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

Identity

Alias (NCBI)B3GalNAc-T2
MDDGA11
HGNC (Hugo) B3GALNT2
HGNC Alias symbMGC39558
HGNC Previous nameUDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2
LocusID (NCBI) 148789
Atlas_Id 54875
Location 1q42.3  [Link to chromosome band 1q42]
Location_base_pair Starts at 235447190 and ends at 235504452 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

 



External links

 

Nomenclature
HGNC (Hugo)B3GALNT2   28596
Cards
Entrez_Gene (NCBI)B3GALNT2    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]  chr1:235447190-235504452 [Contig_View]  B3GALNT2 [Vega]
ICGC DataPortalENSG00000162885
TCGA cBioPortalB3GALNT2
AceView (NCBI)B3GALNT2
Genatlas (Paris)B3GALNT2
SOURCE (Princeton)B3GALNT2
Genetics Home Reference (NIH)B3GALNT2
Genomic and cartography
GoldenPath hg38 (UCSC)B3GALNT2  -     chr1:235447190-235504452 -  1q42.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B3GALNT2  -     1q42.3   [Description]    (hg19-Feb_2009)
GoldenPathB3GALNT2 - 1q42.3 [CytoView hg19]  B3GALNT2 - 1q42.3 [CytoView hg38]
ImmunoBaseENSG00000162885
Genome Data Viewer NCBIB3GALNT2 [Mapview hg19]  
OMIM610194   615181   
Gene and transcription
Genbank (Entrez)AB209046 AK091497 AK130297 AK311626 AW513183
RefSeq transcript (Entrez)NM_001277155 NM_152490
Consensus coding sequences : CCDS (NCBI)B3GALNT2
Gene ExpressionB3GALNT2 [ NCBI-GEO ]   B3GALNT2 [ EBI - ARRAY_EXPRESS ]   B3GALNT2 [ SEEK ]   B3GALNT2 [ MEM ]
Gene Expression Viewer (FireBrowse)B3GALNT2 [ Firebrowse - Broad ]
GenevisibleExpression of B3GALNT2 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
PhosPhoSitePlusQ8NCR0
Domains : Interpro (EBI)Glyco_trans_31   
Domain families : Pfam (Sanger)Galactosyl_T (PF01762)   
Domain families : Pfam (NCBI)pfam01762   
Conserved Domain (NCBI)B3GALNT2
SuperfamilyQ8NCR0
AlphaFold pdb e-kbQ8NCR0   
Human Protein Atlas [tissue]ENSG00000162885-B3GALNT2 [tissue]
HPRD16533
Protein Interaction databases
DIP (DOE-UCLA)Q8NCR0
IntAct (EBI)Q8NCR0
BioGRIDB3GALNT2
STRING (EMBL)B3GALNT2
ZODIACB3GALNT2
Ontologies - Pathways
QuickGOQ8NCR0
Ontology : AmiGOGolgi membrane  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  protein glycosylation  protein O-linked glycosylation  protein O-linked glycosylation  acetylgalactosaminyltransferase activity  integral component of membrane  
Ontology : EGO-EBIGolgi membrane  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  protein glycosylation  protein O-linked glycosylation  protein O-linked glycosylation  acetylgalactosaminyltransferase 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
Homologs : HomoloGeneB3GALNT2
Homology/Alignments : Family Browser (UCSC)B3GALNT2
Gene fusions - Rearrangements
Fusion : MitelmanARID4B/B3GALNT2 [1q42.3/1q42.3]  
Fusion : QuiverB3GALNT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB3GALNT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B3GALNT2
dbVarB3GALNT2
ClinVarB3GALNT2
MonarchB3GALNT2
1000_GenomesB3GALNT2 
Exome Variant ServerB3GALNT2
GNOMAD BrowserENSG00000162885
Varsome BrowserB3GALNT2
ACMGB3GALNT2 variants
VarityQ8NCR0
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]  
Somatic Mutations in Cancer : COSMIC3DB3GALNT2
Mutations and Diseases : HGMDB3GALNT2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaB3GALNT2
DgiDB (Drug Gene Interaction Database)B3GALNT2
DoCM (Curated mutations)B3GALNT2
CIViC (Clinical Interpretations of Variants in Cancer)B3GALNT2
Cancer3DB3GALNT2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610194    615181   
Orphanet8726    8725   
DisGeNETB3GALNT2
MedgenB3GALNT2
Genetic Testing Registry B3GALNT2
NextProtQ8NCR0 [Medical]
GENETestsB3GALNT2
Target ValidationB3GALNT2
Huge Navigator B3GALNT2 [HugePedia]
ClinGenB3GALNT2
Clinical trials, drugs, therapy
MyCancerGenomeB3GALNT2
Protein Interactions : CTDB3GALNT2
Pharm GKB GenePA142672567
PharosQ8NCR0
Clinical trialB3GALNT2
Miscellaneous
canSAR (ICR)B3GALNT2
HarmonizomeB3GALNT2
DataMed IndexB3GALNT2
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXB3GALNT2
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 15:00:47 CEST 2021

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