Gene: SET
Alternate names for this Gene: 2PP2A|I2PP2A|IGAAD|IPP2A2|MRD58|PHAPII|TAF-I|TAF-IBETA
Gene 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-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.
Gene is located in Chromosome: 9
Location in Chromosome : 9q34.11
Description of this Gene: SET nuclear proto-oncogene
Type of Gene: protein-coding
rs1554776500 in
SET gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
PMID 29688601 2018 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 25356899 2014 De novo mutations in moderate or severe intellectual disability.
rs1554776342 in
SET gene and
Muscle hypotonia
PMID 27775603 2016 Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression.
PMID 11231286 2001 Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.