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SETBP1 Gene

protein-coding   GIFtS: 51
GCID: GC18P042260

SET Binding Protein 1

  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)
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Aliases
SET Binding Protein 11 2
SEB2 3 5
KIAA04373 5
SET-Binding Protein2

External Ids:    HGNC: 155731   Entrez Gene: 260402   Ensembl: ENSG000001522177   OMIM: 6110605   UniProtKB: Q9Y6X03   

Export aliases for SETBP1 gene to outside databases

Previous GC identifers: GC18P042594 GC18P042047 GC18P042148 GC18P040512 GC18P040535 GC18P039118


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SETBP1 Gene:
This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding
region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET
nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with
Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for SETBP1 Gene:
SETBP1 (SET binding protein 1) is a protein-coding gene. Diseases associated with SETBP1 include schinzel giedion syndrome, and myelodysplastic syndromes. An important paralog of this gene is NSD1.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SETBP1 gene promoter:
         MEF-2A   FOXO4   Lmo2   aMEF-2   AP-2gamma   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SETBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SETBP1


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q12.3   HGNC cytogenetic band: 18q21.1

SETBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETBP1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P042260:  view genomic region     (about GC identifiers)

Start:
42,260,138 bp from pter      End:
42,648,475 bp from pter
Size:
388,338 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0 (See protein sequence)
Recommended Name: SET-binding protein  
Size: 1596 amino acids; 175008 Da
Subunit: Interacts with SET
Sequence caution: Sequence=AAI46777.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA24826.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA82444.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6H8W5 Q6P6C3 Q9UEF3
Alternative splicing: 2 isoforms:  Q9Y6X0-1   Q9Y6X0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETBP1: NX_Q9Y6X0

Explore proteomics data for SETBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SETBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123582.1  NP_056374.2  

    ENSEMBL proteins: 
     ENSP00000390687   ENSP00000282030   ENSP00000468506  

    SETBP1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SETBP1

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    LSBio Antibodies in human, mouse, rat for SETBP1

    SETBP1 Assay Products:

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    Cloud-Clone Corp. ELISAs for SETBP1
    Cloud-Clone Corp. CLIAs for SETBP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR017956 AT_hook_DNA-bd_motif

    Graphical View of Domain Structure for InterPro Entry Q9Y6X0

    ProtoNet protein and cluster: Q9Y6X0

    UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0
    Similarity: Contains 3 A.T hook DNA-binding domains


    SETBP1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
         
    SETBP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SETBP1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

         1 MGI phenotypic allele for Setbp1 (no phenotypes)

    SETBP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SETBP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETBP1
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    miRNA
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    Block miRNA regulation of human, mouse, rat SETBP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETBP1 (see all 124):
    hsa-miR-323-3p hsa-miR-520e hsa-miR-607 hsa-miR-4272 hsa-miR-578 hsa-miR-374a hsa-miR-3653 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidSETBP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SETBP1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SETBP1 (NM_015559)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETBP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETBP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SETBP_HUMAN, Q9Y6X0: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    SETBP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SETBP1
    Interactions:

        GeneGlobe Interaction Network for SETBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for SETBP1 (Q9Y6X03 ENSP000002820304) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SETQ011053, ENSP000003617774I2D: score=3 STRING: ENSP00000361777
    ANP32AP396873, ENSP000004178644I2D: score=1 STRING: ENSP00000417864
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    FYCO1Q9BQS83I2D: score=1 
    AASDHENSP000002052144STRING: ENSP00000205214
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SETBP1 (SETBP)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SETBP1 gene (2 alternative transcripts): 
    NM_001130110.1  NM_015559.2  

    Unigene Cluster for SETBP1:

    SET binding protein 1
    Hs.435458  [show with all ESTs]
    Unigene Representative Sequence: NM_015559
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426838(uc002lay.3) ENST00000282030(uc010dni.3) ENST00000591940

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SETBP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETBP1 (see all 124):
    hsa-miR-323-3p hsa-miR-520e hsa-miR-607 hsa-miR-4272 hsa-miR-578 hsa-miR-374a hsa-miR-3653 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidSETBP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SETBP1
    Clone
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    OriGene ORF clones in mouse, rat for SETBP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SETBP1 (NM_015559)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETBP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETBP1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SETBP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SETBP1
      QuantiTect SYBR Green Assays in human, mouse, rat SETBP1
      QuantiFast Probe-based Assays in human, mouse, rat SETBP1

    Additional mRNA sequence: 

    AB007897.2 AB022660.1 AK091663.1 AK123972.1 AL832945.1 BC062338.1 BC146776.1 

    6 DOTS entries:

    DT.442633  DT.409632  DT.95290104  DT.99975482  DT.91965990  DT.95212262 

    Selected AceView cDNA sequences (see all 114):

    CK905858 AW131125 AB022660 BI768199 NM_015559 AA714677 AA970371 AB007897 
    AI190232 AW188167 BQ272271 F12606 BI757415 BX096302 AI356994 BE221729 
    AI590093 AW575903 BM874700 AI824433 AL832945 AI702209 BX281347 CD172259 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SETBP1 expression in normal human tissues (normalized intensities)      SETBP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTTAGATG
    SETBP1 Expression
    About this image


    SETBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
    SETBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SETBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435458

    UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0
    Tissue specificity: Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well
    as in CD34+ cells; expression levels are higher in myeloid malignancies

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETBP1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SETBP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setbp11 , 5 SET binding protein 11, 5 87.23(n)1
    89.44(a)1
      18 (52.67 cM)5
    2404271  NM_053099.21  NP_444329.21 
     787503805 
    chicken
    (Gallus gallus)
    Aves SETBP11 SET binding protein 1 75.84(n)
    77.39(a)
      416376  XM_001233853.3  XP_001233854.3 
    lizard
    (Anolis carolinensis)
    Reptilia SETBP16
    SET binding protein 1
    72(a)
    1 ↔ 1
    1(35628255-35888099)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.137692 Xenopus laevis transcribed sequence with moderate similarity more 84.11(n)    BJ066183.1 
    zebrafish
    (Danio rerio)
    Actinopterygii setbp11 SET binding protein 1 57.28(n)
    51.22(a)
      796785  XM_005165675.1  XP_005165732.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45656
    --
    13(a)
    many ↔ many
    3R(6678446-6679366)


    ENSEMBL Gene Tree for SETBP1 (if available)
    TreeFam Gene Tree for SETBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SETBP1 gene
    NSD12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETDB22  SUV39H12  SETD22  
    EHMT12  EHMT22  SETMAR2  SETDB12  
    1 SIMAP similar gene for SETBP1 using alignment to 2 protein entries:     SETBP_HUMAN (see all proteins):
    ASH1L

    SETBP1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SETBP1 (see all 7248)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0698544
    Leukemia, acute myelogenous (AML)4--see VAR_0698542 G R mis40--------
    VAR_0638084
    Schinzel-Giedion midface retraction syndrome (SGMFS)4--see VAR_0638082 G D mis40--------
    VAR_0698524
    Myelodysplastic syndrome (MDS)4--see VAR_0698522 S N mis40--------
    VAR_0638094
    Schinzel-Giedion midface retraction syndrome (SGMFS)4--see VAR_0638092 G S mis40--------
    VAR_0359874
    A colorectal cancer sample4--see VAR_0359872 R W mis40--------
    VAR_0698494
    Leukemia, chronic myeloid, atypical (ACML)4--see VAR_0698492 E K mis40--------
    VAR_0698574
    Myelodysplastic syndrome (MDS)4--see VAR_0698572 T R mis40--------
    VAR_0638064
    Schinzel-Giedion midface retraction syndrome (SGMFS)4--see VAR_0638062 D A mis40--------
    VAR_0638074
    Schinzel-Giedion midface retraction syndrome (SGMFS)4--see VAR_0638072 D N mis40--------
    VAR_0698484
    Leukemia, acute myelogenous (AML)4--see VAR_0698482 S A mis40--------

    HapMap Linkage Disequilibrium report for SETBP1 (42260138 - 42510138 bp, first 250kb of SETBP1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SETBP1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1005718CNV Deletion20482838
    esv2671518CNV Deletion23128226
    esv272827CNV Insertion20981092
    nsv2274CNV Insertion18451855
    esv1008653CNV Insertion20482838
    nsv909584CNV Loss21882294
    esv22280CNV Loss19812545
    nsv2273CNV Loss18451855
    nsv2272CNV Loss18451855
    nsv833637CNV Gain17160897

    Human Gene Mutation Database (HGMD): SETBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SETBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for SETBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611060   
    OMIM disorders: 269150  
    UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0
  • Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]: A disorder characterized by severe
    mental retardation, distinctive facial features, and multiple congenital malformations including skeletal
    abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence
    of tumors, notably neuroepithelial neoplasia. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Note=SETBP1 somatic mutations are frequently found in myeloid malignancies. They cause gain of function
    associated with myeloid leukemic transformation (PubMed:23832012). Myeloid malignancies are separated into three
    main categories: myeloproliferative neoplasms (MPN) characterized by cellular proliferation of one or more
    hematologic cell lines in the peripheral blood, myelodysplastic syndromes (MDS) and MDS/MPN. The MDS/MPN category
    shows overlapping characteristics of both MDS and MPN and includes chronic myelomonocytic leukemia (CMML),
    juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia (ACML) and unclassified MDS/MPN
    (PubMed:23628959)
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal
    hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired
    morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral
    blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA),
    refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory
    cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML)
    is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of
    patients that often progresses to acute myeloid leukemia (AML). Note=The gene represented in this entry is
    involved in disease pathogenesis
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood
    cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors
    at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other
    tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils,
    eosinophils and monocytes. Note=The gene represented in this entry is involved in disease pathogenesis
  • Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]: A myeloproliferative disorder that shares
    clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia
    chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone
    marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated
    white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss,
    and chronic fatigue. The enlarged liver may contribute to the patient's weight loss. Note=The gene represented in
    this entry is involved in disease pathogenesis
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic
    syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell
    compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes,
    rashes, and hemorrhages. Note=The gene represented in this entry is involved in disease pathogenesis

  • Selected diseases for SETBP1 (see all 23):    About MalaCards
    schinzel giedion syndrome    myelodysplastic syndromes    chronic myeloid leukemia    acute undifferentiated leukemia
    staphyloenterotoxemia    acute myeloid leukemia    hypertrichosis    chronic myelomonocytic leukemia
    chronic granulomatous disease    toxic shock syndrome    mastitis    alopecia
    dermatitis    mental retardation    breast and colorectal cancer    myeloid leukemia
    leukemia    melanoma    colorectal cancer    prostate cancer


    SETBP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SETBP1
    Human Genome Epidemiology (HuGE) Navigator: SETBP1 (4 documents)

    Export disorders for SETBP1 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)
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    PubMed articles for SETBP1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with SETBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. (PubMed id 11231286)1, 2, 3, 9 Minakuchi M.... Adachi Y. (Eur. J. Biochem. 2001)
    2. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. (PubMed id 23628959)1, 2 Meggendorfer M.... Schnittger S. (Leukemia 2013)
    3. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. (PubMed id 23222956)1, 2 Piazza R....Gambacorti-Passerini C. (Nat. Genet. 2013)
    4. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. (PubMed id 23832011)1, 2 Sakaguchi H....Kojima S. (Nat. Genet. 2013)
    5. Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. (PubMed id 23889083)1, 2 Fernandez-Mercado M....Boultwood J. (Br. J. Haematol. 2013)
    6. SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany. (PubMed id 23648668)1, 2 Thol F.... Heuser M. (Leukemia 2013)
    7. Somatic SETBP1 mutations in myeloid malignancies. (PubMed id 23832012)1, 2 Makishima H....Maciejewski J.P. (Nat. Genet. 2013)
    8. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (PubMed id 20436468)1, 2 Hoischen A.... Veltman J.A. (Nat. Genet. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      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)
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    Entrez Gene: 26040 HGNC: 15573 AceView: SETBP1 Ensembl:ENSG00000152217 euGenes: HUgn26040
    ECgene: SETBP1 H-InvDB: SETBP1

    (According to HUGE)
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    HUGE: KIAA0437

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SETBP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SETBP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SETBP1 gene:
    Search GeneIP for patents involving SETBP1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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