Identity
HGNC
LOCATION
13q34
LOCUSID
ALIAS
BSVD2,ICH,POREN2
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: 1284
MIM: 120090
HGNC: 2203
Ensembl: ENSG00000134871
Variants:
dbSNP: 1284
ClinVar: 1284
TCGA: ENSG00000134871
COSMIC: COL4A2
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 |
|---|---|---|---|
| 36125535 | 2023 | Secretome analysis reveals reduced expression of COL4A2 in hypoxic cancer-associated fibroblasts with a tumor-promoting function in gastric cancer. | 3 |
| 37642429 | 2023 | Venous Tortuosity in COL4A2-Associated Gould Syndrome. | 0 |
| 36125535 | 2023 | Secretome analysis reveals reduced expression of COL4A2 in hypoxic cancer-associated fibroblasts with a tumor-promoting function in gastric cancer. | 3 |
| 37642429 | 2023 | Venous Tortuosity in COL4A2-Associated Gould Syndrome. | 0 |
| 34281442 | 2022 | Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology. | 2 |
| 35532293 | 2022 | The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma. | 4 |
| 36403858 | 2022 | Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV). | 1 |
| 34281442 | 2022 | Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology. | 2 |
| 35532293 | 2022 | The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma. | 4 |
| 36403858 | 2022 | Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV). | 1 |
| 32515830 | 2021 | Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions. | 11 |
| 32732225 | 2021 | Prenatal clinical manifestations in individuals with COL4A1/2 variants. | 11 |
| 33247988 | 2021 | Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication. | 4 |
| 33268848 | 2021 | Whole-exome sequencing of Finnish patients with vascular cognitive impairment. | 6 |
| 33577044 | 2021 | Novel COL4A2 mutation causing familial malformations of cortical development. | 3 |
Citation
Dessen P
COL4A2 (collagen type IV alpha 2 chain)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/40125/col4a2-(collagen-type-iv-alpha-2-chain)
