Collagen, type IX, alpha 2

Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.^[5][6][7][8]

AliasesCOL9A2, DJ39G22.4, EDM2, MED, STL5, collagen type IX alpha 2, collagen type IX alpha 2 chain

External IDsOMIM: 120260; MGI: 88466; HomoloGene: 37535; GeneCards: COL9A2; OMA:COL9A2 - orthologs

Chr.Chromosome 1 (human)^[1]

End40,317,813 bp^[1]

Quick facts COL9A2, Identifiers ...

COL9A2
Identifiers
Aliases	COL9A2, DJ39G22.4, EDM2, MED, STL5, collagen type IX alpha 2, collagen type IX alpha 2 chain
External IDs	OMIM: 120260; MGI: 88466; HomoloGene: 37535; GeneCards: COL9A2; OMA:COL9A2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 40,300,489 bp[1] End 40,317,813 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 56.78 cM Start 120,896,582 bp[2] End 120,912,519 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment tibia anterior pituitary cartilage tissue ganglionic eminence amygdala putamen caudate nucleus hypothalamus nucleus accumbens Top expressed in vestibular sensory epithelium saccule utricle otic vesicle molar human vertebral column Ileal epithelium lens axial skeleton cochlea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent conferring tensile strength extracellular matrix structural constituent Cellular component extracellular region endoplasmic reticulum lumen collagen collagen type IX trimer basement membrane extracellular space extracellular matrix collagen-containing extracellular matrix Biological process skeletal system development extracellular matrix organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1298 12840 Ensembl ENSG00000049089 ENSMUSG00000028626 UniProt Q14055 Q07643 RefSeq (mRNA) NM_001852 NM_007741 RefSeq (protein) NP_001843 NP_031767 Location (UCSC) Chr 1: 40.3 – 40.32 Mb Chr 4: 120.9 – 120.91 Mb PubMed search [3] [4]
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This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia.^[8]