Collagen, type V, alpha 2

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.^[5][6]

COL5A2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1A9A
Identifiers
Aliases	COL5A2, EDSC, collagen type V alpha 2, collagen type V alpha 2 chain, EDSCL2
External IDs	OMIM: 120190; MGI: 88458; HomoloGene: 20119; GeneCards: COL5A2; OMA:COL5A2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q32.2 Start 189,031,898 bp[1] End 189,225,312 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C1.1 Start 45,413,481 bp[2] End 45,542,442 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber stromal cell of endometrium tibia visceral pleura parietal pleura synovial joint smooth muscle tissue synovial membrane gallbladder saphenous vein Top expressed in calvaria body of femur fossa dermis molar condyle internal carotid artery external carotid artery vas deferens ankle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding extracellular matrix structural constituent SMAD binding molecular function extracellular matrix structural constituent conferring tensile strength Cellular component extracellular region endoplasmic reticulum lumen collagen collagen type V trimer extracellular matrix extracellular space collagen-containing extracellular matrix Biological process eye morphogenesis skeletal system development collagen catabolic process ossification extracellular matrix organization cellular response to amino acid stimulus negative regulation of endodermal cell differentiation skin development collagen fibril organization notochord development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1290 12832 Ensembl ENSG00000204262 ENSMUSG00000026042 UniProt P05997 Q3U962 RefSeq (mRNA) NM_000393 NM_007737 NM_172972 RefSeq (protein) NP_000384 NP_031763 Location (UCSC) Chr 2: 189.03 – 189.23 Mb Chr 1: 45.41 – 45.54 Mb PubMed search [3] [4]
Wikidata
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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, classical type, formerly known as types I and II.^[6]