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B3GALT6 (UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6)

Identity

Alias_namesUDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
UDP-Gal:betaGal beta 1,3-galactosyltransferase 6
Alias_symbol (synonym)beta3GalT6
Other aliasEDSP2
SEMDJL1
HGNC (Hugo) B3GALT6
LocusID (NCBI) 126792
Atlas_Id 60678
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 1167629 and ends at 1170420 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
B3GALT6 (1p36.33) / B3GALT6 (1p36.33)

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)B3GALT6   17978
Cards
Entrez_Gene (NCBI)B3GALT6  126792  UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
AliasesEDSP2; SEMDJL1; beta3GalT6
GeneCards (Weizmann)B3GALT6
Ensembl hg19 (Hinxton)ENSG00000176022 [Gene_View]  chr1:1167629-1170420 [Contig_View]  B3GALT6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000176022 [Gene_View]  chr1:1167629-1170420 [Contig_View]  B3GALT6 [Vega]
ICGC DataPortalENSG00000176022
TCGA cBioPortalB3GALT6
AceView (NCBI)B3GALT6
Genatlas (Paris)B3GALT6
WikiGenes126792
SOURCE (Princeton)B3GALT6
Genetics Home Reference (NIH)B3GALT6
Genomic and cartography
GoldenPath hg19 (UCSC)B3GALT6  -     chr1:1167629-1170420 +  1p36.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)B3GALT6  -     1p36.33   [Description]    (hg38-Dec_2013)
EnsemblB3GALT6 - 1p36.33 [CytoView hg19]  B3GALT6 - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBIB3GALT6 [Mapview hg19]  B3GALT6 [Mapview hg38]
OMIM271640   615291   615349   
Gene and transcription
Genbank (Entrez)BC015549 BC041621 BC051719 BC160034 BE249959
RefSeq transcript (Entrez)NM_080605
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_030007 NG_033265 NT_032977 NW_004929288
Consensus coding sequences : CCDS (NCBI)B3GALT6
Cluster EST : UnigeneHs.284284 [ NCBI ]
CGAP (NCI)Hs.284284
Alternative Splicing GalleryENSG00000176022
Gene ExpressionB3GALT6 [ NCBI-GEO ]   B3GALT6 [ EBI - ARRAY_EXPRESS ]   B3GALT6 [ SEEK ]   B3GALT6 [ MEM ]
Gene Expression Viewer (FireBrowse)B3GALT6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126792
GTEX Portal (Tissue expression)B3GALT6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96L58   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96L58  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96L58
Splice isoforms : SwissVarQ96L58
Catalytic activity : Enzyme2.4.1.134 [ Enzyme-Expasy ]   2.4.1.1342.4.1.134 [ IntEnz-EBI ]   2.4.1.134 [ BRENDA ]   2.4.1.134 [ KEGG ]   
PhosPhoSitePlusQ96L58
Domains : Interpro (EBI)Glyco_trans_31   
Domain families : Pfam (Sanger)Galactosyl_T (PF01762)   
Domain families : Pfam (NCBI)pfam01762   
Conserved Domain (NCBI)B3GALT6
DMDM Disease mutations126792
Blocks (Seattle)B3GALT6
SuperfamilyQ96L58
Human Protein AtlasENSG00000176022
Peptide AtlasQ96L58
HPRD12509
IPIIPI00064848   
Protein Interaction databases
DIP (DOE-UCLA)Q96L58
IntAct (EBI)Q96L58
FunCoupENSG00000176022
BioGRIDB3GALT6
STRING (EMBL)B3GALT6
ZODIACB3GALT6
Ontologies - Pathways
QuickGOQ96L58
Ontology : AmiGOGolgi membrane  Golgi medial cisterna  carbohydrate metabolic process  glycosaminoglycan biosynthetic process  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  heparan sulfate proteoglycan biosynthetic process  membrane  integral component of membrane  glycosaminoglycan metabolic process  chondroitin sulfate metabolic process  chondroitin sulfate biosynthetic process  Golgi cisterna membrane  UDP-galactosyltransferase activity  small molecule metabolic process  galactosylxylosylprotein 3-beta-galactosyltransferase activity  
Ontology : EGO-EBIGolgi membrane  Golgi medial cisterna  carbohydrate metabolic process  glycosaminoglycan biosynthetic process  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  heparan sulfate proteoglycan biosynthetic process  membrane  integral component of membrane  glycosaminoglycan metabolic process  chondroitin sulfate metabolic process  chondroitin sulfate biosynthetic process  Golgi cisterna membrane  UDP-galactosyltransferase activity  small molecule metabolic process  galactosylxylosylprotein 3-beta-galactosyltransferase activity  
Pathways : KEGGGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate    Glycosaminoglycan biosynthesis - heparan sulfate / heparin   
NDEx NetworkB3GALT6
Atlas of Cancer Signalling NetworkB3GALT6
Wikipedia pathwaysB3GALT6
Orthology - Evolution
OrthoDB126792
GeneTree (enSembl)ENSG00000176022
Phylogenetic Trees/Animal Genes : TreeFamB3GALT6
HOVERGENQ96L58
HOGENOMQ96L58
Homologs : HomoloGeneB3GALT6
Homology/Alignments : Family Browser (UCSC)B3GALT6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB3GALT6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B3GALT6
dbVarB3GALT6
ClinVarB3GALT6
1000_GenomesB3GALT6 
Exome Variant ServerB3GALT6
ExAC (Exome Aggregation Consortium)B3GALT6 (select the gene name)
Genetic variants : HAPMAP126792
Genomic Variants (DGV)B3GALT6 [DGVbeta]
DECIPHER (Syndromes)1:1167629-1170420  ENSG00000176022
CONAN: Copy Number AnalysisB3GALT6 
Mutations
ICGC Data PortalB3GALT6 
TCGA Data PortalB3GALT6 
Broad Tumor PortalB3GALT6
OASIS PortalB3GALT6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB3GALT6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB3GALT6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch B3GALT6
DgiDB (Drug Gene Interaction Database)B3GALT6
DoCM (Curated mutations)B3GALT6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B3GALT6 (select a term)
intoGenB3GALT6
Cancer3DB3GALT6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM271640    615291    615349   
Orphanet11083    12290   
MedgenB3GALT6
Genetic Testing Registry B3GALT6
NextProtQ96L58 [Medical]
TSGene126792
GENETestsB3GALT6
Huge Navigator B3GALT6 [HugePedia]
snp3D : Map Gene to Disease126792
BioCentury BCIQB3GALT6
ClinGenB3GALT6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126792
Chemical/Pharm GKB GenePA25214
Clinical trialB3GALT6
Miscellaneous
canSAR (ICR)B3GALT6 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB3GALT6
EVEXB3GALT6
GoPubMedB3GALT6
iHOPB3GALT6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:34 CET 2017

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