ETS1 Chromosome 11
ETS proto-oncogene 1, transcription factor
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What This Gene Does
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]
Gene Info
Gene Group
ETS transcription factor family
Locus Type
gene with protein product
Location
11q24.3
Ensembl
ENSG00000134954
Associated Conditions (2)
ETS1-related disorder
11q partial monosomy syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS193272250 | Health Risk | Likely pathogenic | ETS1-related disorder, ETS1-related disorder |
| RS1565372210 | Health Risk | Pathogenic | 11q partial monosomy syndrome, 11q partial monosomy syndrome |