PI4K2B

Chr 4

phosphatidylinositol 4-kinase type 2 beta

Also known as: PI4KIIB, PIK42B

NCBI Gene: 55300ENSG00000038210UniProt: Q8TCG2OMIM: 612101

This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.67
OE 0.62 (0.41–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.24Z-score
OE missense 0.77 (0.68–0.87)
172 obs / 224.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.41–0.97)
0≤0.351.4
Missense OE?0.77 (0.68–0.87)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 14 / 22.6Missense obs/exp: 172 / 224.4Syn Z: 1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PI4K2B · 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