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

Identity

Alias (NCBI)-
HGNC (Hugo) B4GALNT3
HGNC Alias symbB4GalNac-T3
FLJ16224
FLJ40362
LocusID (NCBI) 283358
Atlas_Id 47694
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 459939 and ends at 563500 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)
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    beta-1,4-N-acetyl-galactosaminyltransferase 3
Aliases
GeneCards (Weizmann)B4GALNT3
Ensembl hg19 (Hinxton)ENSG00000139044 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139044 [Gene_View]  ENSG00000139044 [Sequence]  chr12:459939-563500 [Contig_View]  B4GALNT3 [Vega]
ICGC DataPortalENSG00000139044
TCGA cBioPortalB4GALNT3
AceView (NCBI)B4GALNT3
Genatlas (Paris)B4GALNT3
SOURCE (Princeton)B4GALNT3
Genetics Home Reference (NIH)B4GALNT3
Genomic and cartography
GoldenPath hg38 (UCSC)B4GALNT3  -     chr12:459939-563500 +  12p13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALNT3  -     12p13.33   [Description]    (hg19-Feb_2009)
GoldenPathB4GALNT3 - 12p13.33 [CytoView hg19]  B4GALNT3 - 12p13.33 [CytoView hg38]
ImmunoBaseENSG00000139044
Genome Data Viewer NCBIB4GALNT3 [Mapview hg19]  
OMIM612220   
Gene and transcription
Genbank (Entrez)AB089940 AK093503 AK097681 AK131277 CN400443
RefSeq transcript (Entrez)NM_173593
Consensus coding sequences : CCDS (NCBI)B4GALNT3
Gene ExpressionB4GALNT3 [ NCBI-GEO ]   B4GALNT3 [ EBI - ARRAY_EXPRESS ]   B4GALNT3 [ SEEK ]   B4GALNT3 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALNT3 [ Firebrowse - Broad ]
GenevisibleExpression of B4GALNT3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283358
GTEX Portal (Tissue expression)B4GALNT3
Human Protein AtlasENSG00000139044-B4GALNT3 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusQ6L9W6
Domaine pattern : Prosite (Expaxy)PA14 (PS51820)   
Domains : Interpro (EBI)Chond_GalNAc    Nucleotide-diphossugar_trans    PA14/GLEYA    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
SuperfamilyQ6L9W6
AlphaFold pdb e-kbQ6L9W6   
Human Protein Atlas [tissue]ENSG00000139044-B4GALNT3 [tissue]
HPRD12514
Protein Interaction databases
DIP (DOE-UCLA)Q6L9W6
IntAct (EBI)Q6L9W6
BioGRIDB4GALNT3
STRING (EMBL)B4GALNT3
ZODIACB4GALNT3
Ontologies - Pathways
QuickGOQ6L9W6
Ontology : AmiGOGolgi apparatus  acetylgalactosaminyltransferase activity  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  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
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]  
Fusion : MitelmanWNK1/B4GALNT3 [12p13.33/12p13.33]  
Fusion : QuiverB4GALNT3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALNT3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALNT3
dbVarB4GALNT3
ClinVarB4GALNT3
MonarchB4GALNT3
1000_GenomesB4GALNT3 
Exome Variant ServerB4GALNT3
GNOMAD BrowserENSG00000139044
Varsome BrowserB4GALNT3
ACMGB4GALNT3 variants
VarityQ6L9W6
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]  
Somatic Mutations in Cancer : COSMIC3DB4GALNT3
Mutations and Diseases : HGMDB4GALNT3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaB4GALNT3
DgiDB (Drug Gene Interaction Database)B4GALNT3
DoCM (Curated mutations)B4GALNT3
CIViC (Clinical Interpretations of Variants in Cancer)B4GALNT3
Cancer3DB4GALNT3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612220   
Orphanet
DisGeNETB4GALNT3
MedgenB4GALNT3
Genetic Testing Registry B4GALNT3
NextProtQ6L9W6 [Medical]
GENETestsB4GALNT3
Target ValidationB4GALNT3
Huge Navigator B4GALNT3 [HugePedia]
ClinGenB4GALNT3
Clinical trials, drugs, therapy
MyCancerGenomeB4GALNT3
Protein Interactions : CTDB4GALNT3
Pharm GKB GenePA142672564
PharosQ6L9W6
Clinical trialB4GALNT3
Miscellaneous
canSAR (ICR)B4GALNT3
HarmonizomeB4GALNT3
DataMed IndexB4GALNT3
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXB4GALNT3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:49 CEST 2021

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