Free for academic non-profit institutions. Other users need a Commercial license
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 transcri... See more...
Aliases for SETBP1 Gene
Aliases for SETBP1 Gene
External Ids for SETBP1 Gene
- HGNC: 15573
- Entrez Gene: 26040
- Ensembl: ENSG00000152217
- OMIM: 611060
- UniProtKB: Q9Y6X0
Previous GeneCards Identifiers for SETBP1 Gene
- GC18P042594
- GC18P042047
- GC18P042148
- GC18P040512
- GC18P040535
- GC18P042260
- GC18P039118
Summaries 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. Among its related pathways are PKMTs methylate histone lysines. An important paralog of this gene is ASH1L.
Additional gene information for SETBP1 Gene
- Monarch Initiative
- Search for SETBP1 at DataMed
- Search for SETBP1 at HumanCyc
No data available for UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SETBP1 Gene
Genomics for SETBP1 Gene
GeneHancer (GH) Regulatory Elements for SETBP1 Gene
Promoters and enhancers for SETBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SETBP1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SETBP1 gene promoter:
-
- aMEF-2
- AP-2gamma
- FOXO4
- Lmo2
- MEF-2A
Genomic Locations for SETBP1 Gene
Genomic Locations for SETBP1 Gene
- chr18:44,680,173-45,068,510
- (GRCh38/hg38)
- Size:
- 388,338 bases
- Orientation:
- Plus strand
- chr18:42,260,138-42,648,475
- (GRCh37/hg19)
- Size:
- 388,338 bases
- Orientation:
- Plus strand
Genomic View for SETBP1 Gene
Genes around SETBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q12.3 by HGNC
- 18q12.3 by Entrez Gene
- 18q12.3 by Ensembl
SETBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SETBP1 Gene
Proteins for SETBP1 Gene
-
Protein details for SETBP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6X0-SETBP_HUMAN
- Recommended name:
- SET-binding protein
- Protein Accession:
- Q9Y6X0
- A6H8W5
- Q6P6C3
- Q9UEF3
Protein attributes for SETBP1 Gene
- Size:
- 1596 amino acids
- Molecular mass:
- 175008 Da
- Quaternary structure:
-
- Interacts with SET.
- SequenceCaution:
-
- 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};
Protein Expression for SETBP1 Gene
Post-translational modifications for SETBP1 Gene
Other Protein References for SETBP1 Gene
Antibody Products
- Atlas Antibodies Anti-SETBP1 Antibody (HPA049022) and Anti-SETBP1 Antibody (HPA057259)
- Creative Diagnostics Anti-SETBP1 monoclonal antibody and Anti-SETBP1 (aa 1547-1596) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SETBP1
- Novus Biologicals Antibodies for SETBP1
-
Abcam antibodies for SETBP1
- Invitrogen Antibodies for SETBP1 (AFLGC-SETBP1)
Protein Products
- Creative Biomart Recombinant Human SETBP1 cell lysate and Recombinant Human SETBP1 Protein, MYC/DDK-tagged
-
OriGene Purified Proteins for SETBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for SETBP1
- Origene Custom Protein Services for SETBP1
- antibodies-online: Show 4 available SETBP1 Proteins ranked by validation data
- Compare Top SETBP1 Proteins
-
Quality Products:
-
Abcam proteins for SETBP1
No data available for DME Specific Peptides for SETBP1 Gene
Domains & Families for SETBP1 Gene
Gene Families for SETBP1 Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for SETBP1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SETBP1 Gene
- GenScript: Design optimal peptide antigens:
-
- SET-binding protein (SETBP_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SETBP1 Gene
Function for SETBP1 Gene
Phenotypes From GWAS Catalog for SETBP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for SETBP1 Gene
- MGI mutant phenotypes for SETBP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SETBP1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased shRNA abundance
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased NF-kappaB reporter expression
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Decreased IL-8 secretion
- Increased transferrin (TF) endocytosis
Animal Models for SETBP1 Gene
- MGI Knock Outs for SETBP1:
-
- Setbp1 Setbp1<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for SETBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETBP1
- genomics-online: gRNA clones - Search for available SETBP1 gRNA products
- Overview of 70 available SETBP1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SETBP1 - Select products 50% OFF >
- * SETBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SETBP1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETBP1
miRNA for SETBP1 Gene
- miRTarBase miRNAs that target SETBP1
-
- hsa-mir-432-5p (MIRT439671)
- hsa-mir-218-5p (MIRT439672)
- hsa-mir-6819-5p (MIRT513289)
- hsa-mir-6812-5p (MIRT513290)
- hsa-mir-6737-5p (MIRT513291)
- hsa-mir-4766-3p (MIRT513292)
- hsa-mir-6742-5p (MIRT513293)
- hsa-mir-6769b-5p (MIRT513294)
- hsa-mir-6769a-5p (MIRT513295)
- hsa-mir-92a-2-5p (MIRT513296)
- hsa-mir-654-5p (MIRT513297)
- hsa-mir-541-3p (MIRT513298)
- hsa-mir-6747-5p (MIRT513299)
- hsa-mir-608 (MIRT513300)
- hsa-mir-4664-5p (MIRT513301)
- hsa-mir-4651 (MIRT513302)
- hsa-mir-6875-5p (MIRT513303)
- hsa-mir-342-5p (MIRT513304)
- hsa-mir-3126-5p (MIRT513305)
- hsa-mir-3908 (MIRT513306)
- hsa-mir-4735-5p (MIRT513307)
- hsa-mir-3942-5p (MIRT513308)
- hsa-mir-4703-5p (MIRT513309)
- hsa-mir-6873-5p (MIRT513310)
- hsa-mir-32-3p (MIRT513311)
- hsa-mir-4714-3p (MIRT616771)
- hsa-mir-520f-5p (MIRT653896)
- hsa-mir-4521 (MIRT653897)
- hsa-mir-3065-5p (MIRT653898)
- hsa-mir-4668-3p (MIRT653899)
- hsa-mir-651-3p (MIRT653900)
- hsa-mir-6873-3p (MIRT666448)
- hsa-mir-6817-3p (MIRT666449)
- hsa-mir-7110-3p (MIRT666450)
- hsa-mir-7151-5p (MIRT666451)
- hsa-mir-6833-3p (MIRT714735)
- hsa-mir-4768-5p (MIRT714736)
- hsa-mir-4264 (MIRT714737)
- hsa-mir-4797-3p (MIRT714738)
- hsa-mir-4302 (MIRT714739)
- hsa-mir-6733-3p (MIRT714740)
- hsa-mir-5571-5p (MIRT714741)
- hsa-mir-4282 (MIRT714742)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SETBP1
- Browse OriGene Inhibitory RNA Products For SETBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETBP1
- genomics-online: shRNA clones - Search for available SETBP1 shRNA products
- Overview of 70 available SETBP1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SETBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETBP1
- genomics-online: cdna clones - Search for available SETBP1 CDNA products
- Overview of 70 available SETBP1 gene related products
- orf clones - Search for available SETBP1 ORF products
- Overview of 70 available SETBP1 gene related products
- Applied Biological Materials (abm): Clones for SETBP1 - Select products 50% OFF >
- * SETBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SETBP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for SETBP1
No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SETBP1 Gene
Localization for SETBP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SETBP1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 1 |
- Nuclear bodies (3)
- Nucleus (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0016604 | nuclear body | IDA | -- |
Pathways & Interactions for SETBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | PKMTs methylate histone lysines | ||
Pathways by source for SETBP1 Gene
1 BioSystems pathway for SETBP1 Gene
Interacting Proteins for SETBP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
Drugs & Compounds for SETBP1 Gene
No Compound Related Data Available
Drug Products
- Creative Biomart Recombinant Human SETBP1 cell lysate and Recombinant Human SETBP1 Protein, MYC/DDK-tagged
Transcripts for SETBP1 Gene
mRNA/cDNA for SETBP1 Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (114) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000426838 1785 bps (ENST00000426838.8)
- ENST00000591940 762 bps (ENST00000591940.1)
- ENST00000645568 3412 bps (ENST00000645568.1)
- ENST00000649279 9909 bps (ENST00000649279.1)
CRISPR Products
-
OriGene CRISPR knockouts for SETBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETBP1
- genomics-online: gRNA clones - Search for available SETBP1 gRNA products
- Overview of 70 available SETBP1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SETBP1 - Select products 50% OFF >
- * SETBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SETBP1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETBP1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SETBP1
- Browse OriGene Inhibitory RNA Products For SETBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETBP1
- genomics-online: shRNA clones - Search for available SETBP1 shRNA products
- Overview of 70 available SETBP1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SETBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETBP1
- genomics-online: cdna clones - Search for available SETBP1 CDNA products
- Overview of 70 available SETBP1 gene related products
- orf clones - Search for available SETBP1 ORF products
- Overview of 70 available SETBP1 gene related products
- Applied Biological Materials (abm): Clones for SETBP1 - Select products 50% OFF >
- * SETBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SETBP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for SETBP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Neural Crest (Gastrulation Derivatives)
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 and MOPED for SETBP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SETBP1 Gene:
SETBP1SOURCE GeneReport for Unigene cluster for SETBP1 Gene:
Hs.435458mRNA Expression by UniProt/SwissProt for SETBP1 Gene:
Q9Y6X0-SETBP_HUMAN
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.
Evidence on tissue expression from TISSUES for SETBP1 Gene
- Nervous system(4.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SETBP1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tongue
- tooth
Thorax:
- breast
- chest wall
- clavicle
- heart
- heart valve
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
- liver
Pelvis:
- ovary
- pelvis
- penis
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SETBP1
- genomics-online: primer clones - Search for available SETBP1 Primer products
- Overview of 70 available SETBP1 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SETBP1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SETBP1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SETBP1 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Setbp1 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Setbp1 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SETBP1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SETBP1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SETBP1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SETBP1 33 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13769 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | setbp1 33 32 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG4565 33 |
|
ManyToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
- Species where no ortholog for SETBP1 was found in the sources mined by GeneCards:
-
- 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
- ENSEMBL:
- Gene Tree for SETBP1 (if available)
- TreeFam:
- Gene Tree for SETBP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SETBP1: view image
Paralogs for SETBP1 Gene
Paralogs for SETBP1 Gene
(1) SIMAP similar genes for SETBP1 Gene using alignment to 2 proteins:
- SETBP_HUMAN
- K7ES17_HUMAN
Variants for SETBP1 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519594 | pathogenic, Mental retardation, autosomal dominant 29 | 44,951,357(+) | /T | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
| rs1064204 | benign, not specified, Schinzel-Giedion syndrome, not provided, - | 44,952,728(+) | C/A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs10715988 | benign, Schinzel-Giedion syndrome | 45,068,441(+) | AAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAAA | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs11082414 | benign, not specified, Schinzel-Giedion syndrome, not provided, - | 44,950,031(+) | G/A/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs112813646 | likely-benign, Schinzel-Giedion syndrome | 45,066,582(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1005718 | CNV | deletion | 20482838 |
| esv1008653 | CNV | insertion | 20482838 |
| esv22280 | CNV | loss | 19812545 |
| esv2671518 | CNV | deletion | 23128226 |
| esv3330726 | CNV | insertion | 20981092 |
| esv3583035 | CNV | loss | 25503493 |
| esv3642401 | CNV | loss | 21293372 |
| esv3642402 | CNV | loss | 21293372 |
| nsv1059424 | CNV | gain | 25217958 |
| nsv1072796 | CNV | deletion | 25765185 |
| nsv1132882 | CNV | insertion | 24896259 |
| nsv2272 | CNV | deletion | 18451855 |
| nsv2273 | CNV | deletion | 18451855 |
| nsv2274 | CNV | insertion | 18451855 |
| nsv472338 | CNV | novel sequence insertion | 20440878 |
| nsv474017 | CNV | novel sequence insertion | 20440878 |
| nsv828220 | CNV | gain | 20364138 |
| nsv833637 | CNV | gain | 17160897 |
| nsv960274 | CNV | duplication | 23825009 |
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)
Additional Variant Information for SETBP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETBP1 Gene
Disorders for SETBP1 Gene
(25) MalaCards diseases for SETBP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schinzel-giedion midface retraction syndrome |
|
|
| mental retardation, autosomal dominant 29 |
|
|
| leukemia, chronic myeloid |
|
|
| setbp1 disorder |
|
|
| intellectual disability-expressive aphasia-facial dysmorphism syndrome |
|
|
Search SETBP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SETBP_HUMAN- 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.
- 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}.
- 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.
- 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.
- 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 patient's 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.
Additional Disease Information for SETBP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SETBP1 Gene
Publications for SETBP1 Gene
- Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. (PMID: 11231286) Minakuchi M … Adachi Y (European journal of biochemistry 2001) 2 3 4 23 56
- Refining analyses of copy number variation identifies specific genes associated with developmental delay. (PMID: 25217958) Coe BP … Eichler EE (Nature genetics 2014) 3 4 56
- Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. (PMID: 23832011) Sakaguchi H … Kojima S (Nature genetics 2013) 3 4 56
- Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. (PMID: 23222956) Piazza R … Gambacorti-Passerini C (Nature genetics 2013) 3 4 56
- SETBP1 mutation analysis in 944 patients with MDS and AML. (PMID: 23648668) Thol F … Heuser M (Leukemia 2013) 3 4 56
ExternalLinks
Products for SETBP1 Gene
- Custom Antibody ServicesOriGene Antibodies for SETBP1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SETBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for SETBP1
- Origene Custom Protein Services for SETBP1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SETBP1
- Browse OriGene Inhibitory RNA Products For SETBP1
- OriGene qPCR primer pairs for SETBP1
- OriGene CRISPR knockouts for SETBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SETBP1
- Sino Biological Human cDNA Clone for SETBP1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SETBP1
- Novus Biologicals proteins and lysates for SETBP1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SETBP1
- Abcam proteins for SETBP1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SETBP1 (AFLGC-SETBP1)
- antibodies-online: Show 4 available SETBP1 Antibodies ranked by validation data
- Compare Top SETBP1 Antibodies
- antibodies-online: Search results for available SETBP1 related products ranked by validation data
- antibodies-online: Show 4 available SETBP1 Proteins ranked by validation data
- Compare Top SETBP1 Proteins
- Quality Products:
- Horizon Cell Lines for SETBP1
- genomics-online: cdna clones - Search for available SETBP1 CDNA products
- Overview of 70 available SETBP1 gene related products
- orf clones - Search for available SETBP1 ORF products
- Overview of 70 available SETBP1 gene related products
- genomics-online: gRNA clones - Search for available SETBP1 gRNA products
- Overview of 70 available SETBP1 gene related products
- genomics-online: primer clones - Search for available SETBP1 Primer products
- Overview of 70 available SETBP1 gene related products
- genomics-online: shRNA clones - Search for available SETBP1 shRNA products
- Overview of 70 available SETBP1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETBP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SETBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETBP1
Sources for SETBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource