Gene: COL5A2

Alternate names for this Gene: EDSC|EDSCL2

Gene Summary: This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.

Gene is located in Chromosome: 2

Location in Chromosome : 2q32.2

Description of this Gene: collagen type V alpha 2 chain

Type of Gene: protein-coding

rs114613161 in COL5A2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1553513657 in COL5A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

rs1559085564 in COL5A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 19344236 2009 Collagen structure and stability.

PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

rs11186 in COL5A2 gene and Parkinson Disease PMID 26227905 2016 A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.