INPP5F

Chr 10

inositol polyphosphate-5-phosphatase F

Also known as: MSTP007, MSTPO47, SAC2, hSAC2

NCBI Gene: 22876ENSG00000198825UniProt: Q9Y2H2OMIM: 609389

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.000
Z-score 4.60
OE 0.37 (0.27–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.35Z-score
OE missense 0.84 (0.78–0.91)
503 obs / 595.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.27–0.52)
0≤0.351.4
Missense OE?0.84 (0.78–0.91)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 23 / 62.2Missense obs/exp: 503 / 595.9Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INPP5F · 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