POMK

Chr 8p11.21

protein O-mannose kinase

Aliases:: FLJ23356, SgK196
MANE:: ENST00000331373.10

OMIM: 615247 ↗NCBI: 84197 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

POMK · Q9H5K3

v62025-08-01

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

Mean pLDDT

91.6/ 100

Very high

350 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)8%
Low(50–70)3%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
0.80
limb-girdle muscular dystrophy due to POMK deficiency
0.68
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
0.64
muscular dystrophy-dystroglycanopathy, type A
0.56
congenital muscular dystrophy with cerebellar involvement
0.38
drug allergy
0.21
hereditary disease
0.19
genetic developmental and epileptic encephalopathy
0.08
bilateral striopallidodentate calcinosis
0.08
breast cancer
0.08

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

Protein function (UniProt)

Protein O-mannose kinase

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif