ELF5

Chr 11

E74 like ETS transcription factor 5

Also known as: ESE2

NCBI Gene: 2001 ENSG00000135374 UniProt: Q9UKW6

ELF5 encodes an epithelium-specific ETS family transcription factor that regulates terminal differentiation of keratinocytes and controls expression of genes in glandular epithelial tissues including salivary gland and prostate. Pathogenic variants cause autosomal dominant hypohidrotic ectodermal dysplasia with distinctive facial features, sparse hair, reduced sweating, and dental abnormalities. The gene shows low constraint against loss-of-function variants, suggesting tolerance to haploinsufficiency in most contexts.

ResearchSummary from RefSeq, UniProt

This gene encodes an epithelium-specific ETS family transcription factor. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. This gene has been implicated as a tumor suppressive transcription factor in breast cancer. [provided by RefSeq, May 2022]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.80

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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