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COL6A2
Identifiers
Aliases	COL6A2, PP3610, BTHLM1, UCMD1, collagen type VI alpha 2, collagen type VI alpha 2 chain
External IDs	OMIM: 120240; MGI: 88460; HomoloGene: 1392; GeneCards: COL6A2; OMA:COL6A2 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) Band 21q22.3 Start 46,098,112 bp End 46,132,848 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 C1|10 39.32 cM Start 76,431,596 bp End 76,459,464 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium right coronary artery Descending thoracic aorta ascending aorta body of uterus muscle layer of sigmoid colon left uterine tube gastric mucosa saphenous vein canal of the cervix Top expressed in calvaria internal carotid artery external carotid artery efferent ductule ankle Gonadal ridge vas deferens uterus cervix umbilical cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding extracellular matrix structural constituent conferring tensile strength Cellular component extracellular vesicle sarcolemma collagen endoplasmic reticulum lumen extracellular exosome membrane extracellular matrix extracellular region extracellular space protein-containing complex collagen-containing extracellular matrix Biological process collagen catabolic process protein heterotrimerization cell adhesion extracellular matrix organization response to glucose growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1292 12834 Ensembl ENSG00000142173 ENSMUSG00000020241 UniProt P12110 Q02788 RefSeq (mRNA) NM_001849 NM_058174 NM_058175 NM_146007 NM_001347207 RefSeq (protein) NP_001840 NP_478054 NP_478055 NP_001334136 NP_666119 Location (UCSC) Chr 21: 46.1 – 46.13 Mb Chr 10: 76.43 – 76.46 Mb PubMed search
Wikidata
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Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.

Function

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, and autosomal recessive myosclerosis myopathy. Three transcript variants have been identified for this gene.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000142173 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000020241 – 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. ^ "Entrez Gene: COL6A2 collagen, type VI, alpha 2".
6. "COLLAGEN, TYPE VI, ALPHA-2; COL6A2". www.omim.org. Retrieved 2023-10-13.
7. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P (2008-10-14). "Autosomal recessive myosclerosis myopathy is a collagen VI disorder". Neurology. 71 (16): 1245–1253. doi:10.1212/01.wnl.0000327611.01687.5e. ISSN 1526-632X. PMID 18852439. S2CID 21554344.

Further reading

• Bertini E, Pepe G (2002). "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy". Eur. J. Paediatr. Neurol. 6 (4): 193–8. doi:10.1053/ejpn.2002.0593. PMID 12374585.
• Lampe AK, Bushby KM (2006). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
• Bidanset DJ, Guidry C, Rosenberg LC, et al. (1992). "Binding of the proteoglycan decorin to collagen type VI". J. Biol. Chem. 267 (8): 5250–6. doi:10.1016/S0021-9258(18)42759-7. PMID 1544908.
• Saitta B, Timpl R, Chu ML (1992). "Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon". J. Biol. Chem. 267 (9): 6188–96. doi:10.1016/S0021-9258(18)42680-4. PMID 1556127.
• Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
• Saitta B, Stokes DG, Vissing H, et al. (1990). "Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini". J. Biol. Chem. 265 (11): 6473–80. doi:10.1016/S0021-9258(19)39351-2. PMID 1690728.
• Saitta B, Wang YM, Renkart L, et al. (1992). "The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar". Genomics. 11 (1): 145–53. doi:10.1016/0888-7543(91)90111-Q. PMID 1765372.
• Chu ML, Pan TC, Conway D, et al. (1989). "Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus". EMBO J. 8 (7): 1939–46. doi:10.1002/j.1460-2075.1989.tb03598.x. PMC 401054. PMID 2551668.
• Chu ML, Conway D, Pan TC, et al. (1989). "Amino acid sequence of the triple-helical domain of human collagen type VI". J. Biol. Chem. 263 (35): 18601–6. doi:10.1016/S0021-9258(18)37327-7. PMID 3198591.
• Weil D, Mattei MG, Passage E, et al. (1988). "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen". Am. J. Hum. Genet. 42 (3): 435–45. PMC 1715162. PMID 3348212.
• Chu ML, Mann K, Deutzmann R, et al. (1987). "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones". Eur. J. Biochem. 168 (2): 309–17. doi:10.1111/j.1432-1033.1987.tb13422.x. PMID 3665927.
• Jander R, Rauterberg J, Glanville RW (1983). "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)". Eur. J. Biochem. 133 (1): 39–46. doi:10.1111/j.1432-1033.1983.tb07427.x. PMID 6852033.
• Tillet E, Wiedemann H, Golbik R, et al. (1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI". Eur. J. Biochem. 221 (1): 177–85. doi:10.1111/j.1432-1033.1994.tb18727.x. PMID 8168508.
• Nishiyama A, Stallcup WB (1994). "Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface". Mol. Biol. Cell. 4 (11): 1097–108. doi:10.1091/mbc.4.11.1097. PMC 275746. PMID 8305732.
• Jöbsis GJ, Keizers H, Vreijling JP, et al. (1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nat. Genet. 14 (1): 113–5. doi:10.1038/ng0996-113. PMID 8782832. S2CID 26173341.
• Tillet E, Ruggiero F, Nishiyama A, Stallcup WB (1997). "The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein". J. Biol. Chem. 272 (16): 10769–76. doi:10.1074/jbc.272.16.10769. PMID 9099729.
• Kuo HJ, Maslen CL, Keene DR, Glanville RW (1997). "Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen". J. Biol. Chem. 272 (42): 26522–9. doi:10.1074/jbc.272.42.26522. PMID 9334230.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
• Camacho Vanegas O, Bertini E, Zhang RZ, et al. (2001). "Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7516–21. Bibcode:2001PNAS...98.7516C. doi:10.1073/pnas.121027598. PMC 34700. PMID 11381124.
• Scacheri PC, Gillanders EM, Subramony SH, et al. (2002). "Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype". Neurology. 58 (4): 593–602. doi:10.1212/wnl.58.4.593. PMID 11865138. S2CID 24273894.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

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