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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SETD2 Gene

protein-coding   GIFtS: 66
GCID: GC03M047033

SET Domain Containing 2

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SET Domain Containing 21 2     EC 2.1.1.433 8
HYPB2 3 5     HBP2312 5
SET22 3 5     KIAA17323 5
Huntingtin Yeast Partner B2 3     Histone-Lysine N-Methyltransferase SETD22
Huntingtin-Interacting Protein B2 3     Huntingtin Interacting Protein 12
Lysine N-Methyltransferase 3A2 3     HIF13
HIF-12 3     hSET23
HIP-12 3     Huntingtin-Interacting Protein 13
KMT3A2 3     SET Domain-Containing Protein 23
p231HBP2 3     

External Ids:    HGNC: 184201   Entrez Gene: 290722   Ensembl: ENSG000001815557   OMIM: 6127785   UniProtKB: Q9BYW23   

Export aliases for SETD2 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SETD2 Gene:
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an
expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class
of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that
is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin.
This protein also contains a novel transcriptional activation domain and has been found associated with
hyperphosphorylated RNA polymerase II. (provided by RefSeq, Aug 2008)

GeneCards Summary for SETD2 Gene: 
SETD2 (SET domain containing 2) is a protein-coding gene. Diseases associated with SETD2 include retinal ischemia, and coronary artery anomaly. GO annotations related to this gene include oxidoreductase activity and transition metal ion binding. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2
Function: Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a
specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation
during elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a
transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of
infection, possibly leading to regulate its expression

Gene Wiki entry for SETD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SETD2 gene promoter:
         Sp1   NRSF form 1   AP-4   NRSF form 2   SREBP-1b   SREBP-1a   FOXO4   ARP-1   Sox9   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSETD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SETD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

SETD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETD2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M047033:  view genomic region     (about GC identifiers)

Start:
47,057,898 bp from pter      End:
47,205,467 bp from pter
Size:
147,570 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase SETD2  
Size: 2564 amino acids; 287597 Da
Subunit: Specifically interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large
subunit (POLR2A). Binds specifically to CTD heptad repeats doubly phosphorylated on 'Ser-2' and 'Ser-5' of each
heptad. Interacts with HTT
Subcellular location: Nucleus (Probable). Chromosome (Probable)
Sequence caution: Sequence=AAF29041.1; Type=Frameshift; Positions=Several; Sequence=AAH72440.1; Type=Erroneous
termination; Positions=463; Note=Translated as Glu; Sequence=AAI17163.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAI17165.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAT77612.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAT77613.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15367.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15367.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAC87131.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAC28349.1; Type=Erroneous termination;
Positions=385; Note=Translated as Arg; Sequence=CAD38601.2; Type=Erroneous initiation; Note=Translation
N-terminally extended;
3 PDB 3D structures from and Proteopedia for SETD2:
2A7O (3D)        4FMU (3D)        4H12 (3D)    
Secondary accessions: O75397 O75405 Q17RW8 Q5BKS9 Q5QGN2 Q69YI5 Q6IN64 Q6ZN53 Q6ZS25 Q8N3R0
Q8TCN0 Q9C0D1 Q9H696 Q9NZW9
Alternative splicing: 3 isoforms:  Q9BYW2-1   Q9BYW2-2   Q9BYW2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETD2: NX_Q9BYW2

Explore proteomics data for SETD2 at MOPED 

Post-translational modifications:

  • UniProtKB: May be automethylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYW2

  • 2 DME Specific Peptides for SETD2 (Q9BYW2)
     RFMNHSC  NHSCEPN 

    SETD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SETD2 Protein Expression
    REFSEQ proteins: NP_054878.5  
    ENSEMBL proteins: 
     ENSP00000388349   ENSP00000332415   ENSP00000411901   ENSP00000386759   ENSP00000416401  

    Human Recombinant Protein Products for SETD2: 
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    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SETD2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005694chromosome IEA--

    SETD2 for ontologies           About GeneDecksing



    SETD2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SETD2 

    Assay Products for SETD2: 
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    Cloud-Clone Corp. ELISAs for SETD2 
    Cloud-Clone Corp. CLIAs for SETD2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases

    5/6 InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR003616 Post-SET_dom
     IPR013257 SRI
     IPR001202 WW_dom
     IPR009078 Ferritin-like_SF

    Graphical View of Domain Structure for InterPro Entry Q9BYW2

    ProtoNet protein and cluster: Q9BYW2

    1 Blocks protein domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2
    Domain: The low charge region mediates the transcriptional activation activity
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. SET2 subfamily
    Similarity: Contains 1 AWS domain
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 SET domain
    Similarity: Contains 1 WW domain


    SETD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SETD2_HUMAN, Q9BYW2
    Function: Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a
    specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation
    during elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a
    transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of
    infection, possibly leading to regulate its expression
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI19141475
    GO:0016491oxidoreductase activity ----
    GO:0018024histone-lysine N-methyltransferase activity IMP--
    GO:0046914transition metal ion binding ----
         
    SETD2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SETD2:
     G0/1 arrest  Increased G1 DNA content  Increased cell size 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Setd2):
     cardiovascular system  craniofacial  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system 

    SETD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Setd2tm1Zhch for SETD2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SETD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SETD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SETD2 

    miRNA
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    hsa-miR-142-5p hsa-miR-548j hsa-miR-548i hsa-miR-520d-5p hsa-miR-374a hsa-miR-374c hsa-miR-7-1* hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidSETD2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SETD2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for SETD2):
        Lysine degradation


    SETD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SETD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/25 Interacting proteins for SETD2 (Q9BYW21, 2, 3 ENSP000003867594) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001570vasculogenesis ----
    GO:0001763morphogenesis of a branching structure IEA--
    GO:0001843neural tube closure IEA--
    GO:0006298mismatch repair IMP--

    SETD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SETD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SETD2

    3 HMDB Compounds for SETD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    10/95 Novoseek inferred chemical compound relationships for SETD2 gene (see all 95)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 87.7 443 12070140 (7), 18305118 (5), 16491827 (5), 19959878 (5) (see all 99)
    cobalt chloride 81.8 17 19374849 (1), 19428442 (1), 10085152 (1), 16490744 (1) (see all 13)
    oxygen 79.5 361 16144688 (4), 19007879 (4), 12678687 (3), 17942596 (3) (see all 99)
    cocl2 72.2 11 9804609 (3), 17268062 (1), 18639543 (1), 16309584 (1) (see all 8)
    deferoxamine 70.2 30 9115299 (3), 9804609 (3), 18061585 (2), 12015365 (2) (see all 15)
    pimonidazole 65.9 2 19459851 (1), 17289019 (1)
    echinomycin 64.5 8 17916190 (4), 16772336 (1), 19671732 (1), 19996311 (1)
    ly294002 60.6 16 15631803 (2), 10749120 (1), 11457733 (1), 17576198 (1) (see all 9)
    alpha-ketoglutarate 59.5 10 16223732 (1), 16847457 (1), 18252725 (1), 16883594 (1) (see all 9)
    deguelin 59.4 2 18208562 (1)

    Search CenterWatch for drugs/clinical trials and news about SETD2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SETD2 gene (2 alternative transcripts): 
    NM_014159.6  NM_012271.1  

    Unigene Cluster for SETD2:

    SET domain containing 2
    Hs.517941  [show with all ESTs]
    Unigene Representative Sequence: NM_014159
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431180(uc003cqr.3 uc003cqt.1) ENST00000330022 ENST00000445387
    ENST00000409792(uc003cqs.3 uc003cqv.3) ENST00000479832 ENST00000492397
    ENST00000484689 ENST00000412450
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate SETD2 (see all 29):
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    Additional mRNA sequence: 

    AB051519.2 AF049103.1 AF049610.1 AF161554.1 AJ238403.1 AK026125.1 AK026837.1 AK091413.1 
    AK095494.1 AK127782.1 AK128096.1 AK131371.1 AL713692.1 AL833394.1 AY576987.1 BC072440.1 
    BC090954.1 BC117162.1 BC117164.1 BX649110.1 

    11 DOTS entries:

    DT.447505  DT.100823976  DT.97763312  DT.100823973  DT.120912104  DT.92442690  DT.311074  DT.91792863 
    DT.102832745  DT.95112638  DT.99969069 

    24/356 AceView cDNA sequences (see all 356):

    AA324058 CB216995 CA776223 BQ953650 BF508723 CB163957 BM783589 AL833394 
    BQ787154 AI868890 BI061929 AK131371 AA830193 CD673249 BG392421 BE336938 
    AB051519 AA705510 AA889864 AL699274 AW273386 BU540410 NM_014159 BQ953177 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SETD2 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^
    SP1:                    -                                   -                                                           -     -     -                           
    SP2:                                      -                 -                                                           -     -     -           -               
    SP3:                    -                                   -                                                           -     -     -           -               
    SP4:                                                                                                                    -     -     -           -               
    SP5:                                                                                                                    -     -                 -               

    ExUns: 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:  -     -                                             
    SP5:                                                      


    ECgene alternative splicing isoforms for SETD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SETD2 expression in normal human tissues (normalized intensities)      SETD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATATTCC
    SETD2 Expression
    About this image


    SETD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Uterus
             cervix, uterine ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See SETD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETD2

    SOURCE GeneReport for Unigene cluster: Hs.517941

    UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Array including SETD2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SETD2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setd21 , 5 SET domain containing 21, 5 87.24(n)1
    86.25(a)1
      9 (60.00 cM)5
    2356261  NM_001081340.21  NP_001074809.21 
     1105325975 
    chicken
    (Gallus gallus)
    Aves SETD21 SET domain containing 2 68.26(n)
    68.1(a)
      420404  XM_418510.3  XP_418510.3 
    lizard
    (Anolis carolinensis)
    Reptilia SETD26
    Uncharacterized protein
    60(a)
    1 ↔ 1
    GL343918.1(47324-113132)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.261092 Xenopus laevis transcribed sequence with weak similarity more 73.12(n)    CD326773.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb97h092 Transcribed sequence with weak similarity to protein more 77.69(n)    57076336 
    fruit fly
    (Drosophila melanogaster)
    Insecta Set26
    CG45656
    --
    20(a)
    18(a)
    1 ↔ 1
    possible ortholog
    X(13307275-13315057)
    3R(6678446-6679366)
    worm
    (Caenorhabditis elegans)
    Secernentea set-236
    met-16
    (see all 3)
    Protein MET-1, isoform a
    (see all 3)
    23(a)
    19(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    IV(1602985-1605561)
    I(4254380-4264683)


    ENSEMBL Gene Tree for SETD2 (if available)
    TreeFam Gene Tree for SETD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SETD2 gene
    NSD12  EZH12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETBP12  SUV39H12  
    EHMT12  EHMT22  EZH22  
    2 SIMAP similar genes for SETD2 using alignment to 5 protein entries:     SETD2_HUMAN (see all proteins):
    DKFZp686C08112    FP13812

    SETD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2634 SNPs in SETD2 are shown (see all 2634)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121076421,2
    C,A--46988372(+) CCCCCA/CAAAAA 1 -- ds50016Minor allele frequency- C:0.33NA WA 130
    rs750314831,2
    F--46988478(+) ATTTGC/ACTTTC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1908032601,2
    --46988545(+) CTGCTG/TCTTTT 1 -- ds50010--------
    rs1834429341,2
    --46988869(+) AATTGC/GATAAA 1 -- ut310--------
    rs117082571,2
    C,F,A,H--46988952(+) GCTTTG/AGAATA 1 -- ut31 ese324Minor allele frequency- A:0.07NS EA NA WA CSA 2058
    rs1886211971,2
    --46988998(+) TTAAAC/TTGTCC 1 -- ut310--------
    rs1928107911,2
    --46989290(+) ACAACC/TAGGTA 1 -- ut310--------
    rs1999733301,2
    --46989585(+) CTCCAA/GGTCCT 2 L syn10--------
    rs1123086021,2
    F--46989692(+) AATTAC/TATGAG 1 -- int11Minor allele frequency- T:0.50CSA 4
    rs1484998351,2
    C,F--46990056(+) GTTGTG/AGTAAT 2 /T syn12Minor allele frequency- A:0.00NA EU 5873

    HapMap Linkage Disequilibrium report for SETD2 (47057898 - 47205467 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SETD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2725239CNV Deletion23290073
    nsv3801CNV Loss18451855
    nsv876755CNV Loss21882294
    nsv428417CNV Loss18775914
    nsv876757CNV Loss21882294
    nsv876756CNV Gain21882294


    Human Gene Mutation Database (HGMD): SETD2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612778    OMIM disorders: --

    20/83 diseases for SETD2 (see all 83):    About MalaCards
    retinal ischemia    coronary artery anomaly    endolymphatic sac tumor    huntington's disease
    cerebral artery occlusion    ankylosis    cellulitis    ischemia
    renal clear cell carcinoma    anoxia    von hippel-lindau disease    glioblastoma
    hypoxia    choroiditis    proliferative diabetic retinopathy    headache
    fibrosarcoma    malignant glioma    acute myocardial infarction    cervical cancer


    SETD2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 Novoseek inferred disease relationships for SETD2 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    solid tumor 70.3 27 19098000 (2), 12914934 (1), 15127725 (1), 19479945 (1) (see all 22)
    tumors 69.5 485 16098463 (7), 17280792 (5), 15141023 (5), 11868612 (4) (see all 99)
    cancer 66 247 16899626 (4), 15135470 (3), 15901372 (3), 19946328 (3) (see all 99)
    renal clear cell carcinoma 55.1 4 16515534 (1), 15220362 (1), 16510593 (1), 17551816 (1)
    neovascularization 53 11 19075673 (3), 20065104 (1), 10605934 (1), 18834862 (1) (see all 9)
    retinal ischemia 47.5 2 15728570 (1), 11328942 (1)
    metastasis 45.2 45 18635960 (2), 17933687 (2), 15930314 (1), 16861921 (1) (see all 42)
    oxygen deficiency 44.2 2 16596228 (1), 19671044 (1)
    retinal neovascularization 44.2 1 20008515 (1), 18704312 (1)
    carcinoma renal cell 41.5 10 17482131 (2), 17989922 (1), 20185296 (1), 16778202 (1) (see all 9)

    Genetic Association Database (GAD): SETD2
    Human Genome Epidemiology (HuGE) Navigator: SETD2 (1 document)

    Export disorders for SETD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SETD2 gene, integrated from 9 sources (see all 937):
    (articles sorted by number of sources associating them with SETD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel human histone H3 lysine 36 specific methyltransferase. (PubMed id 16118227)1, 2, 3 Sun X.-J.... Chen Z. (2005)
    2. Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor. (PubMed id 11461154)1, 2, 3 Rega S....Putzer B.M. (2001)
    3. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (2009)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1. (PubMed id 16314571)1, 2 Li M.... Zhou P. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. (PubMed id 10958656)1, 2 Passani L.A.... MacDonald M.E. (2000)
    9. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (2000)
    10. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29072 HGNC: 18420 AceView: HYPB Ensembl:ENSG00000181555 euGenes: HUgn29072
    ECgene: SETD2 Kegg: 29072 H-InvDB: SETD2

    (According to HUGE)
    About This Section
    HUGE: KIAA1732

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SETD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SETD2 gene:
    Search GeneIP for patents involving SETD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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