1348::Fewer than 10 mutations in the COL2A1 gene have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type. Most of these mutations change a single protein building block (amino acid) in the pro-alpha1(II) chain. These COL2A1 mutations lead to the production of an abnormal version of the pro-alpha1(II) chain that cannot be incorporated into type II collagen fibers. As a result, cells make a reduced amount of type II collagen. Instead of forming collagen molecules, the abnormal pro-alpha1(II) chains build up in cartilage cells (chondrocytes). These changes disrupt normal bone development, resulting in skeletal abnormalities such as short arms and legs, a small chest, flattened vertebrae, and short fingers and toes.
309:
286:
208:
183:
1378:: Mutations that cause spondyloperipheral dysplasia lead to the production of an abnormally short pro-alpha1(II) chain that cannot be incorporated into type II collagen fibers. As a result, cells make a reduced amount of type II collagen. Instead of forming collagen molecules, the abnormal pro-alpha1(II) chains build up in cartilage cells (chondrocytes). These changes disrupt normal bone development, resulting in flattened vertebrae, short fingers and toes, and the other features of spondyloperipheral dysplasia.
1354:: Several different types of mutations in the COL2A1 gene are responsible for hypochondrogenesis. These mutations may include missing pieces of the COL2A1 gene, the substitution of the building-block amino acid glycine with another amino acid, or changes that leave out important parts of the protein. All of these changes interfere with the formation of mature triple-stranded type II collagen molecules, which results in this type of hypochondrogenesis by affecting tissues that are rich in type II collagen.
1384:: Several of the mutations in the COL2A1 gene result in the production of an abnormally short protein that cannot be incorporated into a type II collagen fiber. Most of the mutations in COL2A1 that cause Stickler syndrome, however, have a premature stop signal in one copy of the gene. Because of this, cells produce only half of the normal amount of pro-alpha 1(II) collagen chains. This shortage results in underproduction of type II collagen in cartilage, causing the symptoms of Stickler syndrome, COL2A1.
1372:: Spondyloepimetaphyseal dysplasia congenita can be caused by several types of mutations in the COL2A1 gene. These mutations may result in the incorrect substitution of an amino acid in the pro-alpha1(II) chain or the production of an abnormally short pro-alpha1(II) chain. All of these changes interfere with the formation of mature triple-stranded type II collagen molecules, which results in this type of spondyloepimetaphyseal dysplasia congenita by affecting tissues that are rich in type II collagen.
1366:: All of the mutations in the COL2A1 gene characterized to date cause an amino acid switch in the pro-alpha1(II) chain of type II collagen; specifically, the amino acid glycine is replaced by a different amino acid. The substitution of another amino acid for glycine in this chain inhibits the formation of stable, triple-stranded, ropelike collagen molecules. This results in spondyloepimetaphyseal dysplasia, Strudwick type by affecting tissues that are rich in type II collagen.
315:
214:
28:
1360:: Most of the mutations responsible for Kniest dysplasia cause abnormally short pro-alpha1(II) collagen chains to be produced in the cell. These short chains join with longer, normal-length collagen chains. The resulting abnormal type II collagen molecules are shorter than normal, causing the signs and symptoms of Kniest dysplasia.
2110:
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A (February 2005). "Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define
1387:
Other disorders with an increased risk from variations of the COL2A1 gene: Variations in the COL2A1 gene may increase the risk of developing osteoarthritis (OA), a degenerative disease of joint cartilage, in some people. The variations in this gene result in amino acid changes in the pro-alpha1(II)
1298:
molecule. These procollagen molecules must be processed by enzymes in the cell. Once these molecules are processed, they leave the cell and arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-linkages result in the formation of very strong
54:
1778:
Meulenbelt I, Bijkerk C, De Wildt SC, Miedema HS, Breedveld FC, Pols HA, Hofman A, Van Duijn CM, Slagboom PE (September 1999). "Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis".
1983:
Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM (September 2003). "A glycine to aspartic acid substitution of COL2A1 in a family with the
Strudwick variant of spondyloepimetaphyseal dysplasia".
2148:
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A (August 2004). "Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1".
1945:
Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR (September 1995). "Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type".
322:
221:
1388:
chain of type II collagen. These changes in the collagen fibers of the joints are thought to play a role in the wearing down of joint cartilage, resulting in the signs and symptoms of osteoarthritis.
1677:
Fernandes RJ, Wilkin DJ, Weis MA, Wilcox WR, Cohn DH, Rimoin DL, Eyre DR (July 1998). "Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia".
1342:
to be left out. All of these mutations prevent the normal production of mature type II collagen, which results in achondrogenesis, type 2 by affecting tissues that are rich in type II collagen.
1648:
Donoso LA, Edwards AO, Frost AT, Ritter R, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S (2003). "Clinical variability of
Stickler syndrome: role of exon 2 of the collagen COL2A1 gene".
2081:
Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A (May 1996). "A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia".
1330:: Several kinds of mutations in the COL2A1 gene are responsible for achondrogenesis, type 2. These mutations may include missing pieces of the COL2A1 gene, substitution of the
1861:"Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix"
1749:
Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ (May 2000). "Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis".
1255:
1345:
1818:"Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder"
1708:"Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population"
929:
144:
1706:
Ikeda T, Mabuchi A, Fukuda A, Kawakami A, Ryo Y, Yamamoto S, Miyoshi K, Haga N, Hiraoka H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S (July 2002).
910:
1363:
1259:
1466:
1448:
2220:
2094:
2065:
2853:
2256:
1762:
1562:"A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage"
1145:
1152:
1484:
1369:
2048:
Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH (July 1999).
2938:
1431:
115:, AOM, COL11A3, Cartilage collagen, ANFH, STL1, collagen type II alpha 1, collagen type II alpha 1 chain, SEDC, Collagen II
51:
2904:
1410:
1816:
Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH (April 2000).
308:
2198:
2015:"Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation"
1485:"Entrez Gene: COL2A1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"
285:
1435:
1414:
2914:
2249:
1247:
974:
2636:
2540:
2515:
2193:
1270:. There are two transcripts identified for this gene. Type II collagen, which adds structure and strength to
207:
182:
955:
2668:
2597:
2535:
2530:
1375:
124:
2586:
2545:
2432:
2427:
2422:
2416:
2335:
1266:, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with
1230:
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the
321:
220:
2624:
2560:
2503:
2475:
2465:
2395:
1500:"A retrotransposon gag-like-3 gene RTL3 and SOX-9 co-regulate the expression of COL2A1 in chondrocytes"
314:
213:
2613:
2348:
2310:
2242:
111:
1859:
Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (November 2000).
1294:(nucleus pulposus). Three pro-alpha1(II) chains twist together to form a triple-stranded, ropelike
1124:
1069:
132:
2013:
Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR (February 1998).
1128:
1103:
1099:
1073:
1048:
1044:
2217:
1327:
2682:
1303:
1205:
Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
196:
152:
2277:
1608:
8:
2509:
1612:
2848:
2659:
2174:
2136:
1971:
1928:
1903:
1885:
1860:
1842:
1817:
1804:
1792:
1737:
1532:
1499:
1351:
156:
1876:
1661:
1631:
1596:
844:
839:
834:
829:
824:
819:
814:
809:
804:
799:
794:
789:
784:
779:
774:
769:
764:
759:
754:
749:
744:
739:
734:
729:
724:
719:
714:
709:
704:
699:
694:
678:
673:
668:
663:
658:
653:
648:
643:
638:
622:
617:
612:
607:
602:
597:
592:
2663:
2454:
2166:
2128:
2098:
2069:
2036:
2001:
1963:
1933:
1890:
1847:
1796:
1766:
1729:
1694:
1665:
1636:
1583:
1537:
1519:
1381:
1271:
104:
44:
2229:
2178:
2140:
1975:
1808:
1741:
2778:
2773:
2734:
2729:
2724:
2719:
2714:
2459:
2323:
2158:
2120:
2090:
2061:
2026:
1993:
1955:
1923:
1915:
1880:
1872:
1837:
1829:
1788:
1758:
1719:
1686:
1657:
1626:
1616:
1573:
1527:
1511:
1357:
1291:
1267:
1251:
1239:
1219:
401:
332:
276:
231:
1515:
136:
2899:
2756:
2751:
2746:
2342:
2304:
2224:
1597:"Identification and characterization of the human type II collagen gene (COL2A1)"
1279:
1235:
740:
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
376:
160:
1724:
1707:
1471:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1453:
National Center for
Biotechnology Information, U.S. National Library of Medicine
2386:
2212:
2207:
2050:"Small deletions in the type II collagen triple helix produce kniest dysplasia"
1601:
Proceedings of the
National Academy of Sciences of the United States of America
1231:
477:
2932:
2687:
2651:
2269:
1523:
1310:
46,653,017 to base pair 46,684,527. The expression of COL2A1 is regulated by
1263:
1243:
1218:
that provides instructions for the production of the pro-alpha1(II) chain of
579:
2095:
10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P
537:
415:
2811:
2170:
2132:
2073:
2066:
10.1002/(SICI)1096-8628(19990716)85:2<105::AID-AJMG2>3.0.CO;2-Z
2031:
2014:
2005:
1997:
1937:
1894:
1851:
1800:
1770:
1733:
1690:
1669:
1621:
1578:
1561:
1541:
394:
173:
2234:
2102:
2040:
1967:
1763:
10.1002/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9
1698:
1640:
1587:
1192:
1187:
2889:
2818:
2554:
2499:
2162:
2124:
1919:
1833:
1295:
1019:
1000:
2520:
1331:
603:
extracellular matrix structural constituent conferring tensile strength
293:
190:
140:
1959:
1338:
with another amino acid, or changes that cause important parts of the
81:
77:
73:
1307:
1287:
1283:
1275:
874:
360:
347:
259:
246:
148:
2049:
1595:
Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E (May 1985).
2672:
2288:
1176:
2894:
2885:
2833:
2806:
2701:
2677:
2641:
2629:
2447:
2442:
2437:
2365:
2265:
1339:
1335:
986:
941:
859:
855:
770:
cartilage development involved in endochondral bone morphogenesis
1777:
1560:
Chan D, Cole WG, Chow CW, Mundlos S, Bateman JF (January 1995).
1498:
Ball HC, Ansari MY, Ahmad N, Novak K, Haqqi TM (November 2021).
128:
2838:
2602:
2575:
2570:
2565:
2490:
2485:
2480:
2470:
2405:
2400:
2358:
2353:
2315:
1160:
896:
2080:
2863:
2858:
2828:
2823:
2801:
2783:
2761:
2370:
1311:
1212:
2843:
2109:
1315:
1215:
2202:
2147:
1705:
1594:
1748:
1676:
1944:
1858:
1647:
384:
2111:
a novel subfamily within the type 2 collagenopathies".
1982:
1815:
1346:
Platyspondylic lethal skeletal dysplasia, Torrance type
1278:, the jelly-like substance that fills the eyeball (the
1234:
of the eye. Mutations in this gene are associated with
27:
2047:
1904:"Clinical and Molecular genetics of Stickler syndrome"
549:
1497:
2012:
1559:
2194:GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome
1427:
1425:
1423:
1406:
1404:
1402:
1302:The COL2A1 gene is located on the long (q) arm of
1286:, and the center portion of the discs between the
331:
230:
2930:
1364:Spondyloepimetaphyseal dysplasia, Strudwick type
1420:
1399:
1260:spondyloepimetaphyseal dysplasia Strudwick type
1432:GRCm38: Ensembl release 89: ENSMUSG00000022483
2250:
2264:
2151:American Journal of Medical Genetics Part A
2113:American Journal of Medical Genetics Part A
1411:GRCh38: Ensembl release 89: ENSG00000139219
608:extracellular matrix structural constituent
2257:
2243:
1901:
2030:
1927:
1884:
1841:
1723:
1630:
1620:
1577:
1531:
679:collagen-containing extracellular matrix
2287:
1679:Archives of Biochemistry and Biophysics
1306:between positions 13.11 and 13.2, from
1242:, early onset familial osteoarthritis,
512:set of bones of free part of upper limb
2931:
1370:Spondyloepiphyseal dysplasia congenita
825:embryonic skeletal joint morphogenesis
598:platelet-derived growth factor binding
2238:
1321:
1262:. In addition, defects in processing
336:
297:
292:
235:
194:
189:
2083:American Journal of Medical Genetics
2054:American Journal of Medical Genetics
1751:American Journal of Medical Genetics
1712:Journal of Bone and Mineral Research
1314:and retrotransposon gag-like-3 gene
2905:Cartilage oligomeric matrix protein
2019:The Journal of Biological Chemistry
1566:The Journal of Biological Chemistry
13:
1865:American Journal of Human Genetics
1793:10.1046/j.1469-1809.1999.6350393.x
1552:
700:central nervous system development
14:
2950:
2187:
810:cellular response to BMP stimulus
800:extracellular matrix organization
1299:mature type II collagen fibers.
320:
313:
307:
284:
219:
212:
206:
181:
26:
1902:Snead MP, Yates JR (May 1999).
1491:
1477:
1459:
1441:
1248:Langer-Saldino achondrogenesis
695:proteoglycan metabolic process
538:More reference expression data
1:
1877:10.1016/S0002-9297(07)62938-3
1662:10.1016/S0039-6257(02)00460-5
1516:10.1080/03008207.2020.1828380
1392:
805:skeletal system morphogenesis
790:regulation of gene expression
765:regulation of immune response
492:vestibular sensory epithelium
305:
204:
2939:Genes on human chromosome 12
2669:Cartilage associated protein
1376:Spondyloperipheral dysplasia
715:collagen fibril organization
618:MHC class II protein binding
7:
1908:Journal of Medical Genetics
1822:Journal of Medical Genetics
1725:10.1359/jbmr.2002.17.7.1290
1225:
780:skeletal system development
710:chondrocyte differentiation
639:endoplasmic reticulum lumen
10:
2955:
1504:Connective Tissue Research
785:collagen catabolic process
2878:
2794:
2700:
2650:
2379:
2296:
2276:
1467:"Mouse PubMed Reference:"
1449:"Human PubMed Reference:"
1191:
1186:
1182:
1175:
1159:
1140:
1121:
1117:
1096:
1092:
1085:
1066:
1062:
1041:
1037:
1030:
1017:
1013:
998:
994:
985:
972:
968:
953:
949:
940:
927:
923:
908:
904:
895:
880:
873:
869:
853:
845:anterior head development
820:roof of mouth development
705:endochondral ossification
593:identical protein binding
578:
574:
562:
557:
548:
535:
484:
475:
422:
413:
383:
375:
371:
354:
341:
304:
283:
274:
270:
253:
240:
203:
180:
171:
167:
122:
119:
109:
102:
97:
70:
65:
48:
43:
38:
34:
25:
20:
2213:nucleotide substitutions
1781:Annals of Human Genetics
1274:, is found primarily in
1256:Stickler syndrome type I
730:otic vesicle development
2203:Genetics Home Reference
1650:Survey of Ophthalmology
1153:Chr 15: 97.87 – 97.9 Mb
750:inner ear morphogenesis
644:collagen type II trimer
2208:small deletion defects
2032:10.1074/jbc.273.8.4761
1691:10.1006/abbi.1998.0745
1622:10.1073/pnas.82.9.2555
1579:10.1074/jbc.270.4.1747
1328:Achondrogenesis type 2
840:cartilage condensation
338:15 F1|15 53.97 cM
2683:Procollagen peptidase
1146:Chr 12: 47.97 – 48 Mb
830:cartilage development
755:inner ear development
735:notochord development
299:Chromosome 15 (mouse)
197:Chromosome 12 (human)
2218:Definition of COL2A1
2163:10.1002/ajmg.a.30222
2125:10.1002/ajmg.a.30531
1998:10.1093/qjmed/hcg112
1920:10.1136/jmg.36.5.353
1834:10.1136/jmg.37.4.263
674:extracellular region
654:extracellular matrix
623:proteoglycan binding
66:List of PDB id codes
39:Available structures
1613:1985PNAS...82.2555C
745:heart morphogenesis
669:extracellular space
2849:Matrix gla protein
2660:Prolyl hydroxylase
2223:2012-08-09 at the
1352:Hypochondrogenesis
1322:Related conditions
1272:connective tissues
975:ENSMUSG00000022483
835:limb bud formation
760:tissue homeostasis
725:limb morphogenesis
688:Biological process
632:Cellular component
586:Molecular function
488:tibiofemoral joint
450:tail of epididymis
161:COL2A1 - orthologs
2923:
2922:
2874:
2873:
2696:
2695:
2664:Lysyl hydroxylase
2455:basement membrane
1960:10.1038/ng0995-87
1787:(Pt 5): 393–400.
1382:Stickler syndrome
1318:in chondrocytes.
1202:
1201:
1198:
1197:
1171:
1170:
1136:
1135:
1111:
1110:
1081:
1080:
1056:
1055:
1026:
1025:
1007:
1006:
981:
980:
962:
961:
936:
935:
917:
916:
865:
864:
815:visual perception
664:basement membrane
613:metal ion binding
570:
569:
566:
565:
544:
543:
531:
530:
469:
468:
434:corpus epididymis
367:
366:
266:
265:
93:
92:
89:
88:
49:Ortholog search:
2946:
2294:
2293:
2285:
2284:
2259:
2252:
2245:
2236:
2235:
2182:
2144:
2106:
2077:
2044:
2034:
2009:
1979:
1941:
1931:
1898:
1888:
1855:
1845:
1812:
1774:
1745:
1727:
1702:
1673:
1644:
1634:
1624:
1591:
1581:
1546:
1545:
1535:
1495:
1489:
1488:
1481:
1475:
1474:
1463:
1457:
1456:
1445:
1439:
1429:
1418:
1408:
1358:Kniest dysplasia
1268:chondrodysplasia
1252:Kniest dysplasia
1240:chondrodysplasia
1220:type II collagen
1207:, also known as
1184:
1183:
1155:
1148:
1131:
1115:
1114:
1106:
1090:
1089:
1086:RefSeq (protein)
1076:
1060:
1059:
1051:
1035:
1034:
1011:
1010:
992:
991:
966:
965:
947:
946:
921:
920:
902:
901:
871:
870:
795:bone development
576:
575:
555:
554:
540:
480:
478:Top expressed in
473:
472:
430:cartilage tissue
418:
416:Top expressed in
411:
410:
390:
389:
373:
372:
363:
350:
339:
324:
317:
311:
300:
288:
272:
271:
262:
249:
238:
223:
216:
210:
199:
185:
169:
168:
163:
114:
107:
84:
63:
62:
57:
36:
35:
30:
18:
17:
2954:
2953:
2949:
2948:
2947:
2945:
2944:
2943:
2929:
2928:
2926:
2924:
2919:
2870:
2790:
2692:
2646:
2529:transmembrane:
2375:
2279:
2272:
2263:
2225:Wayback Machine
2190:
2185:
1948:Nature Genetics
1555:
1553:Further reading
1550:
1549:
1496:
1492:
1483:
1482:
1478:
1465:
1464:
1460:
1447:
1446:
1442:
1430:
1421:
1409:
1400:
1395:
1334:building-block
1324:
1236:achondrogenesis
1228:
1193:View/Edit Mouse
1188:View/Edit Human
1151:
1144:
1141:Location (UCSC)
1127:
1123:
1102:
1098:
1072:
1068:
1047:
1043:
956:ENSG00000139219
849:
683:
627:
536:
527:
522:
518:
514:
510:
506:
502:
500:cartilage organ
498:
494:
490:
476:
465:
460:
458:pituitary gland
456:
452:
448:
446:trabecular bone
444:
440:
436:
432:
428:
414:
358:
345:
337:
327:
326:
325:
318:
298:
275:Gene location (
257:
244:
236:
226:
225:
224:
217:
195:
172:Gene location (
123:
110:
103:
72:
50:
12:
11:
5:
2952:
2942:
2941:
2921:
2920:
2918:
2917:
2912:
2908:
2907:
2902:
2897:
2892:
2882:
2880:
2876:
2875:
2872:
2871:
2869:
2868:
2867:
2866:
2861:
2851:
2846:
2841:
2836:
2831:
2826:
2821:
2816:
2815:
2814:
2804:
2798:
2796:
2792:
2791:
2789:
2788:
2787:
2786:
2781:
2776:
2766:
2765:
2764:
2759:
2754:
2749:
2739:
2738:
2737:
2732:
2727:
2722:
2717:
2706:
2704:
2698:
2697:
2694:
2693:
2691:
2690:
2685:
2680:
2675:
2666:
2656:
2654:
2648:
2647:
2645:
2644:
2639:
2634:
2633:
2632:
2627:
2617:
2607:
2606:
2605:
2600:
2590:
2580:
2579:
2578:
2573:
2568:
2563:
2549:
2548:
2543:
2538:
2533:
2526:
2525:
2524:
2523:
2518:
2506:
2496:
2495:
2494:
2493:
2488:
2483:
2478:
2473:
2468:
2451:
2450:
2445:
2440:
2435:
2430:
2425:
2420:
2410:
2409:
2408:
2403:
2398:
2383:
2381:
2377:
2376:
2374:
2373:
2368:
2363:
2362:
2361:
2356:
2351:
2339:
2332:
2320:
2319:
2318:
2313:
2300:
2298:
2297:Fibril forming
2291:
2282:
2278:Extracellular
2274:
2273:
2270:scleroproteins
2262:
2261:
2254:
2247:
2239:
2233:
2232:
2227:
2215:
2210:
2205:
2196:
2189:
2188:External links
2186:
2184:
2183:
2145:
2107:
2078:
2045:
2010:
1980:
1942:
1899:
1871:(5): 1083–94.
1856:
1813:
1775:
1746:
1703:
1674:
1656:(2): 191–203.
1645:
1592:
1572:(4): 1747–53.
1556:
1554:
1551:
1548:
1547:
1510:(6): 615–628.
1490:
1476:
1458:
1440:
1419:
1397:
1396:
1394:
1391:
1390:
1389:
1385:
1379:
1373:
1367:
1361:
1355:
1349:
1343:
1323:
1320:
1232:vitreous humor
1227:
1224:
1200:
1199:
1196:
1195:
1190:
1180:
1179:
1173:
1172:
1169:
1168:
1166:
1164:
1157:
1156:
1149:
1142:
1138:
1137:
1134:
1133:
1119:
1118:
1112:
1109:
1108:
1094:
1093:
1087:
1083:
1082:
1079:
1078:
1064:
1063:
1057:
1054:
1053:
1039:
1038:
1032:
1028:
1027:
1024:
1023:
1015:
1014:
1008:
1005:
1004:
996:
995:
989:
983:
982:
979:
978:
970:
969:
963:
960:
959:
951:
950:
944:
938:
937:
934:
933:
925:
924:
918:
915:
914:
906:
905:
899:
893:
892:
887:
882:
878:
877:
867:
866:
863:
862:
851:
850:
848:
847:
842:
837:
832:
827:
822:
817:
812:
807:
802:
797:
792:
787:
782:
777:
772:
767:
762:
757:
752:
747:
742:
737:
732:
727:
722:
717:
712:
707:
702:
697:
691:
689:
685:
684:
682:
681:
676:
671:
666:
661:
656:
651:
646:
641:
635:
633:
629:
628:
626:
625:
620:
615:
610:
605:
600:
595:
589:
587:
583:
582:
572:
571:
568:
567:
564:
563:
560:
559:
552:
546:
545:
542:
541:
533:
532:
529:
528:
526:
525:
521:
517:
513:
509:
505:
501:
497:
493:
489:
485:
482:
481:
470:
467:
466:
464:
463:
459:
455:
451:
447:
443:
439:
435:
431:
427:
423:
420:
419:
407:
406:
398:
387:
381:
380:
377:RNA expression
369:
368:
365:
364:
356:
352:
351:
343:
340:
335:
329:
328:
319:
312:
306:
302:
301:
296:
290:
289:
281:
280:
268:
267:
264:
263:
255:
251:
250:
242:
239:
234:
228:
227:
218:
211:
205:
201:
200:
193:
187:
186:
178:
177:
165:
164:
121:
117:
116:
108:
100:
99:
95:
94:
91:
90:
87:
86:
68:
67:
59:
58:
47:
41:
40:
32:
31:
23:
22:
9:
6:
4:
3:
2:
2951:
2940:
2937:
2936:
2934:
2927:
2916:
2913:
2910:
2909:
2906:
2903:
2901:
2898:
2896:
2893:
2891:
2887:
2884:
2883:
2881:
2877:
2865:
2862:
2860:
2857:
2856:
2855:
2852:
2850:
2847:
2845:
2842:
2840:
2837:
2835:
2832:
2830:
2827:
2825:
2822:
2820:
2817:
2813:
2810:
2809:
2808:
2805:
2803:
2800:
2799:
2797:
2793:
2785:
2782:
2780:
2777:
2775:
2772:
2771:
2770:
2767:
2763:
2760:
2758:
2755:
2753:
2750:
2748:
2745:
2744:
2743:
2740:
2736:
2733:
2731:
2728:
2726:
2723:
2721:
2718:
2716:
2713:
2712:
2711:
2708:
2707:
2705:
2703:
2699:
2689:
2688:Lysyl oxidase
2686:
2684:
2681:
2679:
2676:
2674:
2670:
2667:
2665:
2661:
2658:
2657:
2655:
2653:
2649:
2643:
2640:
2638:
2635:
2631:
2628:
2626:
2623:
2622:
2621:
2618:
2615:
2611:
2608:
2604:
2601:
2599:
2596:
2595:
2594:
2591:
2588:
2584:
2581:
2577:
2574:
2572:
2569:
2567:
2564:
2562:
2559:
2558:
2557:
2556:
2551:
2550:
2547:
2544:
2542:
2539:
2537:
2534:
2532:
2528:
2527:
2522:
2519:
2517:
2514:
2513:
2512:
2511:
2507:
2505:
2501:
2498:
2497:
2492:
2489:
2487:
2484:
2482:
2479:
2477:
2474:
2472:
2469:
2467:
2464:
2463:
2462:
2461:
2456:
2453:
2452:
2449:
2446:
2444:
2441:
2439:
2436:
2434:
2431:
2429:
2426:
2424:
2421:
2418:
2414:
2411:
2407:
2404:
2402:
2399:
2397:
2394:
2393:
2392:
2388:
2385:
2384:
2382:
2378:
2372:
2369:
2367:
2364:
2360:
2357:
2355:
2352:
2350:
2347:
2346:
2345:
2344:
2340:
2338:
2337:
2333:
2330:
2326:
2325:
2321:
2317:
2314:
2312:
2309:
2308:
2307:
2306:
2302:
2301:
2299:
2295:
2292:
2290:
2286:
2283:
2281:
2275:
2271:
2267:
2260:
2255:
2253:
2248:
2246:
2241:
2240:
2237:
2231:
2228:
2226:
2222:
2219:
2216:
2214:
2211:
2209:
2206:
2204:
2200:
2197:
2195:
2192:
2191:
2180:
2176:
2172:
2168:
2164:
2160:
2156:
2152:
2146:
2142:
2138:
2134:
2130:
2126:
2122:
2118:
2114:
2108:
2104:
2100:
2096:
2092:
2088:
2084:
2079:
2075:
2071:
2067:
2063:
2060:(2): 105–12.
2059:
2055:
2051:
2046:
2042:
2038:
2033:
2028:
2025:(8): 4761–8.
2024:
2020:
2016:
2011:
2007:
2003:
1999:
1995:
1992:(9): 663–71.
1991:
1987:
1981:
1977:
1973:
1969:
1965:
1961:
1957:
1953:
1949:
1943:
1939:
1935:
1930:
1925:
1921:
1917:
1913:
1909:
1905:
1900:
1896:
1892:
1887:
1882:
1878:
1874:
1870:
1866:
1862:
1857:
1853:
1849:
1844:
1839:
1835:
1831:
1828:(4): 263–71.
1827:
1823:
1819:
1814:
1810:
1806:
1802:
1798:
1794:
1790:
1786:
1782:
1776:
1772:
1768:
1764:
1760:
1757:(2): 95–100.
1756:
1752:
1747:
1743:
1739:
1735:
1731:
1726:
1721:
1718:(7): 1290–6.
1717:
1713:
1709:
1704:
1700:
1696:
1692:
1688:
1685:(2): 282–90.
1684:
1680:
1675:
1671:
1667:
1663:
1659:
1655:
1651:
1646:
1642:
1638:
1633:
1628:
1623:
1618:
1614:
1610:
1607:(9): 2555–9.
1606:
1602:
1598:
1593:
1589:
1585:
1580:
1575:
1571:
1567:
1563:
1558:
1557:
1543:
1539:
1534:
1529:
1525:
1521:
1517:
1513:
1509:
1505:
1501:
1494:
1486:
1480:
1472:
1468:
1462:
1454:
1450:
1444:
1437:
1433:
1428:
1426:
1424:
1416:
1412:
1407:
1405:
1403:
1398:
1386:
1383:
1380:
1377:
1374:
1371:
1368:
1365:
1362:
1359:
1356:
1353:
1350:
1347:
1344:
1341:
1337:
1333:
1329:
1326:
1325:
1319:
1317:
1313:
1309:
1305:
1304:chromosome 12
1300:
1297:
1293:
1289:
1285:
1281:
1277:
1273:
1269:
1265:
1264:chondrocalcin
1261:
1257:
1253:
1249:
1245:
1244:SED congenita
1241:
1237:
1233:
1223:
1221:
1217:
1214:
1210:
1206:
1194:
1189:
1185:
1181:
1178:
1174:
1167:
1165:
1162:
1158:
1154:
1150:
1147:
1143:
1139:
1132:
1130:
1126:
1120:
1116:
1113:
1107:
1105:
1101:
1095:
1091:
1088:
1084:
1077:
1075:
1071:
1065:
1061:
1058:
1052:
1050:
1046:
1040:
1036:
1033:
1031:RefSeq (mRNA)
1029:
1022:
1021:
1016:
1012:
1009:
1003:
1002:
997:
993:
990:
988:
984:
977:
976:
971:
967:
964:
958:
957:
952:
948:
945:
943:
939:
932:
931:
926:
922:
919:
913:
912:
907:
903:
900:
898:
894:
891:
888:
886:
883:
879:
876:
872:
868:
861:
857:
852:
846:
843:
841:
838:
836:
833:
831:
828:
826:
823:
821:
818:
816:
813:
811:
808:
806:
803:
801:
798:
796:
793:
791:
788:
786:
783:
781:
778:
776:
773:
771:
768:
766:
763:
761:
758:
756:
753:
751:
748:
746:
743:
741:
738:
736:
733:
731:
728:
726:
723:
721:
718:
716:
713:
711:
708:
706:
703:
701:
698:
696:
693:
692:
690:
687:
686:
680:
677:
675:
672:
670:
667:
665:
662:
660:
657:
655:
652:
650:
647:
645:
642:
640:
637:
636:
634:
631:
630:
624:
621:
619:
616:
614:
611:
609:
606:
604:
601:
599:
596:
594:
591:
590:
588:
585:
584:
581:
580:Gene ontology
577:
573:
561:
556:
553:
551:
547:
539:
534:
523:
519:
515:
511:
507:
503:
499:
495:
491:
487:
486:
483:
479:
474:
471:
461:
457:
453:
449:
445:
441:
437:
433:
429:
425:
424:
421:
417:
412:
409:
408:
405:
403:
399:
397:
396:
392:
391:
388:
386:
382:
378:
374:
370:
362:
357:
353:
349:
344:
334:
330:
323:
316:
310:
303:
295:
291:
287:
282:
278:
273:
269:
261:
256:
252:
248:
243:
233:
229:
222:
215:
209:
202:
198:
192:
188:
184:
179:
175:
170:
166:
162:
158:
154:
150:
146:
142:
138:
134:
130:
126:
118:
113:
106:
101:
96:
85:
83:
79:
75:
69:
64:
61:
60:
56:
53:
46:
42:
37:
33:
29:
24:
19:
16:
2925:
2812:Tropoelastin
2768:
2741:
2709:
2619:
2609:
2592:
2582:
2553:
2508:
2458:
2412:
2390:
2341:
2334:
2328:
2322:
2303:
2157:(2): 144–8.
2154:
2150:
2116:
2112:
2089:(1): 123–8.
2086:
2082:
2057:
2053:
2022:
2018:
1989:
1985:
1951:
1947:
1914:(5): 353–9.
1911:
1907:
1868:
1864:
1825:
1821:
1784:
1780:
1754:
1750:
1715:
1711:
1682:
1678:
1653:
1649:
1604:
1600:
1569:
1565:
1507:
1503:
1493:
1479:
1470:
1461:
1452:
1443:
1301:
1229:
1208:
1204:
1203:
1125:NP_001106987
1122:
1097:
1070:NM_001113515
1067:
1042:
1018:
999:
973:
954:
928:
909:
889:
884:
720:ossification
524:nasal septum
504:otic vesicle
400:
393:
120:External IDs
71:
15:
2890:Cytokeratin
2819:Vitronectin
2500:multiplexin
2119:(1): 61–7.
1954:(1): 87–9.
1296:procollagen
496:human fetus
359:97,902,576
346:97,873,483
258:48,004,554
245:47,972,967
98:Identifiers
2521:Endostatin
2510:type XVIII
1438:, May 2017
1417:, May 2017
1393:References
1332:amino acid
404:(ortholog)
141:HomoloGene
2900:Reticulin
2593:type VIII
1524:1607-8438
1308:base pair
1288:vertebrae
1284:inner ear
1276:cartilage
1129:NP_112440
1104:NP_149162
1100:NP_001835
1074:NM_031163
1049:NM_033150
1045:NM_001844
875:Orthologs
659:cytoplasm
149:GeneCards
2933:Category
2915:diseases
2911:See also
2854:Tectorin
2673:Leprecan
2583:type VII
2413:type XII
2336:type III
2289:Collagen
2230:GeneCard
2221:Archived
2179:22472125
2171:15316962
2141:24925027
2133:15643621
2074:10406661
2006:12925722
1976:24826973
1938:10353778
1895:11007540
1852:10745044
1809:21918163
1801:10735581
1771:10797431
1742:31291501
1734:12096843
1670:12686304
1542:33043724
1434:–
1413:–
1280:vitreous
1226:Function
1177:Wikidata
854:Sources:
649:collagen
454:testicle
237:12q13.11
2895:Gelatin
2886:Keratin
2834:Decorin
2807:Elastin
2702:Laminin
2678:ADAMTS2
2652:Enzymes
2642:COL28A1
2637:COL27A1
2630:COL11A2
2625:COL11A1
2620:type XI
2614:COL10A1
2555:type VI
2552:other:
2546:COL25A1
2541:COL23A1
2536:COL17A1
2531:COL13A1
2516:COL18A1
2504:COL15A1
2460:type IV
2448:COL22A1
2443:COL21A1
2438:COL20A1
2433:COL19A1
2428:COL16A1
2423:COL14A1
2417:COL12A1
2391:type IX
2371:COL26A1
2366:COL24A1
2324:type II
2266:Protein
2103:8723097
2041:9468540
1968:7550321
1929:1734362
1886:1288550
1843:1734564
1699:9675039
1641:3857598
1609:Bibcode
1588:7829510
1533:8404968
1436:Ensembl
1415:Ensembl
1340:protein
1336:glycine
1290:in the
1282:), the
1211:, is a
987:UniProt
942:Ensembl
881:Species
860:QuickGO
775:hearing
516:trachea
508:saccule
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379:pattern
105:Aliases
2839:FAM20C
2610:type X
2603:COL8A2
2598:COL8A1
2587:COL7A1
2576:COL6A5
2571:COL6A3
2566:COL6A2
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2795:Other
2784:LAMC3
2779:LAMC2
2774:LAMC1
2769:gamma
2762:LAMB4
2757:LAMB3
2752:LAMB2
2747:LAMB1
2735:LAMA5
2730:LAMA4
2725:LAMA3
2720:LAMA2
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2710:alpha
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2175:S2CID
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1972:S2CID
1805:S2CID
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395:Human
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1986:QJM
1956:doi
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