynGAP after transient brain ischemia in rat hippocampus".
2117:"Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases"
2164:
Kluger G, von Stülpnagel-Steinbeis C, Arnold S, Eschermann K, Hartlieb T (August 2019). "Positive Short-Term Effect of Low-Dose
Rosuvastatin in a Patient with SYNGAP1-Associated Epilepsy".
261:
160:
2489:"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins"
1495:
McMahon AC, Barnett MW, O'Leary TS, Stoney PN, Collins MO, Papadia S, Choudhary JS, Komiyama NH, Grant SG, Hardingham GE, Wyllie DJ, Kind PC (June 2012).
1229:
Epilepsy in this disorder is distinctive, combining eyelid myoclonia with absences and myoclonic-atonic seizures. Seizures are often triggered by eating.
1166:, including an increase in overall spine size, which produces more mushroom shaped and less stubby spines. Spine heads are enlarged due to the increased
768:
83:
749:
1198:
Several mutations in the SYNGAP1 gene were identified as the cause of intellectual disability. Intellectual disability is sometimes associated with
20:
2370:
Husi H, Ward MA, Choudhary JS, Blackstock WP, Grant SG (July 2000). "Proteomic analysis of NMDA receptor-adhesion protein signaling complexes".
1353:
1190:
had the greatest impact during the first 3 weeks of development, and reversal of mutations in adults did not improve behavior and cognition.
1178:
severing and turnover. The increased size of the dendritic spines also corresponded to an increase in membrane bound AMPARs or a decrease in
1335:
2907:
1549:
Clement JP, Aceti M, Creson TK, Ozkan ED, Shi Y, Reish NJ, Almonte AG, Miller BH, Wiltgen BJ, Miller CA, Xu X, Rumbaugh G (November 2012).
2750:"SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation"
2251:"The vascular endothelial growth factor receptor KDR activates multiple signal transduction pathways in porcine aortic endothelial cells"
247:
1183:
999:
992:
224:
1371:
1162:
of excitatory synapses. Cultured neurons of SynGAP heterozygotic and homozygotic knockout mice display accelerated maturation of
1322:
1301:
2000:"SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits"
1318:
1121:
through the suppression of upstream signaling pathways. However, SynGAP1 has also been shown to function cooperatively with
146:
121:
1297:
1186:(mEPSP). Mice models with domain specific mutations led to neonatal hyperactivity of the hippocampal trisynaptic circuit.
2597:"Regulation of the neuron-specific Ras GTPase-activating protein, synGAP, by Ca2+/calmodulin-dependent protein kinase II"
63:
260:
159:
2454:"Transient cerebral ischemia increases tyrosine phosphorylation of the synaptic RAS-GTPase activating protein, SynGAP"
1266:
1807:"Mechanisms of synapse and dendrite maintenance and their disruption in psychiatric and neurodegenerative disorders"
253:
152:
1551:"Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses"
2524:"Members of the Zyxin family of LIM proteins interact with members of the p130Cas family of signal transducers"
817:
71:
1086:
798:
794:
2116:
1142:
strength, respectively. Overall, SynGAP1 is essential for development and survival, which is evident as
1237:
A causal therapy was the first successful worldwide by the group of Prof. Gerhard Kluger tested at the
1907:"Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1"
1208:
1155:
1138:
135:
50:
975:
971:
967:
963:
938:
912:
891:
1905:
Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC (July 2013).
2779:
2736:
2698:
2583:
2405:
2358:
2315:
2237:
2189:
1980:
1474:
1421:
1109:
SynGAP1 is a complex protein with several functions that may be regulated temporally via complex
1098:
95:
1706:"The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity"
942:
887:
1218:
Mutations in this gene have also been found associated to cases of developmental and epileptic
2877:
2857:
2826:"SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons"
2812:
2771:
2728:
2690:
2661:
2618:
2575:
2545:
2510:
2475:
2440:
2397:
2350:
2307:
2272:
2229:
2181:
2146:
2138:
2097:
2079:
2037:
2019:
1972:
1936:
1886:
1836:
1787:
1735:
1686:
1655:"SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons"
1632:
1580:
1526:
1466:
1413:
43:
91:
2847:
2837:
2804:
2761:
2720:
2682:
2651:
2643:
2608:
2567:
2535:
2500:
2465:
2430:
2387:
2379:
2340:
2297:
2262:
2221:
2173:
2128:
2087:
2069:
2027:
2011:
1964:
1926:
1918:
1876:
1868:
1826:
1818:
1777:
1769:
1725:
1717:
1676:
1666:
1622:
1614:
1570:
1562:
1516:
1508:
1456:
1403:
1211:
mutation, which means that the individual will be developmentally disabled even if only one
1163:
1159:
1130:
1082:
340:
271:
215:
170:
1440:
1223:
1179:
1167:
1110:
315:
1238:
1822:
2852:
2825:
2092:
2057:
2032:
1999:
1931:
1906:
1881:
1856:
1831:
1806:
1782:
1757:
1730:
1721:
1705:
1681:
1654:
1575:
1550:
1521:
1496:
1219:
1143:
2656:
2631:
2571:
2345:
2328:
2302:
2285:
1627:
1602:
1461:
1444:
1408:
1391:
683:
678:
673:
668:
663:
658:
653:
648:
643:
638:
633:
628:
623:
618:
613:
608:
603:
587:
582:
577:
572:
567:
562:
557:
552:
536:
531:
2901:
2886:
2470:
2453:
2225:
1134:
1118:
1114:
1078:
518:
2783:
2740:
2702:
2587:
2522:
Yi J, Kloeker S, Jensen CC, Bockholt S, Honda H, Hirai H, Beckerle MC (March 2002).
2409:
2362:
2319:
2241:
2193:
1984:
1478:
1425:
1257:. Further clinical studies by the group of Prof. Gerhard Kluger are in preparation.
1253:, which is overactive in SYNGAP1-associated intellectual disability is inhibited by
75:
2686:
2329:"A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II"
2115:
Stülpnagel, Celina von; Hartlieb, Till; Borggräfe, Ingo; et al. (2019-02-01).
1773:
1445:"A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II"
333:
112:
2133:
2766:
2749:
2074:
99:
2793:"Identification of novel phosphorylation sites on postsynaptic density proteins"
2286:"SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family"
1392:"SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family"
1358:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1340:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1182:. These neurons displayed a higher frequency and larger amplitudes of miniature
2830:
Proceedings of the
National Academy of Sciences of the United States of America
2808:
1659:
Proceedings of the
National Academy of Sciences of the United States of America
1566:
416:
2417:
Li W, Okano A, Tian QB, Nakayama K, Furihata T, Nawa H, Suzuki T (June 2001).
2015:
1250:
1242:
232:
129:
79:
2505:
2488:
2267:
2250:
2142:
2083:
2023:
1372:"Entrez Gene: SYNGAP1 synaptic Ras GTPase activating protein 1 homolog (rat)"
2842:
1671:
1298:
ENSG00000197283 GRCh38: Ensembl release 89: ENSG00000227460, ENSG00000197283
713:
476:
354:
299:
286:
198:
185:
87:
2861:
2816:
2775:
2748:
Krapivinsky G, Medina I, Krapivinsky L, Gapon S, Clapham DE (August 2004).
2732:
2694:
2665:
2622:
2613:
2596:
2579:
2549:
2540:
2523:
2514:
2479:
2444:
2435:
2418:
2401:
2185:
2177:
2150:
2101:
2041:
1976:
1940:
1890:
1840:
1791:
1739:
1690:
1636:
1584:
1530:
2354:
2311:
2276:
2233:
1872:
1470:
1417:
1039:
1034:
1199:
1187:
1090:
1023:
862:
843:
2647:
1618:
2891:
2881:
1968:
1756:
Vazquez LE, Chen HJ, Sokolova I, Knuesel I, Kennedy MB (October 2004).
1512:
1204:
1171:
1063:
829:
780:
54:, MRD5, RASA1, RASA5, SYNGAP, synaptic Ras GTPase activating protein 1
1254:
1246:
1212:
1094:
1081:
protein that is critical for the development of cognition and proper
1007:
735:
2792:
2392:
1922:
2724:
1857:"Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation"
2383:
1175:
1129:
formation. One way SynGAP1 affects these processes is through the
1067:
568:
intrinsic component of the cytoplasmic side of the plasma membrane
698:
694:
2632:"Role of Unc51.1 and its binding partners in CNS axon outgrowth"
1603:"Role of Unc51.1 and its binding partners in CNS axon outgrowth"
1274:
1270:
1126:
1122:
1074:
67:
1998:
Michaelson SD, Ozkan ED, Aceti M, et al. (December 2018).
1497:"SynGAP isoforms exert opposing effects on synaptic strength"
2876:
Overview of all the structural information available in the
2419:"Characterization of a novel synGAP isoform, synGAP-beta"
2890:(Mouse Ras/Rap GTPase-activating protein SynGAP) at the
1704:
Kim JH, Lee HK, Takamiya K, Huganir RL (February 2003).
1117:-mediated synaptic plasticity and membrane insertion of
323:
2824:
Rumbaugh G, Adams JP, Kim JH, Huganir RL (March 2006).
2327:
Chen HJ, Rojas-Soto M, Oguni A, Kennedy MB (May 1998).
1653:
Rumbaugh G, Adams JP, Kim JH, Huganir RL (March 2006).
679:
negative regulation of Ras protein signal transduction
488:
2452:
Pei L, Teves RL, Wallace MC, Gurd JW (August 2001).
684:
maintenance of postsynaptic specialization structure
619:
regulation of long-term neuronal synaptic plasticity
2797:
956:
931:
905:
880:
431:
dentate gyrus of hippocampal formation granule cell
2630:Tomoda T, Kim JH, Zhan C, Hatten ME (March 2004).
1601:Tomoda T, Kim JH, Zhan C, Hatten ME (March 2004).
1314:
1312:
1310:
1293:
1291:
1289:
2284:Kim JH, Liao D, Lau LF, Huganir RL (April 1998).
1390:Kim JH, Liao D, Lau LF, Huganir RL (April 1998).
1226:, and touch-related sensory processing deficits.
1113:. A well-documented function of SynGAP1 involves
270:
169:
2056:Jiang Y, Guerrini R, Scheffer IE (2018-12-12).
1648:
1646:
1596:
1594:
614:negative regulation of neuron apoptotic process
1544:
1542:
1540:
1490:
1488:
1319:GRCm38: Ensembl release 89: ENSMUSG00000067629
2791:Jaffe H, Vinade L, Dosemeci A (August 2004).
2458:Journal of Cerebral Blood Flow and Metabolism
1385:
1383:
1381:
8:
2595:Oh JS, Manzerra P, Kennedy MB (April 2004).
2487:Nagase T, Kikuno R, Ohara O (August 2001).
664:regulation of synapse structure or activity
1751:
1749:
1150:Dendritic spine development and maturation
709:
514:
311:
210:
107:
2851:
2841:
2765:
2655:
2612:
2539:
2504:
2469:
2434:
2391:
2344:
2301:
2266:
2249:Kroll J, Waltenberger J (December 1997).
2132:
2091:
2073:
2031:
1930:
1880:
1830:
1781:
1729:
1680:
1670:
1626:
1574:
1520:
1460:
1407:
1085:function. Mutations in humans can cause
1052:Synaptic Ras GTPase-activating protein 1
1285:
1207:) or fertilization of the egg. It is a
21:SYNGAP1-related intellectual disability
654:positive regulation of GTPase activity
24:
2121:Seizure: European Journal of Epilepsy
275:
236:
231:
174:
133:
128:
7:
1154:SynGAP1 is shown to localize at the
2601:The Journal of Biological Chemistry
2528:The Journal of Biological Chemistry
2423:The Journal of Biological Chemistry
2255:The Journal of Biological Chemistry
1861:The New England Journal of Medicine
1823:10.1146/annurev-neuro-060909-153204
659:negative regulation of axonogenesis
1758:"SynGAP regulates spine formation"
1722:10.1523/JNEUROSCI.23-04-01119.2003
1203:division of the parents' gametes (
1184:excitatory postsynaptic potentials
953:
928:
902:
877:
853:
834:
808:
785:
759:
740:
493:
411:
349:
328:
14:
649:regulation of synaptic plasticity
2471:10.1097/00004647-200108000-00008
1855:GA, Michaud JL (February 2009).
1805:Lin YC, Koleske AJ (July 2010).
1439:Chen HJ, Rojas-Soto M, Oguni A,
259:
252:
246:
223:
158:
151:
145:
120:
674:Ras protein signal transduction
2687:10.1016/j.brainres.2004.01.032
1774:10.1523/jneurosci.3213-04.2004
477:More reference expression data
381:right hemisphere of cerebellum
1:
2572:10.1016/S0304-3940(03)00830-9
2346:10.1016/S0896-6273(00)80471-7
2303:10.1016/S0896-6273(00)81008-9
2134:10.1016/j.seizure.2018.12.020
1811:Annual Review of Neuroscience
1462:10.1016/S0896-6273(00)80471-7
1409:10.1016/S0896-6273(00)81008-9
1174:, leading to a decrease in F-
629:regulation of GTPase activity
604:pattern specification process
244:
143:
2767:10.1016/j.neuron.2004.08.003
2226:10.1016/0092-8674(92)90444-H
2075:10.1212/WNL.0000000000006729
1131:MAP kinase signaling pathway
2908:Genes on human chromosome 6
1762:The Journal of Neuroscience
1710:The Journal of Neuroscience
2924:
2809:10.1016/j.bbrc.2004.06.122
1567:10.1016/j.cell.2012.08.045
1265:SYNGAP1 has been shown to
624:regulation of MAPK cascade
18:
2016:10.1038/s41593-018-0268-0
1354:"Mouse PubMed Reference:"
1336:"Human PubMed Reference:"
1038:
1033:
1029:
1022:
1006:
987:
960:
935:
924:
909:
884:
873:
860:
856:
841:
837:
828:
815:
811:
792:
788:
779:
766:
762:
747:
743:
734:
719:
712:
708:
692:
532:GTPase activator activity
517:
513:
501:
496:
487:
474:
423:
414:
361:
352:
322:
314:
310:
293:
280:
243:
222:
213:
209:
192:
179:
142:
119:
110:
106:
61:
58:
48:
41:
36:
32:
27:
2268:10.1074/jbc.272.51.32521
2058:"SYNGAP1 encephalopathy"
1224:autism spectrum disorder
1000:Chr 17: 26.94 – 26.97 Mb
2843:10.1073/pnas.0600084103
2636:Genes & Development
1672:10.1073/pnas.0600084103
1607:Genes & Development
1087:intellectual disability
993:Chr 6: 33.42 – 33.45 Mb
16:Protein in Homo sapiens
2614:10.1074/jbc.M314109200
2541:10.1074/jbc.M106922200
2506:10.1093/dnares/8.4.179
2436:10.1074/jbc.M010744200
2178:10.1055/s-0039-1681066
1249:. In the process, the
439:neural layer of retina
435:superior frontal gyrus
393:superior frontal gyrus
1873:10.1056/NEJMoa0805392
1501:Nature Communications
1194:Clinical significance
1137:signalling. However,
1079:ras GTPase-activating
588:glutamatergic synapse
427:primary visual cortex
238:Chromosome 17 (mouse)
2713:Nature Biotechnology
2560:Neuroscience Letters
1156:postsynaptic density
1139:alternative splicing
634:dendrite development
578:postsynaptic density
136:Chromosome 6 (human)
2648:10.1101/gad.1151204
2372:Nature Neuroscience
2004:Nature Neuroscience
1619:10.1101/gad.1151204
669:signal transduction
639:receptor clustering
397:canal of the cervix
100:SYNGAP1 - orthologs
1969:10.1002/humu.22248
1513:10.1038/ncomms1900
1133:by attenuation of
1099:sensory processing
1070:is encoded by the
1056:synaptic Ras-GAP 1
818:ENSMUSG00000067629
597:Biological process
546:Cellular component
537:SH3 domain binding
525:Molecular function
373:anterior pituitary
369:right uterine tube
1146:die perinatally.
1049:
1048:
1045:
1044:
1018:
1017:
983:
982:
950:
949:
920:
919:
899:
898:
869:
868:
850:
849:
824:
823:
805:
804:
775:
774:
756:
755:
704:
703:
509:
508:
505:
504:
483:
482:
470:
469:
408:
407:
306:
305:
205:
204:
2915:
2865:
2855:
2845:
2820:
2787:
2769:
2744:
2706:
2669:
2659:
2626:
2616:
2591:
2553:
2543:
2518:
2508:
2483:
2473:
2448:
2438:
2429:(24): 21417–24.
2413:
2395:
2366:
2348:
2323:
2305:
2280:
2270:
2245:
2198:
2197:
2161:
2155:
2154:
2136:
2112:
2106:
2105:
2095:
2077:
2052:
2046:
2045:
2035:
1995:
1989:
1988:
1951:
1945:
1944:
1934:
1901:
1895:
1894:
1884:
1851:
1845:
1844:
1834:
1802:
1796:
1795:
1785:
1753:
1744:
1743:
1733:
1701:
1695:
1694:
1684:
1674:
1650:
1641:
1640:
1630:
1598:
1589:
1588:
1578:
1546:
1535:
1534:
1524:
1492:
1483:
1482:
1464:
1436:
1430:
1429:
1411:
1387:
1376:
1375:
1368:
1362:
1361:
1350:
1344:
1343:
1332:
1326:
1316:
1305:
1295:
1233:Ongoing research
1220:encephalopathies
1164:dendritic spines
1160:dendritic spines
1054:, also known as
1031:
1030:
1002:
995:
978:
954:
945:
929:
925:RefSeq (protein)
915:
903:
894:
878:
854:
835:
809:
786:
760:
741:
710:
515:
494:
479:
451:ventricular zone
443:genital tubercle
419:
417:Top expressed in
412:
357:
355:Top expressed in
350:
329:
312:
302:
289:
278:
263:
256:
250:
239:
227:
211:
201:
188:
177:
162:
155:
149:
138:
124:
108:
102:
53:
46:
25:
2923:
2922:
2918:
2917:
2916:
2914:
2913:
2912:
2898:
2897:
2873:
2868:
2836:(12): 4344–51.
2823:
2790:
2747:
2709:
2672:
2629:
2607:(17): 17980–8.
2594:
2556:
2521:
2486:
2451:
2416:
2369:
2326:
2283:
2261:(51): 32521–7.
2248:
2210:
2206:
2204:Further reading
2201:
2166:Neuropediatrics
2163:
2162:
2158:
2114:
2113:
2109:
2068:(2): e96–e107.
2054:
2053:
2049:
1997:
1996:
1992:
1953:
1952:
1948:
1923:10.1038/ng.2646
1911:Nature Genetics
1903:
1902:
1898:
1853:
1852:
1848:
1804:
1803:
1799:
1768:(40): 8862–72.
1755:
1754:
1747:
1703:
1702:
1698:
1665:(12): 4344–51.
1652:
1651:
1644:
1600:
1599:
1592:
1548:
1547:
1538:
1494:
1493:
1486:
1438:
1437:
1433:
1389:
1388:
1379:
1370:
1369:
1365:
1352:
1351:
1347:
1334:
1333:
1329:
1317:
1308:
1296:
1287:
1283:
1263:
1235:
1196:
1180:silent synapses
1168:phosphorylation
1152:
1107:
1077:. SYNGAP1 is a
1040:View/Edit Mouse
1035:View/Edit Human
998:
991:
988:Location (UCSC)
974:
970:
966:
962:
941:
937:
911:
890:
886:
799:ENSG00000197283
797:
795:ENSG00000227460
688:
609:visual learning
592:
583:plasma membrane
573:dendritic shaft
541:
475:
466:
461:
459:ascending aorta
457:
453:
449:
445:
441:
437:
433:
429:
415:
404:
399:
395:
391:
387:
383:
379:
375:
371:
367:
365:pituitary gland
353:
297:
284:
277:17|17 A3.3
276:
266:
265:
264:
257:
237:
214:Gene location (
196:
183:
175:
165:
164:
163:
156:
134:
111:Gene location (
62:
49:
42:
23:
17:
12:
11:
5:
2921:
2919:
2911:
2910:
2900:
2899:
2896:
2895:
2872:
2871:External links
2869:
2867:
2866:
2821:
2788:
2745:
2725:10.1038/nbt971
2707:
2681:(1–2): 44–50.
2675:Brain Research
2670:
2627:
2592:
2554:
2534:(11): 9580–9.
2519:
2484:
2449:
2414:
2367:
2339:(5): 895–904.
2324:
2281:
2246:
2207:
2205:
2202:
2200:
2199:
2172:(4): 266–267.
2156:
2107:
2047:
1990:
1957:Human Mutation
1946:
1896:
1867:(6): 599–605.
1846:
1797:
1745:
1716:(4): 1119–24.
1696:
1642:
1590:
1536:
1484:
1455:(5): 895–904.
1431:
1377:
1363:
1345:
1327:
1306:
1284:
1282:
1279:
1262:
1259:
1234:
1231:
1195:
1192:
1151:
1148:
1119:AMPA receptors
1106:
1103:
1047:
1046:
1043:
1042:
1037:
1027:
1026:
1020:
1019:
1016:
1015:
1013:
1011:
1004:
1003:
996:
989:
985:
984:
981:
980:
958:
957:
951:
948:
947:
933:
932:
926:
922:
921:
918:
917:
907:
906:
900:
897:
896:
882:
881:
875:
871:
870:
867:
866:
858:
857:
851:
848:
847:
839:
838:
832:
826:
825:
822:
821:
813:
812:
806:
803:
802:
790:
789:
783:
777:
776:
773:
772:
764:
763:
757:
754:
753:
745:
744:
738:
732:
731:
726:
721:
717:
716:
706:
705:
702:
701:
690:
689:
687:
686:
681:
676:
671:
666:
661:
656:
651:
646:
641:
636:
631:
626:
621:
616:
611:
606:
600:
598:
594:
593:
591:
590:
585:
580:
575:
570:
565:
560:
555:
549:
547:
543:
542:
540:
539:
534:
528:
526:
522:
521:
511:
510:
507:
506:
503:
502:
499:
498:
491:
485:
484:
481:
480:
472:
471:
468:
467:
465:
464:
460:
456:
452:
448:
447:tail of embryo
444:
440:
436:
432:
428:
424:
421:
420:
409:
406:
405:
403:
402:
398:
394:
390:
386:
385:body of uterus
382:
378:
374:
370:
366:
362:
359:
358:
346:
345:
337:
326:
320:
319:
316:RNA expression
308:
307:
304:
303:
295:
291:
290:
282:
279:
274:
268:
267:
258:
251:
245:
241:
240:
235:
229:
228:
220:
219:
207:
206:
203:
202:
194:
190:
189:
181:
178:
173:
167:
166:
157:
150:
144:
140:
139:
132:
126:
125:
117:
116:
104:
103:
60:
56:
55:
47:
39:
38:
34:
33:
30:
29:
15:
13:
10:
9:
6:
4:
3:
2:
2920:
2909:
2906:
2905:
2903:
2893:
2889:
2888:
2883:
2879:
2875:
2874:
2870:
2863:
2859:
2854:
2849:
2844:
2839:
2835:
2831:
2827:
2822:
2818:
2814:
2810:
2806:
2802:
2798:
2794:
2789:
2785:
2781:
2777:
2773:
2768:
2763:
2760:(4): 563–74.
2759:
2755:
2751:
2746:
2742:
2738:
2734:
2730:
2726:
2722:
2719:(6): 707–16.
2718:
2714:
2708:
2704:
2700:
2696:
2692:
2688:
2684:
2680:
2676:
2671:
2667:
2663:
2658:
2653:
2649:
2645:
2642:(5): 541–58.
2641:
2637:
2633:
2628:
2624:
2620:
2615:
2610:
2606:
2602:
2598:
2593:
2589:
2585:
2581:
2577:
2573:
2569:
2565:
2561:
2555:
2551:
2547:
2542:
2537:
2533:
2529:
2525:
2520:
2516:
2512:
2507:
2502:
2499:(4): 179–87.
2498:
2494:
2490:
2485:
2481:
2477:
2472:
2467:
2464:(8): 955–63.
2463:
2459:
2455:
2450:
2446:
2442:
2437:
2432:
2428:
2424:
2420:
2415:
2411:
2407:
2403:
2399:
2394:
2389:
2385:
2384:10.1038/76615
2381:
2377:
2373:
2368:
2364:
2360:
2356:
2352:
2347:
2342:
2338:
2334:
2330:
2325:
2321:
2317:
2313:
2309:
2304:
2299:
2296:(4): 683–91.
2295:
2291:
2287:
2282:
2278:
2274:
2269:
2264:
2260:
2256:
2252:
2247:
2243:
2239:
2235:
2231:
2227:
2223:
2220:(3): 413–23.
2219:
2215:
2209:
2208:
2203:
2195:
2191:
2187:
2183:
2179:
2175:
2171:
2167:
2160:
2157:
2152:
2148:
2144:
2140:
2135:
2130:
2126:
2122:
2118:
2111:
2108:
2103:
2099:
2094:
2089:
2085:
2081:
2076:
2071:
2067:
2063:
2059:
2051:
2048:
2043:
2039:
2034:
2029:
2025:
2021:
2017:
2013:
2009:
2005:
2001:
1994:
1991:
1986:
1982:
1978:
1974:
1970:
1966:
1963:(2): 385–94.
1962:
1958:
1950:
1947:
1942:
1938:
1933:
1928:
1924:
1920:
1917:(7): 825–30.
1916:
1912:
1908:
1900:
1897:
1892:
1888:
1883:
1878:
1874:
1870:
1866:
1862:
1858:
1850:
1847:
1842:
1838:
1833:
1828:
1824:
1820:
1816:
1812:
1808:
1801:
1798:
1793:
1789:
1784:
1779:
1775:
1771:
1767:
1763:
1759:
1752:
1750:
1746:
1741:
1737:
1732:
1727:
1723:
1719:
1715:
1711:
1707:
1700:
1697:
1692:
1688:
1683:
1678:
1673:
1668:
1664:
1660:
1656:
1649:
1647:
1643:
1638:
1634:
1629:
1624:
1620:
1616:
1613:(5): 541–58.
1612:
1608:
1604:
1597:
1595:
1591:
1586:
1582:
1577:
1572:
1568:
1564:
1561:(4): 709–23.
1560:
1556:
1552:
1545:
1543:
1541:
1537:
1532:
1528:
1523:
1518:
1514:
1510:
1506:
1502:
1498:
1491:
1489:
1485:
1480:
1476:
1472:
1468:
1463:
1458:
1454:
1450:
1446:
1442:
1435:
1432:
1427:
1423:
1419:
1415:
1410:
1405:
1402:(4): 683–91.
1401:
1397:
1393:
1386:
1384:
1382:
1378:
1373:
1367:
1364:
1359:
1355:
1349:
1346:
1341:
1337:
1331:
1328:
1324:
1320:
1315:
1313:
1311:
1307:
1303:
1299:
1294:
1292:
1290:
1286:
1280:
1278:
1276:
1272:
1268:
1260:
1258:
1256:
1252:
1248:
1244:
1240:
1232:
1230:
1227:
1225:
1221:
1216:
1214:
1210:
1206:
1201:
1193:
1191:
1189:
1185:
1181:
1177:
1173:
1169:
1165:
1161:
1157:
1149:
1147:
1145:
1144:knockout mice
1140:
1136:
1132:
1128:
1124:
1120:
1116:
1115:NMDA receptor
1112:
1104:
1102:
1100:
1096:
1092:
1088:
1084:
1080:
1076:
1073:
1069:
1065:
1061:
1057:
1053:
1041:
1036:
1032:
1028:
1025:
1021:
1014:
1012:
1009:
1005:
1001:
997:
994:
990:
986:
979:
977:
973:
969:
965:
959:
955:
952:
946:
944:
940:
934:
930:
927:
923:
916:
914:
908:
904:
901:
895:
893:
889:
883:
879:
876:
874:RefSeq (mRNA)
872:
865:
864:
859:
855:
852:
846:
845:
840:
836:
833:
831:
827:
820:
819:
814:
810:
807:
801:
800:
796:
791:
787:
784:
782:
778:
771:
770:
765:
761:
758:
752:
751:
746:
742:
739:
737:
733:
730:
727:
725:
722:
718:
715:
711:
707:
700:
696:
691:
685:
682:
680:
677:
675:
672:
670:
667:
665:
662:
660:
657:
655:
652:
650:
647:
645:
642:
640:
637:
635:
632:
630:
627:
625:
622:
620:
617:
615:
612:
610:
607:
605:
602:
601:
599:
596:
595:
589:
586:
584:
581:
579:
576:
574:
571:
569:
566:
564:
561:
559:
556:
554:
551:
550:
548:
545:
544:
538:
535:
533:
530:
529:
527:
524:
523:
520:
519:Gene ontology
516:
512:
500:
495:
492:
490:
486:
478:
473:
462:
458:
454:
450:
446:
442:
438:
434:
430:
426:
425:
422:
418:
413:
410:
400:
396:
392:
388:
384:
380:
376:
372:
368:
364:
363:
360:
356:
351:
348:
347:
344:
342:
338:
336:
335:
331:
330:
327:
325:
321:
317:
313:
309:
301:
296:
292:
288:
283:
273:
269:
262:
255:
249:
242:
234:
230:
226:
221:
217:
212:
208:
200:
195:
191:
187:
182:
172:
168:
161:
154:
148:
141:
137:
131:
127:
123:
118:
114:
109:
105:
101:
97:
93:
89:
85:
81:
77:
73:
69:
65:
57:
52:
45:
40:
35:
31:
26:
22:
2885:
2833:
2829:
2803:(1): 210–8.
2800:
2796:
2757:
2753:
2716:
2712:
2678:
2674:
2639:
2635:
2604:
2600:
2566:(3): 183–6.
2563:
2559:
2531:
2527:
2496:
2493:DNA Research
2492:
2461:
2457:
2426:
2422:
2378:(7): 661–9.
2375:
2371:
2336:
2332:
2293:
2289:
2258:
2254:
2217:
2213:
2169:
2165:
2159:
2124:
2120:
2110:
2065:
2061:
2050:
2010:(12): 1–13.
2007:
2003:
1993:
1960:
1956:
1949:
1914:
1910:
1899:
1864:
1860:
1849:
1814:
1810:
1800:
1765:
1761:
1713:
1709:
1699:
1662:
1658:
1610:
1606:
1558:
1554:
1504:
1500:
1452:
1448:
1443:(May 1998).
1434:
1399:
1395:
1366:
1357:
1348:
1339:
1330:
1264:
1261:Interactions
1239:Schön Klinik
1236:
1228:
1217:
1215:is mutated.
1197:
1153:
1108:
1071:
1059:
1055:
1051:
1050:
976:NP_001380956
972:NP_001357963
968:NP_001357962
964:NP_001268420
961:
939:NP_001123538
936:
913:NM_001281491
910:
892:NM_001130066
885:
861:
842:
816:
793:
767:
748:
728:
723:
644:MAPK cascade
463:aortic valve
339:
332:
59:External IDs
2127:: 131–137.
1251:RAS pathway
377:right ovary
298:26,972,434
285:26,941,253
197:33,453,689
184:33,419,661
37:Identifiers
1817:: 349–78.
1441:Kennedy MB
1325:, May 2017
1304:, May 2017
1281:References
1243:Vogtareuth
1101:deficits.
401:myometrium
389:left ovary
343:(ortholog)
80:HomoloGene
19:See also:
2143:1059-1311
2084:0028-3878
2062:Neurology
2024:1546-1726
1200:syndromes
1188:Mutations
943:NP_006763
888:NM_006772
714:Orthologs
553:cytoplasm
88:GeneCards
2902:Category
2862:16537406
2817:15358237
2784:17190912
2776:15312654
2741:27764390
2733:15146197
2703:33854259
2695:15044063
2666:15014045
2623:14970204
2588:19562266
2580:12951199
2550:11782456
2515:11572484
2480:11487731
2445:11278737
2410:14392630
2402:10862698
2393:1842/742
2363:14655729
2320:12247592
2242:34434246
2194:80619705
2186:30875700
2151:30685520
2102:30541864
2042:30455457
1985:11397001
1977:23161826
1941:23708187
1891:19196676
1841:20367247
1792:15470153
1740:12598599
1691:16537406
1637:15014045
1585:23141534
1531:22692543
1479:14655729
1426:12247592
1321:–
1300:–
1267:interact
1209:dominant
1111:isoforms
1105:Function
1091:epilepsy
1066:that in
1024:Wikidata
693:Sources:
563:membrane
2892:PDBe-KB
2882:UniProt
2853:1450173
2355:9620694
2312:9581761
2277:9405464
2234:1374684
2093:6340340
2033:6309426
1932:3704157
1882:2925262
1832:3063389
1783:6729942
1731:6742247
1682:1450173
1576:3500766
1522:3621422
1507:: 900.
1471:9620694
1418:9581761
1323:Ensembl
1302:Ensembl
1255:statins
1247:statins
1205:meiosis
1172:cofilin
1158:on the
1123:Unc51.1
1083:synapse
1072:SYNGAP1
1064:protein
1062:, is a
1060:SYNGAP1
830:UniProt
781:Ensembl
720:Species
699:QuickGO
558:cytosol
318:pattern
176:6p21.32
92:SYNGAP1
76:3039785
51:SYNGAP1
44:Aliases
28:SYNGAP1
2887:F6SEU4
2860:
2850:
2815:
2782:
2774:
2754:Neuron
2739:
2731:
2701:
2693:
2664:
2657:374236
2654:
2621:
2586:
2578:
2548:
2513:
2478:
2443:
2408:
2400:
2361:
2353:
2333:Neuron
2318:
2310:
2290:Neuron
2275:
2240:
2232:
2192:
2184:
2149:
2141:
2100:
2090:
2082:
2040:
2030:
2022:
1983:
1975:
1939:
1929:
1889:
1879:
1839:
1829:
1790:
1780:
1738:
1728:
1689:
1679:
1635:
1628:374236
1625:
1583:
1573:
1529:
1519:
1477:
1469:
1449:Neuron
1424:
1416:
1396:Neuron
1213:allele
1095:autism
1068:humans
1010:search
1008:PubMed
863:F6SEU4
844:Q96PV0
769:240057
736:Entrez
489:BioGPS
455:zygote
68:603384
2780:S2CID
2737:S2CID
2699:S2CID
2584:S2CID
2406:S2CID
2359:S2CID
2316:S2CID
2238:S2CID
2190:S2CID
1981:S2CID
1475:S2CID
1422:S2CID
1269:with
1245:with
1176:actin
729:Mouse
724:Human
695:Amigo
341:Mouse
334:Human
281:Start
216:Mouse
180:Start
113:Human
84:84739
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