EGR3

Chr 8

early growth response 3

Also known as: EGR-3, PILOT

NCBI Gene: 1960 ENSG00000179388 UniProt: Q06889

The protein is a transcription factor with C2H2-type zinc fingers that regulates gene expression controlling biological rhythms and is involved in muscle spindle development, muscle development, lymphocyte development, and neuronal development. Mutations cause autosomal dominant disorders, though specific associated diseases are not well-established in the provided data. This gene is highly constrained against loss-of-function variation (pLI 0.95, LOEUF 0.31), suggesting that haploinsufficiency is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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