COL9A2 (collagen type IX alpha 2 chain)

2003-05-01  

Identity

HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
DJ39G22.4,EDM2,MED,STL5
FUSION GENES

Other Information

Locus ID:

NCBI: 1298
MIM: 120260
HGNC: 2218
Ensembl: ENSG00000049089

Variants:

dbSNP: 1298
ClinVar: 1298
TCGA: ENSG00000049089
COSMIC: COL9A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049089ENST00000372736B1AKJ3
ENSG00000049089ENST00000372748Q14055
ENSG00000049089ENST00000417105H0Y409
ENSG00000049089ENST00000642679A0A2R8YFT7

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
ECM proteoglycansREACTOMER-HSA-3000178
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Integrin cell surface interactionsREACTOMER-HSA-216083
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
113083972001Identification of a novel common genetic risk factor for lumbar disk disease.48
163718962005The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.32
163718962005The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.32
161330742006Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.31
191805182009Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.29
216713922011A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.24
174710972007Occupational and genetic risk factors associated with intervertebral disc disease.22
184696982008Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.22
170243152006Association study of COL9A2 with lumbar disc disease in the Japanese population.20

Citation

Dessen P

COL9A2 (collagen type IX alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40129/col9a2-(collagen-type-ix-alpha-2-chain)