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: 1297
MIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280
Variants:
dbSNP: 1297
ClinVar: 1297
TCGA: ENSG00000112280
COSMIC: COL9A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112280 | ENST00000320755 | P20849 |
| ENSG00000112280 | ENST00000357250 | P20849 |
| ENSG00000112280 | ENST00000370496 | P20849 |
| ENSG00000112280 | ENST00000644493 | A0A2R8YG47 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33372835 | 2021 | Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus. | 2 |
| 33372835 | 2021 | Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus. | 2 |
| 31732751 | 2020 | Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis. | 6 |
| 31732751 | 2020 | Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis. | 6 |
| 30657779 | 2019 | Variants in FAT1 and COL9A1 genes in male population with or without substance use to assess the risk factors for oral malignancy. | 3 |
| 31090205 | 2019 | Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. | 20 |
| 31315069 | 2019 | Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. | 1 |
| 30657779 | 2019 | Variants in FAT1 and COL9A1 genes in male population with or without substance use to assess the risk factors for oral malignancy. | 3 |
| 31090205 | 2019 | Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. | 20 |
| 31315069 | 2019 | Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. | 1 |
| 30577800 | 2018 | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. | 7 |
| 30577800 | 2018 | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. | 7 |
| 27819742 | 2016 | Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. | 5 |
| 27819742 | 2016 | Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. | 5 |
| 25774918 | 2015 | COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population. | 9 |
Citation
Dessen P
COL9A1 (collagen type IX alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2021-06-01
Online version: http://atlasgeneticsoncology.org/gene/58350/col9a1-(collagen-type-ix-alpha-1-chain)
