ATF7IP2
Chr 16activating transcription factor 7 interacting protein 2
Also known as: MCAF2
The protein functions as a transcriptional recruiter that couples transcription factors to general transcription machinery and modulates chromatin formation, acting as either an activator or repressor depending on context. Mutations in this gene cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
183 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 | 19 | 0 | 19 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 2 | 98 | 28 | 0 | 128 |
Likely Benign | 0 | 13 | 4 | 1 | 18 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 2 | 111 | 51 | 1 | 166 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATF7IP2 · 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