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B4GALNT2 (beta-1,4-N-acetyl-galactosaminyltransferase 2)

Identity

Alias_namesGALGT2
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1
Alias_symbol (synonym)Sda
Cad
Other aliasB4GALT
HGNC (Hugo) B4GALNT2
LocusID (NCBI) 124872
Atlas_Id 50356
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 49132769 and ends at 49169989 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CWC25 (17q12) / B4GALNT2 (17q21.32)PEMT (17p11.2) / B4GALNT2 (17q21.32)THRA (17q21.1) / B4GALNT2 (17q21.32)
UNK (17q25.1) / B4GALNT2 (17q21.32)CWC25 17q12 / B4GALNT2 17q21.32PEMT 17p11.2 / B4GALNT2 17q21.32
THRA 17q21.1 / B4GALNT2 17q21.32UNK 17q25.1 / B4GALNT2 17q21.32

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

 


External links

Nomenclature
HGNC (Hugo)B4GALNT2   24136
Cards
Entrez_Gene (NCBI)B4GALNT2  124872  beta-1,4-N-acetyl-galactosaminyltransferase 2
AliasesB4GALT; GALGT2
GeneCards (Weizmann)B4GALNT2
Ensembl hg19 (Hinxton)ENSG00000167080 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167080 [Gene_View]  chr17:49132769-49169989 [Contig_View]  B4GALNT2 [Vega]
ICGC DataPortalENSG00000167080
TCGA cBioPortalB4GALNT2
AceView (NCBI)B4GALNT2
Genatlas (Paris)B4GALNT2
WikiGenes124872
SOURCE (Princeton)B4GALNT2
Genetics Home Reference (NIH)B4GALNT2
Genomic and cartography
GoldenPath hg38 (UCSC)B4GALNT2  -     chr17:49132769-49169989 +  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALNT2  -     17q21.32   [Description]    (hg19-Feb_2009)
EnsemblB4GALNT2 - 17q21.32 [CytoView hg19]  B4GALNT2 - 17q21.32 [CytoView hg38]
Mapping of homologs : NCBIB4GALNT2 [Mapview hg19]  B4GALNT2 [Mapview hg38]
OMIM111730   
Gene and transcription
Genbank (Entrez)AF510036 AJ517770 AJ517771 AK302876 BC113675
RefSeq transcript (Entrez)NM_001159387 NM_001159388 NM_153446
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B4GALNT2
Cluster EST : UnigeneHs.374679 [ NCBI ]
CGAP (NCI)Hs.374679
Alternative Splicing GalleryENSG00000167080
Gene ExpressionB4GALNT2 [ NCBI-GEO ]   B4GALNT2 [ EBI - ARRAY_EXPRESS ]   B4GALNT2 [ SEEK ]   B4GALNT2 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALNT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124872
GTEX Portal (Tissue expression)B4GALNT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NHY0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NHY0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NHY0
Splice isoforms : SwissVarQ8NHY0
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusQ8NHY0
Domains : Interpro (EBI)Glyco_trans_2-like    GM2_synthase    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glycos_transf_2 (PF00535)   
Domain families : Pfam (NCBI)pfam00535   
Conserved Domain (NCBI)B4GALNT2
DMDM Disease mutations124872
Blocks (Seattle)B4GALNT2
SuperfamilyQ8NHY0
Human Protein AtlasENSG00000167080
Peptide AtlasQ8NHY0
HPRD13558
IPIIPI00169373   IPI00718973   IPI00929454   
Protein Interaction databases
DIP (DOE-UCLA)Q8NHY0
IntAct (EBI)Q8NHY0
FunCoupENSG00000167080
BioGRIDB4GALNT2
STRING (EMBL)B4GALNT2
ZODIACB4GALNT2
Ontologies - Pathways
QuickGOQ8NHY0
Ontology : AmiGOGolgi membrane  UDP-N-acetylglucosamine metabolic process  acetylgalactosaminyltransferase activity  acetylgalactosaminyltransferase activity  integral component of membrane  protein N-linked glycosylation via asparagine  UDP-N-acetylgalactosamine metabolic process  negative regulation of cell-cell adhesion  integral component of Golgi membrane  lipid glycosylation  
Ontology : EGO-EBIGolgi membrane  UDP-N-acetylglucosamine metabolic process  acetylgalactosaminyltransferase activity  acetylgalactosaminyltransferase activity  integral component of membrane  protein N-linked glycosylation via asparagine  UDP-N-acetylgalactosamine metabolic process  negative regulation of cell-cell adhesion  integral component of Golgi membrane  lipid glycosylation  
NDEx NetworkB4GALNT2
Atlas of Cancer Signalling NetworkB4GALNT2
Wikipedia pathwaysB4GALNT2
Orthology - Evolution
OrthoDB124872
GeneTree (enSembl)ENSG00000167080
Phylogenetic Trees/Animal Genes : TreeFamB4GALNT2
HOVERGENQ8NHY0
HOGENOMQ8NHY0
Homologs : HomoloGeneB4GALNT2
Homology/Alignments : Family Browser (UCSC)B4GALNT2
Gene fusions - Rearrangements
Fusion : MitelmanCWC25/B4GALNT2 [17q12/17q21.32]  [t(17;17)(q12;q21)]  
Fusion : MitelmanPEMT/B4GALNT2 [17p11.2/17q21.32]  [t(17;17)(p11;q21)]  
Fusion : MitelmanTHRA/B4GALNT2 [17q21.1/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanUNK/B4GALNT2 [17q25.1/17q21.32]  [t(17;17)(q21;q25)]  
Fusion: TCGACWC25 17q12 B4GALNT2 17q21.32 LUAD
Fusion: TCGAPEMT 17p11.2 B4GALNT2 17q21.32 BRCA
Fusion: TCGATHRA 17q21.1 B4GALNT2 17q21.32 BRCA
Fusion: TCGAUNK 17q25.1 B4GALNT2 17q21.32 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALNT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALNT2
dbVarB4GALNT2
ClinVarB4GALNT2
1000_GenomesB4GALNT2 
Exome Variant ServerB4GALNT2
ExAC (Exome Aggregation Consortium)B4GALNT2 (select the gene name)
Genetic variants : HAPMAP124872
Genomic Variants (DGV)B4GALNT2 [DGVbeta]
DECIPHERB4GALNT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB4GALNT2 
Mutations
ICGC Data PortalB4GALNT2 
TCGA Data PortalB4GALNT2 
Broad Tumor PortalB4GALNT2
OASIS PortalB4GALNT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB4GALNT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB4GALNT2
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
BioMutasearch B4GALNT2
DgiDB (Drug Gene Interaction Database)B4GALNT2
DoCM (Curated mutations)B4GALNT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B4GALNT2 (select a term)
intoGenB4GALNT2
Cancer3DB4GALNT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM111730   
Orphanet
MedgenB4GALNT2
Genetic Testing Registry B4GALNT2
NextProtQ8NHY0 [Medical]
TSGene124872
GENETestsB4GALNT2
Target ValidationB4GALNT2
Huge Navigator B4GALNT2 [HugePedia]
snp3D : Map Gene to Disease124872
BioCentury BCIQB4GALNT2
ClinGenB4GALNT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124872
Chemical/Pharm GKB GenePA134988070
Clinical trialB4GALNT2
Miscellaneous
canSAR (ICR)B4GALNT2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB4GALNT2
EVEXB4GALNT2
GoPubMedB4GALNT2
iHOPB4GALNT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:25:09 CEST 2017

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