POMT2

Chr 14q24.3

protein O-mannosyltransferase 2

Aliases:: LGMD2N
MANE:: ENST00000261534.9

OMIM: 607439 ↗NCBI: 29954 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

POMT2 · Q9UKY4

v62025-08-01

Predicted Aligned Error matrix for POMT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.6/ 100

Confident

750 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)24%
Low(50–70)3%
Very low(< 50)7%

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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
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

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Disease associations (Open Targets)

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
0.82
autosomal recessive limb-girdle muscular dystrophy type 2N
0.80
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
0.80
autosomal recessive limb-girdle muscular dystrophy
0.59
muscular dystrophy-dystroglycanopathy, type A
0.47
muscular dystrophy
0.47
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
0.47
hereditary disease
0.42
myopathy caused by variation in POMT2
0.41
limb-girdle muscular dystrophy
0.37

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

Protein function (UniProt)

Protein O-mannosyl-transferase 2

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129)