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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POMT2
protein O-mannosyltransferase 2
Chromosome 14 Β· 14q24.3
NCBI Gene: 29954Ensembl: ENSG00000009830.14HGNC: HGNC:19743UniProt: Q9UKY4
49PubMed Papers
23Diseases
0Drugs
153Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mannosyltransferase activityprotein O-linked glycosylation via mannoseendoplasmic reticulumdolichyl-phosphate-mannose-protein mannosyltransferase activitymuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2autosomal recessive limb-girdle muscular dystrophy type 2Nmuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2autosomal recessive limb-girdle muscular dystrophy
✦AI Summary

POMT2 encodes protein O-mannosyltransferase 2, a key enzyme catalyzing the first step of O-linked mannosyl glycosylation by transferring mannosyl residues to serine or threonine residues 1. Functional enzyme activity requires heterodimerization with POMT1; expression of either protein alone is insufficient 23. The complex is essentially dedicated to O-mannosylation of alpha-dystroglycan (Ξ±-DG) and select other proteins, but not cadherins 3. Localizing to the endoplasmic reticulum, POMT2 is crucial for maintaining proper Ξ±-DG glycosylation, which stabilizes the dystrophin-associated glycoprotein complex at the muscle sarcolemma. POMT2 mutations cause alpha-dystroglycanopathies, a group of congenital muscular dystrophies characterized by deficient Ξ±-DG glycosylation 4. Disease presentations range from severe Walker-Warburg syndromeβ€”featuring brain and eye anomalies with mortality before age three 5β€”to milder limb-girdle muscular dystrophy type R14 with adult-onset proximal weakness 6. Clinical manifestations include exercise intolerance, mental retardation, elevated creatine kinase, and myopathic muscle pathology 7. Recent evidence indicates pathogenic POMT2 variants trigger nonsense-mediated mRNA decay and protein structural instability 6. Additionally, POMT2 deficiency may contribute to cardiac complications in carbohydrate metabolism disorders 8, expanding its clinical significance beyond skeletal muscle.

Sources cited
1
POMT1 and POMT2 catalyze the first step in O-mannosyl glycan synthesis; human POMT1 and POMT2 have discrete functions in complex formation and enzymatic activity
PMID: 21782786
2
Coexpression of POMT1 and POMT2 is necessary for enzyme activity; expression of either alone is insufficient
PMID: 14699049
3
POMT1 and POMT2 are essentially dedicated to O-mannosylation of alpha-DAG1 but not of cadherins; both proteins required for activity
PMID: 28512129
4
POMT2 mutations identified in dystroglycanopathy cohort; patients with POMT2 mutations present with limb girdle muscular dystrophy and other manifestations of deficient Ξ±-DG glycosylation
PMID: 33200426
5
POMT1 and POMT2 mutations cause Walker-Warburg syndrome, characterized by congenital muscular dystrophy with brain and eye abnormalities and hypoglycosylation of Ξ±-dystroglycan
PMID: 16887026
6
POMT2 mutations result in Ξ±-dystroglycanopathy presenting as congenital muscular dystrophy or limb-girdle muscular dystrophy with elevated creatine kinase and myopathic changes
PMID: 34565739
7
Novel POMT2 variants cause limb-girdle muscular dystrophy R14; variants trigger nonsense-mediated mRNA decay and affect protein stability; patients present with adult-onset proximal weakness and decreased Ξ±-dystroglycan expression
PMID: 40102912
8
POMT2 is among genes linked to inherited metabolic disorders of carbohydrate metabolism that present with cardiomyopathies and cardiac defects
PMID: 37239976
Disease Associationsβ“˜23
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2Open Targets
0.82Strong
autosomal recessive limb-girdle muscular dystrophy type 2NOpen Targets
0.80Strong
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2Open Targets
0.80Strong
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.60Moderate
muscular dystrophy-dystroglycanopathy, type AOpen Targets
0.47Moderate
muscular dystrophyOpen Targets
0.47Moderate
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycanOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.41Moderate
myopathy caused by variation in POMT2Open Targets
0.41Moderate
limb-girdle muscular dystrophyOpen Targets
0.37Weak
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1Open Targets
0.37Weak
muscle-eye-brain diseaseOpen Targets
0.37Weak
cobblestone lissencephalyOpen Targets
0.37Weak
congenital muscular dystrophy with cerebellar involvementOpen Targets
0.37Weak
congenital muscular dystrophy with intellectual disabilityOpen Targets
0.37Weak
Abnormal brain morphologyOpen Targets
0.27Weak
Congenital muscular alpha-dystroglycanopathy with brain and eye anomaliesOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.14Weak
Elevated circulating creatine kinase concentrationOpen Targets
0.11Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.11Weak
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2UniProt
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2UniProt
Muscular dystrophy-dystroglycanopathy limb-girdle C2UniProt
Pathogenic Variants153
NM_013382.7(POMT2):c.1006+1G>APathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N
β˜…β˜…β˜†β˜†2026
NM_013382.7(POMT2):c.333+1G>TPathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided|Muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|POMT2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 666
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Autosomal recessive limb-girdle muscular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 266
NM_013382.7(POMT2):c.1333-14G>APathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
β˜…β˜…β˜†β˜†2025
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2N|not provided|Intellectual disability|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025β†’ Residue 184
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_013382.7(POMT2):c.673del (p.Trp225fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025β†’ Residue 147
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N
β˜…β˜…β˜†β˜†2025β†’ Residue 588
NM_013382.7(POMT2):c.678del (p.Trp226fs)Pathogenic
Muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025β†’ Residue 226
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|not provided|POMT2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025β†’ Residue 421
NM_013382.7(POMT2):c.1485-2_1485-1delLikely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025
NM_013382.7(POMT2):c.879_880del (p.Thr295fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|POMT2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 295
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)Pathogenic
not provided|Inborn genetic diseases|POMT2-related disorder|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N
β˜…β˜…β˜†β˜†2025β†’ Residue 572
NM_013382.7(POMT2):c.1786-2A>TPathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2025
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|not provided|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N
β˜…β˜…β˜†β˜†2024β†’ Residue 638
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
β˜…β˜…β˜†β˜†2024β†’ Residue 213
NM_013382.7(POMT2):c.333+1G>APathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
β˜…β˜…β˜†β˜†2024
View on ClinVar β†—
Related Genes
RXYLT1Protein interaction99%DPM1Protein interaction99%DPM2Protein interaction99%B4GAT1Protein interaction99%DOLKProtein interaction99%POMKProtein interaction98%
Tissue Expression6 tissues
Ovary
100%
Liver
85%
Lung
72%
Heart
60%
Bone Marrow
52%
Brain
49%
Gene Interaction Network
Click a node to explore
POMT2RXYLT1DPM1DPM2B4GAT1DOLKPOMK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UKY4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.65–0.94]
RankingsWhere POMT2 stands among ~20K protein-coding genes
  • #8,998of 20,598
    Most Researched49
  • #500of 5,498
    Most Pathogenic Variants153 Β· top 10%
  • #8,804of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedPOMT2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
PMID: 33200426
Clin Genet Β· 2021
0.90
3
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
0.80
4
Walker-Warburg syndrome.
PMID: 16887026
Orphanet J Rare Dis Β· 2006
0.70
5
The SHDRA syndrome-associated gene
PMID: 37186866
Proc Natl Acad Sci U S A Β· 2023
0.60