ETS1

Chr 11

ETS proto-oncogene 1, transcription factor

Also known as: ETS-1, EWSR2, c-ets-1, p54

NCBI Gene: 2113 ENSG00000134954 UniProt: P14921 OMIM: 164720

This transcription factor directly controls expression of cytokine and chemokine genes and regulates lymphoid cell differentiation, survival and proliferation. Mutations cause autosomal dominant thrombocytopenia with elevated serum ETS1, characterized by bleeding tendency and immune dysregulation. The gene is highly constrained against loss-of-function variants (LOEUF 0.389), indicating that haploinsufficiency is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.39

LOEUF

LOF

Mechanism· predicted