Gene: B3GALNT2

Alternate names for this Gene: B3GalNAc-T2|MDDGA11

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.3

Description of this Gene: beta-1,3-N-acetylgalactosaminyltransferase 2

Type of Gene: protein-coding

rs9786986 in B3GALNT2 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs757347274 in B3GALNT2 gene and Dysmorphic features PMID 24084573 2014 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

rs367543072 in B3GALNT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

PMID 29273094 2017 B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

rs757347274 in B3GALNT2 gene and Muscle hypotonia PMID 24084573 2014 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.