Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6418
Gene name Gene Name - the full gene name approved by the HGNC.
SET nuclear proto-oncogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SET
Synonyms (NCBI Gene) Gene synonyms aliases
2PP2A, I2PP2A, IGAAD, IPP2A2, MRD58, PHAPII, TAF-I, TAF-IBETA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD58
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez 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-d
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554776342 ACAG>- Pathogenic Coding sequence variant, frameshift variant
rs1554776500 T>G Pathogenic Coding sequence variant, missense variant
rs1554776933 ->TA Pathogenic Coding sequence variant, frameshift variant
rs1554776938 CTT>- Pathogenic Inframe indel, coding sequence variant, stop gained
rs1564360978 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001112 hsa-miR-199b-5p qRT-PCR 19900756
MIRT001112 hsa-miR-199b-5p Western blot 19900756
MIRT001112 hsa-miR-199b-5p qRT-PCR 19900756
MIRT001112 hsa-miR-199b-5p Western blot 19900756
MIRT001112 hsa-miR-199b-5p Luciferase reporter assay 19900756
Transcription factors
Transcription factor Regulation Reference
SERTAD1 Activation 20570897
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA 21873635
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA 21873635
GO:0004864 Function Protein phosphatase inhibitor activity TAS 8626647
GO:0005515 Function Protein binding IPI 11909973, 16189514, 17245428, 17318177, 19343227, 20195357, 21988832, 23195690, 24983498, 25416956, 31515488
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600960 10760 ENSG00000119335
Protein
UniProt ID Q01105
Protein name Protein SET (HLA-DR-associated protein II) (Inhibitor of granzyme A-activated DNase) (IGAAD) (PHAPII) (Phosphatase 2A inhibitor I2PP2A) (I-2PP2A) (Template-activating factor I) (TAF-I)
Protein 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)
PDB 2E50 , 7MTO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00956 NAP 88 236 Nucleosome assembly protein (NAP) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Low levels in quiescent cells during serum starvation, contact inhibition or differentiation. Highly expressed in Wilms' tumor.
Sequence
MAPKRQSPLPPQKKKPRPPPALGPEETSASAGLPKKGEKEQQEAIEHIDEVQNEIDRLNE
QASEEILKVEQKYNKLRQPFFQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEEALHYL
TRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTEIKWKSGKDLT
KRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQYYLVP
DMDD
EEGEGEEDDDDDEEEEGLEDIDEEGDEDEGEEDEDDDEGEEGEEDEGEDD
Sequence length 290
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Condensation of Prophase Chromosomes
HuR (ELAVL1) binds and stabilizes mRNA
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Lymphoblastic leukemia Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-cell acute lymphoblastic leukemia rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)
29279377
Mental retardation Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
28135719, 25356899, 29688601
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 25128526
Colorectal Neoplasms Associate 36274363
Leukemia Associate 33327316
Leukemia Myeloid Acute Associate 17296573, 19166587, 21990161
Neoplasm Metastasis Inhibit 12628186
Neoplasms Associate 11978794, 19028839, 24025258, 24927563, 32071079, 34489496
Neoplasms Inhibit 22673740, 24025252
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 19166587
Prostatic Neoplasms Associate 24025252, 24025258
Squamous Cell Carcinoma of Head and Neck Associate 28636114