COL2A1 (collagen type II alpha 1 chain)

2007-02-01  

Identity

HGNC
LOCATION
12q13.11
LOCUSID
ALIAS
ANFH,AOM,COL11A3,SEDC,STL1
FUSION GENES

Other Information

Locus ID:

NCBI: 1280
MIM: 120140
HGNC: 2200
Ensembl: ENSG00000139219

Variants:

dbSNP: 1280
ClinVar: 1280
TCGA: ENSG00000139219
COSMIC: COL2A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139219ENST00000337299P02458
ENSG00000139219ENST00000380518P02458

Expression (GTEx)

0
5
10
15
20

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
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
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170092602006Premature induction of hypertrophy during in vitro chondrogenesis of human mesenchymal stem cells correlates with calcification and vascular invasion after ectopic transplantation in SCID mice.220
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
127326312003Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9.76
205298462010Type II collagen expression is regulated by tissue-specific miR-675 in human articular chondrocytes.56
210448842011Collagen binding specificity of the discoidin domain receptors: binding sites on collagens II and III and molecular determinants for collagen IV recognition by DDR1.56
171952162007Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee.53
227507472012Intra-articular injection of human mesenchymal stem cells (MSCs) promote rat meniscal regeneration by being activated to express Indian hedgehog that enhances expression of type II collagen.51
197900482009Hypoxia-inducible factor 1alpha inhibits the fibroblast-like markers type I and type III collagen during hypoxia-induced chondrocyte redifferentiation: hypoxia not only induces type II collagen and aggrecan, but it also inhibits type I and type III collagen in the hypoxia-inducible factor 1alpha-dependent redifferentiation of chondrocytes.50
129358202003SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes.48
180657602008Interleukin-6 (IL-6) and/or soluble IL-6 receptor down-regulation of human type II collagen gene expression in articular chondrocytes requires a decrease of Sp1.Sp3 ratio and of the binding activity of both factors to the COL2A1 promoter.43

Citation

Dessen P

COL2A1 (collagen type II alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46165/col2a1