Identity
HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
EDS4A,EDSVASC,PMGEDSV
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: 1281
MIM: 120180
HGNC: 2201
Ensembl: ENSG00000168542
Variants:
dbSNP: 1281
ClinVar: 1281
TCGA: ENSG00000168542
COSMIC: COL3A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000168542 | ENST00000304636 | P02461 |
| ENSG00000168542 | ENST00000317840 | P02461 |
| ENSG00000168542 | ENST00000450867 | H7C435 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA179 | GP1BB | Gene | Pathway | associated | 20938371 | ||
| PA204 | ITGA2 | Gene | Pathway | associated | 20938371 | ||
| PA26212 | CD36 | Gene | Pathway | associated | 20938371 | ||
| PA28823 | GP5 | Gene | Pathway | associated | 20938371 | ||
| PA28824 | GP6 | Gene | Pathway | associated | 20938371 | ||
| PA28825 | GP9 | Gene | Pathway | associated | 20938371 | ||
| PA443997 | Ehlers-Danlos Syndrome | Disease | Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37547956 | 2024 | COL3A1-positive endothelial cells influence LUAD prognosis and regulate LUAD carcinogenesis by NCL-PI3K-AKT axis. | 1 |
| 38145599 | 2024 | COL3A1 is a potential diagnostic biomarker for synovial chondromatosis and affects the cell cycle and migration of chondrocytes. | 0 |
| 37547956 | 2024 | COL3A1-positive endothelial cells influence LUAD prognosis and regulate LUAD carcinogenesis by NCL-PI3K-AKT axis. | 1 |
| 38145599 | 2024 | COL3A1 is a potential diagnostic biomarker for synovial chondromatosis and affects the cell cycle and migration of chondrocytes. | 0 |
| 36866665 | 2023 | Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes. | 2 |
| 36930067 | 2023 | COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia. | 1 |
| 37461200 | 2023 | Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome. | 1 |
| 36866665 | 2023 | Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes. | 2 |
| 36930067 | 2023 | COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia. | 1 |
| 37461200 | 2023 | Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome. | 1 |
| 35587586 | 2022 | Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports. | 5 |
| 35598375 | 2022 | Overexpressed COL3A1 has prognostic value in human esophageal squamous cell carcinoma and promotes the aggressiveness of esophageal squamous cell carcinoma by activating the NF-κB pathway. | 6 |
| 35699227 | 2022 | Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures. | 4 |
| 35964930 | 2022 | Phenotype of COL3A1/COL5A2 deletion patients. | 4 |
| 36148899 | 2022 | COL3A1 Overexpression Associates with Poor Prognosis and Cisplatin Resistance in Lung Cancer. | 6 |
Citation
Dessen P
COL3A1 (collagen type III alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50204
