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POMGNT2

POMGNT2
Identifiers
AliasesPOMGNT2, AGO61, C3orf39, GTDC2, MDDGA8, protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-), MDDGC8
External IDsOMIM: 614828; MGI: 2143424; GeneCards: POMGNT2
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.4.1.312↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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

Location (UCSC)Chr 3: 43.08 – 43.11 MbChr 9: 121.81 – 121.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000144647 – Ensembl, May 2017
  2. ^ a b c 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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