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SETD2 (SET domain containing 2)

Identity

Other namesHBP231
HIF-1
HIP-1
HYPB
KMT3A
SET2
p231HBP
HGNC (Hugo) SETD2
LocusID (NCBI) 29072
Location 3p21.31
Location_base_pair Starts at 47057898 and ends at 47205467 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)SETD2   18420
Cards
Entrez_Gene (NCBI)SETD2  29072  SET domain containing 2
GeneCards (Weizmann)SETD2
Ensembl (Hinxton)ENSG00000181555 [Gene_View]  chr3:47057898-47205467 [Contig_View]  SETD2 [Vega]
ICGC DataPortalENSG00000181555
cBioPortalSETD2
AceView (NCBI)SETD2
Genatlas (Paris)SETD2
WikiGenes29072
SOURCE (Princeton)NM_012271 NM_014159
Genomic and cartography
GoldenPath (UCSC)SETD2  -  3p21.31   chr3:47057898-47205467 -  3p21.31   [Description]    (hg19-Feb_2009)
EnsemblSETD2 - 3p21.31 [CytoView]
Mapping of homologs : NCBISETD2 [Mapview]
OMIM612778   
Gene and transcription
Genbank (Entrez)AB051519 AF049103 AF049610 AF161554 AI671342
RefSeq transcript (Entrez)NM_012271 NM_014159
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_032091 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)SETD2
Cluster EST : UnigeneHs.517941 [ NCBI ]
CGAP (NCI)Hs.517941
Alternative Splicing : Fast-db (Paris)GSHG0021675
Alternative Splicing GalleryENSG00000181555
Gene ExpressionSETD2 [ NCBI-GEO ]     SETD2 [ SEEK ]   SETD2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYW2 (Uniprot)
NextProtQ9BYW2  [Medical]
With graphics : InterProQ9BYW2
Splice isoforms : SwissVarQ9BYW2 (Swissvar)
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)AWS (PS51215)    POST_SET (PS50868)    SET (PS50280)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)AWS [organisation]   Post-SET_dom [organisation]   SET_dom [organisation]   SRI [organisation]   WW_dom [organisation]  
Related proteins : CluSTrQ9BYW2
Domain families : Pfam (Sanger)SET (PF00856)    SRI (PF08236)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00856    pfam08236    pfam00397   
Domain families : Smart (EMBL)AWS (SM00570)  PostSET (SM00508)  SET (SM00317)  WW (SM00456)  
DMDM Disease mutations29072
Blocks (Seattle)Q9BYW2
PDB (SRS)2A7O    4FMU    4H12   
PDB (PDBSum)2A7O    4FMU    4H12   
PDB (IMB)2A7O    4FMU    4H12   
PDB (RSDB)2A7O    4FMU    4H12   
Human Protein AtlasENSG00000181555 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9BYW2
HPRD11043
IPIIPI00307733   IPI00796144   IPI00442150   IPI01009244   IPI00916993   IPI00917578   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYW2
IntAct (EBI)Q9BYW2
FunCoupENSG00000181555
BioGRIDSETD2
InParanoidQ9BYW2
Interologous Interaction database Q9BYW2
IntegromeDBSETD2
STRING (EMBL)SETD2
Ontologies - Pathways
Ontology : AmiGOangiogenesis  morphogenesis of a branching structure  neural tube closure  protein binding  nucleus  chromosome  mismatch repair  regulation of transcription, DNA-dependent  transcription elongation from RNA polymerase II promoter  regulation of mRNA export from nucleus  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  forebrain development  nucleosome organization  cell migration involved in vasculogenesis  mesoderm morphogenesis  embryonic cranial skeleton morphogenesis  stem cell development  pericardium development  embryonic placenta morphogenesis  coronary vasculature morphogenesis  histone H3-K36 trimethylation  histone H3-K36 trimethylation  
Ontology : EGO-EBIangiogenesis  morphogenesis of a branching structure  neural tube closure  protein binding  nucleus  chromosome  mismatch repair  regulation of transcription, DNA-dependent  transcription elongation from RNA polymerase II promoter  regulation of mRNA export from nucleus  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  forebrain development  nucleosome organization  cell migration involved in vasculogenesis  mesoderm morphogenesis  embryonic cranial skeleton morphogenesis  stem cell development  pericardium development  embryonic placenta morphogenesis  coronary vasculature morphogenesis  histone H3-K36 trimethylation  histone H3-K36 trimethylation  
Pathways : KEGGLysine degradation   
Protein Interaction DatabaseSETD2
Wikipedia pathwaysSETD2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SETD2
snp3D : Map Gene to Disease29072
SNP (GeneSNP Utah)SETD2
SNP : HGBaseSETD2
Genetic variants : HAPMAPSETD2
Exome VariantSETD2
1000_GenomesSETD2 
ICGC programENSG00000181555 
Cancer Gene: CensusSETD2 
Somatic Mutations in Cancer : COSMICSETD2 
CONAN: Copy Number AnalysisSETD2 
Mutations and Diseases : HGMDSETD2
Genomic VariantsSETD2  SETD2 [DGVbeta]
dbVarSETD2
ClinVarSETD2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM612778   
MedgenSETD2
GENETestsSETD2
Disease Genetic AssociationSETD2
Huge Navigator SETD2 [HugePedia]  SETD2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSETD2
Homology/Alignments : Family Browser (UCSC)SETD2
Phylogenetic Trees/Animal Genes : TreeFamSETD2
Chemical/Protein Interactions : CTD29072
Chemical/Pharm GKB GenePA143485612
Drug Sensitivity SETD2
Clinical trialSETD2
Cancer Resource (Charite)ENSG00000181555
Other databases
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
CoreMineSETD2
iHOPSETD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:18:36 CEST 2014

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