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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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INPP5B
inositol polyphosphate-5-phosphatase B
Chromosome 1 · 1p34.3
NCBI Gene: 3633Ensembl: ENSG00000204084.15HGNC: HGNC:6077UniProt: B3KMW4
44PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylinositol dephosphorylationmembraneprotein bindingcytosolhypothyroidismcoronary artery diseasecolorectal cancerheart failure
✦AI Summary

INPP5B is an inositol 5-phosphatase that regulates cellular signaling by hydrolyzing phosphate groups from phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) to produce PI(4)P, and from inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) 1. The enzyme functions across multiple cellular compartments including the cytosol, plasma membrane, and primary cilia, where it modulates PI(4,5)P2-dependent processes 1. INPP5B plays critical roles in B cell receptor clustering and signaling by dephosphorylating PI(4,5)P2, which enables actin disassembly and BCR mobilization through increased cofilin-mediated actin severing 2. It also participates in primary cilia formation, with deficiency causing cilia development defects in cultured cells and zebrafish models 3. INPP5B interacts with the small GTPase RAB18 and may influence sterol mobilization and cholesterol biosynthesis 4. In spermatogenesis, INPP5B deficiency in mice results in reduced fertility 5. While INPP5B shares structural similarity with OCRL (mutated in Lowe syndrome), no disease-causing INPP5B mutations have been reported in humans 1. Species-specific differences exist between mouse Inpp5b and human INPP5B in transcription and splicing patterns, suggesting divergent compensatory roles for OCRL deficiency 6. Recent genetic studies identified INPP5B as associated with migraine risk, though mechanistic details require further investigation 7.

Sources cited
1
INPP5B is an inositol 5-phosphatase that preferentially hydrolyzes PI(4,5)P2 and Ins(1,4,5)P3; no disease-causing mutations reported
PMID: 40618840
2
INPP5B regulates actin remodeling and BCR clustering through PI(4,5)P2 dephosphorylation
PMID: 35878408
3
INPP5B localizes to primary cilia and is required for cilia formation
PMID: 23805271
4
INPP5B interacts with RAB18 and is implicated in sterol mobilization
PMID: 37774976
5
INPP5B deficiency in mice affects spermatogenesis and fertility
PMID: 35766372
6
Species-specific differences exist between mouse Inpp5b and human INPP5B in transcription and splicing
PMID: 20872266
7
INPP5B identified as associated with migraine risk through pQTL and eQTL integration studies
PMID: 39578729
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.41Moderate
coronary artery diseaseOpen Targets
0.38Weak
colorectal cancerOpen Targets
0.35Weak
heart failureOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.28Weak
coronary artery bypassOpen Targets
0.28Weak
myocardial infarctionOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.28Weak
neuroinflammatory disorderOpen Targets
0.28Weak
Dent disease type 2Open Targets
0.26Weak
Myocardial IschemiaOpen Targets
0.24Weak
migraine disorderOpen Targets
0.24Weak
thyroid diseaseOpen Targets
0.23Weak
rheumatoid arthritisOpen Targets
0.22Weak
skin cancerOpen Targets
0.21Weak
myxedemaOpen Targets
0.21Weak
autoimmune thyroid diseaseOpen Targets
0.21Weak
actinic keratosisOpen Targets
0.20Weak
hypertensionOpen Targets
0.20Weak
Hashimoto's thyroiditisOpen Targets
0.19Weak
Pathogenic Variants1
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val)Likely pathogenic
Dent disease type 2
☆☆☆☆2016→ Residue 51
View on ClinVar ↗
Related Genes
PIK3CAProtein interaction100%PI4K2AProtein interaction98%PI4K2BProtein interaction98%PI4KBProtein interaction97%PIP5K1CProtein interaction97%PIP5K1AProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
87%
Lung
60%
Liver
57%
Heart
38%
Brain
31%
Gene Interaction Network
Click a node to explore
INPP5BPIK3CAPI4K2API4K2BPI4KBPIP5K1CPIP5K1A
PROTEIN STRUCTURE
Preparing viewer…
PDB4CML · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.63–0.96]
RankingsWhere INPP5B stands among ~20K protein-coding genes
  • #9,603of 20,598
    Most Researched44
  • #5,135of 5,498
    Most Pathogenic Variants1
  • #9,034of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedINPP5B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.
PMID: 40618840
Biochim Biophys Acta Mol Cell Biol Lipids · 2025
1.00
2
Plasma pQTL and brain eQTL integration identifies PNKP as a therapeutic target and reveals mechanistic insights into migraine pathophysiology.
PMID: 39578729
J Headache Pain · 2024
0.90
3
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
PMID: 37774976
J Biol Chem · 2023
0.80
4
Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens.
PMID: 8530037
Genomics · 1995
0.70
5
The inositol 5-phosphatase INPP5B regulates B cell receptor clustering and signaling.
PMID: 35878408
J Cell Biol · 2022
0.60