COL9A3 (collagen type IX alpha 3 chain)

2014-11-01  

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
DJ885L7.4.1,EDM3,IDD,MED
FUSION GENES

Other Information

Locus ID:

NCBI: 1299
MIM: 120270
HGNC: 2219
Ensembl: ENSG00000092758

Variants:

dbSNP: 1299
ClinVar: 1299
TCGA: ENSG00000092758
COSMIC: COL9A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092758ENST00000452372Q4VXW1
ENSG00000092758ENST00000649368Q14050

Expression (GTEx)

0
50
100
150

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
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
124613952002COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction.28
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
203585952010Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.16
151676672004The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients.15
246367722014The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.14
126011882003Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen.13
165861332007The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine.12

Citation

Dessen P

COL9A3 (collagen type IX alpha 3 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62004/col9a3