INPP5K

Chr 17p13.3

inositol polyphosphate-5-phosphatase K

Aliases:: SKIP
MANE:: ENST00000421807.7

OMIM: 607875 ↗NCBI: 51763 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

INPP5K · Q9BT40

v62025-08-01

Predicted Aligned Error matrix for INPP5K — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.4/ 100

Confident

448 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)16%
Low(50–70)7%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

muscular dystrophy, congenital, with cataracts and intellectual disability
0.79
atrial fibrillation
0.40
atrial flutter
0.38
congenital muscular dystrophy
0.34
congenital myopathy
0.34
hereditary disease
0.34
neurodegenerative disease
0.25
Sjogren syndrome
0.24
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
0.15
distal myopathy
0.12

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

Protein function (UniProt)

Inositol polyphosphate 5-phosphatase K

Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity)