ETV2 Chromosome 19
ETS variant transcription factor 2
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What This Gene Does
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule biosynthetic process. Predicted to be active in nucleus. Implicated in limb ischemia. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
ETS transcription factor family
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000105672
Associated Conditions (5)
Abnormal vertebral morphology
Hypoplastic left heart syndrome
Heart
malformation of
Polydactyly
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371833362 | Health Risk | Likely pathogenic | Abnormal vertebral morphology, Hypoplastic left heart syndrome, Heart |
| RS755996862 | Health Risk | Likely pathogenic | Abnormal vertebral morphology, Hypoplastic left heart syndrome, Heart |