Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
DJ39G22.4,EDM2,MED,STL5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1298
MIM: 120260
HGNC: 2218
Ensembl: ENSG00000049089
Variants:
dbSNP: 1298
ClinVar: 1298
TCGA: ENSG00000049089
COSMIC: COL9A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000049089 | ENST00000372736 | B1AKJ3 |
| ENSG00000049089 | ENST00000372748 | Q14055 |
| ENSG00000049089 | ENST00000417105 | H0Y409 |
| ENSG00000049089 | ENST00000642679 | A0A2R8YFT7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32419506 | 2021 | Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration. | 4 |
| 33356723 | 2021 | Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. | 5 |
| 32419506 | 2021 | Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration. | 4 |
| 33356723 | 2021 | Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. | 5 |
| 31090205 | 2019 | Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. | 20 |
| 31090205 | 2019 | Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. | 20 |
| 29506578 | 2018 | Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis. | 4 |
| 30288688 | 2018 | Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population. | 6 |
| 29506578 | 2018 | Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis. | 4 |
| 30288688 | 2018 | Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population. | 6 |
| 28002589 | 2016 | Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population. | 3 |
| 28002589 | 2016 | Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population. | 3 |
| 24636772 | 2014 | The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease. | 21 |
| 24711017 | 2014 | [Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia]. | 1 |
| 24983932 | 2014 | Meta-analysis of the association between COL9A2 genetic polymorphisms and lumbar disc disease susceptibility. | 8 |
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)
