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SETD2 (SET domain containing 2)

Identity

Other namesHBP231
HIF-1
HIP-1
HSPC069
HYPB
KMT3A
LLS
SET2
p231HBP
HGNC (Hugo) SETD2
LocusID (NCBI) 29072
Atlas_Id 51302
Location 3p21.31
Location_base_pair Starts at 47057898 and ends at 47205467 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MANF (3p21.2) / SETD2 (3p21.31)NEK4 (3p21.1) / SETD2 (3p21.31)SETD2 (3p21.31) / CCDC12 (3p21.31)
SETD2 (3p21.31) / F3 (1p21.3)SETD2 (3p21.31) / KIF9 (3p21.31)SETD2 (3p21.31) / NASP (1p34.1)
SETD2 (3p21.31) / PIPOX (17q11.2)SETD2 (3p21.31) / POGLUT1 (3q13.33)SETD2 (3p21.31) / QRICH1 (3p21.31)
SETD2 (3p21.31) / SETD2 (3p21.31)SETD2 (3p21.31) / SMG6 (17p13.3)SETD2 (3p21.31) / ULK4 (3p22.1)
MANF 3p21.2 / SETD2 3p21.31NEK4 3p21.1 / SETD2 3p21.31SETD2 3p21.31 / KIF9 3p21.31
SETD2 3p21.31 / POGLUT1 3q13.33SETD2 3p21.31 / ULK4 3p22.1

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)SETD2   18420
Cards
Entrez_Gene (NCBI)SETD2  29072  SET domain containing 2
GeneCards (Weizmann)SETD2
Ensembl hg19 (Hinxton)ENSG00000181555 [Gene_View]  chr3:47057898-47205467 [Contig_View]  SETD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000181555 [Gene_View]  chr3:47057898-47205467 [Contig_View]  SETD2 [Vega]
ICGC DataPortalENSG00000181555
TCGA cBioPortalSETD2
AceView (NCBI)SETD2
Genatlas (Paris)SETD2
WikiGenes29072
SOURCE (Princeton)SETD2
Genomic and cartography
GoldenPath hg19 (UCSC)SETD2  -     chr3:47057898-47205467 -  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SETD2  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblSETD2 - 3p21.31 [CytoView hg19]  SETD2 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBISETD2 [Mapview hg19]  SETD2 [Mapview hg38]
OMIM612778   
Gene and transcription
Genbank (Entrez)AB051519 AF049103 AF049610 AF161554 AI671342
RefSeq transcript (Entrez)NM_012271 NM_014159
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_032091 NT_022517 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 [ EBI - ARRAY_EXPRESS ]   SETD2 [ SEEK ]   SETD2 [ MEM ]
Gene Expression Viewer (FireBrowse)SETD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)29072
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYW2 (Uniprot)
NextProtQ9BYW2  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ9BYW2
Domaine pattern : Prosite (Expaxy)AWS (PS51215)    POST_SET (PS50868)    SET (PS50280)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)AWS_dom    Post-SET_dom    SET_dom    SRI    WW_dom   
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)SETD2
PDB (SRS)2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
PDB (PDBSum)2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
PDB (IMB)2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
PDB (RSDB)2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
Structural Biology KnowledgeBase2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
SCOP (Structural Classification of Proteins)2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
CATH (Classification of proteins structures)2A7O    2MDC    2MDI    2MDJ    4FMU    4H12   
SuperfamilyQ9BYW2
Human Protein AtlasENSG00000181555
Peptide AtlasQ9BYW2
HPRD11043
IPIIPI00307733   IPI00796144   IPI00442150   IPI01009244   IPI00916993   IPI00917578   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYW2
IntAct (EBI)Q9BYW2
FunCoupENSG00000181555
BioGRIDSETD2
STRING (EMBL)SETD2
ZODIACSETD2
Ontologies - Pathways
QuickGOQ9BYW2
Ontology : AmiGOangiogenesis  morphogenesis of a branching structure  neural tube closure  protein binding  nucleoplasm  chromosome  mismatch repair  regulation of transcription, DNA-templated  transcription elongation from RNA polymerase II promoter  regulation of mRNA export from nucleus  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  forebrain development  nucleosome organization  cell migration involved in vasculogenesis  histone methyltransferase activity (H3-K36 specific)  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  histone H3-K36 dimethylation  
Ontology : EGO-EBIangiogenesis  morphogenesis of a branching structure  neural tube closure  protein binding  nucleoplasm  chromosome  mismatch repair  regulation of transcription, DNA-templated  transcription elongation from RNA polymerase II promoter  regulation of mRNA export from nucleus  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  forebrain development  nucleosome organization  cell migration involved in vasculogenesis  histone methyltransferase activity (H3-K36 specific)  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  histone H3-K36 dimethylation  
Pathways : KEGGLysine degradation   
NDEx Network
Atlas of Cancer Signalling NetworkSETD2
Wikipedia pathwaysSETD2
Orthology - Evolution
OrthoDB29072
GeneTree (enSembl)ENSG00000181555
Phylogenetic Trees/Animal Genes : TreeFamSETD2
Homologs : HomoloGeneSETD2
Homology/Alignments : Family Browser (UCSC)SETD2
Gene fusions - Rearrangements
Fusion: TCGAMANF 3p21.2 SETD2 3p21.31 BRCA
Fusion: TCGANEK4 3p21.1 SETD2 3p21.31 BLCA
Fusion: TCGASETD2 3p21.31 KIF9 3p21.31 LUAD
Fusion: TCGASETD2 3p21.31 POGLUT1 3q13.33 LUAD
Fusion: TCGASETD2 3p21.31 ULK4 3p22.1 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSETD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SETD2
dbVarSETD2
ClinVarSETD2
1000_GenomesSETD2 
Exome Variant ServerSETD2
ExAC (Exome Aggregation Consortium)SETD2 (select the gene name)
SNP (GeneSNP Utah)SETD2
SNP : HGBaseSETD2
Genetic variants : HAPMAPSETD2
Genomic Variants (DGV)SETD2 [DGVbeta]
Mutations
ICGC Data PortalSETD2 
TCGA Data PortalSETD2 
Broad Tumor PortalSETD2
OASIS PortalSETD2 [ Somatic mutations - Copy number]
Cancer Gene: CensusSETD2 
Somatic Mutations in Cancer : COSMICSETD2 
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 SETD2
DgiDB (Drug Gene Interaction Database)SETD2
DoCM (Curated mutations)SETD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SETD2 (select a term)
intoGenSETD2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:47057898-47205467
CONAN: Copy Number AnalysisSETD2 
Mutations and Diseases : HGMDSETD2
OMIM612778   
MedgenSETD2
Genetic Testing Registry SETD2
NextProtQ9BYW2 [Medical]
TSGene29072
GENETestsSETD2
Huge Navigator SETD2 [HugePedia]  SETD2 [HugeCancerGEM]
snp3D : Map Gene to Disease29072
BioCentury BCIQSETD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29072
Chemical/Pharm GKB GenePA143485612
Drug Sensitivity SETD2
Clinical trialSETD2
Miscellaneous
canSAR (ICR)SETD2 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSETD2
GoPubMedSETD2
iHOPSETD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Apr 16 18:03:48 CEST 2016

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