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

SETBP1 Gene

protein-coding   GIFtS: 50
GCID: GC18P042260

SET binding protein 1
 Explore 10 diseases affiliated with
SETBP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SETBP1    

Aliases
for SETBP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SET Binding Protein 11 2
SEB1 2 3 5
KIAA04371 3 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


Summaries
for SETBP1 gene

(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 SETBP1:
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)




Genomic Views
for SETBP1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SETBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SETBP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0 (See protein sequence)
Recommended Name: SET-binding protein  
Size: 1596 amino acids; 175008 Da
Subunit: Interacts with SET
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6X0

    • SETBP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000390687   ENSP00000282030   ENSP00000468506  

    Human Recombinant Protein Products: 
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    Novus Biologicals SETBP1 Protein
    Novus Biologicals SETBP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SETBP1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    SETBP1 for ontologies           About GeneDecksing



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    Uscn Antibodies for SETBP1
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    Assay Products for SETBP1: 
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    Uscn ELISAs and CLIAs for SETBP1

    Protein Domains /
    Families
    for SETBP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SETBP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for SETBP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): SETBP1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETBP1
    8/124 QIAGEN miScript miRNA 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 plasmid: SETBP1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SETBP1 (see all 4)
    OriGene shRNA RFP: SETBP1
    OriGene siRNA: SETBP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETBP1

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETBP1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SETBP1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETBP1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--


    SETBP1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SETBP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SETBP1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for SETBP1 (Q9Y6X03 ENSP000002820304) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SETQ011053, ENSP000003617774I2D: score=3 STRING: ENSP00000361777
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    ANP32AP396873I2D: score=1 
    FYCO1Q9BQS83I2D: score=1 
    About this table

    Drugs & Compounds
    for SETBP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SETBP1
    Search CenterWatch for drugs/clinical trials and news about SETBP1 / SETBP 

    Transcripts
    for SETBP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    8/124 QIAGEN miScript miRNA 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 plasmid: SETBP1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SETBP1 (see all 4)
    OriGene shRNA RFP: SETBP1
    OriGene siRNA: SETBP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETBP1
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SETBP1 (see all 3)
    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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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETBP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETBP1

    Additional cDNA 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 

    24/114 AceView cDNA sequences (see all 114):

    AI356994 CD172259 BX096302 AL832945 AW131125 BE671251 AB007897 BF197593 
    AW301264 BI768199 AA768004 AW188167 BQ272271 AB022660 AI824433 NM_015559 
    AA970371 AW117318 BM874700 BX281347 AA714677 AI702209 BC062338 AW575903 

    GeneLoc Exon Structure


    Expression
    for SETBP1 gene

    (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

    SETBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCTTAGATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SETBP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SETBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETBP1

    SOURCE GeneReport for Unigene cluster: Hs.435458

    UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0
    Tissue specificity: Expressed in numerous tissues

        SABiosciences Custom PCR Arrays for SETBP1
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETBP1

    Orthologs
    for SETBP1 gene

    (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 eukaryotes.

    Orthologs for SETBP1 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SETBP11 SET binding protein 1 76.03(n)
    77.52(a)    		   416376  XM_001233853.2  XP_001233854.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SETBP16
    		 --
    		 72(a)
    		 1 ↔ 1
    		 1(35628255-35714573)
    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 56.23(n)
    49.83(a)    		   796785  XM_001337133.4  XP_001337169.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Lpt6
    		 Lost PHDs of trr
    		 3(a)
    		 1 ↔ 1
    		 2R(19786102-19791187)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATX26
    SDG276
    		 histone-lysine N-methyltransferase ATX1
    		 3(a)
    2(a)
    		 possible ortholog
    possible ortholog
    		 1(1754244-1761817)
    2(13455272-13462181)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 histone-lysine N-methyltransferase ATX5, putative,...
    histone-lysine N-methyltransferase, H3 lysine-4 sp...
    3(a)
    		 1 ↔ 1
    possible ortholog
    		 1(6517127-6520046)
    9(2600650-2614934)


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

    Paralogs
    for SETBP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SETBP1 gene
    ASH1L2  
    1 SIMAP similar gene for SETBP1 using alignment to 2 protein entries:     SETBP_HUMAN (see all proteins):
    ASH1L

    SETBP1 for paralogs           About GeneDecksing



    Genomic Variants
    for SETBP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/6039 NCBI SNPs in SETBP1 are shown (see all 6039)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs118760151,2
    		C,F,H,--39116426(+) AAGGGT/CGAACT 1 -- us2k15Minor allele frequency- C:0.13NA CSA WA 246
    rs118728921,2
    		C,H,--39116625(+) ATGGCC/TTCAGT 1 -- us2k14Minor allele frequency- T:0.07NA CSA WA 212
    rs734851751,2
    		C,F,--39116815(+) CAATGT/AAGACA 1 -- us2k13Minor allele frequency- A:0.09WA 122
    rs118729991,2
    		C,F,A,H,--39116842(+) CATTCG/CTGTTT 1 -- us2k113Minor allele frequency- C:0.09NS EA NA CSA WA 848
    rs118768071,2
    		C,F,H,--39117103(+) TAATTT/AAAAAA 2 -- us2k15Minor allele frequency- A:0.13NA CSA WA 244
    rs734851771,2
    		C,--39117204(+) CCCCCC/GCGACA 2 -- us2k10--------
    rs344365461,2
    		C,--39118847(+) CAGGAT/-TTTTT 2 -- int1 us2k11Minor allele frequency- -:0.50CSA 2
    rs750956241,2
    		C,F,--39119544(+) CCCCCC/GATCCA 2 -- int12Minor allele frequency- G:0.12WA NA 238
    rs786468711,2
    		F,--39120440(+) TTACCA/GTCCCA 2 -- int11Minor allele frequency- G:0.03NA 120
    rs357465691,2
    		C--39122563(+) GAAGGT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for SETBP1 (42260138 - 42510138 bp, first 250kb of SETBP1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SETBP1
         1 CNV: 67348
    Human Gene Mutation Database (HGMD): SETBP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SETBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for SETBP1

    Disorders / Diseases
    for SETBP1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SETBP1 for disorders           About GeneDecksing

    OMIM gene information: 611060   
    OMIM disorders: 269150  
    UniProtKB/Swiss-Prot: SETBP_HUMAN, Q9Y6X0
  • Defects in SETBP1 are the cause of Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]. It is 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

    10 diseases for SETBP1:    About MalaCards
    schinzel giedion syndrome    seborrheic dermatitis    toxic shock syndrome    chronic granulomatous disease
    staphyloenterotoxemia    hypertrichosis    mastitis    dermatitis
    leukemia    malaria

    Human Genome Epidemiology (HuGE) Navigator: SETBP1 (4 documents)

    Export disorders for SETBP1 gene to outside databases

    Publications
    for SETBP1 gene

    (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 SETBP1 gene, integrated from 9 sources (see all 24):
    (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. (2001)
    2. De novo mutations of SETBP1 cause Schinzel-Giedion sy ndrome. (PubMed id 20436468)1, 2 Hoischen A....Veltman J.A. (2010)
    3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    4. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K....Ohara O. (1997)
    5. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. (PubMed id 23222956)1 Piazza R....Gambacorti-Passerini C. (2013)
    6. 372 kb microdeletion in 18q12.3 causing SETBP1 haploin sufficiency associated with mild mental retardation and expressive speech impair ment. (PubMed id 22333924)1 Marseglia G....Torricelli F. (2012)
    7. Six novel susceptibility Loci for early-onset androgen etic alopecia and their unexpected association with common diseases. (PubMed id 22693459)1 Li R....Richards J.B. (2012)
    8. SETBP1 mutations in two Thai patients with Schinzel-G iedion syndrome. (PubMed id 21371013)1 Suphapeetiporn K....Shotelersuk V. (2011)
    9. Reduced expression by SETBP1 haploinsufficiency cause s developmental and expressive language delay indicating a phenotype distinct f rom Schinzel-Giedion syndrome. (PubMed id 21037274)1 Filges I....Yamamoto T. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    External Searches for SETBP1 gene

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    Genome Databases showing SETBP1 gene

    (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

    Other Databases showing SETBP1 gene

    (According to HUGE)
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    HUGE: KIAA0437

    Specialized Databases showing SETBP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for SETBP1 Pharmacogenomics, SNPs, Pathways

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