Beta-1,3-N-Acetylgalactosaminyltransferase 2

Alternative Names

  • B3GALNT2
  • UDP-GalNAc:Beta-GLcNAc-Beta-1,3-Galactosaminyltransferase, Polypeptide 2
  • B3GalNAc-T2
  • MGC39558
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OMIM Number

610194

NCBI Gene ID

148789

Uniprot ID

Q8NCR0

Length

63,828 bases

No. of Exons

14

No. of isoforms

2

Protein Name

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Molecular Mass

56704 Da

Amino Acid Count

500

Genomic Location

chr1:235,440,653-235,504,480

Gene Map Locus
1q42.3

Description

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152490.5:c.448C>TUnited Arab EmiratesNC_000001.11:g.235484429G>APathogenicLikely PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11NG_033219.2:g.25053C>T; NM_152490.5:c.448C>T; NP_689703.1:p.Arg150Ter1282726649578921
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