The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the n... See more...

Aliases for SET Gene

Aliases for SET Gene

  • SET Nuclear Proto-Oncogene 2 3 5
  • Inhibitor Of Granzyme A-Activated DNase 2 3 4
  • HLA-DR-Associated Protein II 2 3 4
  • PHAPII 2 3 4
  • IGAAD 2 3 4
  • TAF-I 2 3 4
  • SET Translocation (Myeloid Leukemia-Associated) 2 3
  • Protein Phosphatase Type 2A Inhibitor 2 3
  • Phosphatase 2A Inhibitor I2PP2A 3 4
  • Chromatin Remodelling Factor 2 3
  • Protein SET 3 4
  • TAF-IBETA 2 3
  • IPP2A2 2 3
  • 2PP2A 2 3
  • Template-Activating Factor-I, Chromatin Remodelling Factor 3
  • Inhibitor-2 Of Protein Phosphatase-2A 3
  • Template-Activating Factor-I 2
  • Template-Activating Factor I 4
  • SET Nuclear Oncogene 3
  • I-2PP2A 4
  • I2PP2A 3
  • MRD58 3
  • SET 5

External Ids for SET Gene

Previous GeneCards Identifiers for SET Gene

  • GC09P122566
  • GC09P123092
  • GC09P124900
  • GC09P126822
  • GC09P128525
  • GC09P130485
  • GC09P131445
  • GC09P101055

Summaries for SET Gene

Entrez Gene Summary for SET Gene

  • The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for SET Gene

SET (SET Nuclear Proto-Oncogene) is a Protein Coding gene. Diseases associated with SET include Mental Retardation, Autosomal Dominant 58 and Precursor T-Cell Acute Lymphoblastic Leukemia. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include histone binding. An important paralog of this gene is SETSIP.

UniProtKB/Swiss-Prot Summary for SET Gene

  • Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.

Gene Wiki entry for SET Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SET Gene

Genomics for SET Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SET 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 SET on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SET

Top Transcription factor binding sites by QIAGEN in the SET gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • c-Myc
  • Max

Genomic Locations for SET Gene

Latest Assembly
chr9:128,683,424-128,696,400
(GRCh38/hg38)
Size:
12,977 bases
Orientation:
Plus strand

Previous Assembly
chr9:131,445,703-131,458,675
(GRCh37/hg19 by Entrez Gene)
Size:
12,973 bases
Orientation:
Plus strand

chr9:131,445,703-131,458,679
(GRCh37/hg19 by Ensembl)
Size:
12,977 bases
Orientation:
Plus strand

Genomic View for SET Gene

Genes around SET on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SET Gene

Proteins for SET Gene

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

    Protein Symbol:
    Q01105-SET_HUMAN
    Recommended name:
    Protein SET
    Protein Accession:
    Q01105
    Secondary Accessions:
    • A5A5H4
    • A6NGV1
    • B4DUE2
    • Q15541
    • Q5VXV1
    • Q5VXV2
    • Q6FHZ5

    Protein attributes for SET Gene

    Size:
    290 amino acids
    Molecular mass:
    33489 Da
    Quaternary structure:
    • Headphone-shaped homodimer. Isoforms 1 and 2 interact directly with each other and with ANP32A within the tripartite INHAT (inhibitor of acetyltransferases) complex. Isoform 1 and isoform 2 interact also with histones. Isoform 2 is a component of the SET complex, composed of at least ANP32A, APEX1, HMGB2, NME1, SET and TREX1, but not NME2 or TREX2. Within this complex, directly interacts with ANP32A, NME1, HMGB2 and TREX1; the interaction with ANP32A is enhanced after cleavage. Interacts with APBB1, CHTOP, SETBP1, SGO1.
    • (Microbial infection) Interacts with herpes simplex virus 1 VP22.

    Three dimensional structures from OCA and Proteopedia for SET Gene

    Alternative splice isoforms for SET Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SET Gene

Post-translational modifications for SET Gene

  • Isoform 2 is phosphorylated on Ser-15 and Ser-24.
  • Isoform 2 is acetylated on Lys-11.
  • Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity).
  • N-terminus of isoform 1 is methylated by METTL11A/NTM1. Mainly trimethylated (By similarity).
  • [Isoform 2]: Cleaved after Lys-176 by GZMA. The cleavage inhibits its nucleosome assembly activity and disrupts the inhibition on NME1.
  • Ubiquitination at Lys150, Lys154, Lys167, and Lys172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SET Gene

Domains & Families for SET Gene

Gene Families for SET Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SET Gene

InterPro:
Blocks:
  • Nucleosome assembly protein (NAP)

Suggested Antigen Peptide Sequences for SET Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59759, highly similar to Protein SET (A6NGV1_HUMAN)
  • cDNA FLJ51749, highly similar to Protein SET (Q5VXV3_HUMAN)
  • Template-activating factor I (SET_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01105

UniProtKB/Swiss-Prot:

SET_HUMAN :
  • A long alpha helix in the N-terminus mediates dimerization, while the earmuff domain is responsible for core histone and dsDNA binding. The C-terminal acidic domain mediates the inhibition of histone acetyltransferases and is required for the DNA replication stimulatory activity.
  • Belongs to the nucleosome assembly protein (NAP) family.
Domain:
  • A long alpha helix in the N-terminus mediates dimerization, while the earmuff domain is responsible for core histone and dsDNA binding. The C-terminal acidic domain mediates the inhibition of histone acetyltransferases and is required for the DNA replication stimulatory activity.
Family:
  • Belongs to the nucleosome assembly protein (NAP) family.
genes like me logo Genes that share domains with SET: view

Function for SET Gene

Molecular function for SET Gene

UniProtKB/Swiss-Prot Function:
Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.

Phenotypes From GWAS Catalog for SET Gene

Gene Ontology (GO) - Molecular Function for SET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
GO:0004864 protein phosphatase inhibitor activity TAS 8626647
GO:0005515 protein binding IPI 11909973
GO:0019888 protein phosphatase regulator activity TAS 11555662
genes like me logo Genes that share ontologies with SET: view
genes like me logo Genes that share phenotypes with SET: view

Human Phenotype Ontology for SET Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SET Gene

MGI Knock Outs for SET:
  • Set Set<tm1.1Wgu>

miRNA for SET Gene

miRTarBase miRNAs that target SET

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SET

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SET Gene

Localization for SET Gene

Subcellular locations from UniProtKB/Swiss-Prot for SET Gene

Cytoplasm, cytosol. Endoplasmic reticulum. Nucleus, nucleoplasm. Note=In the cytoplasm, found both in the cytosol and associated with the endoplasmic reticulum. The SET complex is associated with the endoplasmic reticulum. Following CTL attack and cleavage by GZMA, moves rapidly to the nucleus, where it is found in the nucleoplasm, avoiding the nucleolus. Similar translocation to the nucleus is also observed for lymphocyte-activated killer cells after the addition of calcium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SET gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 nucleus IBA,TAS 18374643
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 11909973
GO:0005783 endoplasmic reticulum IEA,IDA 11555662
genes like me logo Genes that share ontologies with SET: view

Pathways & Interactions for SET Gene

genes like me logo Genes that share pathways with SET: view

Pathways by source for SET Gene

3 Qiagen pathways for SET Gene
  • Granzyme Pathway
  • Granzyme-A Pathway
  • Transcriptional Regulatory Network in Embryonic Stem Cell

SIGNOR curated interactions for SET Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS 7753797
GO:0006334 nucleosome assembly TAS,IEA --
GO:0006337 nucleosome disassembly TAS 11555662
GO:0016032 viral process IEA --
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
genes like me logo Genes that share ontologies with SET: view

Drugs & Compounds for SET Gene

(6) Drugs for SET Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anesthetics Pharma 14865
Calcium Nutra 6959
genes like me logo Genes that share compounds with SET: view

Transcripts for SET Gene

mRNA/cDNA for SET Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SET

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6:
SP7:

Relevant External Links for SET Gene

GeneLoc Exon Structure for
SET

Expression for SET Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SET Gene

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



Protein tissue co-expression partners for SET Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SET

SOURCE GeneReport for Unigene cluster for SET Gene:

Hs.436687

mRNA Expression by UniProt/SwissProt for SET Gene:

Q01105-SET_HUMAN
Tissue specificity: Widely expressed. Low levels in quiescent cells during serum starvation, contact inhibition or differentiation. Highly expressed in Wilms' tumor.

Evidence on tissue expression from TISSUES for SET Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Kidney(4.7)
  • Lung(4.4)
  • Intestine(3.8)
  • Pancreas(3.7)
  • Skin(3.4)
  • Bone(2.9)
  • Heart(2.9)
  • Eye(2.8)
  • Blood(2.8)
  • Muscle(2.8)
  • Spleen(2.7)
  • Adrenal gland(2.5)
  • Lymph node(2.5)
  • Bone marrow(2.5)
  • Stomach(2.4)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with SET: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SET Gene

Orthologs for SET Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SET Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SET 29 30
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SET 29
  • 96.44 (n)
-- 30
  • 83 (a)
OneToMany
-- 30
  • 45 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SET 29 30
  • 95.67 (n)
OneToMany
-- 30
  • 86 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
-- 30
  • 80 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Set 29
  • 94.83 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SET 30
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Set 29 16 30
  • 93.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SET 30
  • 92 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SET 29 30
  • 90.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SET 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia set 29
  • 84.6 (n)
Zebrafish
(Danio rerio)
Actinopterygii seta 30
  • 83 (a)
OneToMany
setb 29 30
  • 81.02 (n)
OneToMany
Dr.28239 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9243 29
Fruit Fly
(Drosophila melanogaster)
Insecta Set 29 30 31
  • 60.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003598 29
  • 59.18 (n)
Worm
(Caenorhabditis elegans)
Secernentea spr-2 29 30 31
  • 52.72 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons NRP1 29
  • 56.91 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0576700 29
  • 56.81 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4858 30
  • 63 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3127 29
Species where no ortholog for SET was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SET Gene

ENSEMBL:
Gene Tree for SET (if available)
TreeFam:
Gene Tree for SET (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SET: view image
Alliance of Genome Resources:
Additional Orthologs for SET

Paralogs for SET Gene

Variants for SET Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SET Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1031254 Uncertain Significance: Mental retardation, autosomal dominant 58 128,690,006(+) A/T
NM_003011.4(SET):c.73+351A>T
MISSENSE_VARIANT,INTRON
860686 Uncertain Significance: not provided 128,693,813(+) G/C
NM_003011.4(SET):c.663+5G>C
INTRON
870584 Likely Pathogenic: Mental retardation, autosomal dominant 58 128,692,725(+) CAG/C
NM_003011.4(SET):c.340_341del (p.Glu114fs)
FRAMESHIFT
873445 Uncertain Significance: Mental retardation, autosomal dominant 58 128,691,167(+) C/G
NM_003011.4(SET):c.74-3C>G
INTRON
916066 Likely Pathogenic: not provided 128,691,966(+) TT/A
NM_003011.4(SET):c.240_241delinsA (p.Asn80fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SET Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1237n67 CNV gain 20364138
dgv12882n54 CNV loss 21841781
dgv12883n54 CNV gain 21841781
dgv12884n54 CNV gain 21841781
dgv12885n54 CNV loss 21841781
dgv12886n54 CNV loss 21841781
dgv12887n54 CNV gain 21841781
esv27225 CNV loss 19812545
nsv1075271 CNV deletion 25765185
nsv1075679 CNV deletion 25765185
nsv1137667 CNV deletion 24896259
nsv482132 CNV gain 20164927
nsv615390 CNV gain 21841781
nsv615393 CNV gain 21841781
nsv615394 CNV loss 21841781
nsv615400 CNV gain 21841781
nsv615408 CNV loss 21841781
nsv825097 CNV loss 20364138
nsv825106 CNV gain 20364138
nsv951775 CNV deletion 24416366
nsv982347 CNV duplication 23825009

Variation tolerance for SET Gene

Residual Variation Intolerance Score: 48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SET Gene

Human Gene Mutation Database (HGMD)
SET
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SET
Leiden Open Variation Database (LOVD)
SET

SNP Genotyping and Copy Number Assays for research

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

Disorders for SET Gene

MalaCards: The human disease database

(7) MalaCards diseases for SET Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 58
  • mrd58
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
leukemia
  • leukemias
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards
Search SET in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SET_HUMAN
  • Note=A chromosomal aberration involving SET is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with NUP214/CAN.
  • Mental retardation, autosomal dominant 58 (MRD58) [MIM:618106]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD58 is characterized by delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features. {ECO:0000269 PubMed:25356899, ECO:0000269 PubMed:29688601}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for SET Gene

acute undifferentiated leukemia (AUL);see also CAN

Additional Disease Information for SET

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SET: view

Publications for SET Gene

  1. De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. (PMID: 29688601) Stevens SJC … Brunner HG (Human mutation 2018) 3 4 72
  2. Inhibitors of protein phosphatase-2A from human brain structures, immunocytological localization and activities towards dephosphorylation of the Alzheimer type hyperphosphorylated tau. (PMID: 15642345) Tsujio I … Iqbal K (FEBS letters 2005) 3 4 22
  3. Tumor suppressor NM23-H1 is a granzyme A-activated DNase during CTL-mediated apoptosis, and the nucleosome assembly protein SET is its inhibitor. (PMID: 12628186) Fan Z … Lieberman J (Cell 2003) 3 4 22
  4. Expression of SET, an inhibitor of protein phosphatase 2A, in renal development and Wilms' tumor. (PMID: 9773788) Carlson SG … Ballermann BJ (Journal of the American Society of Nephrology : JASN 1998) 3 4 22
  5. The myeloid leukemia-associated protein SET is a potent inhibitor of protein phosphatase 2A. (PMID: 8626647) Li M … Damuni Z (The Journal of biological chemistry 1996) 2 3 4

Products for SET Gene

Sources for SET Gene