CIP2A

Chr 3

cellular inhibitor of PP2A

Also known as: KIAA1524, NOCIVA, p90

The protein inhibits protein phosphatase PP2A and, together with TOPBP1, facilitates clustering of chromosome fragments during mitosis to maintain genome stability. Mutations cause an autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, and seizures. The gene shows minimal constraint against loss-of-function variants based on population data.

GeneReviewsOMIMResearchSummary from RefSeq, UniProt
LOEUF 0.84
Clinical SummaryCIP2A
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📖
GeneReview available — CIP2A
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.000
Z-score 2.44
OE 0.61 (0.450.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.67Z-score
OE missense 0.91 (0.840.99)
401 obs / 440.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.61 (0.450.84)
00.351.4
Missense OE0.91 (0.840.99)
00.61.4
Synonymous OE1.11
01.21.6
LoF obs/exp: 28 / 45.9Missense obs/exp: 401 / 440.5Syn Z: -1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CIP2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →