MGAT2

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT2 gene.[5][6]

MGAT2
Identifiers
AliasesMGAT2, CDG2A, CDGS2, GLCNACTII, GNT-II, GNT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase, alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
External IDsOMIM: 602616 MGI: 2384966 HomoloGene: 1806 GeneCards: MGAT2
Gene location (Human)
Chr.Chromosome 14 (human)[1]
Band14q21.3Start49,620,799 bp[1]
End49,623,481 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

4247

217664

Ensembl

ENSG00000168282

ENSMUSG00000043998

UniProt

Q10469

Q921V5

RefSeq (mRNA)

NM_002408
NM_001015883

NM_146035

RefSeq (protein)

NP_002399

NP_666147

Location (UCSC)Chr 14: 49.62 – 49.62 MbChr 12: 69.18 – 69.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000168282 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000043998 - 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. Tan J, D'Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, Leong P, Schachter H (Sep 1995). "The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein". Eur J Biochem. 231 (2): 317–28. doi:10.1111/j.1432-1033.1995.tb20703.x. PMID 7635144.
  6. "Entrez Gene: MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase".

Further reading


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