COL9A2


Summary: 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. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
collagen type IX alpha 2 chainMIM:120260Ensembl:ENSG00000049089HGNC:HGNC:2218PA267341p34.2

Gene Categories:

DRUGGABLE GENOME

GO terms in COL9A2


Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005576extracellular region
CCIBAGO:0005594collagen type IX trimer
CCIDAGO:0005594collagen type IX trimer
CCIBAGO:0005604basement membrane
CCIBAGO:0005615extracellular space
CCTASGO:0005788endoplasmic reticulum lumen
BPTASGO:0001501skeletal system development
BPIBAGO:0030198extracellular matrix organization
BPTASGO:0030198extracellular matrix organization
MFIBAGO:0005201extracellular matrix structural constituent
MFICGO:0030020extracellular matrix structural constituent conferring tensile strength

Gene expression in normal tissue: COL9A2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in COL9A2


DatabasePathway IDPathway Des.
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474290Collagen formation
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1650814Collagen biosynthesis and modifying enzymes
reactomeR-HSA-186797Signaling by PDGF
reactomeR-HSA-2022090Assembly of collagen fibrils and other multimeric structures
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-3000178ECM proteoglycans
reactomeR-HSA-375165NCAM signaling for neurite out-growth
reactomeR-HSA-419037NCAM1 interactions
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-8948216Collagen chain trimerization
reactomeR-HSA-9006934Signaling by Receptor Tyrosine Kinases
kegghsa04151PI3K-Akt signaling pathway - Homo sapiens (human)
kegghsa04510Focal adhesion - Homo sapiens (human)
kegghsa04512ECM-receptor interaction - Homo sapiens (human)
kegghsa04974Protein digestion and absorption - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
wikipathwaysWP4172PI3K-Akt Signaling Pathway

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in COL9A2

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