Identity
HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
DJ885L7.4.1,EDM3,IDD,MED
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: 1299
MIM: 120270
HGNC: 2219
Ensembl: ENSG00000092758
Variants:
dbSNP: 1299
ClinVar: 1299
TCGA: ENSG00000092758
COSMIC: COL9A3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000092758 | ENST00000452372 | Q4VXW1 |
| ENSG00000092758 | ENST00000649368 | Q14050 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38166944 | 2024 | A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation. | 0 |
| 38166944 | 2024 | A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation. | 0 |
| 35241111 | 2022 | Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. | 2 |
| 35241111 | 2022 | Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. | 2 |
| 33078831 | 2021 | Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. | 7 |
| 33633367 | 2021 | Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. | 6 |
| 33078831 | 2021 | Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. | 7 |
| 33633367 | 2021 | Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. | 6 |
| 32048053 | 2020 | Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population. | 3 |
| 32048053 | 2020 | Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population. | 3 |
| 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 |
| 30342505 | 2018 | Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis. | 6 |
| 30450842 | 2018 | Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. | 14 |
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-(collagen-type-ix-alpha-3-chain)
