INPP5A

Chr 10

inositol polyphosphate-5-phosphatase A

Also known as: 5PTASE

NCBI Gene: 3632ENSG00000068383UniProt: Q14642

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]

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0
Active trials
5
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.31
LOEUF· LoF intol.
—
Mechanism
Clinical Summary— INPP5A
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.31LOEUF
pLI 0.981
Z-score 4.38
OE 0.13 (0.07–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.78Z-score
OE missense 0.69 (0.61–0.78)
176 obs / 256.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.13 (0.07–0.31)
0≤0.351.4
Missense OE0.69 (0.61–0.78)
0≤0.61.4
Synonymous OE1.10
0≤1.21.6
LoF obs/exp: 4 / 29.8Missense obs/exp: 176 / 256.2Syn Z: -0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INPP5A · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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