Gene Gene information from NCBI Gene database.
Entrez ID 6418
Gene name SET nuclear proto-oncogene
Gene symbol SET
Synonyms (NCBI Gene)
2PP2AI2PP2AIGAADIPP2A2MRD58PHAPIITAF-ITAF-IBETA
Chromosome 9
Chromosome location 9q34.11
Summary 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.
8
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.
1168
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SERTAD1 Activation 20570897
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0004864 Function Protein phosphatase inhibitor activity TAS 8626647
GO:0005515 Function Protein binding IPI 11909973, 12628186, 16189514, 17245428, 17309103, 17318177, 19343227, 20195357, 21988832, 23195690, 24983498, 25416956, 31515488, 32296183, 32814053, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600960 10760 ENSG00000119335
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
43
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic; Pathogenic rs1554776342 RCV001526660
Intellectual disability Likely pathogenic; Pathogenic rs1554776342 RCV003106006
Intellectual disability, autosomal dominant 58 Pathogenic; Likely pathogenic rs764645296, rs2490433063, rs2523226839, rs2490430337, rs1554776342, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1589460606, rs1589457762, rs1861628072, rs1861593395, rs1861625938 RCV001849903
RCV003224941
RCV003233437
RCV004595087
RCV000678248
RCV000678249
RCV000678250
RCV000678251
RCV000678252
RCV000995867
RCV003989623
RCV002252311
RCV001090153
RCV001253114
SET-related disorder Likely pathogenic; Pathogenic rs1554776342 RCV003325969
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dysgerminoma other rs1554777032 RCV000505617
Gastric cancer Likely benign rs140324291 RCV005871422
Hepatocellular carcinoma other rs768759521 RCV000505665
See cases Uncertain significance rs1423640750 RCV002253053
Associations from Text MiningDisease associations identified through Pubtator
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