PIM3

Chr 22

Pim-3 proto-oncogene, serine/threonine kinase

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.24
Clinical SummaryPIM3
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.24LOEUF
pLI 0.982
Z-score 3.24
OE 0.00 (0.000.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.92Z-score
OE missense 0.81 (0.710.93)
151 obs / 186.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.24)
00.351.4
Missense OE0.81 (0.710.93)
00.61.4
Synonymous OE1.62
01.21.6
LoF obs/exp: 0 / 12.2Missense obs/exp: 151 / 186.4Syn Z: -4.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PIM3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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