Jump to content

GCNT2

From Wikipedia, the free encyclopedia
(Redirected from GCNT2 (gene))
GCNT2
Identifiers
AliasesGCNT2, CCAT, CTRCT13, GCNT2C, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), glucosaminyl (N-acetyl) transferase 2 (I blood group)
External IDsOMIM: 600429; MGI: 1100870; HomoloGene: 41535; GeneCards: GCNT2; OMA:GCNT2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001491
NM_145649
NM_145655
NM_001374747

NM_008105
NM_023887
NM_133219

RefSeq (protein)

NP_032131
NP_076376
NP_573482

Location (UCSC)Chr 6: 10.49 – 10.63 MbChr 13: 41.01 – 41.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase is an enzyme that in humans is encoded by the GCNT2 gene.[5][6][7]

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described.[7]

References

[edit]
  1. ^ a b c ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021360Ensembl, 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. ^ Bierhuizen MF, Mattei MG, Fukuda M (Apr 1993). "Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family". Genes Dev. 7 (3): 468–78. doi:10.1101/gad.7.3.468. PMID 8449405.
  6. ^ Yeh JC, Ong E, Fukuda M (Mar 1999). "Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches". J Biol Chem. 274 (5): 3215–21. doi:10.1074/jbc.274.5.3215. PMID 9915862.
  7. ^ a b "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)".

Further reading

[edit]