Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6418
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol SET   Gene   UCSC   Ensembl
Aliases 2PP2A, I2PP2A, IGAAD, IPP2A2, PHAPII, TAF-I, TAF-IBETA
Gene name SET nuclear proto-oncogene
Alternate names protein SET, HLA-DR-associated protein II, SET nuclear oncogene, SET translocation (myeloid leukemia-associated), Template-Activating Factor-I, chromatin remodelling factor, inhibitor of granzyme A-activated DNase, inhibitor-2 of protein phosphatase-2A, phosphat,
Gene location 9q34.11 (128683431: 128696395)     Exons: 12     NC_000009.12
Gene summary(Entrez) 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]
OMIM 600960

Protein Summary

Protein general information Q01105  

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)

Length: 290  Mass: 33,489

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

Sequence MAPKRQSPLPPQKKKPRPPPALGPEETSASAGLPKKGEKEQQEAIEHIDEVQNEIDRLNEQASEEILKVEQKYNK
LRQPFFQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEEALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENK
VLSKEFHLNESGDPSSKSTEIKWKSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDI
WPNPLQYYLVPDMDDEEGEGEEDDDDDEEEEGLEDIDEEGDEDEGEEDEDDDEGEEGEEDEGEDD
Structural information
Interpro:  IPR002164

Pfam:  
PF00956

PDB:  
2E50
PDBsum:   2E50

DIP:  
33561
MINT:   4990855
STRING:   ENSP00000361777;
Other Databases GeneCards:  SET;  Malacards:  SET

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003677 DNA binding
IEA molecular_function
GO:0004864 protein phosphatase inhib
itor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0006260 DNA replication
TAS biological_process
GO:0006334 nucleosome assembly
IEA biological_process
GO:0006337 nucleosome disassembly
TAS biological_process
GO:0006913 nucleocytoplasmic transpo
rt
NAS biological_process
GO:0016032 viral process
IEA biological_process
GO:0034047 regulation of protein pho
sphatase type 2A activity
IEA biological_process
GO:0035067 negative regulation of hi
stone acetylation
TAS biological_process
GO:0042393 histone binding
TAS molecular_function
GO:0043086 negative regulation of ca
talytic activity
IEA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043488 regulation of mRNA stabil
ity
TAS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IGI biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0003677 DNA binding
IEA molecular_function
GO:0004864 protein phosphatase inhib
itor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IEA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0006260 DNA replication
TAS biological_process
GO:0006334 nucleosome assembly
IEA biological_process
GO:0006334 nucleosome assembly
TAS biological_process
GO:0006337 nucleosome disassembly
TAS biological_process
GO:0006913 nucleocytoplasmic transpo
rt
NAS biological_process
GO:0016032 viral process
IEA biological_process
GO:0034047 regulation of protein pho
sphatase type 2A activity
IEA biological_process
GO:0035067 negative regulation of hi
stone acetylation
TAS biological_process
GO:0042393 histone binding
TAS molecular_function
GO:0043086 negative regulation of ca
talytic activity
IEA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043488 regulation of mRNA stabil
ity
TAS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IGI biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0004864 protein phosphatase inhib
itor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0006260 DNA replication
TAS biological_process
GO:0006334 nucleosome assembly
TAS biological_process
GO:0006337 nucleosome disassembly
TAS biological_process
GO:0006913 nucleocytoplasmic transpo
rt
NAS biological_process
GO:0035067 negative regulation of hi
stone acetylation
TAS biological_process
GO:0042393 histone binding
TAS molecular_function
GO:0043234 protein complex
IDA cellular_component
GO:0043488 regulation of mRNA stabil
ity
TAS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IGI biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 16249290
Endometriosis INFBASE16249290

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16249290 Endometrio
sis

30 (15 patients
undergoing lap
aroscopy or hys
terectomy for e
ndometriosis, 1
5 controls)
IGFBP5
PIM2
RPL41
PSAP
FBLN1
SIPL
DLX5
HSD11B2
SET
and RHOE
Show abstract