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Protein Coding Gene : Tbx20 T-box 20

Primary Identifier  MGI:1888496 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  57246
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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including heart development; mesenchymal cell development; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; negative regulation of SMAD protein signal transduction; and regulation of DNA-templated transcription. Located in cytoplasm and nucleus. Is expressed in several structures, including early conceptus; genitourinary system; heart; hindbrain; and sensory organ. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in atrial heart septal defect; atrial heart septal defect 4; congenital heart disease; tetralogy of Fallot; and ventricular septal defect. Orthologous to human TBX20 (T-box transcription factor 20).
PHENOTYPE: Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation. [provided by MGI curators]
  • synonyms:
  • MGI:2143174,
  • RIKEN cDNA 9430010M06 gene,
  • Tbx20,
  • expressed sequence AL022859,
  • T-box 20,
  • AL022859,
  • 9430010M06Rik,
  • Tbx12,
  • MGI:1924493

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