TBX20

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Description

T-box transcription factor 20

Tissue specificity

Tissue enriched (heart muscle)

Subcell location

Nucleoli fibrillar center

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

7 (35202430 - 35254100)

Ensembl ID

ENSG00000164532  (ver. 103.38)

Orthologs

Mouse Tbx20: ENSMUSG00000031965

UniProt

Q9UMR3

neXtProt

NX_Q9UMR3

Human splice variants
Mouse splice variants

Protein structure