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: 169044
MIM: 610026
HGNC: 22989
Ensembl: ENSG00000169436
Variants:
dbSNP: 169044
ClinVar: 169044
TCGA: ENSG00000169436
COSMIC: COL22A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169436 | ENST00000303045 | Q8NFW1 |
| ENSG00000169436 | ENST00000435777 | Q8NFW1 |
| ENSG00000169436 | ENST00000522546 | H0YAX7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PD | ||
| PA448068 | salbutamol | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36612834 | 2022 | Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes? | 0 |
| 36612834 | 2022 | Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes? | 0 |
| 33166209 | 2020 | eQTL variants in COL22A1 are associated with muscle injury in athletes. | 4 |
| 33166209 | 2020 | eQTL variants in COL22A1 are associated with muscle injury in athletes. | 4 |
| 30678304 | 2019 | A Human Skin Model Recapitulates Systemic Sclerosis Dermal Fibrosis and Identifies COL22A1 as a TGFβ Early Response Gene that Mediates Fibroblast to Myofibroblast Transition. | 14 |
| 30678304 | 2019 | A Human Skin Model Recapitulates Systemic Sclerosis Dermal Fibrosis and Identifies COL22A1 as a TGFβ Early Response Gene that Mediates Fibroblast to Myofibroblast Transition. | 14 |
| 30541770 | 2018 | Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms. | 15 |
| 30541770 | 2018 | Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms. | 15 |
| 24428702 | 2014 | Collagen XXII binds to collagen-binding integrins via the novel motifs GLQGER and GFKGER. | 15 |
| 24428702 | 2014 | Collagen XXII binds to collagen-binding integrins via the novel motifs GLQGER and GFKGER. | 15 |
| 20222955 | 2010 | A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. | 26 |
| 20222955 | 2010 | A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. | 26 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20222955 | 2010 | A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. | 26 |
| 20222955 | 2010 | A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. | 26 |
Citation
Dessen P
COL22A1 (collagen type XXII alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61988/col22a1-(collagen-type-xxii-alpha-1-chain)
