PIK3CB

Chr 3

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

Also known as: P110BETA, PI3K, PI3KBETA, PIK3C1

NCBI Gene: 5291ENSG00000051382UniProt: P42338OMIM: 602925

This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

OMIMResearchGenerating clinical summary…
LOEUF 0.25
Clinical Summary— PIK3CB
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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.25LOEUF
pLI 1.000
Z-score 6.27
OE 0.14 (0.09–0.25)
Highly constrained

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

Missense Constraint?
3.09Z-score
OE missense 0.63 (0.58–0.69)
357 obs / 563.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.14 (0.09–0.25)
0≤0.351.4
Missense OE?0.63 (0.58–0.69)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 9 / 62.4Missense obs/exp: 357 / 563.6Syn Z: 0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIK3CB · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients