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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| collagen type IX alpha 2 chain | MIM:120260 | Ensembl:ENSG00000049089 | HGNC:HGNC:2218 | PA26734 | 1p34.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in COL9A2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005594 | collagen type IX trimer |
| CC | IDA | GO:0005594 | collagen type IX trimer |
| CC | IBA | GO:0005604 | basement membrane |
| CC | IBA | GO:0005615 | extracellular space |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| BP | TAS | GO:0001501 | skeletal system development |
| BP | IBA | GO:0030198 | extracellular matrix organization |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| MF | IBA | GO:0005201 | extracellular matrix structural constituent |
| MF | IC | GO:0030020 | extracellular 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
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1442490 | Collagen degradation |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| reactome | R-HSA-186797 | Signaling by PDGF |
| reactome | R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-419037 | NCAM1 interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-8948216 | Collagen chain trimerization |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04512 | ECM-receptor interaction - Homo sapiens (human) |
| kegg | hsa04974 | Protein digestion and absorption - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COL9A2
CLASSFICATION
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