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B4GALNT3 (beta-1,4-N-acetyl-galactosaminyltransferase 3)

Identity

Alias_symbol (synonym)B4GalNac-T3
FLJ16224
FLJ40362
Other alias-
HGNC (Hugo) B4GALNT3
LocusID (NCBI) 283358
Atlas_Id 47694
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 460377 and ends at 561892 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
B4GALNT3 (12p13.33) / CCDC77 (12p13.33)B4GALNT3 (12p13.33) / NFATC1 (18q23)B4GALNT3 (12p13.33) / SLCO4A1 (20q13.33)
B4GALNT3 (12p13.33) / TMTC1 (12p11.22)WNK1 (12p13.33) / B4GALNT3 (12p13.33)B4GALNT3 12p13.33 / CCDC77 12p13.33
B4GALNT3 12p13.33 / SLCO4A1 20q13.33WNK1 12p13.33 / B4GALNT3 12p13.33

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)B4GALNT3   24137
Cards
Entrez_Gene (NCBI)B4GALNT3  283358  beta-1,4-N-acetyl-galactosaminyltransferase 3
Aliases
GeneCards (Weizmann)B4GALNT3
Ensembl hg19 (Hinxton)ENSG00000139044 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139044 [Gene_View]  chr12:460377-561892 [Contig_View]  B4GALNT3 [Vega]
ICGC DataPortalENSG00000139044
TCGA cBioPortalB4GALNT3
AceView (NCBI)B4GALNT3
Genatlas (Paris)B4GALNT3
WikiGenes283358
SOURCE (Princeton)B4GALNT3
Genetics Home Reference (NIH)B4GALNT3
Genomic and cartography
GoldenPath hg38 (UCSC)B4GALNT3  -     chr12:460377-561892 +  12p13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALNT3  -     12p13.33   [Description]    (hg19-Feb_2009)
EnsemblB4GALNT3 - 12p13.33 [CytoView hg19]  B4GALNT3 - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBIB4GALNT3 [Mapview hg19]  B4GALNT3 [Mapview hg38]
OMIM612220   
Gene and transcription
Genbank (Entrez)AB089940 AK093503 AK097681 AK131277 BC156653
RefSeq transcript (Entrez)NM_173593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B4GALNT3
Cluster EST : UnigeneHs.504416 [ NCBI ]
CGAP (NCI)Hs.504416
Alternative Splicing GalleryENSG00000139044
Gene ExpressionB4GALNT3 [ NCBI-GEO ]   B4GALNT3 [ EBI - ARRAY_EXPRESS ]   B4GALNT3 [ SEEK ]   B4GALNT3 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALNT3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283358
GTEX Portal (Tissue expression)B4GALNT3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6L9W6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6L9W6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6L9W6
Splice isoforms : SwissVarQ6L9W6
Catalytic activity : Enzyme2.4.1.244 [ Enzyme-Expasy ]   2.4.1.2442.4.1.244 [ IntEnz-EBI ]   2.4.1.244 [ BRENDA ]   2.4.1.244 [ KEGG ]   
PhosPhoSitePlusQ6L9W6
Domaine pattern : Prosite (Expaxy)PA14 (PS51820)   
Domains : Interpro (EBI)Chond_GalNAc    Nucleotide-diphossugar_trans    PA14_dom   
Domain families : Pfam (Sanger)CHGN (PF05679)    PA14 (PF07691)   
Domain families : Pfam (NCBI)pfam05679    pfam07691   
Domain families : Smart (EMBL)PA14 (SM00758)  
Conserved Domain (NCBI)B4GALNT3
DMDM Disease mutations283358
Blocks (Seattle)B4GALNT3
SuperfamilyQ6L9W6
Human Protein AtlasENSG00000139044
Peptide AtlasQ6L9W6
HPRD12514
IPIIPI00414042   IPI00298718   
Protein Interaction databases
DIP (DOE-UCLA)Q6L9W6
IntAct (EBI)Q6L9W6
FunCoupENSG00000139044
BioGRIDB4GALNT3
STRING (EMBL)B4GALNT3
ZODIACB4GALNT3
Ontologies - Pathways
QuickGOQ6L9W6
Ontology : AmiGOGolgi apparatus  acetylgalactosaminyltransferase activity  integral component of membrane  Golgi cisterna membrane  N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity  intracellular membrane-bounded organelle  
Ontology : EGO-EBIGolgi apparatus  acetylgalactosaminyltransferase activity  integral component of membrane  Golgi cisterna membrane  N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity  intracellular membrane-bounded organelle  
NDEx NetworkB4GALNT3
Atlas of Cancer Signalling NetworkB4GALNT3
Wikipedia pathwaysB4GALNT3
Orthology - Evolution
OrthoDB283358
GeneTree (enSembl)ENSG00000139044
Phylogenetic Trees/Animal Genes : TreeFamB4GALNT3
HOVERGENQ6L9W6
HOGENOMQ6L9W6
Homologs : HomoloGeneB4GALNT3
Homology/Alignments : Family Browser (UCSC)B4GALNT3
Gene fusions - Rearrangements
Fusion : MitelmanB4GALNT3/CCDC77 [12p13.33/12p13.33]  
Fusion : MitelmanB4GALNT3/SLCO4A1 [12p13.33/20q13.33]  [t(12;20)(p13;q13)]  
Fusion : MitelmanWNK1/B4GALNT3 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion: TCGAB4GALNT3 12p13.33 CCDC77 12p13.33 BRCA
Fusion: TCGAB4GALNT3 12p13.33 SLCO4A1 20q13.33 BRCA
Fusion: TCGAWNK1 12p13.33 B4GALNT3 12p13.33 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALNT3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALNT3
dbVarB4GALNT3
ClinVarB4GALNT3
1000_GenomesB4GALNT3 
Exome Variant ServerB4GALNT3
ExAC (Exome Aggregation Consortium)B4GALNT3 (select the gene name)
Genetic variants : HAPMAP283358
Genomic Variants (DGV)B4GALNT3 [DGVbeta]
DECIPHERB4GALNT3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB4GALNT3 
Mutations
ICGC Data PortalB4GALNT3 
TCGA Data PortalB4GALNT3 
Broad Tumor PortalB4GALNT3
OASIS PortalB4GALNT3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB4GALNT3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB4GALNT3
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 B4GALNT3
DgiDB (Drug Gene Interaction Database)B4GALNT3
DoCM (Curated mutations)B4GALNT3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B4GALNT3 (select a term)
intoGenB4GALNT3
Cancer3DB4GALNT3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612220   
Orphanet
MedgenB4GALNT3
Genetic Testing Registry B4GALNT3
NextProtQ6L9W6 [Medical]
TSGene283358
GENETestsB4GALNT3
Target ValidationB4GALNT3
Huge Navigator B4GALNT3 [HugePedia]
snp3D : Map Gene to Disease283358
BioCentury BCIQB4GALNT3
ClinGenB4GALNT3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD283358
Chemical/Pharm GKB GenePA142672564
Clinical trialB4GALNT3
Miscellaneous
canSAR (ICR)B4GALNT3 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB4GALNT3
EVEXB4GALNT3
GoPubMedB4GALNT3
iHOPB4GALNT3
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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