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B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)

Identity

Alias_namesUDP-GalNAc:betaGlcNAc beta-1
Alias_symbol (synonym)MGC39558
Other aliasB3GalNAc-T2
MDDGA11
HGNC (Hugo) B3GALNT2
LocusID (NCBI) 148789
Atlas_Id 54875
Location 1q42.3  [Link to chromosome band 1q42]
Location_base_pair Starts at 235447190 and ends at 235504481 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)
ARID4B (1q42.3) / B3GALNT2 (1q42.3)ATP9A (20q13.2) / B3GALNT2 (1q42.3)ARID4B 1q42.3 / B3GALNT2 1q42.3

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) [ 1 ]
  t(1;1)(q42;q42) ARID4B/B3GALNT2

External links

Nomenclature
HGNC (Hugo)B3GALNT2   28596
Cards
Entrez_Gene (NCBI)B3GALNT2  148789  beta-1,3-N-acetylgalactosaminyltransferase 2
AliasesB3GalNAc-T2; MDDGA11
GeneCards (Weizmann)B3GALNT2
Ensembl hg19 (Hinxton)ENSG00000162885 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162885 [Gene_View]  ENSG00000162885 [Sequence]  chr1:235447190-235504481 [Contig_View]  B3GALNT2 [Vega]
ICGC DataPortalENSG00000162885
TCGA cBioPortalB3GALNT2
AceView (NCBI)B3GALNT2
Genatlas (Paris)B3GALNT2
WikiGenes148789
SOURCE (Princeton)B3GALNT2
Genetics Home Reference (NIH)B3GALNT2
Genomic and cartography
GoldenPath hg38 (UCSC)B3GALNT2  -     chr1:235447190-235504481 -  1q42.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B3GALNT2  -     1q42.3   [Description]    (hg19-Feb_2009)
EnsemblB3GALNT2 - 1q42.3 [CytoView hg19]  B3GALNT2 - 1q42.3 [CytoView hg38]
Mapping of homologs : NCBIB3GALNT2 [Mapview hg19]  B3GALNT2 [Mapview hg38]
OMIM610194   615181   
Gene and transcription
Genbank (Entrez)AB209046 AK091497 AK130297 AK311626 AW513183
RefSeq transcript (Entrez)NM_001277155 NM_152490
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B3GALNT2
Cluster EST : UnigeneHs.498143 [ NCBI ]
CGAP (NCI)Hs.498143
Alternative Splicing GalleryENSG00000162885
Gene ExpressionB3GALNT2 [ NCBI-GEO ]   B3GALNT2 [ EBI - ARRAY_EXPRESS ]   B3GALNT2 [ SEEK ]   B3GALNT2 [ MEM ]
Gene Expression Viewer (FireBrowse)B3GALNT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)148789
GTEX Portal (Tissue expression)B3GALNT2
Human Protein AtlasENSG00000162885-B3GALNT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NCR0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NCR0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NCR0
Splice isoforms : SwissVarQ8NCR0
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusQ8NCR0
Domains : Interpro (EBI)Glyco_trans_31   
Domain families : Pfam (Sanger)Galactosyl_T (PF01762)   
Domain families : Pfam (NCBI)pfam01762   
Conserved Domain (NCBI)B3GALNT2
DMDM Disease mutations148789
Blocks (Seattle)B3GALNT2
SuperfamilyQ8NCR0
Human Protein Atlas [tissue]ENSG00000162885-B3GALNT2 [tissue]
Peptide AtlasQ8NCR0
HPRD16533
IPIIPI00171501   IPI00744286   
Protein Interaction databases
DIP (DOE-UCLA)Q8NCR0
IntAct (EBI)Q8NCR0
FunCoupENSG00000162885
BioGRIDB3GALNT2
STRING (EMBL)B3GALNT2
ZODIACB3GALNT2
Ontologies - Pathways
QuickGOQ8NCR0
Ontology : AmiGOGolgi membrane  endoplasmic reticulum  endoplasmic reticulum membrane  protein glycosylation  protein O-linked glycosylation  protein O-linked glycosylation  acetylglucosaminyltransferase activity  acetylgalactosaminyltransferase activity  acetylgalactosaminyltransferase activity  galactosyltransferase activity  integral component of membrane  
Ontology : EGO-EBIGolgi membrane  endoplasmic reticulum  endoplasmic reticulum membrane  protein glycosylation  protein O-linked glycosylation  protein O-linked glycosylation  acetylglucosaminyltransferase activity  acetylgalactosaminyltransferase activity  acetylgalactosaminyltransferase activity  galactosyltransferase activity  integral component of membrane  
NDEx NetworkB3GALNT2
Atlas of Cancer Signalling NetworkB3GALNT2
Wikipedia pathwaysB3GALNT2
Orthology - Evolution
OrthoDB148789
GeneTree (enSembl)ENSG00000162885
Phylogenetic Trees/Animal Genes : TreeFamB3GALNT2
HOVERGENQ8NCR0
HOGENOMQ8NCR0
Homologs : HomoloGeneB3GALNT2
Homology/Alignments : Family Browser (UCSC)B3GALNT2
Gene fusions - Rearrangements
Fusion : MitelmanARID4B/B3GALNT2 [1q42.3/1q42.3]  [t(1;1)(q42;q42)]  
Fusion PortalARID4B 1q42.3 B3GALNT2 1q42.3 BRCA
Fusion : QuiverB3GALNT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB3GALNT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B3GALNT2
dbVarB3GALNT2
ClinVarB3GALNT2
1000_GenomesB3GALNT2 
Exome Variant ServerB3GALNT2
ExAC (Exome Aggregation Consortium)ENSG00000162885
GNOMAD BrowserENSG00000162885
Genetic variants : HAPMAP148789
Genomic Variants (DGV)B3GALNT2 [DGVbeta]
DECIPHERB3GALNT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB3GALNT2 
Mutations
ICGC Data PortalB3GALNT2 
TCGA Data PortalB3GALNT2 
Broad Tumor PortalB3GALNT2
OASIS PortalB3GALNT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB3GALNT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB3GALNT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch B3GALNT2
DgiDB (Drug Gene Interaction Database)B3GALNT2
DoCM (Curated mutations)B3GALNT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B3GALNT2 (select a term)
intoGenB3GALNT2
Cancer3DB3GALNT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610194    615181   
Orphanet8726    8725   
DisGeNETB3GALNT2
MedgenB3GALNT2
Genetic Testing Registry B3GALNT2
NextProtQ8NCR0 [Medical]
TSGene148789
GENETestsB3GALNT2
Target ValidationB3GALNT2
Huge Navigator B3GALNT2 [HugePedia]
snp3D : Map Gene to Disease148789
BioCentury BCIQB3GALNT2
ClinGenB3GALNT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD148789
Chemical/Pharm GKB GenePA142672567
Clinical trialB3GALNT2
Miscellaneous
canSAR (ICR)B3GALNT2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB3GALNT2
EVEXB3GALNT2
GoPubMedB3GALNT2
iHOPB3GALNT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jun 22 16:15:44 CEST 2018
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