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FLASH GENE

Symbol

GCNT2

contributors: mct - updated : 28-01-2014

HGNC name	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
HGNC id	4204

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BGIS blood group Ii system
Location	6p24.3      Physical location : 10.521.567 - 10.629.600
Synonym name	I antigen branching enzyme-like
Synonym symbol(s)	IGNT, NACGT1, GCNT5
EC.number	2.4.1.150

DNA

TYPE	functioning gene
STRUCTURE	108.06 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	three alternative forms sharing exons 2 and 3, erythrocyte isoform is IGNT3 (Inaba), determining I blood group

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_145649 5 splicing 4540 NP_663624 - 402 ubiquitous 2003 12468428 GCNT2A NM_001491 3 splicing 4691 NP_001482 - 400 lens epithelium 2003 12468428 GCNT2B NM_145655 3 splicing 4219 NP_663630 - 402 reticulocytes 2003 12468428 GCNT2C

EXPRESSION

Type

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 Cardiovascular heart       lowly Digestive intestine small intestine     highly   intestine large intestine colon   highly Olfactory (smell) olfactory bulb         Homo sapiens Reproductive male system prostate     highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory olfactory   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain, lung, kidney, liver

life cycle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Gcnt2

intraspecies

homolog to GCNT3

Homologene

FAMILY

beta-1-6-N-acetylglucosaminyltransferase gene family

CATEGORY

enzyme

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

basic FUNCTION	converting the linear poly-N-acetyllactosaminoglycans into branched poly-N-acetyllactosaminoglycans
	determinant of the I blood group
	enzyme responsible for the formation of the blood group I antigen

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	is a direct target of the TGFB1-smad pathway and change in GCNT2 expression modulates EMT induced by TGFB1 treatment
	functions together with B3GNT2 to determine Poly-N-acetyllactosamine(PLN) levels in olfactory neurons by regulating beta1,6-branches that promote PLN extension

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BGIS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   during oncogenesis tumoral     --over   in highly metastatic breast cancer cell lines

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     blocking TGFB/GCNT2 signaling is a promising approach for targeting metastatic breast cancer

ANIMAL & CELL MODELS