PI4KB

Chr 1

phosphatidylinositol 4-kinase beta

Also known as: DFNA87, NPIK, PI4K-BETA, PI4K92, PI4KBETA, PI4KIII, PI4KIIIBETA, PIK4CB

NCBI Gene: 5298ENSG00000143393UniProt: Q9UBF8

Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Involved in inner ear development. Acts upstream of or within lysosome organization. Located in Golgi membrane. Implicated in autosomal dominant nonsyndromic deafness 87. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 87

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.
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.34
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.34LOEUF
pLI 0.866
Z-score 4.85
OE 0.19 (0.11–0.34)
Highly constrained

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

Missense Constraint?
3.55Z-score
OE missense 0.55 (0.49–0.61)
268 obs / 489.0 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.19 (0.11–0.34)
0≤0.351.4
Missense OE?0.55 (0.49–0.61)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 8 / 41.8Missense obs/exp: 268 / 489.0Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PI4KB · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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