TEAD4

Chr 12

TEA domain transcription factor 4

Also known as: EFTR-2, RTEF1, TCF13L1, TEF-3, TEF3, TEFR-1, hRTEF-1B

NCBI Gene: 7004 ENSG00000197905 UniProt: Q15561

TEAD4 encodes a transcription factor that binds to regulatory elements in muscle-specific gene promoters and mediates gene expression in the Hippo signaling pathway, which controls cell proliferation and organ size. Mutations cause Sveinsson chorioretinal atrophy, an autosomal dominant progressive retinal degeneration typically presenting in adulthood with night blindness and visual field defects. The gene shows low constraint against loss-of-function variants, suggesting some tolerance to reduced function.

ResearchSummary from RefSeq, UniProt

This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

123

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.81

LOEUF

Mechanism· predicted

Some data sources returned errors (1)