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COL12A1
Identifiers
Aliases	COL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP
External IDs	OMIM: 120320; MGI: 88448; HomoloGene: 3217; GeneCards: COL12A1; OMA:COL12A1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6q13-q14.1 Start 75,084,326 bp End 75,206,267 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 E1|9 43.82 cM Start 79,506,273 bp End 79,626,113 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia Achilles tendon cartilage tissue stromal cell of endometrium skin of arm pericardium synovial joint vulva tail of epididymis synovial membrane Top expressed in body of femur calvaria umbilical cord dermis stroma of bone marrow molar vas deferens human fetus efferent ductule external carotid artery More reference expression data BioGPS n/a
Gene ontology Molecular function extracellular matrix structural constituent conferring tensile strength Cellular component extracellular vesicle collagen type XII trimer collagen endoplasmic reticulum lumen extracellular exosome extracellular space extracellular matrix extracellular region collagen-containing extracellular matrix Biological process collagen catabolic process skeletal system development cell adhesion endodermal cell differentiation collagen fibril organization growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1303 12816 Ensembl ENSG00000111799 ENSMUSG00000032332 UniProt Q99715 Q60847 RefSeq (mRNA) NM_004370 NM_080645 NM_001290308 NM_007730 RefSeq (protein) NP_004361 NP_542376 NP_001277237 Location (UCSC) Chr 6: 75.08 – 75.21 Mb Chr 9: 79.51 – 79.63 Mb PubMed search
Wikidata
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Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.

Alternatively spliced transcript variants encoding different isoforms have been identified.

Clinical significance

Mutations in COL12A1 are known to cause the following conditions:

• Bethlem myopathy 2 (also known as Ehlers-Danlos syndrome myopathic type);
• Ullrich congenital muscular dystrophy 2.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000111799 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000032332 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, et al. (April 1997). "Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics. 41 (2): 236–242. doi:10.1006/geno.1997.4638. PMID 9143499.
6. ^ "Entrez Gene: COL12A1 collagen, type XII, alpha 1".
7. ^ "Collagen, Type XII, Alpha-1; COL12A1 Gene-Phenotype Relationships". Online Mendelian Inheritance in Man.

Further reading

• Oh SP, Taylor RW, Gerecke DR, Rochelle JM, Seldin MF, Olsen BR (October 1992). "The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6". Genomics. 14 (2): 225–231. doi:10.1016/S0888-7543(05)80210-1. PMID 1427837.
• Sugrue SP, Gordon MK, Seyer J, Dublet B, van der Rest M, Olsen BR (August 1989). "Immunoidentification of type XII collagen in embryonic tissues". The Journal of Cell Biology. 109 (2): 939–945. doi:10.1083/jcb.109.2.939. PMC 2115737. PMID 2668306.
• Gordon MK, Gerecke DR, Olsen BR (September 1987). "Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 84 (17): 6040–6044. Bibcode:1987PNAS...84.6040G. doi:10.1073/pnas.84.17.6040. PMC 299003. PMID 3476925.
• Wälchli C, Koch M, Chiquet M, Odermatt BF, Trueb B (February 1994). "Tissue-specific expression of the fibril-associated collagens XII and XIV". Journal of Cell Science. 107 ( Pt 2) (2): 669–681. doi:10.1242/jcs.107.2.669. PMID 8207089.
• Berthod F, Germain L, Guignard R, Lethias C, Garrone R, Damour O, et al. (May 1997). "Differential expression of collagens XII and XIV in human skin and in reconstructed skin". The Journal of Investigative Dermatology. 108 (5): 737–742. doi:10.1111/1523-1747.ep12292122. PMID 9129225.
• Wessel H, Anderson S, Fite D, Halvas E, Hempel J, SundarRaj N (October 1997). "Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices". Investigative Ophthalmology & Visual Science. 38 (11): 2408–2422. PMID 9344363.
• Chiquet M, Mumenthaler U, Wittwer M, Jin W, Koch M (October 1998). "The chick and human collagen alpha1(XII) gene promoter--activity of highly conserved regions around the first exon and in the first intron". European Journal of Biochemistry. 257 (2): 362–371. doi:10.1046/j.1432-1327.1998.2570362.x. PMID 9826181.
• Trächslin J, Koch M, Chiquet M (March 1999). "Rapid and reversible regulation of collagen XII expression by changes in tensile stress". Experimental Cell Research. 247 (2): 320–328. doi:10.1006/excr.1998.4363. PMID 10066359.
• Gregory KE, Keene DR, Tufa SF, Lunstrum GP, Morris NP (November 2001). "Developmental distribution of collagen type XII in cartilage: association with articular cartilage and the growth plate". Journal of Bone and Mineral Research. 16 (11): 2005–2016. doi:10.1359/jbmr.2001.16.11.2005. PMID 11697796. S2CID 26927835.
• Saika S, Miyamoto T, Tanaka T, Ishida I, Ohnishi Y, Ooshima A (December 2001). "Collagens XII and XIV (FACITs) in capsular opacification and in cultured lens epithelial cells". Current Eye Research. 23 (6): 463–468. doi:10.1076/ceyr.23.6.463.6971. PMID 12045897. S2CID 41275312.
• Jin X, Iwasa S, Okada K, Ooi A, Mitsui K, Mitsumata M (August 2003). "Shear stress-induced collagen XII expression is associated with atherogenesis". Biochemical and Biophysical Research Communications. 308 (1): 152–158. doi:10.1016/S0006-291X(03)01344-5. PMID 12890494.
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, et al. (September 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–1718. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Thierry L, Geiser AS, Hansen A, Tesche F, Herken R, Miosge N (November 2004). "Collagen types XII and XIV are present in basement membrane zones during human embryonic development". Journal of Molecular Histology. 35 (8–9): 803–810. doi:10.1007/s10735-004-1132-y. PMID 15609093. S2CID 30409158.
• Storlazzi CT, Wozniak A, Panagopoulos I, Sciot R, Mandahl N, Mertens F, Debiec-Rychter M (April 2006). "Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22)". International Journal of Cancer. 118 (8): 1972–1976. doi:10.1002/ijc.21586. PMID 16284948. S2CID 28327388.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

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