INPP4A

Chr 2q11.2

inositol polyphosphate-4-phosphatase type I A

MANE:: ENST00000409851.8

OMIM: 600916 ↗NCBI: 3631 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

INPP4A · Q96PE3

v62025-08-01

Predicted Aligned Error matrix for INPP4A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

977 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)20%
Low(50–70)4%
Very low(< 50)19%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder
0.55
Intellectual disability
0.45
microcephaly
0.44
epilepsy
0.37
Cerebellar hypoplasia
0.37
autosomal recessive non-syndromic intellectual disability
0.37
dyskeratosis congenita
0.27
Hypotonia
0.27
Pectus excavatum
0.27
Nystagmus
0.27

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

Protein function (UniProt)

Inositol polyphosphate-4-phosphatase type I A

Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15716355, PubMed:20463662). Also catalyzes inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity) (PubMed:30071275). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity)