Identity
HGNC
LOCATION
13q34
LOCUSID
ALIAS
BSVD,BSVD1,COL4A1s,PADMAL,RATOR
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: 1282
MIM: 120130
HGNC: 2202
Ensembl: ENSG00000187498
Variants:
dbSNP: 1282
ClinVar: 1282
TCGA: ENSG00000187498
COSMIC: COL4A1
RNA/Proteins
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 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38058103 | 2024 | Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports. | 0 |
| 38331745 | 2024 | Collagen type IV alpha 1 chain (COL4A1) expression in the developing human lung. | 0 |
| 38630472 | 2024 | An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease. | 0 |
| 38058103 | 2024 | Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports. | 0 |
| 38331745 | 2024 | Collagen type IV alpha 1 chain (COL4A1) expression in the developing human lung. | 0 |
| 38630472 | 2024 | An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease. | 0 |
| 36349777 | 2023 | Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy. | 0 |
| 37540089 | 2023 | Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study. | 1 |
| 36349777 | 2023 | Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy. | 0 |
| 37540089 | 2023 | Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study. | 1 |
| 34281442 | 2022 | Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology. | 2 |
| 34415564 | 2022 | A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy. | 5 |
| 35297303 | 2022 | Collagen type IV alpha 1 (COL4A1) silence hampers the invasion, migration and epithelial-mesenchymal transition (EMT) of gastric cancer cells through blocking Hedgehog signaling pathway. | 11 |
| 35382634 | 2022 | Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype. | 1 |
| 35532293 | 2022 | The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma. | 4 |
Citation
Dessen P
COL4A1 (collagen type IV alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43831/col4a1-(collagen-type-iv-alpha-1-chain)
