Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)

Identity

Alias_namesUDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
Alias_symbol (synonym)GalNAc-T3
HHS
HFTC
Other aliasHFTC1
HGNC (Hugo) GALNT3
LocusID (NCBI) 2591
Atlas_Id 46353
Location 2q24.3  [Link to chromosome band 2q24]
Location_base_pair Starts at 165747803 and ends at 165794293 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)
GALNT3 (2q24.3) / ABCA7 (19p13.3)

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)GALNT3   4125
Cards
Entrez_Gene (NCBI)GALNT3  2591  polypeptide N-acetylgalactosaminyltransferase 3
AliasesGalNAc-T3; HFTC; HFTC1; HHS
GeneCards (Weizmann)GALNT3
Ensembl hg19 (Hinxton)ENSG00000115339 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115339 [Gene_View]  ENSG00000115339 [Sequence]  chr2:165747803-165794293 [Contig_View]  GALNT3 [Vega]
ICGC DataPortalENSG00000115339
TCGA cBioPortalGALNT3
AceView (NCBI)GALNT3
Genatlas (Paris)GALNT3
WikiGenes2591
SOURCE (Princeton)GALNT3
Genetics Home Reference (NIH)GALNT3
Genomic and cartography
GoldenPath hg38 (UCSC)GALNT3  -     chr2:165747803-165794293 -  2q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GALNT3  -     2q24.3   [Description]    (hg19-Feb_2009)
GoldenPathGALNT3 - 2q24.3 [CytoView hg19]  GALNT3 - 2q24.3 [CytoView hg38]
ImmunoBaseENSG00000115339
Mapping of homologs : NCBIGALNT3 [Mapview hg19]  GALNT3 [Mapview hg38]
OMIM211900   601756   
Gene and transcription
Genbank (Entrez)AJ505954 AK307391 AK313389 BC056246 BC113565
RefSeq transcript (Entrez)NM_004482
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GALNT3
Cluster EST : UnigeneHs.170986 [ NCBI ]
CGAP (NCI)Hs.170986
Alternative Splicing GalleryENSG00000115339
Gene ExpressionGALNT3 [ NCBI-GEO ]   GALNT3 [ EBI - ARRAY_EXPRESS ]   GALNT3 [ SEEK ]   GALNT3 [ MEM ]
Gene Expression Viewer (FireBrowse)GALNT3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2591
GTEX Portal (Tissue expression)GALNT3
Human Protein AtlasENSG00000115339-GALNT3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14435   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14435  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14435
Splice isoforms : SwissVarQ14435
Catalytic activity : Enzyme2.4.1.41 [ Enzyme-Expasy ]   2.4.1.412.4.1.41 [ IntEnz-EBI ]   2.4.1.41 [ BRENDA ]   2.4.1.41 [ KEGG ]   
PhosPhoSitePlusQ14435
Domaine pattern : Prosite (Expaxy)RICIN_B_LECTIN (PS50231)   
Domains : Interpro (EBI)Glyco_trans_2-like    Nucleotide-diphossugar_trans    Ricin_B-like_lectins    Ricin_B_lectin   
Domain families : Pfam (Sanger)Glycos_transf_2 (PF00535)    Ricin_B_lectin (PF00652)   
Domain families : Pfam (NCBI)pfam00535    pfam00652   
Domain families : Smart (EMBL)RICIN (SM00458)  
Conserved Domain (NCBI)GALNT3
DMDM Disease mutations2591
Blocks (Seattle)GALNT3
SuperfamilyQ14435
Human Protein Atlas [tissue]ENSG00000115339-GALNT3 [tissue]
Peptide AtlasQ14435
HPRD03453
IPIIPI00004670   IPI00456483   IPI00916614   IPI00915981   IPI00915831   IPI00953363   IPI00917195   IPI00916473   IPI00916334   
Protein Interaction databases
DIP (DOE-UCLA)Q14435
IntAct (EBI)Q14435
FunCoupENSG00000115339
BioGRIDGALNT3
STRING (EMBL)GALNT3
ZODIACGALNT3
Ontologies - Pathways
QuickGOQ14435
Ontology : AmiGOGolgi membrane  polypeptide N-acetylgalactosaminyltransferase activity  polypeptide N-acetylgalactosaminyltransferase activity  calcium ion binding  Golgi apparatus  Golgi apparatus  Golgi apparatus  carbohydrate metabolic process  fibroblast growth factor receptor signaling pathway  membrane  integral component of membrane  O-glycan processing  protein O-linked glycosylation via serine  protein O-linked glycosylation via threonine  manganese ion binding  carbohydrate binding  Golgi cisterna membrane  perinuclear region of cytoplasm  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  polypeptide N-acetylgalactosaminyltransferase activity  polypeptide N-acetylgalactosaminyltransferase activity  calcium ion binding  Golgi apparatus  Golgi apparatus  Golgi apparatus  carbohydrate metabolic process  fibroblast growth factor receptor signaling pathway  membrane  integral component of membrane  O-glycan processing  protein O-linked glycosylation via serine  protein O-linked glycosylation via threonine  manganese ion binding  carbohydrate binding  Golgi cisterna membrane  perinuclear region of cytoplasm  extracellular exosome  
Pathways : KEGGMucin type O-Glycan biosynthesis   
NDEx NetworkGALNT3
Atlas of Cancer Signalling NetworkGALNT3
Wikipedia pathwaysGALNT3
Orthology - Evolution
OrthoDB2591
GeneTree (enSembl)ENSG00000115339
Phylogenetic Trees/Animal Genes : TreeFamGALNT3
HOGENOMQ14435
Homologs : HomoloGeneGALNT3
Homology/Alignments : Family Browser (UCSC)GALNT3
Gene fusions - Rearrangements
Fusion : QuiverGALNT3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALNT3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALNT3
dbVarGALNT3
ClinVarGALNT3
1000_GenomesGALNT3 
Exome Variant ServerGALNT3
ExAC (Exome Aggregation Consortium)ENSG00000115339
GNOMAD BrowserENSG00000115339
Varsome BrowserGALNT3
Genetic variants : HAPMAP2591
Genomic Variants (DGV)GALNT3 [DGVbeta]
DECIPHERGALNT3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGALNT3 
Mutations
ICGC Data PortalGALNT3 
TCGA Data PortalGALNT3 
Broad Tumor PortalGALNT3
OASIS PortalGALNT3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALNT3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGALNT3
Mutations and Diseases : HGMDGALNT3
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 GALNT3
DgiDB (Drug Gene Interaction Database)GALNT3
DoCM (Curated mutations)GALNT3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALNT3 (select a term)
intoGenGALNT3
Cancer3DGALNT3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM211900    601756   
Orphanet21246   
DisGeNETGALNT3
MedgenGALNT3
Genetic Testing Registry GALNT3
NextProtQ14435 [Medical]
TSGene2591
GENETestsGALNT3
Target ValidationGALNT3
Huge Navigator GALNT3 [HugePedia]
snp3D : Map Gene to Disease2591
BioCentury BCIQGALNT3
ClinGenGALNT3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2591
Chemical/Pharm GKB GenePA28538
Clinical trialGALNT3
Miscellaneous
canSAR (ICR)GALNT3 (select the gene name)
DataMed IndexGALNT3
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALNT3
EVEXGALNT3
GoPubMedGALNT3
iHOPGALNT3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:44:24 CET 2019
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