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 SETD2.
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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around SETBP1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for SETBP1 Gene
Genes around SETBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q12.3 by Ensembl
- 18q12.3 by Entrez Gene
- 18q12.3 by HGNC
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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SETBP1
- Novus Biologicals Antibodies for SETBP1
-
Abcam antibodies for SETBP1
- Invitrogen Antibodies for SETBP1
- Search GeneTex for Antibodies for SETBP1
Protein Products
-
OriGene Purified Proteins for SETBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for SETBP1
- Origene Custom Protein Services for SETBP1
- antibodies-online: Search results for 4 available SETBP1 Proteins ranked by validation data
- Compare Top SETBP1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for SETBP1
-
Abcam proteins for SETBP1
Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
No data available for 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 hepcidin::fluc mRNA expression
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Decreased IL-8 secretion
- Decreased shRNA abundance
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
Animal Models for SETBP1 Gene
- MGI Knock Outs for SETBP1:
-
- Setbp1 tm1b(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SETBP1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SETBP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SETBP1 gene
- Search ViGene Biosciences for SETBP1
CRISPR Products
-
OriGene CRISPR knockouts for SETBP1
- genomics-online: gRNA clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
- Applied Biological Materials CRISPR for SETBP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETBP1
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for SETBP1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SETBP1
- Browse OriGene Inhibitory RNA Products For SETBP1
- genomics-online: shRNA clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SETBP1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SETBP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SETBP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SETBP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SETBP1
-
ViGene Biosciences adenoviral particle packaged cDNA for SETBP1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SETBP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SETBP1 gene
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 | 5 |
| 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
Selected Interacting proteins:
ENSP00000282030
Q9Y6X0-SETBP_HUMAN
for SETBP1 Gene via
STRING
IID
UniProtKB
Transcripts for SETBP1 Gene
mRNA/cDNA for SETBP1 Gene
- (2) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (114) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SETBP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SETBP1
- genomics-online: gRNA clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
- Applied Biological Materials CRISPR for SETBP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETBP1
- GenScript: Design CRISPR guide RNA sequences for SETBP1
miRNA Products
- Search ViGene Biosciences for SETBP1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SETBP1
- Browse OriGene Inhibitory RNA Products For SETBP1
- genomics-online: shRNA clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SETBP1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SETBP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SETBP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SETBP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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, PaxDb, 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 results for 62 available SETBP1 gene related products
- Overview of 62 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 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SETBP1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SETBP1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Setbp1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Setbp1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SETBP1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SETBP1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SETBP1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SETBP1 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13769 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | setbp1 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4565 34 |
|
ManyToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for SETBP1 Gene
Variants for SETBP1 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1009609185 | uncertain-significance, Schinzel-Giedion syndrome | 45,065,075(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1014009326 | uncertain-significance, Schinzel-Giedion syndrome | 45,063,903(+) | C/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1021752299 | uncertain-significance, Schinzel-Giedion syndrome | 45,067,902(+) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1026085062 | uncertain-significance, Schinzel-Giedion syndrome | 45,067,798(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1032938179 | uncertain-significance, Schinzel-Giedion syndrome | 45,065,036(+) | C/A | 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
(20) MalaCards diseases for SETBP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schinzel-giedion midface retraction syndrome |
|
|
| mental retardation, autosomal dominant 29 |
|
|
| schinzel giedion syndrome |
|
|
| leukemia, chronic myeloid |
|
|
| setbp1 disorder |
|
|
Search SETBP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SETBP_HUMAN- 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.
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 22 58
- Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. (PMID: 23222956) Piazza R … Gambacorti-Passerini C (Nature genetics 2013) 3 4 58
- SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. (PMID: 23628959) Meggendorfer M … Schnittger S (Leukemia 2013) 3 4 58
- SETBP1 mutation analysis in 944 patients with MDS and AML. (PMID: 23648668) Thol F … Heuser M (Leukemia 2013) 3 4 58
- Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. (PMID: 23832011) Sakaguchi H … Kojima S (Nature genetics 2013) 3 4 58
Products for SETBP1 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for SETBP1
- VectorBuilder custom plasmid, inducible vectors for SETBP1
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 28 available SETBP1 Antibodies ranked by validation data
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- Search GeneTex for Antibodies for SETBP1
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- ViGene Biosciences adenoviral particle packaged cDNA for SETBP1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SETBP1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SETBP1 gene
- Search ViGene Biosciences for SETBP1
- Horizon Cell Lines for SETBP1
- genomics-online: cdna clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
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- genomics-online: gRNA clones - Search results for 62 available SETBP1 gene related products
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- genomics-online: primer clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
- genomics-online: shRNA clones - Search results for 62 available SETBP1 gene related products
- Overview of 62 available SETBP1 gene related products
Sources for SETBP1 Gene
- (1) GeneCards
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