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) [1] Band 3p22.1 Start 43,079,229 bp [1] End 43,106,085 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 F4 Start 121,810,672 bp [2] End 121,826,176 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 84892 215494 Ensembl ENSG00000144647 ENSMUSG00000066235 UniProt Q8NAT1 Q8BW41 RefSeq (mRNA) NM_032806 NM_001289558 NM_001289559 NM_001289560 NM_153540 RefSeq (protein) NP_116195 NP_001276487 NP_001276488 NP_001276489 NP_705768 NP_001395035 NP_001395036 Location (UCSC) Chr 3: 43.08 – 43.11 Mb Chr 9: 121.81 – 121.83 Mb PubMed search [3] [4]
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. GRCh38: Ensembl release 89: ENSG00000144647 – Ensembl, May 2017
2. 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, Stephanie M.; Singh, Danish; Patel, Sneha; Wang, Shuo; Edlin, Melanie; Boons, Geert-Jan; Moremen, Kelley W.; Live, David; Wells, Lance (2017-02-10). "Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan *". Journal of Biological Chemistry. 292 (6): 2101–2109. doi: 10.1074/jbc.M116.764712 . ISSN   0021-9258. PMC   5313085 . PMID   27932460.
8. Cassone, Marco; Fiorillo, Chiara; Zara, Federico; Vitali, Carlo (2021-07-01). "New phenotype caused by POMGNT2 mutations". BMJ Case Reports CP. 14 (7) e242358. doi:10.1136/bcr-2021-242358. ISSN   1757-790X. PMC   8728375 . PMID   34301702.