1569:(XP) is associated with the lack of DNA repair mechanism and high susceptibility of cancer. A slight insufficiency in the DNA repair mechanism may result in the development of cancer. Some cancers have been recognized with the help of the relation between the single nucleotide polymorphism and genes. The XPD protein produced by the ERCC2 gene plays an important role in the process of transcription and cell death and is also known for nucleotide excision repair pathway. Various literature studies have reviewed the correlation between polymorphisms in ERCC2 and reduced DNA repair efficiency and their influence on the development of the cancers as well as interaction with environmental exposures.
315:
292:
189:
214:
1521:
fix damaged DNA. As a part of the process, the double-stranded DNA that encircles the damage is separated by the TFIIH complex. The XPD protein acts as a helicase and helps with the nucleotide excision repair process by binding to the specific regions of DNA and by unwinding the two DNA spiral strands. This exposes the damaged protein which allows the other proteins to remove the damaged section and replace the impaired area with the correct DNA.
566:
321:
220:
3533:
1517:
With the help of gene transcription, the TFIIH complex is able to control the functioning of many different genes in the body and the XPD protein acts as a stabilizer. XPB is another protein in the general transcription factor IIH (TFIIH) complex and is made from the ERCC3 gene, which works in coordination with XDP protein to commence the process of gene transcription.
1580:
So, when ultraviolet rays harm the genes, the cell grows and divides in an uncontrolled fashion and is highly prone to be cancerous. Xeroderma pigmentosum have high risk of developing cancer in skin and eyes as they are the areas mostly exposed to sun. Xeroderma pigmentosum caused by ERCC2 mutations
1520:
Ultraviolet rays emerging from the sun, various hazardous chemicals, harmful radiations, are all known parameters for the sabotage of the DNA. A normal and healthy cell has the capability to fix the DNA damages before the problems begin due to the damaged DNA. Cells use nucleotide excision repair to
1572:
The second most common cause of xeroderma pigmentosum in the United States are due to mutations in ERCC2 gene, more than twenty-five of which have been observed in people with this disease. The xeroderma pigmentosum is caused when the ERCC2 gene prevents the TFIIH complex from repairing the damaged
1516:
The protein named XPD is expressed under the directions of the ERCC2 gene. The XPD protein is an indispensable part of the general transcription factor IIH (TFIIH) complex, which is a group of proteins. The two vital functions of the TFIIH complex are gene transcription and repairing damaged DNA.
1508:
double helix after damage is initially identified. Nucleotide excision repair is a multi-step pathway that removes a wide range of different damages that distort normal base pairing. Such damages include bulky chemical adducts, ultraviolet-induced pyrimidine dimers, and several forms of
1576:
Consequently, all the deformity collects inside the DNA, sabotaging the repair mechanism and results in the cancerous or dead cells. Thus, the people suffering from xeroderma pigmentosum are highly sensitive to the ultraviolet rays from the sunlight due to the DNA repair problems.
52:
2479:
Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (Feb 1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and
Cockayne syndrome group B (CSB) protein".
1581:
is associated with the numerable developmental neurological malfunctioning which includes; hearing loss, poor coordination, mobility issues, lack of intellectual abilities, difficulties in talking, walking, swallowing the food and seizures.
1554:(loss of subcutaneous fat tissue). XPCS and TTD fibroblasts from ERCC2/XPD mutant human and mouse show evidence of defective repair of oxidative DNA damages that may underlie the segmental progeroid (premature aging) symptoms (see
1963:
1946:
1665:
1648:
1584:
Researchers suspect that these neurological abnormalities are due to the accumulation of DNA damage despite the brain not being exposed to ultraviolet rays. Other factors might cause the DNA damage in nerve cells as well.
2618:
Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (Oct 1998). "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH".
2662:
Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, et al. (Nov 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder".
2802:"Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome"
2518:
Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, et al. (Apr 1994). "Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II".
328:
227:
1433:
2329:"XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase"
1134:
1115:
150:
2017:
3466:
1983:
1982:
1953:
1685:
1684:
1655:
1981:
1683:
3440:
1952:
1654:
121:, excision repair cross-complementation group 2, COFS2, EM9, TFIIH, TTD, XPD, TTD1, ERCC excision repair 2, TFIIH core complex helicase subunit
3557:
3028:
Clarkson SG, Wood RD (Sep 2005). "Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal".
2135:
1997:
1699:
2117:
3101:
2378:"An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria"
1971:
1673:
49:
3156:
2056:
1972:
1674:
314:
3409:
3340:
1984:
1686:
1350:
1996:
1698:
2189:"Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"
1986:
1688:
1357:
2284:
Andressoo JO, Hoeijmakers JH, Mitchell JR (2006). "Nucleotide excision repair disorders and the balance between cancer and aging".
1466:
and is a polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome
291:
2933:
2916:
3424:
2188:
1995:
1992:
1697:
1694:
1510:
2104:
2083:
1969:
1961:
1671:
1663:
1989:
1977:
1691:
1679:
213:
188:
2100:
1959:
1958:
1661:
1660:
1987:
1985:
1957:
1689:
1687:
1659:
1973:
1675:
2917:"A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy"
2079:
3399:
3306:
1967:
1669:
130:
1956:
1658:
1594:
327:
226:
1998:
1700:
3328:
3152:
3145:
1988:
1690:
1555:
1547:
1501:
320:
219:
2749:"Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH"
1550:, retinal degeneration, white matter hypomethylation, central nervous system calcification, reduced stature, and
1954:
1656:
3323:
3245:
3094:
3073:
1994:
1993:
1991:
1980:
1979:
1978:
1962:
1955:
1949:
1696:
1695:
1693:
1682:
1681:
1680:
1664:
1657:
1651:
1179:
138:
1976:
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1950:
1678:
1677:
1676:
1672:
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1668:
1667:
1666:
1662:
1652:
1990:
1951:
1692:
1653:
1160:
3435:
3345:
3140:
3201:
2202:
Liu J. "XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage".
1566:
1535:
1467:
202:
3064:
1481:
XPD is essential for the viability of cells. Deletion of XPD in mice is lethal for developing embryos.
2800:
Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, et al. (Jan 1995).
2708:"A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A"
3126:
2877:
2527:
117:
3536:
3223:
3087:
1539:
1471:
1333:
1308:
1278:
1253:
3567:
3562:
2946:
2903:
2688:
2644:
2571:"Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH"
2551:
2309:
162:
1329:
1304:
1274:
1249:
2376:
Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, et al. (2006).
3419:
3045:
3016:
2981:
2938:
2895:
2852:
2823:
2778:
2729:
2680:
2636:
2600:
2543:
2497:
2458:
2450:
2409:
2358:
2301:
2238:
2170:
1543:
1475:
1444:
110:
42:
2706:
Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, et al. (Jul 2004).
3037:
3006:
2971:
2928:
2885:
2844:
2813:
2768:
2760:
2719:
2672:
2628:
2590:
2582:
2535:
2489:
2440:
2399:
2389:
2348:
2340:
2293:
2230:
2162:
1945:
1647:
407:
338:
282:
237:
2428:
565:
158:
3135:
1546:(XPCS). TTD and CS both display features of premature aging. These features may include
382:
3069:
2881:
2531:
2221:
Robles AI, Harris CC (2001). "p53-mediated apoptosis and genomic instability diseases".
2960:"The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases"
2818:
2801:
2773:
2748:
2595:
2570:
2353:
2328:
2038:
2021:
2008:
2890:
2865:
1049:
1044:
1039:
1034:
1029:
1024:
1019:
1014:
1009:
1004:
999:
994:
989:
984:
979:
974:
969:
964:
959:
954:
949:
944:
939:
934:
929:
924:
919:
914:
909:
904:
899:
894:
889:
884:
879:
874:
869:
864:
859:
854:
849:
844:
839:
834:
829:
824:
819:
814:
809:
804:
799:
794:
789:
773:
768:
763:
758:
753:
748:
743:
738:
733:
728:
723:
718:
702:
697:
692:
687:
682:
677:
672:
667:
662:
657:
652:
647:
642:
637:
632:
627:
622:
617:
612:
607:
3551:
3447:
3268:
594:
2950:
2907:
2747:
Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, et al. (Mar 1997).
2692:
2648:
2313:
3414:
3383:
3333:
3316:
3263:
3216:
2555:
400:
179:
2166:
658:
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
142:
3041:
2344:
166:
2140:
National Center for
Biotechnology Information, U.S. National Library of Medicine
2122:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1463:
483:
3350:
3171:
3118:
3110:
3011:
2994:
2764:
2586:
2445:
2394:
2377:
2234:
1632:
Click on genes, proteins and metabolites below to link to respective articles.
1425:
299:
196:
146:
2454:
2153:
Lee TI, Young RA (2000). "Transcription of eukaryotic protein-coding genes".
1489:
1079:
543:
421:
366:
353:
265:
252:
154:
3049:
3020:
2985:
2942:
2733:
2684:
2462:
2413:
2362:
2305:
2242:
2174:
2899:
2856:
2827:
2782:
2640:
2604:
2547:
2501:
1397:
1392:
3431:
2297:
1551:
1542:(TTD) or a combination of XP and TTD (XPTTD), or a combination of XP and
1448:
1381:
1224:
1205:
3378:
3130:
2976:
2959:
2866:"Transcriptional control: Tat cofactors and transcriptional elongation"
2848:
1459:
1413:
1191:
1146:
2493:
2404:
1534:
Mutations in the ERCC2/XPD gene can lead to various syndromes, either
87:
83:
79:
75:
71:
3503:
3258:
3211:
3206:
2934:
10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6
2539:
2257:
1613:
1607:
1365:
1101:
724:
cyclin-dependent protein kinase activating kinase holoenzyme complex
2724:
2707:
3518:
3513:
3508:
3498:
3491:
3486:
3481:
3476:
3471:
3461:
3456:
3311:
3275:
3196:
3191:
3186:
2835:
Jeang KT (1998). "Tat, Tat-associated kinase, and transcription".
2676:
1601:
1455:
1429:
2632:
1064:
1060:
3404:
3360:
3355:
3290:
3285:
3280:
3253:
3233:
3228:
3181:
1421:
134:
3083:
574:
3166:
3161:
1619:
1505:
1485:
1440:
3079:
1454:
The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22
1451:
activity. It belongs to the RAD3/XPD subfamily of helicases.
990:
nucleotide-excision repair, preincision complex stabilization
1944:
1646:
2036:
The interactive pathway map can be edited at WikiPathways:
2915:
Cleaver JE, Thompson LH, Richardson AS, States JC (1999).
965:
positive regulation of transcription by RNA polymerase II
678:
RNA polymerase II CTD heptapeptide repeat kinase activity
1010:
nucleotide-excision repair, preincision complex assembly
940:
transcription initiation from RNA polymerase II promoter
845:
transcription elongation from RNA polymerase II promoter
390:
1050:
transcription elongation from RNA polymerase I promoter
840:
transcription initiation from RNA polymerase I promoter
3065:
GeneReviews/NIH/NCBI/UW entry on
Xeroderma Pigmentosum
1424:. It is a component of the general transcription and
1045:
nucleotide-excision repair, DNA incision, 3'-to lesion
1015:
nucleotide-excision repair, DNA incision, 5'-to lesion
555:
3392:
3371:
3299:
3244:
3117:
1322:
1297:
1267:
1242:
900:
positive regulation of transcription, DNA-templated
2096:
2094:
2092:
2075:
2073:
2071:
2569:Rossignol M, Kolb-Cheynel I, Egly JM (Apr 1997).
795:regulation of mitotic cell cycle phase transition
337:
236:
1434:transcription-coupled nucleotide excision repair
1035:nucleotide-excision repair, DNA duplex unwinding
955:nucleobase-containing compound metabolic process
935:transcription-coupled nucleotide-excision repair
1948:
1650:
2995:"ERCC2/XPD gene polymorphisms and cancer risk"
2513:
2511:
2474:
2472:
2429:"ERCC2/XPD gene polymorphisms and cancer risk"
2101:GRCm38: Ensembl release 89: ENSMUSG00000030400
3095:
790:termination of RNA polymerase I transcription
8:
2279:
2277:
1040:positive regulation of mitotic recombination
2080:GRCh38: Ensembl release 89: ENSG00000104884
3102:
3088:
3080:
1075:
815:regulation of transcription, DNA-templated
590:
378:
277:
174:
60:
3072:at the U.S. National Library of Medicine
3010:
2975:
2932:
2889:
2817:
2772:
2723:
2594:
2444:
2403:
2393:
2352:
1443:, XPD is a part of human transcriptional
1470:complementation group D, photosensitive
950:nucleotide-excision repair, DNA incision
905:global genome nucleotide-excision repair
895:cellular response to DNA damage stimulus
2067:
2029:
930:central nervous system myelin formation
910:hematopoietic stem cell differentiation
739:transcription factor TFIIH core complex
734:transcription factor TFIIH holo complex
1500:The ERCC2/XPD protein participates in
703:protein-macromolecule adaptor activity
20:
623:ATP-dependent activity, acting on DNA
342:
303:
298:
241:
200:
195:
7:
2427:Benhamou S, Sarasin A (2002-11-01).
2057:Excision repair cross-complementing
2007:|alt=Fluorouracil (5-FU) Activity
1030:regulation of mitotic recombination
3410:Proliferating Cell Nuclear Antigen
3341:Microhomology-mediated end joining
2993:Benhamou S, Sarasin A (Nov 2002).
2864:Yankulov K, Bentley D (Jun 1998).
2806:American Journal of Human Genetics
1319:
1294:
1264:
1239:
1215:
1196:
1170:
1151:
1125:
1106:
925:positive regulation of DNA binding
875:transcription by RNA polymerase II
764:transcription factor TFIID complex
560:
478:
416:
395:
14:
2229:(6). Stockholm, Sweden: 696–701.
2039:"FluoropyrimidineActivity_WP1601"
1484:XPD helicase is also employed in
1416:that in humans is encoded by the
860:extracellular matrix organization
16:Mammalian protein found in humans
3532:
3531:
3425:Meiotic recombination checkpoint
613:4 iron, 4 sulfur cluster binding
564:
326:
319:
313:
290:
225:
218:
212:
187:
1462:. The XPD protein contains 760
2020:Fluorouracil (5-FU) Activity
870:7-methylguanosine mRNA capping
865:in utero embryonic development
575:More reference expression data
544:More reference expression data
1:
2891:10.1016/S0960-9822(98)70289-1
2837:Journal of Biomedical Science
2167:10.1146/annurev.genet.34.1.77
1504:and is used in unwinding the
945:cell population proliferation
830:multicellular organism growth
311:
210:
3558:Genes on human chromosome 19
3307:Transcription-coupled repair
3042:10.1016/j.dnarep.2005.07.001
2345:10.1016/j.dnarep.2011.04.028
1447:TFIIH and has ATP-dependent
890:transcription, DNA-templated
885:response to oxidative stress
2327:Fuss JO, Tainer JA (2011).
1432:) core complex involved in
1020:embryonic organ development
683:5'-3' DNA helicase activity
643:iron-sulfur cluster binding
432:stromal cell of endometrium
3584:
3329:Non-homologous end joining
3153:Nucleotide excision repair
3146:Poly ADP ribose polymerase
1556:DNA damage theory of aging
1502:nucleotide excision repair
985:nucleotide-excision repair
880:post-embryonic development
663:protein C-terminus binding
638:protein N-terminus binding
3527:
2395:10.1016/j.ccr.2006.05.027
2235:10.1080/02841860152619106
2155:Annual Review of Genetics
2136:"Mouse PubMed Reference:"
2118:"Human PubMed Reference:"
1420:(ERCC excision repair 2)
1396:
1391:
1387:
1380:
1364:
1345:
1326:
1301:
1290:
1271:
1246:
1235:
1222:
1218:
1203:
1199:
1190:
1177:
1173:
1158:
1154:
1145:
1132:
1128:
1113:
1109:
1100:
1085:
1078:
1074:
1058:
850:hair cell differentiation
593:
589:
572:
563:
554:
541:
490:
481:
428:
419:
389:
381:
377:
360:
347:
310:
289:
280:
276:
259:
246:
209:
186:
177:
173:
128:
125:
115:
108:
103:
68:
63:
46:
41:
36:
32:
28:
23:
3324:Homology directed repair
3246:Homologous recombination
3074:Medical Subject Headings
1593:ERCC2 has been shown to
1351:Chr 19: 45.35 – 45.37 Mb
825:hair follicle maturation
3012:10.1093/mutage/17.6.463
2964:Genes & Development
2958:Lehmann AR (Jan 2001).
2765:10.1093/emboj/16.5.1093
2587:10.1093/emboj/16.7.1628
2446:10.1093/mutage/17.6.463
2262:Genetics Home Reference
1627:Interactive pathway map
1358:Chr 7: 19.12 – 19.13 Mb
1005:protein phosphorylation
915:spinal cord development
618:protein kinase activity
3346:Postreplication repair
3141:Uracil-DNA glycosylase
2204:Nucleic Acids Research
2001:
1703:
1548:sensorineural deafness
975:erythrocyte maturation
835:chromosome segregation
526:superior frontal gyrus
502:neural layer of retina
2000:
1702:
1567:Xeroderma pigmentosum
1562:Xeroderma pigmentosum
1536:xeroderma pigmentosum
1525:Clinical significance
1468:xeroderma pigmentosum
648:DNA helicase activity
203:Chromosome 19 (human)
3452:core protein complex
3127:Base excision repair
2298:10.4161/cc.5.24.3565
1573:DNA constructively.
1490:apoptotic cell death
1025:DNA duplex unwinding
673:nucleic acid binding
444:right adrenal cortex
305:Chromosome 7 (mouse)
64:List of PDB id codes
37:Available structures
3224:DNA mismatch repair
2882:1998CBio....8.R447Y
2532:1994Natur.368..769D
1540:trichothiodystrophy
1472:trichothiodystrophy
810:response to hypoxia
800:bone mineralization
698:damaged DNA binding
452:left adrenal cortex
448:ganglionic eminence
436:right adrenal gland
344:7 A3|7 9.62 cM
2977:10.1101/gad.859501
2849:10.1007/BF02253352
2333:DNA Repair (Amst.)
2002:
1704:
1180:ENSMUSG00000030400
820:embryonic cleavage
805:hair cycle process
783:Biological process
712:Cellular component
688:hydrolase activity
628:nucleotide binding
601:Molecular function
440:left adrenal gland
3545:
3544:
3420:Adaptive response
2494:10.1021/bi9524124
1544:Cockayne syndrome
1476:Cockayne syndrome
1445:initiation factor
1410:TFIIH subunit XPD
1407:
1406:
1403:
1402:
1376:
1375:
1341:
1340:
1316:
1315:
1286:
1285:
1261:
1260:
1231:
1230:
1212:
1211:
1186:
1185:
1167:
1166:
1141:
1140:
1122:
1121:
1070:
1069:
980:apoptotic process
774:CAK-ERCC2 complex
653:metal ion binding
633:helicase activity
585:
584:
581:
580:
550:
549:
537:
536:
475:
474:
468:prefrontal cortex
373:
372:
272:
271:
167:ERCC2 - orthologs
99:
98:
95:
94:
47:Ortholog search:
3575:
3535:
3534:
3104:
3097:
3090:
3081:
3053:
3024:
3014:
2989:
2979:
2954:
2936:
2911:
2893:
2860:
2831:
2821:
2787:
2786:
2776:
2753:The EMBO Journal
2744:
2738:
2737:
2727:
2703:
2697:
2696:
2659:
2653:
2652:
2615:
2609:
2608:
2598:
2575:The EMBO Journal
2566:
2560:
2559:
2540:10.1038/368769a0
2526:(6473): 769–72.
2515:
2506:
2505:
2476:
2467:
2466:
2448:
2424:
2418:
2417:
2407:
2397:
2373:
2367:
2366:
2356:
2324:
2318:
2317:
2281:
2272:
2271:
2269:
2268:
2253:
2247:
2246:
2218:
2212:
2211:
2199:
2193:
2192:
2185:
2179:
2178:
2150:
2144:
2143:
2132:
2126:
2125:
2114:
2108:
2098:
2087:
2077:
2043:
2042:
2034:
1940:
1935:
1930:
1925:
1920:
1915:
1910:
1905:
1900:
1895:
1890:
1885:
1880:
1875:
1870:
1865:
1860:
1855:
1850:
1845:
1840:
1835:
1830:
1825:
1820:
1815:
1810:
1805:
1800:
1795:
1790:
1785:
1780:
1775:
1770:
1765:
1760:
1755:
1750:
1745:
1740:
1735:
1730:
1725:
1720:
1715:
1710:
1511:oxidative damage
1389:
1388:
1360:
1353:
1336:
1320:
1311:
1295:
1291:RefSeq (protein)
1281:
1265:
1256:
1240:
1216:
1197:
1171:
1152:
1126:
1107:
1076:
970:skin development
591:
577:
568:
561:
546:
506:ventricular zone
498:Ileal epithelium
486:
484:Top expressed in
479:
456:ventricular zone
424:
422:Top expressed in
417:
396:
379:
369:
356:
345:
330:
323:
317:
306:
294:
278:
268:
255:
244:
229:
222:
216:
205:
191:
175:
169:
120:
113:
90:
61:
55:
34:
33:
21:
3583:
3582:
3578:
3577:
3576:
3574:
3573:
3572:
3548:
3547:
3546:
3541:
3523:
3393:Other/ungrouped
3388:
3367:
3295:
3240:
3136:DNA glycosylase
3119:Excision repair
3113:
3108:
3061:
3056:
3036:(10): 1068–74.
3027:
2992:
2957:
2914:
2870:Current Biology
2863:
2834:
2799:
2795:
2793:Further reading
2790:
2759:(5): 1093–102.
2746:
2745:
2741:
2712:Nature Genetics
2705:
2704:
2700:
2665:Nature Genetics
2661:
2660:
2656:
2621:Nature Genetics
2617:
2616:
2612:
2568:
2567:
2563:
2517:
2516:
2509:
2478:
2477:
2470:
2426:
2425:
2421:
2375:
2374:
2370:
2326:
2325:
2321:
2283:
2282:
2275:
2266:
2264:
2255:
2254:
2250:
2223:Acta Oncologica
2220:
2219:
2215:
2201:
2200:
2196:
2187:
2186:
2182:
2152:
2151:
2147:
2134:
2133:
2129:
2116:
2115:
2111:
2099:
2090:
2078:
2069:
2065:
2053:
2048:
2047:
2046:
2037:
2035:
2031:
2026:
2025:
2024:
2019:
2014:
2013:
2012:
2006:
2005:
2004:
2003:
1999:
1942:
1941:
1938:
1936:
1933:
1931:
1928:
1926:
1923:
1921:
1918:
1916:
1913:
1911:
1908:
1906:
1903:
1901:
1898:
1896:
1893:
1891:
1888:
1886:
1883:
1881:
1878:
1876:
1873:
1871:
1868:
1866:
1863:
1861:
1858:
1856:
1853:
1851:
1848:
1846:
1843:
1841:
1838:
1836:
1833:
1831:
1828:
1826:
1823:
1821:
1818:
1816:
1813:
1811:
1808:
1806:
1803:
1801:
1798:
1796:
1793:
1791:
1788:
1786:
1783:
1781:
1778:
1776:
1773:
1771:
1768:
1766:
1763:
1761:
1758:
1756:
1753:
1751:
1748:
1746:
1743:
1741:
1738:
1736:
1733:
1731:
1728:
1726:
1723:
1721:
1718:
1716:
1713:
1711:
1708:
1705:
1701:
1629:
1591:
1564:
1532:
1527:
1498:
1398:View/Edit Mouse
1393:View/Edit Human
1356:
1349:
1346:Location (UCSC)
1332:
1328:
1307:
1303:
1277:
1273:
1252:
1248:
1161:ENSG00000104884
1054:
778:
707:
668:protein binding
573:
542:
533:
528:
524:
522:muscle of thigh
520:
516:
512:
508:
504:
500:
496:
482:
471:
466:
462:
458:
454:
450:
446:
442:
438:
434:
420:
364:
351:
343:
333:
332:
331:
324:
304:
281:Gene location (
263:
250:
242:
232:
231:
230:
223:
201:
178:Gene location (
129:
116:
109:
70:
48:
17:
12:
11:
5:
3581:
3579:
3571:
3570:
3565:
3560:
3550:
3549:
3543:
3542:
3540:
3539:
3528:
3525:
3524:
3522:
3521:
3516:
3511:
3506:
3501:
3496:
3495:
3494:
3489:
3484:
3479:
3474:
3469:
3464:
3459:
3444:
3443:
3438:
3428:
3427:
3422:
3417:
3412:
3407:
3402:
3396:
3394:
3390:
3389:
3387:
3386:
3381:
3375:
3373:
3369:
3368:
3366:
3365:
3364:
3363:
3358:
3348:
3343:
3338:
3337:
3336:
3326:
3321:
3320:
3319:
3314:
3303:
3301:
3300:Other pathways
3297:
3296:
3294:
3293:
3288:
3283:
3278:
3273:
3272:
3271:
3261:
3256:
3250:
3248:
3242:
3241:
3239:
3238:
3237:
3236:
3231:
3221:
3220:
3219:
3214:
3209:
3204:
3199:
3194:
3189:
3184:
3179:
3174:
3169:
3164:
3150:
3149:
3148:
3143:
3138:
3123:
3121:
3115:
3114:
3109:
3107:
3106:
3099:
3092:
3084:
3078:
3077:
3067:
3060:
3059:External links
3057:
3055:
3054:
3025:
2990:
2955:
2921:Human Mutation
2912:
2876:(13): R447-9.
2861:
2832:
2796:
2794:
2791:
2789:
2788:
2739:
2725:10.1038/ng1387
2698:
2654:
2610:
2581:(7): 1628–37.
2561:
2507:
2488:(7): 2157–67.
2468:
2439:(6): 463–469.
2419:
2368:
2339:(7): 697–713.
2319:
2292:(24): 2886–8.
2273:
2256:Reference GH.
2248:
2213:
2194:
2180:
2145:
2127:
2109:
2088:
2066:
2064:
2061:
2060:
2059:
2052:
2049:
2045:
2044:
2028:
2027:
2016:
2015:
1943:
1937:
1932:
1927:
1922:
1917:
1912:
1907:
1902:
1897:
1892:
1887:
1882:
1877:
1872:
1867:
1862:
1857:
1852:
1847:
1842:
1837:
1832:
1827:
1822:
1817:
1812:
1807:
1802:
1797:
1792:
1787:
1782:
1777:
1772:
1767:
1762:
1757:
1752:
1747:
1742:
1737:
1732:
1727:
1722:
1717:
1712:
1707:
1706:
1645:
1644:
1643:
1642:
1640:
1639:
1638:
1637:
1636:
1635:
1628:
1625:
1624:
1623:
1617:
1611:
1605:
1590:
1587:
1563:
1560:
1531:
1528:
1526:
1523:
1497:
1494:
1405:
1404:
1401:
1400:
1395:
1385:
1384:
1378:
1377:
1374:
1373:
1371:
1369:
1362:
1361:
1354:
1347:
1343:
1342:
1339:
1338:
1324:
1323:
1317:
1314:
1313:
1299:
1298:
1292:
1288:
1287:
1284:
1283:
1269:
1268:
1262:
1259:
1258:
1244:
1243:
1237:
1233:
1232:
1229:
1228:
1220:
1219:
1213:
1210:
1209:
1201:
1200:
1194:
1188:
1187:
1184:
1183:
1175:
1174:
1168:
1165:
1164:
1156:
1155:
1149:
1143:
1142:
1139:
1138:
1130:
1129:
1123:
1120:
1119:
1111:
1110:
1104:
1098:
1097:
1092:
1087:
1083:
1082:
1072:
1071:
1068:
1067:
1056:
1055:
1053:
1052:
1047:
1042:
1037:
1032:
1027:
1022:
1017:
1012:
1007:
1002:
997:
992:
987:
982:
977:
972:
967:
962:
960:response to UV
957:
952:
947:
942:
937:
932:
927:
922:
917:
912:
907:
902:
897:
892:
887:
882:
877:
872:
867:
862:
857:
852:
847:
842:
837:
832:
827:
822:
817:
812:
807:
802:
797:
792:
786:
784:
780:
779:
777:
776:
771:
766:
761:
756:
751:
746:
741:
736:
731:
726:
721:
715:
713:
709:
708:
706:
705:
700:
695:
690:
685:
680:
675:
670:
665:
660:
655:
650:
645:
640:
635:
630:
625:
620:
615:
610:
604:
602:
598:
597:
587:
586:
583:
582:
579:
578:
570:
569:
558:
552:
551:
548:
547:
539:
538:
535:
534:
532:
531:
527:
523:
519:
515:
511:
507:
503:
499:
495:
491:
488:
487:
476:
473:
472:
470:
469:
465:
461:
457:
453:
449:
445:
441:
437:
433:
429:
426:
425:
413:
412:
404:
393:
387:
386:
383:RNA expression
375:
374:
371:
370:
362:
358:
357:
349:
346:
341:
335:
334:
325:
318:
312:
308:
307:
302:
296:
295:
287:
286:
274:
273:
270:
269:
261:
257:
256:
248:
245:
240:
234:
233:
224:
217:
211:
207:
206:
199:
193:
192:
184:
183:
171:
170:
127:
123:
122:
114:
106:
105:
101:
100:
97:
96:
93:
92:
66:
65:
57:
56:
45:
39:
38:
30:
29:
26:
25:
15:
13:
10:
9:
6:
4:
3:
2:
3580:
3569:
3566:
3564:
3561:
3559:
3556:
3555:
3553:
3538:
3530:
3529:
3526:
3520:
3517:
3515:
3512:
3510:
3507:
3505:
3502:
3500:
3497:
3493:
3490:
3488:
3485:
3483:
3480:
3478:
3475:
3473:
3470:
3468:
3465:
3463:
3460:
3458:
3455:
3454:
3453:
3449:
3448:FANC proteins
3446:
3445:
3442:
3439:
3437:
3433:
3430:
3429:
3426:
3423:
3421:
3418:
3416:
3413:
3411:
3408:
3406:
3403:
3401:
3398:
3397:
3395:
3391:
3385:
3382:
3380:
3377:
3376:
3374:
3370:
3362:
3359:
3357:
3354:
3353:
3352:
3349:
3347:
3344:
3342:
3339:
3335:
3332:
3331:
3330:
3327:
3325:
3322:
3318:
3315:
3313:
3310:
3309:
3308:
3305:
3304:
3302:
3298:
3292:
3289:
3287:
3284:
3282:
3279:
3277:
3274:
3270:
3269:RecQ helicase
3267:
3266:
3265:
3262:
3260:
3257:
3255:
3252:
3251:
3249:
3247:
3243:
3235:
3232:
3230:
3227:
3226:
3225:
3222:
3218:
3215:
3213:
3210:
3208:
3205:
3203:
3200:
3198:
3195:
3193:
3190:
3188:
3185:
3183:
3180:
3178:
3175:
3173:
3170:
3168:
3165:
3163:
3160:
3159:
3158:
3154:
3151:
3147:
3144:
3142:
3139:
3137:
3134:
3133:
3132:
3128:
3125:
3124:
3122:
3120:
3116:
3112:
3105:
3100:
3098:
3093:
3091:
3086:
3085:
3082:
3075:
3071:
3070:ERCC2+Protein
3068:
3066:
3063:
3062:
3058:
3051:
3047:
3043:
3039:
3035:
3031:
3026:
3022:
3018:
3013:
3008:
3004:
3000:
2996:
2991:
2987:
2983:
2978:
2973:
2969:
2965:
2961:
2956:
2952:
2948:
2944:
2940:
2935:
2930:
2926:
2922:
2918:
2913:
2909:
2905:
2901:
2897:
2892:
2887:
2883:
2879:
2875:
2871:
2867:
2862:
2858:
2854:
2850:
2846:
2842:
2838:
2833:
2829:
2825:
2820:
2815:
2812:(1): 167–74.
2811:
2807:
2803:
2798:
2797:
2792:
2784:
2780:
2775:
2770:
2766:
2762:
2758:
2754:
2750:
2743:
2740:
2735:
2731:
2726:
2721:
2717:
2713:
2709:
2702:
2699:
2694:
2690:
2686:
2682:
2678:
2677:10.1038/81603
2674:
2671:(3): 307–13.
2670:
2666:
2658:
2655:
2650:
2646:
2642:
2638:
2634:
2630:
2626:
2622:
2614:
2611:
2606:
2602:
2597:
2592:
2588:
2584:
2580:
2576:
2572:
2565:
2562:
2557:
2553:
2549:
2545:
2541:
2537:
2533:
2529:
2525:
2521:
2514:
2512:
2508:
2503:
2499:
2495:
2491:
2487:
2483:
2475:
2473:
2469:
2464:
2460:
2456:
2452:
2447:
2442:
2438:
2434:
2430:
2423:
2420:
2415:
2411:
2406:
2401:
2396:
2391:
2388:(2): 121–32.
2387:
2383:
2379:
2372:
2369:
2364:
2360:
2355:
2350:
2346:
2342:
2338:
2334:
2330:
2323:
2320:
2315:
2311:
2307:
2303:
2299:
2295:
2291:
2287:
2280:
2278:
2274:
2263:
2259:
2252:
2249:
2244:
2240:
2236:
2232:
2228:
2224:
2217:
2214:
2209:
2205:
2198:
2195:
2190:
2184:
2181:
2176:
2172:
2168:
2164:
2160:
2156:
2149:
2146:
2141:
2137:
2131:
2128:
2123:
2119:
2113:
2110:
2106:
2102:
2097:
2095:
2093:
2089:
2085:
2081:
2076:
2074:
2072:
2068:
2062:
2058:
2055:
2054:
2050:
2040:
2033:
2030:
2023:
2018:
2010:
1947:
1649:
1634:
1633:
1626:
1621:
1618:
1615:
1612:
1609:
1606:
1603:
1600:
1599:
1598:
1596:
1588:
1586:
1582:
1578:
1574:
1570:
1568:
1561:
1559:
1557:
1553:
1549:
1545:
1541:
1537:
1529:
1524:
1522:
1518:
1514:
1512:
1507:
1503:
1495:
1493:
1491:
1487:
1482:
1479:
1477:
1473:
1469:
1465:
1461:
1457:
1452:
1450:
1446:
1442:
1437:
1435:
1431:
1427:
1423:
1419:
1415:
1411:
1399:
1394:
1390:
1386:
1383:
1379:
1372:
1370:
1367:
1363:
1359:
1355:
1352:
1348:
1344:
1337:
1335:
1331:
1325:
1321:
1318:
1312:
1310:
1306:
1300:
1296:
1293:
1289:
1282:
1280:
1276:
1270:
1266:
1263:
1257:
1255:
1251:
1245:
1241:
1238:
1236:RefSeq (mRNA)
1234:
1227:
1226:
1221:
1217:
1214:
1208:
1207:
1202:
1198:
1195:
1193:
1189:
1182:
1181:
1176:
1172:
1169:
1163:
1162:
1157:
1153:
1150:
1148:
1144:
1137:
1136:
1131:
1127:
1124:
1118:
1117:
1112:
1108:
1105:
1103:
1099:
1096:
1093:
1091:
1088:
1084:
1081:
1077:
1073:
1066:
1062:
1057:
1051:
1048:
1046:
1043:
1041:
1038:
1036:
1033:
1031:
1028:
1026:
1023:
1021:
1018:
1016:
1013:
1011:
1008:
1006:
1003:
1001:
1000:viral process
998:
996:
993:
991:
988:
986:
983:
981:
978:
976:
973:
971:
968:
966:
963:
961:
958:
956:
953:
951:
948:
946:
943:
941:
938:
936:
933:
931:
928:
926:
923:
921:
920:UV protection
918:
916:
913:
911:
908:
906:
903:
901:
898:
896:
893:
891:
888:
886:
883:
881:
878:
876:
873:
871:
868:
866:
863:
861:
858:
856:
853:
851:
848:
846:
843:
841:
838:
836:
833:
831:
828:
826:
823:
821:
818:
816:
813:
811:
808:
806:
803:
801:
798:
796:
793:
791:
788:
787:
785:
782:
781:
775:
772:
770:
767:
765:
762:
760:
757:
755:
752:
750:
747:
745:
742:
740:
737:
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730:
727:
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722:
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710:
704:
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689:
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664:
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639:
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634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
609:
606:
605:
603:
600:
599:
596:
595:Gene ontology
592:
588:
576:
571:
567:
562:
559:
557:
553:
545:
540:
529:
525:
521:
517:
513:
509:
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501:
497:
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492:
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485:
480:
477:
467:
463:
459:
455:
451:
447:
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431:
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427:
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418:
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402:
398:
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388:
384:
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368:
363:
359:
355:
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336:
329:
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309:
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297:
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288:
284:
279:
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267:
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228:
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176:
172:
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156:
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148:
144:
140:
136:
132:
124:
119:
112:
107:
102:
91:
89:
85:
81:
77:
73:
67:
62:
59:
58:
54:
51:
44:
40:
35:
31:
27:
22:
19:
3451:
3432:DNA helicase
3415:8-Oxoguanine
3384:SOS response
3264:RecF pathway
3217:Excinuclease
3176:
3033:
3029:
3005:(6): 463–9.
3002:
2998:
2970:(1): 15–23.
2967:
2963:
2924:
2920:
2873:
2869:
2840:
2836:
2809:
2805:
2756:
2752:
2742:
2718:(7): 714–9.
2715:
2711:
2701:
2668:
2664:
2657:
2633:10.1038/2491
2627:(2): 184–8.
2624:
2620:
2613:
2578:
2574:
2564:
2523:
2519:
2485:
2482:Biochemistry
2481:
2436:
2432:
2422:
2385:
2381:
2371:
2336:
2332:
2322:
2289:
2285:
2265:. Retrieved
2261:
2258:"ERCC2 gene"
2251:
2226:
2222:
2216:
2207:
2203:
2197:
2183:
2158:
2154:
2148:
2139:
2130:
2121:
2112:
2032:
1631:
1630:
1592:
1589:Interactions
1583:
1579:
1575:
1571:
1565:
1533:
1519:
1515:
1499:
1483:
1480:
1453:
1438:
1428:factor IIH (
1417:
1409:
1408:
1334:NP_001350910
1327:
1309:NP_001124339
1302:
1279:NM_001363981
1272:
1254:NM_001130867
1247:
1223:
1204:
1178:
1159:
1133:
1114:
1094:
1089:
855:human ageing
754:MMXD complex
744:cytoskeleton
494:spermatocyte
460:right testis
406:
399:
126:External IDs
69:
18:
2999:Mutagenesis
2927:(1): 9–22.
2843:(1): 24–7.
2433:Mutagenesis
2382:Cancer Cell
1464:amino acids
1439:Along with
759:nucleoplasm
693:ATP binding
608:DNA binding
464:left testis
365:19,129,619
352:19,115,935
264:45,370,918
251:45,349,837
104:Identifiers
3552:Categories
3372:Regulation
3351:Photolyase
3111:DNA repair
3030:DNA Repair
2405:10029/5565
2286:Cell Cycle
2267:2020-04-16
2161:: 77–137.
2107:, May 2017
2086:, May 2017
2063:References
1488:-mediated
1426:DNA repair
995:DNA repair
410:(ortholog)
147:HomoloGene
3568:Oncogenes
3563:Helicases
3192:XPG/ERCC5
3177:XPD/ERCC2
2455:0267-8357
1530:Mutations
1330:NP_031975
1305:NP_000391
1275:NM_007949
1250:NM_000400
1080:Orthologs
719:cytoplasm
530:spermatid
155:GeneCards
3537:Category
3187:XPF/DDB1
3182:XPE/DDB1
3050:16054878
3021:12435843
2986:11156600
2951:24148589
2943:10447254
2908:15480646
2734:15220921
2693:25233797
2685:11062469
2649:28250605
2463:12435843
2414:16904611
2363:21571596
2314:43682426
2306:17172862
2243:11765063
2175:11092823
2103:–
2082:–
2051:See also
1595:interact
1552:cachexia
1496:Function
1449:helicase
1382:Wikidata
1059:Sources:
514:yolk sac
510:epiblast
243:19q13.32
3379:SOS box
3131:AP site
2900:9651670
2878:Bibcode
2857:9570510
2828:7825573
2819:1801309
2783:9118947
2774:1169708
2641:9771713
2605:9130708
2596:1169767
2556:4363484
2548:8152490
2528:Bibcode
2502:8652557
2354:3234290
2105:Ensembl
2084:Ensembl
1641:[[File:
1460:introns
1458:and 21
1414:protein
1192:UniProt
1147:Ensembl
1086:Species
1065:QuickGO
769:cytosol
749:nucleus
729:spindle
385:pattern
111:Aliases
3504:FANCD2
3499:FANCD1
3259:RecBCD
3212:RAD23B
3207:RAD23A
3076:(MeSH)
3048:
3019:
2984:
2949:
2941:
2906:
2898:
2855:
2826:
2816:
2781:
2771:
2732:
2691:
2683:
2647:
2639:
2603:
2593:
2554:
2546:
2520:Nature
2500:
2461:
2453:
2412:
2361:
2351:
2312:
2304:
2241:
2173:
1616:, and
1614:GTF2H2
1608:GTF2H1
1597:with:
1538:(XP),
1474:, and
1368:search
1366:PubMed
1225:O08811
1206:P18074
1102:Entrez
556:BioGPS
135:126340
3519:FANCN
3514:FANCJ
3509:FANCI
3492:FANCM
3487:FANCL
3482:FANCG
3477:FANCF
3472:FANCE
3467:FANCC
3462:FANCB
3457:FANCA
3317:ERCC8
3312:ERCC6
3276:RAD51
3197:ERCC1
2947:S2CID
2904:S2CID
2689:S2CID
2645:S2CID
2552:S2CID
2310:S2CID
2210:(11).
1602:ERCC5
1456:exons
1430:TFIIH
1418:ERCC2
1412:is a
1135:13871
1095:Mouse
1090:Human
1061:Amigo
408:Mouse
401:Human
348:Start
283:Mouse
247:Start
180:Human
159:ERCC2
143:95413
118:ERCC2
24:ERCC2
3405:PcrA
3361:CRY2
3356:CRY1
3291:LexA
3286:Slx4
3281:Sgs1
3254:RecA
3234:MSH2
3229:MLH1
3157:ERCC
3046:PMID
3017:PMID
2982:PMID
2939:PMID
2896:PMID
2853:PMID
2824:PMID
2779:PMID
2730:PMID
2681:PMID
2637:PMID
2601:PMID
2544:PMID
2498:PMID
2459:PMID
2451:ISSN
2410:PMID
2359:PMID
2302:PMID
2239:PMID
2171:PMID
2022:edit
2009:edit
1422:gene
1116:2068
391:Bgee
339:Band
300:Chr.
238:Band
197:Chr.
131:OMIM
88:5IY6
84:5IY8
80:5IY7
76:5IVW
72:5IY9
53:RCSB
50:PDBe
3441:WRN
3436:BLM
3400:Ogt
3202:RPA
3172:XPC
3167:XPB
3162:XPA
3038:doi
3007:doi
2972:doi
2929:doi
2886:doi
2845:doi
2814:PMC
2769:PMC
2761:doi
2720:doi
2673:doi
2629:doi
2591:PMC
2583:doi
2536:doi
2524:368
2490:doi
2441:doi
2400:hdl
2390:doi
2349:PMC
2341:doi
2294:doi
2231:doi
2163:doi
1620:XPB
1558:).
1506:DNA
1486:p53
1441:XPB
518:lip
361:End
260:End
163:OMA
151:344
139:MGI
43:PDB
3554::
3450::
3434::
3334:Ku
3044:.
3032:.
3015:.
3003:17
3001:.
2997:.
2980:.
2968:15
2966:.
2962:.
2945:.
2937:.
2925:14
2923:.
2919:.
2902:.
2894:.
2884:.
2872:.
2868:.
2851:.
2839:.
2822:.
2810:56
2808:.
2804:.
2777:.
2767:.
2757:16
2755:.
2751:.
2728:.
2716:36
2714:.
2710:.
2687:.
2679:.
2669:26
2667:.
2643:.
2635:.
2625:20
2623:.
2599:.
2589:.
2579:16
2577:.
2573:.
2550:.
2542:.
2534:.
2522:.
2510:^
2496:.
2486:35
2484:.
2471:^
2457:.
2449:.
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2435:.
2431:.
2408:.
2398:.
2386:10
2384:.
2380:.
2357:.
2347:.
2337:10
2335:.
2331:.
2308:.
2300:.
2288:.
2276:^
2260:.
2237:.
2227:40
2225:.
2208:43
2206:.
2169:.
2159:34
2157:.
2138:.
2120:.
2091:^
2070:^
2011:]]
1513:.
1492:.
1478:.
1436:.
1063:/
367:bp
354:bp
266:bp
253:bp
161:;
157::
153:;
149::
145:;
141::
137:;
133::
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3040::
3034:4
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2041:.
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1934:]
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1714:]
1709:]
1622:.
1610:,
1604:,
285:)
182:)
165::
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