POMK

POMK
Identifiers
Aliases	POMK, MDDGA12, SGK196, MDDGC12, protein-O-mannose kinase, protein O-mannose kinase
External IDs	OMIM: 615247; MGI: 1921903; GeneCards: POMK
Enzyme activity
Gene location (Human)
Chr.	Chromosome 8 (human)
End	43,131,180 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	26,484,161 bp
RNA expression pattern
	Top expressed in
	paraflocculus of cerebellum; ; middle temporal gyrus; ; Brodmann area 10; ; frontal pole; ; cerebellar vermis; ; Brodmann area 23; ; middle frontal gyrus; ; lateral nuclear group of thalamus; ; entorhinal cortex; ; postcentral gyrus;
	Top expressed in
	stroma of bone marrow; ; external carotid artery; ; cumulus cell; ; motor neuron; ; facial motor nucleus; ; interventricular septum; ; internal carotid artery; ; visual cortex; ; Region I of hippocampus proper; ; calvaria;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; protein kinase activity; phosphotransferase activity, alcohol group as acceptor; kinase activity; transferase activity; ATP binding; carbohydrate kinase activity;
Cellular component	membrane; integral component of membrane; endoplasmic reticulum; endoplasmic reticulum membrane;
Biological process	neuromuscular process; sensory perception of pain; phosphorylation; neuron migration; learning or memory; carbohydrate phosphorylation; brain development; protein phosphorylation; protein O-linked glycosylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	84197
	74653
	ENSG00000185900
	ENSMUSG00000037251
	Q9H5K3
	Q3TUA9
	NM_001277971; NM_032237
	NM_029037
	NP_001264900; NP_115613
	NP_083313
	Wikidata
View/Edit Human	View/Edit Mouse

Protein O-mannose kinase is an enzyme encoded by POMK gene.^[5]

Gene

POMK is located on the short arm (p) of chromosome 8 on position 11.21, from base pair 43,093,498 to base pair 43,131,180.^[6]^[7]

Function

This enzyme is located in the ER, and phosphorylates mannose on M3 core of dystroglycan.^[8]

Clinical significance

Mutations in this gene can cause Limb-Girdle muscular dystrophy, Muscle-eye-brain disease and Walker-Warburg syndrome.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185900 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037251 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entry - *615247 - Protein-O-Mannose Kinase; POMK - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.
↑ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.
↑ "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.
↑ Walimbe AS, Okuma H, Joseph S, Yang T, Yonekawa T, Hord JM, et al. (September 2020). "POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan". eLife. 9 e61388. eLife Sciences Publications Limited. doi:10.7554/elife.61388. PMC 7556876. PMID 32975514.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000185900 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037251 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Entry_615247_Protein-5] 1 2 "Entry - *615247 - Protein-O-Mannose Kinase; POMK - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.

[6] "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.

[7] "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.

[8] Walimbe AS, Okuma H, Joseph S, Yang T, Yonekawa T, Hord JM, et al. (September 2020). "POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan". eLife. 9 e61388. eLife Sciences Publications Limited. doi:10.7554/elife.61388. PMC 7556876. PMID 32975514.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]