GADD45G
Chr 9growth arrest and DNA damage inducible gamma
Also known as: CR6, DDIT2, GADD45gamma, GRP17
The protein mediates activation of stress-responsive MTK1/MEKK4 MAPKKK and is involved in the regulation of growth and apoptosis in response to environmental stresses. Mutations in this gene cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and brain atrophy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.719), and the associated disorder involves the central nervous system with early-onset developmental abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
50 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 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 8 | 3 | 0 | 11 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 0 | 9 | 34 | 0 | 43 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GADD45G · 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