Collagen, type VIII, alpha 2

Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene.^[5][6] Mutations of the gene are linked to posterior polymorphous dystrophy type 2.

COL8A2
Identifiers
Aliases	COL8A2, FECD, FECD1, PPCD, PPCD2, collagen type VIII alpha 2, collagen type VIII alpha 2 chain
External IDs	OMIM: 120252; MGI: 88464; HomoloGene: 55879; GeneCards: COL8A2; OMA:COL8A2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.3 Start 36,095,239 bp[1] End 36,125,222 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 60.29 cM Start 126,180,586 bp[2] End 126,208,123 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber tendon of biceps brachii ascending aorta retinal pigment epithelium Descending thoracic aorta right coronary artery popliteal artery tibial arteries Epithelium of choroid plexus cartilage tissue Top expressed in Epithelium of choroid plexus calvaria retinal pigment epithelium cornea condyle lumbar spinal ganglion efferent ductule fossa vas deferens iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength protein binding Cellular component extracellular matrix extracellular region basement membrane collagen endoplasmic reticulum lumen extracellular space collagen-containing extracellular matrix Biological process collagen catabolic process extracellular matrix organization epithelial cell proliferation cell adhesion camera-type eye morphogenesis angiogenesis cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1296 329941 Ensembl ENSG00000171812 ENSMUSG00000056174 UniProt P25067 Q4VAQ0 P25318 RefSeq (mRNA) NM_001294347 NM_005202 NM_199473 RefSeq (protein) NP_001281276 NP_005193 NP_955767 Location (UCSC) Chr 1: 36.1 – 36.13 Mb Chr 4: 126.18 – 126.21 Mb PubMed search [3] [4]
Wikidata
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