SET SET nuclear proto-oncogene
Gene ID: 6418, updated on 3-Apr-2024Gene type: protein coding
Also known as: 2PP2A; IGAAD; MRD58; TAF-I; I2PP2A; IPP2A2; PHAPII; TAF-IBETA
- See all available tests in GTR for this gene
- Go to complete Gene record for SET
- Go to Variation Viewer for SET variants
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. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Intellectual disability, autosomal dominant 58 | See labs |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available |
Genomic context
- Location:
- 9q34.11
- Sequence:
- Chromosome: 9; NC_000009.12 (128683424..128696396)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SET variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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