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POFUT2 (protein O-fucosyltransferase 2)

Identity

Alias_namesC21orf80
chromosome 21 open reading frame 80
Alias_symbol (synonym)KIAA0958
FUT13
Other alias
HGNC (Hugo) POFUT2
LocusID (NCBI) 23275
Atlas_Id 72043
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 46683843 and ends at 46707811 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
POFUT2 (21q22.3) / LRP2 (2q31.1)POFUT2 (21q22.3) / WDR4 (21q22.3)POFUT2 WDR4
POFUT2 LRP2

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)POFUT2   14683
Cards
Entrez_Gene (NCBI)POFUT2  23275  protein O-fucosyltransferase 2
AliasesC21orf80; FUT13
GeneCards (Weizmann)POFUT2
Ensembl hg19 (Hinxton)ENSG00000186866 [Gene_View]  chr21:46683843-46707811 [Contig_View]  POFUT2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000186866 [Gene_View]  chr21:46683843-46707811 [Contig_View]  POFUT2 [Vega]
ICGC DataPortalENSG00000186866
TCGA cBioPortalPOFUT2
AceView (NCBI)POFUT2
Genatlas (Paris)POFUT2
WikiGenes23275
SOURCE (Princeton)POFUT2
Genetics Home Reference (NIH)POFUT2
Genomic and cartography
GoldenPath hg19 (UCSC)POFUT2  -     chr21:46683843-46707811 -  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)POFUT2  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblPOFUT2 - 21q22.3 [CytoView hg19]  POFUT2 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIPOFUT2 [Mapview hg19]  POFUT2 [Mapview hg38]
OMIM610249   
Gene and transcription
Genbank (Entrez)AB023175 AJ302079 AJ302080 AJ575591 AK290732
RefSeq transcript (Entrez)NM_015227 NM_133634 NM_133635
RefSeq genomic (Entrez)NC_000021 NC_018932 NT_011512 NW_004929427
Consensus coding sequences : CCDS (NCBI)POFUT2
Cluster EST : UnigeneHs.592164 [ NCBI ]
CGAP (NCI)Hs.592164
Alternative Splicing GalleryENSG00000186866
Gene ExpressionPOFUT2 [ NCBI-GEO ]   POFUT2 [ EBI - ARRAY_EXPRESS ]   POFUT2 [ SEEK ]   POFUT2 [ MEM ]
Gene Expression Viewer (FireBrowse)POFUT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23275
GTEX Portal (Tissue expression)POFUT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2G5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2G5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2G5
Splice isoforms : SwissVarQ9Y2G5
Catalytic activity : Enzyme2.4.1.221 [ Enzyme-Expasy ]   2.4.1.2212.4.1.221 [ IntEnz-EBI ]   2.4.1.221 [ BRENDA ]   2.4.1.221 [ KEGG ]   
PhosPhoSitePlusQ9Y2G5
Domains : Interpro (EBI)GDP-Fuc_O-FucTrfase   
Domain families : Pfam (Sanger)O-FucT (PF10250)   
Domain families : Pfam (NCBI)pfam10250   
Conserved Domain (NCBI)POFUT2
DMDM Disease mutations23275
Blocks (Seattle)POFUT2
PDB (SRS)4AP5    4AP6   
PDB (PDBSum)4AP5    4AP6   
PDB (IMB)4AP5    4AP6   
PDB (RSDB)4AP5    4AP6   
Structural Biology KnowledgeBase4AP5    4AP6   
SCOP (Structural Classification of Proteins)4AP5    4AP6   
CATH (Classification of proteins structures)4AP5    4AP6   
SuperfamilyQ9Y2G5
Human Protein AtlasENSG00000186866
Peptide AtlasQ9Y2G5
HPRD09846
IPIIPI00032138   IPI00218348   IPI00218349   IPI00797697   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2G5
IntAct (EBI)Q9Y2G5
FunCoupENSG00000186866
BioGRIDPOFUT2
STRING (EMBL)POFUT2
ZODIACPOFUT2
Ontologies - Pathways
QuickGOQ9Y2G5
Ontology : AmiGOmesoderm formation  endoplasmic reticulum membrane  Golgi apparatus  fucose metabolic process  protein O-linked glycosylation  regulation of gene expression  regulation of epithelial to mesenchymal transition  protein O-linked fucosylation  protein O-linked fucosylation  post-translational protein modification  cellular protein metabolic process  peptide-O-fucosyltransferase activity  regulation of secretion  
Ontology : EGO-EBImesoderm formation  endoplasmic reticulum membrane  Golgi apparatus  fucose metabolic process  protein O-linked glycosylation  regulation of gene expression  regulation of epithelial to mesenchymal transition  protein O-linked fucosylation  protein O-linked fucosylation  post-translational protein modification  cellular protein metabolic process  peptide-O-fucosyltransferase activity  regulation of secretion  
Pathways : KEGGOther types of O-glycan biosynthesis   
NDEx NetworkPOFUT2
Atlas of Cancer Signalling NetworkPOFUT2
Wikipedia pathwaysPOFUT2
Orthology - Evolution
OrthoDB23275
GeneTree (enSembl)ENSG00000186866
Phylogenetic Trees/Animal Genes : TreeFamPOFUT2
HOVERGENQ9Y2G5
HOGENOMQ9Y2G5
Homologs : HomoloGenePOFUT2
Homology/Alignments : Family Browser (UCSC)POFUT2
Gene fusions - Rearrangements
Fusion: TCGAPOFUT2 WDR4
Fusion: TCGAPOFUT2 LRP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOFUT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POFUT2
dbVarPOFUT2
ClinVarPOFUT2
1000_GenomesPOFUT2 
Exome Variant ServerPOFUT2
ExAC (Exome Aggregation Consortium)POFUT2 (select the gene name)
Genetic variants : HAPMAP23275
Genomic Variants (DGV)POFUT2 [DGVbeta]
DECIPHER (Syndromes)21:46683843-46707811  ENSG00000186866
CONAN: Copy Number AnalysisPOFUT2 
Mutations
ICGC Data PortalPOFUT2 
TCGA Data PortalPOFUT2 
Broad Tumor PortalPOFUT2
OASIS PortalPOFUT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOFUT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOFUT2
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 POFUT2
DgiDB (Drug Gene Interaction Database)POFUT2
DoCM (Curated mutations)POFUT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POFUT2 (select a term)
intoGenPOFUT2
Cancer3DPOFUT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610249   
Orphanet
MedgenPOFUT2
Genetic Testing Registry POFUT2
NextProtQ9Y2G5 [Medical]
TSGene23275
GENETestsPOFUT2
Huge Navigator POFUT2 [HugePedia]
snp3D : Map Gene to Disease23275
BioCentury BCIQPOFUT2
ClinGenPOFUT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23275
Chemical/Pharm GKB GenePA25867
Clinical trialPOFUT2
Miscellaneous
canSAR (ICR)POFUT2 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOFUT2
EVEXPOFUT2
GoPubMedPOFUT2
iHOPPOFUT2
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 12:39:06 CET 2017

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