PRKACB

Chr 1

protein kinase cAMP-activated catalytic subunit beta

Also known as: CAFD2, PKA C-beta, PKACB

NCBI Gene: 5567ENSG00000142875UniProt: P22694

The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardioacrofacial dysplasia 2

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
46
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — PRKACB
Authoritative clinical overview · Recommended first read
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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?
0.48LOEUF
pLI 0.351
Z-score 3.35
OE 0.23 (0.12–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.80Z-score
OE missense 0.45 (0.37–0.53)
90 obs / 202.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.12–0.48)
0≤0.351.4
Missense OE?0.45 (0.37–0.53)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 5 / 22.0Missense obs/exp: 90 / 202.2Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRKACB · 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