INPPL1

Chr 11

inositol polyphosphate phosphatase like 1

Also known as: OPSMD, SHIP2

NCBI Gene: 3636ENSG00000165458UniProt: O15357

The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOpsismodysplasia

Clinical highlights

Gene-disease validity (ClinGen)
opsismodysplasia · ARDefinitivesufficient evidence for diagnostic panels
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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
GOF
Mechanism· predicted
📖
GeneReview available — INPPL1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.002
Z-score 5.17
OE 0.28 (0.19–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.60Z-score
OE missense 0.83 (0.78–0.89)
620 obs / 742.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.19–0.42)
0≤0.351.4
Missense OE?0.83 (0.78–0.89)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 17 / 60.3Missense obs/exp: 620 / 742.9Syn Z: -0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INPPL1 · 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