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Protein Coding Gene : Etv6 ets variant 6

Primary Identifier  MGI:109336 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  14011
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including mesenchymal cell apoptotic process; regulation of DNA-templated transcription; and vitellogenesis. Predicted to be located in cytosol and nucleolus. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Used to study breast cancer. Human ortholog(s) of this gene implicated in hematologic cancer (multiple) and thrombocytopenia. Orthologous to human ETV6 (ETS variant transcription factor 6).
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. Heterozygosity for the p.R355* mutation affects hematopoietic stem and precursor cell (HSPC) function and slows blood clotting. [provided by MGI curators]
  • synonyms:
  • translocation-ets-leukemia,
  • expressed sequence AW123102,
  • AW123102,
  • AW557856,
  • MGD-MRK-38381,
  • ets variant 6,
  • MGI:2141710,
  • Etv6,
  • MGI:2141650,
  • expressed sequence AW557856,
  • Tel

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