ART4
Chr 12ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
Also known as: ARTC4, CD297, DO, DO/ART4, DOK1
This protein contains a mono-ADP-ribosylation motif and is anchored to the erythrocyte membrane where it carries antigens of the Dombrock blood group system, though its enzymatic activity has not been demonstrated. Mutations cause Dombrock blood group variants with autosomal inheritance, some of which can lead to adverse transfusion reactions. The gene shows low constraint against loss-of-function variants, consistent with its primary role in blood group antigen presentation rather than essential cellular functions.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ART4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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