SET (SET nuclear proto-oncogene)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SERTAD1 Activation 20570897
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600960 10760 ENSG00000119335
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
KRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQYYLVPDMDD
EEGEGEEDDDDDEEEEGLEDIDEEGDEDEGEEDEDDDEGEEGEEDEGEDD
Sequence length 290
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Condensation of Prophase Chromosomes
HuR (ELAVL1) binds and stabilizes mRNA
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 58, intellectual disability rs1554776938, rs1589460606, rs1589457762, rs1861628072, rs1861593395, rs1554776342, rs1554776500, rs1564360978, rs1554776933 N/A
Developmental Delay global developmental delay rs1554776342 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dysgerminoma dysgerminoma N/A N/A ClinVar
hepatocellular carcinoma Hepatocellular carcinoma N/A N/A ClinVar
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease 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