STAT4
Chr 2ADsignal transducer and activator of transcription 4
Also known as: DPMC, SLEB11
STAT4 encodes a transcription factor that mediates responses to IL-12 and other cytokines, playing a critical role in T-helper cell differentiation and interferon-gamma production in immune responses. Mutations cause disabling pansclerotic morphea of childhood, a severe skin and connective tissue disorder, and increase susceptibility to systemic lupus erythematosus. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
569 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 29 | 0 | 30 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 8 | 201 | 21 | 4 | 234 |
Likely Benign | 0 | 7 | 135 | 115 | 257 |
Benign | 0 | 1 | 17 | 4 | 22 |
Conflicting | — | 6 | |||
| Total | 8 | 211 | 203 | 123 | 551 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STAT4 · 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