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GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group))

Identity

Alias_namesNACGT1
II
GCNT5
CCAT
glucosaminyl (N-acetyl) transferase 5
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)
cataract, congenital
Alias_symbol (synonym)IGNT
NAGCT1
bA421M1.1
bA360O19.2
ULG3
Other aliasCTRCT13
GCNT2C
HGNC (Hugo) GCNT2
LocusID (NCBI) 2651
Atlas_Id 52469
Location 6p24.3  [Link to chromosome band 6p24]
Location_base_pair Starts at 10585760 and ends at 10629368 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BTBD3 (20p12.2) / GCNT2 (6p24.3)FARS2 (6p25.1) / GCNT2 (6p24.3)GCNT2 (6p24.3) / GCNT2 (6p24.3)
GCNT2 (6p24.3) / OSM (22q12.2)GCNT2 (6p24.3) / PDE4B (1p31.3)GCNT2 (6p24.3) / TOP2B (3p24.2)
KCNH7 (2q24.2) / GCNT2 (6p24.3)NUP153 (6p22.3) / GCNT2 (6p24.3)SEMA5A (5p15.31) / GCNT2 (6p24.3)
TRAPPC10 (21q22.3) / GCNT2 (6p24.3)BTBD3 20p12.2 / GCNT2 6p24.3FARS2 6p25.1 / GCNT2 6p24.3
GCNT2 6p24.3 / OSM 22q12.2GCNT2 6p24.3 / PDE4B 1p31.3NUP153 6p22.3 / GCNT2 6p24.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(1;6)(p31;p24) GCNT2/PDE4B
t(6;6)(p22;p24) NUP153/GCNT2
t(6;6)(p24;p25) FARS2/GCNT2
t(6;20)(p24;p12) BTBD3/GCNT2
t(6;22)(p24;q12) GCNT2/OSM


External links

Nomenclature
HGNC (Hugo)GCNT2   4204
LRG (Locus Reference Genomic)LRG_819
Cards
Entrez_Gene (NCBI)GCNT2  2651  glucosaminyl (N-acetyl) transferase 2 (I blood group)
AliasesCCAT; CTRCT13; GCNT2C; GCNT5; 
IGNT; II; NACGT1; NAGCT1; ULG3; bA360O19.2; bA421M1.1
GeneCards (Weizmann)GCNT2
Ensembl hg19 (Hinxton)ENSG00000111846 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111846 [Gene_View]  ENSG00000111846 [Sequence]  chr6:10585760-10629368 [Contig_View]  GCNT2 [Vega]
ICGC DataPortalENSG00000111846
TCGA cBioPortalGCNT2
AceView (NCBI)GCNT2
Genatlas (Paris)GCNT2
WikiGenes2651
SOURCE (Princeton)GCNT2
Genetics Home Reference (NIH)GCNT2
Genomic and cartography
GoldenPath hg38 (UCSC)GCNT2  -     chr6:10585760-10629368 +  6p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GCNT2  -     6p24.3   [Description]    (hg19-Feb_2009)
EnsemblGCNT2 - 6p24.3 [CytoView hg19]  GCNT2 - 6p24.3 [CytoView hg38]
Mapping of homologs : NCBIGCNT2 [Mapview hg19]  GCNT2 [Mapview hg38]
OMIM110800   116700   600429   
Gene and transcription
Genbank (Entrez)AB078432 AB078433 AF401652 AF401653 AF458024
RefSeq transcript (Entrez)NM_001491 NM_145649 NM_145655
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GCNT2
Cluster EST : UnigeneHs.519884 [ NCBI ]
CGAP (NCI)Hs.519884
Alternative Splicing GalleryENSG00000111846
Gene ExpressionGCNT2 [ NCBI-GEO ]   GCNT2 [ EBI - ARRAY_EXPRESS ]   GCNT2 [ SEEK ]   GCNT2 [ MEM ]
Gene Expression Viewer (FireBrowse)GCNT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2651
GTEX Portal (Tissue expression)GCNT2
Human Protein AtlasENSG00000111846-GCNT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N0V5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N0V5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N0V5
Splice isoforms : SwissVarQ8N0V5
Catalytic activity : Enzyme2.4.1.150 [ Enzyme-Expasy ]   2.4.1.1502.4.1.150 [ IntEnz-EBI ]   2.4.1.150 [ BRENDA ]   2.4.1.150 [ KEGG ]   
PhosPhoSitePlusQ8N0V5
Domains : Interpro (EBI)Glyco_trans_14   
Domain families : Pfam (Sanger)Branch (PF02485)   
Domain families : Pfam (NCBI)pfam02485   
Conserved Domain (NCBI)GCNT2
DMDM Disease mutations2651
Blocks (Seattle)GCNT2
SuperfamilyQ8N0V5
Human Protein Atlas [tissue]ENSG00000111846-GCNT2 [tissue]
Peptide AtlasQ8N0V5
HPRD02695
IPIIPI00030933   IPI00166086   IPI00645767   IPI00916927   
Protein Interaction databases
DIP (DOE-UCLA)Q8N0V5
IntAct (EBI)Q8N0V5
FunCoupENSG00000111846
BioGRIDGCNT2
STRING (EMBL)GCNT2
ZODIACGCNT2
Ontologies - Pathways
QuickGOQ8N0V5
Ontology : AmiGOGolgi membrane  cellular_component  Golgi apparatus  glycosaminoglycan biosynthetic process  protein glycosylation  protein glycosylation  transforming growth factor beta receptor signaling pathway  multicellular organism development  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity  positive regulation of cell proliferation  posttranscriptional regulation of gene expression  positive regulation of epithelial to mesenchymal transition  negative regulation of cell-substrate adhesion  membrane  integral component of membrane  positive regulation of cell migration  positive regulation of heterotypic cell-cell adhesion  maintenance of lens transparency  positive regulation of protein kinase B signaling  positive regulation of ERK1 and ERK2 cascade  
Ontology : EGO-EBIGolgi membrane  cellular_component  Golgi apparatus  glycosaminoglycan biosynthetic process  protein glycosylation  protein glycosylation  transforming growth factor beta receptor signaling pathway  multicellular organism development  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity  positive regulation of cell proliferation  posttranscriptional regulation of gene expression  positive regulation of epithelial to mesenchymal transition  negative regulation of cell-substrate adhesion  membrane  integral component of membrane  positive regulation of cell migration  positive regulation of heterotypic cell-cell adhesion  maintenance of lens transparency  positive regulation of protein kinase B signaling  positive regulation of ERK1 and ERK2 cascade  
Pathways : KEGGGlycosphingolipid biosynthesis - lacto and neolacto series   
NDEx NetworkGCNT2
Atlas of Cancer Signalling NetworkGCNT2
Wikipedia pathwaysGCNT2
Orthology - Evolution
OrthoDB2651
GeneTree (enSembl)ENSG00000111846
Phylogenetic Trees/Animal Genes : TreeFamGCNT2
HOVERGENQ8N0V5
HOGENOMQ8N0V5
Homologs : HomoloGeneGCNT2
Homology/Alignments : Family Browser (UCSC)GCNT2
Gene fusions - Rearrangements
Fusion : MitelmanBTBD3/GCNT2 [20p12.2/6p24.3]  [t(6;20)(p24;p12)]  
Fusion : MitelmanFARS2/GCNT2 [6p25.1/6p24.3]  [t(6;6)(p24;p25)]  
Fusion : MitelmanGCNT2/OSM [6p24.3/22q12.2]  [t(6;22)(p24;q12)]  
Fusion : MitelmanGCNT2/PDE4B [6p24.3/1p31.3]  [t(1;6)(p31;p24)]  
Fusion : MitelmanNUP153/GCNT2 [6p22.3/6p24.3]  [t(6;6)(p22;p24)]  
Fusion PortalBTBD3 20p12.2 GCNT2 6p24.3 BRCA
Fusion PortalFARS2 6p25.1 GCNT2 6p24.3 LGG
Fusion PortalGCNT2 6p24.3 OSM 22q12.2 LUAD
Fusion PortalGCNT2 6p24.3 PDE4B 1p31.3 BRCA
Fusion PortalNUP153 6p22.3 GCNT2 6p24.3 BRCA
Fusion : QuiverGCNT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGCNT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GCNT2
dbVarGCNT2
ClinVarGCNT2
1000_GenomesGCNT2 
Exome Variant ServerGCNT2
ExAC (Exome Aggregation Consortium)ENSG00000111846
GNOMAD BrowserENSG00000111846
Varsome BrowserGCNT2
Genetic variants : HAPMAP2651
Genomic Variants (DGV)GCNT2 [DGVbeta]
DECIPHERGCNT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGCNT2 
Mutations
ICGC Data PortalGCNT2 
TCGA Data PortalGCNT2 
Broad Tumor PortalGCNT2
OASIS PortalGCNT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGCNT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGCNT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch GCNT2
DgiDB (Drug Gene Interaction Database)GCNT2
DoCM (Curated mutations)GCNT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GCNT2 (select a term)
intoGenGCNT2
Cancer3DGCNT2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM110800    116700    600429   
Orphanet14011   
DisGeNETGCNT2
MedgenGCNT2
Genetic Testing Registry GCNT2
NextProtQ8N0V5 [Medical]
TSGene2651
GENETestsGCNT2
Target ValidationGCNT2
Huge Navigator GCNT2 [HugePedia]
snp3D : Map Gene to Disease2651
BioCentury BCIQGCNT2
ClinGenGCNT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2651
Chemical/Pharm GKB GenePA169
Clinical trialGCNT2
Miscellaneous
canSAR (ICR)GCNT2 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGCNT2
EVEXGCNT2
GoPubMedGCNT2
iHOPGCNT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:24:28 CEST 2018

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