Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

B3GALNT2

contributors: mct - updated : 03-04-2013

HGNC name	UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
HGNC id	28596

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MDC1B muscular dystrophy, congenital, 1B
Location	1q42.3      Physical location : 235.610.532 - 235.667.781
Synonym symbol(s)	MGC39558, B3GalNAc-T2
EC.number	2.4.1.-

DNA

TYPE	functioning gene
STRUCTURE	57.25 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152490 12 - 4720 NP_689703 - 500 - 2013 23453667

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Reproductive female system ovary         male system testis     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a domain with beta1,3-glycosyltransferase motifs, which are widely conserved in the beta1,3-galactosyltransferase and beta1,3-N-acetylglucosaminyltransferase families

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus
text	type II membrane protein
	localized to the endoplasmic reticulum

basic FUNCTION	synthesizing a unique carbohydrate structure, GalNAcbeta1-3GlcNAc on N- and O-glycans
	transfers N-acetyl galactosamine (GalNAc) in a beta-1,3 linkage to N-acetyl glucosamine (GlcNAc)
	role for B3GALNT2 in the glycosylation of alpha-Dystroglycan

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MDC1B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS