Gene table of COL9A2 : collagen type IX alpha 2 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL9A2OMIM linkNumber of associated genesgenes
PS108300STICKLER SYNDROMEOMIM link to OMIM 5COL11A2, COL11A1, COL2A1, COL9A2, COL9A1
PS132400EPIPHYSEAL DYSPLASIA, MULTIPLEClinVar, OMIM link to OMIM 6COMP, COL9A3, MATN3, COL9A2, SLC26A2, COL9A1
603932INTERVERTEBRAL DISC DISEASEOMIM, HUMSAVAR link to OMIM 6ASPN, COL9A3, COL11A1, CILP, COL9A2, THBS2

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Annotation of the gene COL9A2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Integrin cell surface interactionsR-HSA-2160836.57
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
ECM proteoglycansR-HSA-30001786.75
NCAM signaling for neurite out-growthR-HSA-3751654.9
NCAM1 interactionsR-HSA-4190377.59
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Signal TransductionR-HSA-1625821.78
Signaling by PDGFR-HSA-1867974.53
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Axon guidanceR-HSA-4224753.93
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
extracellular matrix structural constituentGO:00052015.37
structural molecule activityGO:00051983.1
extracellular matrix structural constituent conferring tensile strengthGO:00300207.95