GeneBe

INPP5J

protein-coding

inositol polyphosphate-5-phosphatase J, the group of Phosphoinositide phosphatases

Gene summary

Predicted to enable inositol trisphosphate phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity; and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in negative regulation of microtubule polymerization. Predicted to act upstream of or within negative regulation of neuron projection development and negative regulation of peptidyl-serine phosphorylation. Located in cytoplasm and ruffle. [provided by Alliance of Genome Resources, Apr 2025]

Previous symbols:
  • PIB5PA

MANE transcript

NM_001284285.2

Inheritance

—

ClinVar variants

U:129B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.85

Max pathogenic AF

—

Genomic locus

chr22:31,122,731-31,134,697

External References & Databases

Ensembl (ENSG00000185133)NCBI Gene (27124)OMIM (606481)HGNC:8956GenCCUniProt (Q15735)AlphaFoldClinVar (INPP5J)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~12.0 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to INPP5J variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 123
not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001284285.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
126
clinvar
2
clinvar
2
clinvar
 130
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total0012942135
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001284285.2RefSeqNP_001271214.113MANE Select
ENST00000331075.10EnsemblENSP00000333262.513MANE Select
NM_001002837.3RefSeqNP_001002837.113Standard
NM_001284286.2RefSeqNP_001271215.112Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Inositol phosphate metabolism - Homo sapiens (human)
  • Phosphatidylinositol signaling system - Homo sapiens (human)
  • Inositol Phosphate Metabolism
  • Inositol Metabolism
  • D-<i>myo</i>-inositol (1,3,4)-trisphosphate biosynthesis

Biological Process

  • phosphatidylinositol biosynthetic process
  • negative regulation of peptidyl-serine phosphorylation
  • inositol phosphate metabolic process
  • inositol phosphate dephosphorylation
  • phosphatidylinositol dephosphorylation

Molecular Function

  • phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
  • protein binding
  • SH3 domain binding
  • phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
  • inositol-1,4,5-trisphosphate 5-phosphatase activity

Cellular Component

  • ruffle
  • cytoplasm
  • cytosol
  • plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000404390
Coding exons
13
Length
11966
Individuals with no LoFs
124639
Homozygous LoFs
1
Heterozygous LoFs
78
Defined
124718
p
0.000317
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.8983393890.8720.00002484108
Missense (PolyPhen)139170.290.816271746
Synonymous1.791251530.8160.000009931256
Loss of Function0.7732731.70.8520.00000183312

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000280.00026rare
Latino/Admixed American0.000420.00038rare
Ashkenazi Jewish00.0absent
East Asian0.0000650.000056rare
Finnish0.0000950.000093rare
European (Non-Finnish)0.000180.00018rare
South Asian0.00130.0012notable
Other0.000360.00033rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Inositol 5-phosphatase, which converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4- phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate- binding proteins that are present at membranes ruffles (By similarity). {ECO:0000250}.;

Recessive Scores

pRec
0.141

Intolerance Scores

LoFtool
0.363
RVIS EVS
-0.22
RVIS percentile EVS
37.43

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.678

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
Feedback | API | MCP | Annotate VCF | Sitemap | About | Privacy & Terms
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.