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ETV2

Chr 19q13.12

ETS variant transcription factor 2

Aliases:
ER71
MANE:
ENST00000402764.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Abnormal vertebral morphology

    0.32
  • polydactyly

    0.32
  • Abnormal heart morphology

    0.32
  • hypoplastic left heart syndrome

    0.32
  • myocardial infarction

    0.09
  • neoplasm

    0.08
  • glioblastoma

    0.08
  • prostate carcinoma

    0.04
  • central nervous system cancer

    0.04
  • glioma

    0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ETS translocation variant 2

Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.