COL4A2
Chr 13ADARcollagen type IV alpha 2 chain
Also known as: BSVD2, BSVD2A, BSVD2B, ICH, POREN2
The protein is a subunit of type IV collagen, the major structural component of basement membranes including those in blood vessels and glomeruli. Mutations cause brain small vessel disease with intracerebral hemorrhage susceptibility, inherited in either autosomal dominant or autosomal recessive patterns depending on the specific variant. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL4A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
RECRUITINGAn Exploratory Study on Gene Methylation Detection of Colorectal Cancer
RECRUITINGExternal Resources
Links to major genomics databases and tools