ANKRD42
Chr 11ankyrin repeat domain 42
Also known as: PPP1R79, SARP
The protein is predicted to bind NF-kappaB and inhibit cyclin-dependent protein kinases, acting to positively regulate NF-kappaB transcription and inflammatory cytokine production in the nucleus. This gene is extremely intolerant to loss-of-function variation (pLI near 1.0), indicating mutations likely cause severe developmental disorders, though specific associated phenotypes have not yet been established in clinical databases. The high constraint suggests mutations would be expected to cause early-onset neurodevelopmental abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
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
ANKRD42 · 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 →No open access results found
External Resources
Links to major genomics databases and tools