PIM3

Chr 22

Pim-3 proto-oncogene, serine/threonine kinase

Also known as: pim-3

NCBI Gene: 415116 ENSG00000198355 UniProt: Q86V86

The PIM3 gene encodes a serine/threonine protein kinase that regulates cell survival, protein synthesis, and energy metabolism through phosphorylation of multiple targets including BAD and regulation of MYC transcriptional activity. PIM3 is highly constrained against loss-of-function variants in the general population, but pathogenic variants causing Mendelian disease have not been clearly established in clinical databases. The gene's role in preventing apoptosis and promoting cell survival suggests potential for developmental or neurological phenotypes if disease-causing variants are identified.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]

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

0.24

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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