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Aliases for SETBP1 Gene

Aliases for SETBP1 Gene

  • SET Binding Protein 1 2 3 5
  • SEB 3 4
  • KIAA0437 4
  • MRD29 3

External Ids for SETBP1 Gene

Previous GeneCards Identifiers for SETBP1 Gene

  • GC18P042594
  • GC18P042047
  • GC18P042148
  • GC18P040512
  • GC18P040535
  • GC18P042260
  • GC18P039118

Summaries for SETBP1 Gene

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 Midface Retraction Syndrome and Mental Retardation, Autosomal Dominant 29. An important paralog of this gene is EHMT1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETBP1 Gene

Genomics for SETBP1 Gene

Regulatory Elements for SETBP1 Gene

Enhancers for SETBP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SETBP1 on UCSC Golden Path with GeneCards custom track

Promoters for SETBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SETBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SETBP1 Gene

44,680,173 bp from pter
45,068,510 bp from pter
388,338 bases
Plus strand

Genomic View for SETBP1 Gene

Genes around SETBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETBP1 Gene

Proteins for SETBP1 Gene

  • Protein details for SETBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    SET-binding protein
    Protein Accession:
    Secondary Accessions:
    • A6H8W5
    • Q6P6C3
    • Q9UEF3

    Protein attributes for SETBP1 Gene

    1596 amino acids
    Molecular mass:
    175008 Da
    Quaternary structure:
    • Interacts with SET.
    • Sequence=AAI46777.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA24826.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA82444.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SETBP1 Gene


neXtProt entry for SETBP1 Gene

Proteomics data for SETBP1 Gene at MOPED

Post-translational modifications for SETBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SETBP1 Gene

No data available for DME Specific Peptides for SETBP1 Gene

Domains & Families for SETBP1 Gene

Protein Domains for SETBP1 Gene


Suggested Antigen Peptide Sequences for SETBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 3 A.T hook DNA-binding domains.
  • Contains 3 A.T hook DNA-binding domains.
genes like me logo Genes that share domains with SETBP1: view

No data available for Gene Families for SETBP1 Gene

Function for SETBP1 Gene

Gene Ontology (GO) - Molecular Function for SETBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with SETBP1: view
genes like me logo Genes that share phenotypes with SETBP1: view

Human Phenotype Ontology for SETBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SETBP1 Gene

Localization for SETBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETBP1 Gene

Subcellular locations from

Jensen Localization Image for SETBP1 Gene COMPARTMENTS Subcellular localization image for SETBP1 gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for SETBP1 Gene

Pathways & Interactions for SETBP1 Gene

SuperPathways for SETBP1 Gene

No Data Available

SIGNOR curated interactions for SETBP1 Gene


Gene Ontology (GO) - Biological Process for SETBP1 Gene


No data available for Pathways by source for SETBP1 Gene

Drugs & Compounds for SETBP1 Gene

No Compound Related Data Available

Transcripts for SETBP1 Gene

Unigene Clusters for SETBP1 Gene

SET binding protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SETBP1 Gene

No ASD Table

Relevant External Links for SETBP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SETBP1 Gene

mRNA expression in normal human tissues for SETBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SETBP1 Gene

This gene is overexpressed in Cerebrospinal fluid (35.9), Heart (16.0), and Plasma (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SETBP1 Gene

SOURCE GeneReport for Unigene cluster for SETBP1 Gene Hs.435458

mRNA Expression by UniProt/SwissProt for SETBP1 Gene

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.
genes like me logo Genes that share expression patterns with SETBP1: view

Protein tissue co-expression partners for SETBP1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for SETBP1 Gene

Orthologs for SETBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SETBP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SETBP1 35
  • 91.7 (n)
  • 94.04 (a)
  • 94 (a)
(Canis familiaris)
Mammalia SETBP1 35
  • 91.9 (n)
  • 95.14 (a)
  • 91 (a)
(Mus musculus)
Mammalia Setbp1 35
  • 87.23 (n)
  • 89.44 (a)
Setbp1 16
Setbp1 36
  • 90 (a)
(Pan troglodytes)
Mammalia SETBP1 35
  • 99.69 (n)
  • 99.81 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Setbp1 35
  • 87.51 (n)
  • 90.02 (a)
(Monodelphis domestica)
Mammalia SETBP1 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia SETBP1 36
  • 80 (a)
(Gallus gallus)
Aves SETBP1 35
  • 75.84 (n)
  • 77.39 (a)
  • 75 (a)
(Anolis carolinensis)
Reptilia SETBP1 36
  • 72 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13769 35
(Danio rerio)
Actinopterygii setbp1 35
  • 57.28 (n)
  • 51.22 (a)
setbp1 36
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4565 36
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 6 (a)
Species with no ortholog for SETBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SETBP1 Gene

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

Paralogs for SETBP1 Gene

(1) SIMAP similar genes for SETBP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SETBP1: view

Variants for SETBP1 Gene

Sequence variations from dbSNP and Humsavar for SETBP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1064204 - 44,952,728(+) TGCAG(A/C/G)CTTCT reference, missense
rs11082414 - 44,950,031(+) GACCC(A/C/G)TCACT reference, missense
VAR_035987 A colorectal cancer sample
rs3744825 - 44,952,641(+) CCCAC(A/G)TAAAG reference, missense
VAR_063806 Schinzel-Giedion midface retraction syndrome (SGMFS)

Structural Variations from Database of Genomic Variants (DGV) for SETBP1 Gene

Variant ID Type Subtype PubMed ID
nsv909584 CNV Loss 21882294
nsv2272 CNV Loss 18451855
nsv828220 CNV Gain 20364138
esv272827 CNV Insertion 20981092
esv1008653 CNV Insertion 20482838
nsv2273 CNV Loss 18451855
nsv833637 CNV Gain 17160897
esv1005718 CNV Deletion 20482838
nsv2274 CNV Insertion 18451855
nsv909585 CNV Gain 21882294
esv22280 CNV Loss 19812545
esv2671518 CNV Deletion 23128226

Variation tolerance for SETBP1 Gene

Residual Variation Intolerance Score: 9.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.16; 92.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SETBP1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETBP1 Gene

Disorders for SETBP1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SETBP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schinzel-giedion midface retraction syndrome
  • sgmfs
mental retardation, autosomal dominant 29
  • mrd29
intellectual disability-expressive aphasia-facial dysmorphism syndrome
  • intellectual disability-loss of expressive language-facial dysmorphism syndrome
leukemia, chronic myeloid, somatic
  • chronic myeloid leukemia
leukemia, acute myelomonocytic, somatic, somatic
  • leukemia, juvenile myelomonocytic, somatic
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:23648668, ECO:0000269 PubMed:23889083}. 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 patients weight loss. {ECO:0000269 PubMed:23222956}. 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. {ECO:0000269 PubMed:23832011}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Mental retardation, autosomal dominant 29 (MRD29) [MIM:616078]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features. {ECO:0000269 PubMed:25217958}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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). {ECO:0000269 PubMed:23648668, ECO:0000269 PubMed:23889083}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • 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). {ECO:0000269 PubMed:23628959, ECO:0000269 PubMed:23832012}.
  • 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. {ECO:0000269 PubMed:20436468}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SETBP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SETBP1: view

No data available for Genatlas for SETBP1 Gene

Publications for SETBP1 Gene

  1. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. (PMID: 11231286) Minakuchi M. … Adachi Y. (Eur. J. Biochem. 2001) 2 3 4 23 67
  2. SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. (PMID: 25306901) Inoue D. … Kitamura T. (Leukemia 2015) 3
  3. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. (PMID: 25663181) Carvalho E. … Bertola D. (Am. J. Med. Genet. A 2015) 3
  4. Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations. (PMID: 25716545) Adema V. … SolAc F. (Br. J. Haematol. 2015) 3
  5. ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia. (PMID: 25850813) Elliott M.A. … Tefferi A. (Am. J. Hematol. 2015) 3

Products for SETBP1 Gene

Sources for SETBP1 Gene