SET
Chr 9SET nuclear proto-oncogene
Also known as: 2PP2A, I2PP2A, IGAAD, IPP2A2, MRD58, PHAPII, TAF-I, TAF-IBETA
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SET · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes
ACTIVE NOT RECRUITINGOxidative Phosphorylation Targeting In Malignant Glioma Using Metformin Plus Radiotherapy Temozolomide
RECRUITINGmiRNA Panel for PCa Diagnosis
RECRUITINGDMCRN-02-001: Assessing Pediatric Endpoints in DM1
RECRUITINGIdentification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
RECRUITINGAnti CD19 Gene Therapy for B-cell Lymphoma
RECRUITINGRole of Cardiovascular Imaging in the Early Diagnosis of Hypertrophic Cardiomyopathy in Women
ACTIVE NOT RECRUITINGUsing FDG-PET/CT to Assess Response of Bone-Dominant Metastatic Breast Cancer, FEATURE Study
ACTIVE NOT RECRUITINGTraining Induced Muscle-Adipose EV Communication
NOT YET RECRUITINGRegistry of Patients With MPNs in Taiwan
ACTIVE NOT RECRUITINGA Multicenter Observational Study to Understand the Clinical Characteristics, Treatment Patterns and Access to Novel Therapies of Patients With Diffuse Large B-Cell Lymphoma in the MEA Region
RECRUITINGExploratory Study on a Multi-nutrient Supplement and Exercise Program for Improving Health Markers Associated to Longevity in Pre-frail Adults
RECRUITINGExternal Resources
Links to major genomics databases and tools