POMGNT2

POMGNT2
Identifiers
Aliases	POMGNT2, AGO61, C3orf39, GTDC2, MDDGA8, protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-), MDDGC8
External IDs	OMIM: 614828; MGI: 2143424; HomoloGene: 32795; GeneCards: POMGNT2; OMA:POMGNT2 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	43,106,085 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	121,826,176 bp
RNA expression pattern
	Top expressed in
	lateral nuclear group of thalamus; ; right hemisphere of cerebellum; ; cardiac muscle tissue of right atrium; ; left uterine tube; ; myocardium of left ventricle; ; body of uterus; ; cerebellar vermis; ; prefrontal cortex; ; right frontal lobe; ; pars compacta;
	Top expressed in
	facial motor nucleus; ; otolith organ; ; substantia nigra; ; utricle; ; ventromedial nucleus; ; paraventricular nucleus of hypothalamus; ; arcuate nucleus; ; nucleus of stria terminalis; ; dorsomedial hypothalamic nucleus; ; median eminence;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; protein O-GlcNAc transferase activity; protein binding; glycosyltransferase activity; acetylglucosaminyltransferase activity;
Cellular component	integral component of membrane; endoplasmic reticulum; membrane; endoplasmic reticulum membrane;
Biological process	protein glycosylation; protein O-linked glycosylation; neuron migration; protein O-linked mannosylation;
	Sources:Amigo / QuickGO
Orthologs
	84892
	215494
	ENSG00000144647
	ENSMUSG00000066235
	Q8NAT1
	Q8BW41
	NM_032806
	NM_001289558; NM_001289559; NM_001289560; NM_153540
	NP_116195
NP_001276487; NP_001276488; NP_001276489; NP_705768; NP_001395035;
	NP_001395036
	Wikidata
View/Edit Human	View/Edit Mouse

Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 is an enzyme which is encoded by the gene POMGNT2.^[5]

Gene

The POMGNT2 gene is located on the short arm (p) of chromosome 3 on position 22.1, from base pair from base pair 43,079,229 to base pair 43,106,085.^[6]

Function

This enzyme is located in the endoplasmic reticulum (ER), which has β-1,4-N-Acetylglucosaminyl-transferase activity on α-Dystroglycan protein.^[7]

Clinical significance

Mutations in this gene causes autosomal recessive form of Limb-Girdle muscular dystrophy and Walker-Warburg syndrome.^[8]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000144647 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066235 – 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.
↑ "Entry - *614828 - PROTEIN O-MANNOSE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE 2; POMGNT2- OMIM- (OMIM.ORG)". www.omim.org. Retrieved 2025-11-06.
↑ "Gene: POMGNT2 (ENSG00000144647) - Summary - Homo_sapiens - Ensembl genome browser 115". asia.ensembl.org. Retrieved 2025-11-06.
↑ Halmo SM, Singh D, Patel S, Wang S, Edlin M, Boons GJ, et al. (February 2017). "Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan". The Journal of Biological Chemistry. 292 (6): 2101–2109. doi:10.1074/jbc.M116.764712. PMC 5313085. PMID 27932460.
↑ Cassone M, Fiorillo C, Zara F, Vitali C (July 2021). "New phenotype caused by POMGNT2 mutations". BMJ Case Reports. 14 (7) e242358. doi:10.1136/bcr-2021-242358. PMC 8728375. PMID 34301702.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000144647 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066235 – 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.

[5] "Entry - *614828 - PROTEIN O-MANNOSE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE 2; POMGNT2- OMIM- (OMIM.ORG)". www.omim.org. Retrieved 2025-11-06.

[6] "Gene: POMGNT2 (ENSG00000144647) - Summary - Homo_sapiens - Ensembl genome browser 115". asia.ensembl.org. Retrieved 2025-11-06.

[7] Halmo SM, Singh D, Patel S, Wang S, Edlin M, Boons GJ, et al. (February 2017). "Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan". The Journal of Biological Chemistry. 292 (6): 2101–2109. doi:10.1074/jbc.M116.764712. PMC 5313085. PMID 27932460.

[8] Cassone M, Fiorillo C, Zara F, Vitali C (July 2021). "New phenotype caused by POMGNT2 mutations". BMJ Case Reports. 14 (7) e242358. doi:10.1136/bcr-2021-242358. PMC 8728375. PMID 34301702.

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