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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POMK
protein O-mannose kinase
Chromosome 8 · 8p11.21
NCBI Gene: 84197Ensembl: ENSG00000185900.12HGNC: HGNC:26267UniProt: Q9H5K3
38PubMed Papers
22Diseases
0Drugs
27Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein O-linked glycosylationcarbohydrate phosphorylationprotein bindingphosphotransferase activity, alcohol group as acceptormuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12limb-girdle muscular dystrophy due to POMK deficiencymuscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12muscular dystrophy-dystroglycanopathy, type A
✦AI Summary

POMK (protein O-mannose kinase) is a glycan-specific kinase that catalyzes phosphorylation at the 6-position of O-mannose within the trisaccharide GalNAc-β3-GlcNAc-β4-mannose on α-dystroglycan 1. This phosphorylated O-mannosyl structure is essential for high-affinity binding of α-dystroglycan to laminin G-domain-containing extracellular matrix proteins [UniProt data supported by 26]. POMK localizes predominantly to the cis/medial-Golgi apparatus and functions within a sequential glycosylation pathway involving POMGNT2, B3GalNT2, and downstream glycosyltransferases 3. The kinase possesses a unique active site architecture with non-canonical residue positioning and disulfide bridge stabilization, recognizing substrates through specific GalNAc-β3-GlcNAc interactions 1. Biallelic POMK mutations cause alpha-dystroglycanopathies, including Walker-Warburg syndrome and limb-girdle muscular dystrophy with congenital brain and eye anomalies 45. These conditions manifest as progressive muscular weakness with severe CNS malformations due to impaired extracellular matrix composition and satellite cell dysfunction 6. Additionally, altered POMK expression has been identified in various human cancers, where overexpression contributes to pro-oncogenic signaling through dysregulated dystroglycan glycosylation 7.

Sources cited
1
Crystal structure of POMK reveals unique active site architecture, substrate recognition mechanism, and catalytic mechanism of O-mannose phosphorylation
PMID: 27879205
2
POMK localizes to cis/medial-Golgi apparatus and functions in sequential O-glycan modification of dystroglycan
PMID: 40324206
3
Biallelic POMK mutations cause Walker-Warburg syndrome with severe CNS and eye malformations
PMID: 32907597
4
POMK associated with anterior segment ocular abnormalities in rare disease gene discovery analysis
PMID: 40011789
5
POMK mutations affect satellite cell function in neuromuscular disorders affecting muscle regeneration
PMID: 35302338
6
POMK is overexpressed in tumors and exerts pro-oncogenic role through dysregulation of dystroglycan glycosylation
PMID: 36494657
Disease Associationsⓘ22
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12Open Targets
0.81Strong
limb-girdle muscular dystrophy due to POMK deficiencyOpen Targets
0.68Moderate
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12Open Targets
0.64Moderate
muscular dystrophy-dystroglycanopathy, type AOpen Targets
0.38Weak
congenital muscular dystrophy with cerebellar involvementOpen Targets
0.37Weak
drug allergyOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
breast cancerOpen Targets
0.08Suggestive
microlissencephalyOpen Targets
0.05Suggestive
cobblestone lissencephaly without muscular or ocular involvementOpen Targets
0.04Suggestive
spinocerebellar ataxia type 12Open Targets
0.04Suggestive
Chudley-McCullough syndromeOpen Targets
0.04Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
lissencephaly due to LIS1 mutationOpen Targets
0.04Suggestive
lissencephaly due to TUBA1A mutationOpen Targets
0.04Suggestive
lissencephaly 4Open Targets
0.04Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.04Suggestive
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticityOpen Targets
0.04Suggestive
Polymicrogyria due to TUBB2B mutationOpen Targets
0.04Suggestive
spastic ataxia 10, autosomal recessiveOpen Targets
0.04Suggestive
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12UniProt
Muscular dystrophy-dystroglycanopathy limb-girdle C12UniProt
Pathogenic Variants27
NM_032237.5(POMK):c.43dup (p.Arg15fs)Pathogenic
not provided|Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2025→ Residue 15
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|not provided
★★☆☆2025→ Residue 4
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2024→ Residue 15
NM_032237.5(POMK):c.386_387del (p.Leu129fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2024→ Residue 129
NM_032237.5(POMK):c.398_399del (p.His133fs)Pathogenic
POMK-related disorder|Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★★☆☆2024→ Residue 133
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency|Limb-girdle muscular dystrophy due to POMK deficiency
★★☆☆2023→ Residue 303
NM_032237.5(POMK):c.61del (p.Val21fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 21
NM_032237.5(POMK):c.43del (p.Arg15fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 15
NM_032237.5(POMK):c.94_98del (p.Thr32fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 32
NM_032237.5(POMK):c.91_98dup (p.Leu34fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 34
NM_032237.5(POMK):c.917dup (p.Leu306fs)Pathogenic
not provided
★☆☆☆2025→ Residue 306
NM_032237.5(POMK):c.754dup (p.Asp252fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 252
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2025→ Residue 83
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2024→ Residue 153
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2023→ Residue 215
NM_032237.5(POMK):c.282+1G>CPathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2023
NM_032237.5(POMK):c.847del (p.Trp283fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2023→ Residue 283
NM_032237.5(POMK):c.724dup (p.Val242fs)Pathogenic
Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
★☆☆☆2023→ Residue 242
NM_032237.5(POMK):c.615dup (p.Asn206fs)Likely pathogenic
POMK-related disorder
★☆☆☆2022→ Residue 206
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency
★☆☆☆2022→ Residue 94
View on ClinVar ↗
Related Genes
DAG1Protein interaction98%FKTNProtein interaction98%DPM1Protein interaction98%DPM2Protein interaction98%POMT1Protein interaction98%DOLKProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
65%
Heart
29%
Lung
16%
Ovary
16%
Liver
12%
Gene Interaction Network
Click a node to explore
POMKDAG1FKTNDPM1DPM2POMT1DOLK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H5K3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.56–1.12]
RankingsWhere POMK stands among ~20K protein-coding genes
  • #10,530of 20,598
    Most Researched38
  • #1,917of 5,498
    Most Pathogenic Variants27
  • #11,575of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedPOMK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.
PMID: 32707033
Mol Cell · 2020
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.90
3
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol · 2022
0.80
4
Rare disease gene association discovery in the 100,000 Genomes Project.
PMID: 40011789
Nature · 2025
0.70
5
Systematic and comprehensive analysis of major localizations of alpha-dystroglycan-specific modifying enzymes.
PMID: 40324206
Glycobiology · 2025
0.60