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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
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
Physical map
LOC389365 6 LOC389365 OFCC1 6p24.3 orofacial cleft 1 candidate 1 LOC346096 6p24.1 similar to Rpl7a protein LOC391868 6 similar to 60S ribosomal protein L21 LOC391869 6 similar to ribosomal protein L7-like 1 TFAP2A 6p24.3-p24.2 transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) MGC40222 6p24.1 hypothetical protein MGC40222 MRPL48P1 6p24.1 mitochondrial ribosomal protein L48 pseudogene 1 GCNT2 6p24.1 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme LOC389366 6 similar to C6orf52 protein PAK1IP1 6p24.1 PAK1 interacting protein 1 C6orf53 6p24.1 chromosome 6 open reading frame 53 TMEM14B 6p25.1-p23 transmembrane protein 14B MAK 6q22 male germ cell-associated kinase GCM2 6p23 glial cells missing homolog 2 (Drosophila) LOC221711 6p24.1 hypothetical protein LOC221711 ELOVL2 6p22.3 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 LOC389367 6 LOC389367 LOC389368 6 similar to hypothetical protein D930020E02 NEDD9 6p25-p24 neural precursor cell expressed, developmentally down-regulated 9 C6orf105 6p24.1 chromosome 6 open reading frame 105 LOC389369 6 LOC389369 HIVEP1 6p24.1 human immunodeficiency virus type I enhancer binding protein 1 EDN1 6p24.1 endothelin 1
RNA
TRANSCRIPTS type messenger
text three alternative forms sharing exons 2 and 3, erythrocyte isoform is IGNT3 (Inaba), determining I blood group
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 4540 - 402 ubiquitous 2003 12468428
GCNT2A
3 splicing 4691 - 400 lens epithelium 2003 12468428
GCNT2B
3 splicing 4219 - 402 reticulocytes 2003 12468428
GCNT2C
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   lowly
Digestiveintestinesmall intestine  highly
 intestinelarge intestinecolon highly
Olfactory (smell)olfactory bulb     Homo sapiens
Reproductivemale systemprostate  highly
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryolfactory highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerythrocyte
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    during oncogenesis
    tumoral     --over  
    in highly metastatic breast cancer cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    blocking TGFB/GCNT2 signaling is a promising approach for targeting metastatic breast cancer
    ANIMAL & CELL MODELS