Collagen, type VI, alpha 2

COL6A2
Identifiers
Aliases	COL6A2, PP3610, BTHLM1, UCMD1, collagen type VI alpha 2, collagen type VI alpha 2 chain
External IDs	OMIM: 120240; MGI: 88460; GeneCards: COL6A2
Gene location (Human)
Chr.	Chromosome 21 (human)
End	46,132,848 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	76,459,464 bp
RNA expression pattern
	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
	; ;
	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
Databases	NCBI: entry; OMA: entry
	1292
	12834
	ENSG00000142173
	ENSMUSG00000020241
	P12110
	Q02788
	NM_001849; NM_058174; NM_058175
	NM_146007; NM_001347207
	NP_001840; NP_478054; NP_478055
	NP_001334136; NP_666119
	Wikidata
View/Edit Human	View/Edit Mouse

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. Pathogenic variants in this gene are associated with collagen VI-related dystrophies, a spectrum of disorders that includes Bethlem muscular dystrophy, intermediate collagen VI-related dystrophy, and Ullrich congenital muscular dystrophy. Certain biallelic COL6A2 variants have also been associated with a phenotype referred to as myosclerosis. Three transcript variants have been identified for this gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000142173 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020241 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: COL6A2 collagen, type VI, alpha 2".
↑ Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG (2021). "Collagen VI-Related Dystrophies". GeneReviews^®. University of Washington, Seattle. PMID 20301676.
↑ Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, et al. (October 2008). "Autosomal recessive myosclerosis myopathy is a collagen VI disorder". Neurology. 71 (16): 1245–1253. doi:10.1212/01.wnl.0000327611.01687.5e. PMID 18852439. S2CID 21554344.

Bertini E, Pepe G (2002). "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy". European Journal of Paediatric Neurology. 6 (4): 193–198. doi:10.1053/ejpn.2002.0593. PMID 12374585.
Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders". Journal of Medical Genetics. 42 (9): 673–685. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
Bidanset DJ, Guidry C, Rosenberg LC, Choi HU, Timpl R, Hook M (March 1992). "Binding of the proteoglycan decorin to collagen type VI". The Journal of Biological Chemistry. 267 (8): 5250–5256. doi:10.1016/S0021-9258(18)42759-7. PMID 1544908.
Saitta B, Timpl R, Chu ML (March 1992). "Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon". The Journal of Biological Chemistry. 267 (9): 6188–6196. doi:10.1016/S0021-9258(18)42680-4. PMID 1556127.
Dawson SJ, White LA (May 1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". The Journal of Infection. 24 (3): 317–320. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
Saitta B, Stokes DG, Vissing H, Timpl R, Chu ML (April 1990). "Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini". The Journal of Biological Chemistry. 265 (11): 6473–6480. doi:10.1016/S0021-9258(19)39351-2. PMID 1690728.
Saitta B, Wang YM, Renkart L, Zhang RZ, Pan TC, Timpl R, et al. (September 1991). "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): 145–153. doi:10.1016/0888-7543(91)90111-Q. PMID 1765372.
Chu ML, Pan TC, Conway D, Kuo HJ, Glanville RW, Timpl R, et al. (July 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". The EMBO Journal. 8 (7): 1939–1946. doi:10.1002/j.1460-2075.1989.tb03598.x. PMC 401054. PMID 2551668.
Chu ML, Conway D, Pan TC, Baldwin C, Mann K, Deutzmann R, et al. (December 1988). "Amino acid sequence of the triple-helical domain of human collagen type VI". The Journal of Biological Chemistry. 263 (35): 18601–18606. doi:10.1016/S0021-9258(18)37327-7. PMID 3198591.
Weil D, Mattei MG, Passage E, N'Guyen VC, Pribula-Conway D, Mann K, et al. (March 1988). "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen". American Journal of Human Genetics. 42 (3): 435–445. PMC 1715162. PMID 3348212.
Chu ML, Mann K, Deutzmann R, Pribula-Conway D, Hsu-Chen CC, Bernard MP, et al. (October 1987). "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones". European Journal of Biochemistry. 168 (2): 309–317. doi:10.1111/j.1432-1033.1987.tb13422.x. PMID 3665927.
Jander R, Rauterberg J, Glanville RW (June 1983). "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)". European Journal of Biochemistry. 133 (1): 39–46. doi:10.1111/j.1432-1033.1983.tb07427.x. PMID 6852033.
Tillet E, Wiedemann H, Golbik R, Pan TC, Zhang RZ, Mann K, et al. (April 1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI". European Journal of Biochemistry. 221 (1): 177–185. doi:10.1111/j.1432-1033.1994.tb18727.x. PMID 8168508.
Nishiyama A, Stallcup WB (November 1993). "Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface". Molecular Biology of the Cell. 4 (11): 1097–1108. doi:10.1091/mbc.4.11.1097. PMC 275746. PMID 8305732.
Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, et al. (September 1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nature Genetics. 14 (1): 113–115. doi:10.1038/ng0996-113. PMID 8782832. S2CID 26173341.
Tillet E, Ruggiero F, Nishiyama A, Stallcup WB (April 1997). "The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein". The Journal of Biological Chemistry. 272 (16): 10769–10776. doi:10.1074/jbc.272.16.10769. PMID 9099729.
Kuo HJ, Maslen CL, Keene DR, Glanville RW (October 1997). "Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen". The Journal of Biological Chemistry. 272 (42): 26522–26529. doi:10.1074/jbc.272.42.26522. PMID 9334230.
Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, et al. (June 2001). "Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI". Proceedings of the National Academy of Sciences of the United States of America. 98 (13): 7516–7521. Bibcode:2001PNAS...98.7516C. doi:10.1073/pnas.121027598. PMC 34700. PMID 11381124.
Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, et al. (February 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

This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000142173 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: COL6A2 collagen, type VI, alpha 2".

[6] Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG (2021). "Collagen VI-Related Dystrophies". GeneReviews^®. University of Washington, Seattle. PMID 20301676.

[7] Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, et al. (October 2008). "Autosomal recessive myosclerosis myopathy is a collagen VI disorder". Neurology. 71 (16): 1245–1253. doi:10.1212/01.wnl.0000327611.01687.5e. PMID 18852439. S2CID 21554344.

Collagen, type VI, alpha 2

Function

References

Further reading

External links