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FLASH GENE

Symbol

B4GALNT2

contributors: - updated : 21-12-2006

HGNC name	beta-1,4-N-acetyl-galactosaminyl transferase 2
HGNC id	24136

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SD blood group Sd system
Location	17q21.3      Physical location : 47.209.821 - 47.247.351
Synonym name	putative beta 1,4 N-acetylgalactosamine transferase 1
	UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase
Synonym symbol(s)	NAGALT, B4GALT, GALGT2, Sda, Cad
EC.number	2.4.1.-

DNA

TYPE	functioning gene
STRUCTURE	36.00 kb     11 Exon(s)

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed GALGT2 V1 - - 1792 63.3 566 - Montiel GALGT2 V2 - - 1688 - 506 - Montiel

EXPRESSION

Type

constitutive of

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 small intestine ileum       intestine large intestine rectum   highly   stomach

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to chimpanzee IGF2BP1
	homolog to murine B4galnt2

Homologene

FAMILY

glycosyltransferase 2 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION

beta 1,4 N-acetylgalactosamine transferase, involved in the synthesis of blood group Sda

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

glycosylation

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

modifier of VWF expression-changing from gut to vascular endothelium in mice