PDE4B

Chr 1

phosphodiesterase 4B

Also known as: DPDE4, PDEIVB

NCBI Gene: 5142ENSG00000184588UniProt: Q07343

This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

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.
1
Active trials
116
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.40
LOEUF
Multiple*
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
Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.475
Z-score 4.38
OE 0.22 (0.13–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.77Z-score
OE missense 0.61 (0.55–0.68)
249 obs / 406.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.13–0.40)
0≤0.351.4
Missense OE?0.61 (0.55–0.68)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 8 / 36.6Missense obs/exp: 249 / 406.0Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDE4B · 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