IMPA2

Chr 18

inositol monophosphatase 2

NCBI Gene: 3613ENSG00000141401UniProt: O14732

This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.001
Z-score 1.77
OE 0.49 (0.28–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.85Z-score
OE missense 0.82 (0.71–0.94)
140 obs / 171.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.28–0.92)
0≤0.351.4
Missense OE?0.82 (0.71–0.94)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 7 / 14.2Missense obs/exp: 140 / 171.3Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IMPA2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients