B3GALNT2

Summary

Gene Symbol: B3GALNT2
Description: beta-1,3-N-acetylgalactosaminyltransferase 2
Alias: B3GalNAc-T2, MDDGA11, UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2, UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2, beta-1,3-GalNAc-T2
Species: human
Products:     B3GALNT2

Top Publications

  1. Yang T, Wang Y, Dai W, Zheng X, Wang J, Song S, et al. Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity. J Hematol Oncol. 2018;11:50 pubmed publisher
    ..1,3-N-acetylgalactosaminyltransferase II (B3GALNT2) belongs to the ?-1,3-glycosyltransferases (b3GT) family and has been reported to regulate development of both ..
  2. Xue J, Laine R, Matta K. Enhancing MS(n) mass spectrometry strategy for carbohydrate analysis: A b2 ion spectral library. J Proteomics. 2015;112:224-49 pubmed publisher
    ..this method examining levels of expressed activities of two glycosyl transferases in cancer cell lines: β3(B3GALNT2) and β4GalNAcT(B4GALNT3&4) that generate GalNAcβ3GlcNAcβ and GalNAcβ4GlcNAcβ...
  3. Wu Z, Tatge T, Grill A, Zou Y. Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc. Cell Chem Biol. 2018;25:1428-1435.e3 pubmed publisher
    ..In this report, closed sites are detected using in vitro incorporation of GalNAz by B3GALNT2, and open sites are detected by in vitro incorporation of GlcNAz by O-GlcNAc transferase (OGT), via click ..
  4. Maroofian R, Riemersma M, Jae L, Zhianabed N, Willemsen M, Wissink Lindhout W, et al. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome Med. 2017;9:118 pubmed publisher
    ..an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2. The first family comprises two brothers of Dutch non-consanguineous parents presenting with mild ID and ..
  5. Ducro B, Schurink A, Bastiaansen J, Boegheim I, van Steenbeek F, Vos Loohuis M, et al. A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. BMC Genomics. 2015;16:761 pubmed publisher
    ..6 controls of gene exons within the region revealed a mutation in β-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) as the likely cause of hydrocephalus in Friesian horses. The nonsense mutation XM_001491545 c...
  6. Ayala Valdovinos M, Galindo García J, Sánchez Chiprés D, Duifhuis Rivera T. Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México. Mol Cell Probes. 2017;32:69-71 pubmed publisher
    ..Here, the hydrocephalus-associated c.1423C > T mutation in B3GALNT2 gene was detected with PCR-RFLP and PCR-PIRA methods for horse genotyping...
  7. Ho M, Glenn O, Sherr E, Strober J. Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation. Pediatr Radiol. 2017;47:884-888 pubmed publisher
    The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described...
  8. Hiruma T, Togayachi A, Okamura K, Sato T, Kikuchi N, Kwon Y, et al. A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc. J Biol Chem. 2004;279:14087-95 pubmed
    ..Although the GalNAcbeta1-3GlcNAcbeta1-R structure has not been reported in humans or other mammals, we have discovered a novel human glycosyltransferase producing this structure on N- and O-glycans. ..
  9. Stevens E, Carss K, Cirak S, Foley A, Torelli S, Willer T, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan. Am J Hum Genet. 2013;92:354-65 pubmed publisher
    ..two individuals affected by a dystroglycanopathy with mutations in ?-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2). B3GALNT2 transfers N-acetyl galactosamine (GalNAc) in a ?-1,3 linkage to N-acetyl glucosamine (GlcNAc)...

More Information

Publications13

  1. Yoshida Moriguchi T, Willer T, Anderson M, Venzke D, Whyte T, Muntoni F, et al. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science. 2013;341:896-9 pubmed publisher
    ..1,4-N-acetylglucosaminyltransferase whose product could be extended by ? 1,3-N-acetylgalactosaminyltransferase2 (B3GALNT2) to form the O-mannosyl trisaccharide...
  2. Hedberg C, Oldfors A, Darin N. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. Eur J Hum Genet. 2014;22:707-10 pubmed publisher
    ..patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (?-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2)...
  3. Matsuo T, Komatsu M, Yoshimaru T, Kiyotani K, Miyoshi Y, Sasa M, et al. Involvement of B3GALNT2 overexpression in the cell growth of breast cancer. Int J Oncol. 2014;44:427-34 pubmed publisher
    ..Here, we report the critical role of ?1,3-N-acetylgalactosaminyltransferase II (B3GALNT2), which transfers N-acetylgalactosamine (GalNAc) in a ?1,3 linkage to N-acetylglucosamine, in the growth of ..
  4. Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, et al. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. Neuromuscul Disord. 2017;27:793-803 pubmed publisher
    ..Fifteen patients carried mutations in the recently discovered ISPD, GMPPB and B3GALNT2 genes...