CIZ1
Chr 9CDKN1A interacting zinc finger protein 1
Also known as: LSFR1, NP94, ZNF356
The protein encoded by CIZ1 is a zinc finger DNA binding protein that regulates the subcellular localization of CIP1/WAF1, a cell cycle regulator. Mutations cause autosomal dominant intellectual disability with variable features including developmental delay and behavioral abnormalities. This gene shows significant constraint against loss-of-function variants, suggesting that such mutations are likely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
200 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 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 1 | 0 | 0 | 1 |
VUS | 2 | 94 | 8 | 0 | 104 |
Likely Benign | 0 | 2 | 20 | 35 | 57 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 4 | |||
| Total | 2 | 97 | 33 | 35 | 171 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CIZ1 · 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