COL6A2
Chr 21ARADcollagen type VI alpha 2 chain
Also known as: BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B
The protein is one of three alpha chains that form type VI collagen, a beaded filament collagen that organizes extracellular matrix components in connective tissues through binding interactions via von Willebrand Factor type A domains. Mutations cause Bethlem myopathy and Ullrich congenital muscular dystrophy through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves dominant-negative effects that disrupt normal collagen VI assembly and function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
COL6A2 · 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
Carboplatin and Nab-Paclitaxel With or Without Vorinostat in Treating Women With Newly Diagnosed Operable Breast Cancer
ACTIVE NOT RECRUITINGThe Collagen Factors of Rapid Progression of Keratoconus in Children.
RECRUITINGExternal Resources
Links to major genomics databases and tools