TBX5

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Description

T-box transcription factor 5

Tissue specificity

Group enriched (heart muscle, lung, placenta)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

12 (114353911 - 114408442)

Ensembl ID

ENSG00000089225  (ver. 103.38)

Orthologs

Mouse Tbx5: ENSMUSG00000018263

UniProt

Q99593

neXtProt

NX_Q99593

Human splice variants
Mouse splice variants

Protein structure