INPP4B

Chr 4

inositol polyphosphate-4-phosphatase type II B

NCBI Gene: 8821ENSG00000109452UniProt: O15327OMIM: 607494

INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
31
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.35LOEUF
pLI 0.552
Z-score 5.37
OE 0.22 (0.14–0.35)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.13Z-score
OE missense 0.85 (0.79–0.93)
410 obs / 479.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.14–0.35)
0≤0.351.4
Missense OE?0.85 (0.79–0.93)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 12 / 55.0Missense obs/exp: 410 / 479.5Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INPP4B · 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