GALNT12
Chr 9polypeptide N-acetylgalactosaminyltransferase 12
Also known as: CRCS1, GalNAc-T12
The GALNT12 protein catalyzes the initial step of O-linked protein glycosylation by transferring N-acetylgalactosamine to serine or threonine residues, particularly important for mucin-type oligosaccharide biosynthesis in digestive organs. Mutations cause increased susceptibility to colorectal cancer with autosomal dominant inheritance. This gene is not highly constrained against loss-of-function variants, consistent with its role as a cancer susceptibility gene rather than causing severe developmental disorders.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GALNT12 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools