INPP5E

Chr 9q34.3

inositol polyphosphate-5-phosphatase E

Aliases:: PPI5PIV, CORS1, pharbin
MANE:: ENST00000371712.4

OMIM: 613037 ↗NCBI: 56623 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

INPP5E · Q9NRR6

v62025-08-01

Predicted Aligned Error matrix for INPP5E — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.3/ 100

Confident

644 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)5%
Low(50–70)6%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Joubert syndrome 1
0.83
Joubert syndrome
0.80
MORM syndrome
0.75
Joubert syndrome and related disorders
0.52
Retinal dystrophy
0.49
Rod-cone dystrophy
0.42
Joubert syndrome with ocular defect
0.38
Joubert syndrome with hepatic defect
0.38
hereditary disease
0.38
skin cancer
0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylinositol polyphosphate 5-phosphatase type IV

Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (By similarity) (PubMed:10764818). Specific for lipid substrates, inactive towards water soluble inositol phosphates (PubMed:10764818). Can also remove the 5-phosphate from 1D-myo-inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) (PubMed:40969890). Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity)

Curated MONDO disease pages that list INPP5E among their top associated genes.

Joubert syndromeRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with INPP5E