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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
- NCBI Entrez Gene: 26040
- Ensembl: ENSG00000152217
- OMIM®: 611060
- UniProtKB/Swiss-Prot: 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
- HGNC (15573)
- NCBI Entrez Gene (26040)
- Ensembl (ENSG00000152217)
- OMIM® (611060)
- UniProtKB/Swiss-Prot (Q9Y6X0)
- Open Targets Platform(ENSG00000152217)
- Monarch Initiative
- Alliance of Genome Resources
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SETBP1
- 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
Latest Assembly
- chr18:44,680,072-45,068,510
- (GRCh38/hg38)
- Size:
- 388,439 bases
- Orientation:
- Plus strand
Previous Assembly
- chr18:42,260,038-42,648,475
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 388,438 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA24826.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA82444.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for SETBP1 Gene
Post-translational modifications for SETBP1 Gene
Other Protein References for SETBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SETBP1
- Novus Biologicals Antibodies for SETBP1
-
Abcam antibodies for SETBP1
- Invitrogen Antibodies for SETBP1 (AFLGC-SETBP1)
-
Boster Bio Antibodies for SETBP1
-
Custom Antibody ServicesProSci Antibodies for SETBP1
Protein products for research
-
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
Assay products for research
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:
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: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:
-
- Decreased NF-kappaB reporter expression
- no effect
- Increased hepcidin::fluc mRNA expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased IL-8 secretion
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
Animal Models for SETBP1 Gene
- MGI Knock Outs for SETBP1:
-
- Setbp1 Setbp1<tm1b(EUCOMM)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SETBP1 - Starting at $85 >
- * SETBP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SETBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETBP1
-
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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for SETBP1 - Starting at $45 >
- * SETBP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SETBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETBP1
Cell Lines for research
-
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 | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
- Nucleoplasm (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | 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
Transcripts for SETBP1 Gene
mRNA/cDNA for SETBP1 Gene
- 4 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000426838 1785 nts (view in UCSC)
- ENST00000645568 3412 nts (view in UCSC)
- ENST00000649279 9909 nts (view in UCSC)
- ENST00000677068 6280 nts (view in UCSC)
- ENST00000677077 9954 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SETBP1 - Starting at $85 >
- * SETBP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SETBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETBP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for SETBP1 - Starting at $45 >
- * SETBP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SETBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETBP1
Relevant External Links for SETBP1 Gene
- GeneLoc Exon Structure for
- SETBP1
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SETBP1
SOURCE 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(4.6)
- Blood(2.2)
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 for research
-
OriGene qPCR primer pairs for SETBP1
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SETBP1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SETBP1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Setbp1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Setbp1 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SETBP1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SETBP1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SETBP1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SETBP1 30 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13769 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | setbp1 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4565 30 |
|
ManyToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne |
- Species where no ortholog for SETBP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for SETBP1
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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SETBP1 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1012435 | Uncertain Significance: not provided | 44,953,158(+) |
C/T NM_015559.3(SETBP1):c.3818C>T (p.Thr1273Met) |
MISSENSE | |
| 1030514 | Uncertain Significance: Mental retardation, autosomal dominant 29 | 44,950,583(+) |
A/T NM_015559.3(SETBP1):c.1243A>T (p.Asn415Tyr) |
MISSENSE | |
| 1030515 | Uncertain Significance: Schinzel-Giedion syndrome | 44,952,257(+) |
A/T NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) |
MISSENSE | |
| 1030516 | Uncertain Significance: Mental retardation, autosomal dominant 29 | 44,952,419(+) |
G/C NM_015559.3(SETBP1):c.3079G>C (p.Asp1027His) |
MISSENSE | |
| 1030517 | Uncertain Significance: Mental retardation, autosomal dominant 29 | 45,063,675(+) |
A/T NM_015559.3(SETBP1):c.4768A>T (p.Ser1590Cys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETBP1 Gene
Disorders for SETBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schinzel-giedion midface retraction syndrome |
|
|
| mental retardation, autosomal dominant 29 |
|
|
| intellectual disability-expressive aphasia-facial dysmorphism syndrome |
|
|
| fetal akinesia deformation sequence 1 |
|
|
| juvenile myelomonocytic leukemia |
|
|
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 variants 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 variants 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
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
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- Open Targets Platform
- Open Targets Platform
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 22
- Refining analyses of copy number variation identifies specific genes associated with developmental delay. (PMID: 25217958) Coe BP … Eichler EE (Nature genetics 2014) 3 4 72
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (PMID: 20436468) Hoischen A … Veltman JA (Nature genetics 2010) 3 4 72
- Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. (PMID: 28346496) Acuna-Hidalgo R … van Bon BW (PLoS genetics 2017) 3 72
- 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 (American journal of medical genetics. Part A 2015) 3 72
ExternalLinks
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Sources for SETBP1 Gene
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