ARMH4
Chr 14armadillo like helical domain containing 4
Also known as: C14orf37, UT2, c14_5376
The protein modulates immune responses by down-regulating STAT3 signaling through direct interaction with IL6ST and may negatively regulate AKT signaling by modulating mTORC2 complex activity. Mutations in this gene cause neurodevelopmental disorders with immune dysfunction, typically following an autosomal recessive inheritance pattern. The gene shows tolerance to loss-of-function variants, suggesting that complete protein loss may be required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARMH4 · 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