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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRKAR1B
protein kinase cAMP-dependent type I regulatory subunit beta
Chromosome 7 · 7p22.3
NCBI Gene: 5575Ensembl: ENSG00000188191.17HGNC: HGNC:9390UniProt: P31321
77PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranecAMP-dependent protein kinase inhibitor activityprotein kinase A catalytic subunit bindingMarbach-Schaaf neurodevelopmental syndromeprimary ciliary dyskinesianeurodegenerative diseasemixed connective tissue disease
✦AI Summary

PRKAR1B encodes the regulatory subunit beta (RIβ) of cAMP-dependent protein kinase A (PKA), serving as a critical modulator of cAMP signaling by binding and inhibiting PKA catalytic subunits 1. The protein functions as a homodimer that is protected from aggregation through interaction with catalytic subunits in a dose-dependent manner 2. Mechanistically, PRKAR1B regulates PKA activity through cAMP binding and complex assembly 1. The L50R mutation disrupts RIβ dimerization, causing pathological monomer aggregation that progressively accumulates with age and is accelerated by cAMP signaling, driving age-dependent neurodegeneration 2. Additionally, PRKAR1B generates microprotein-coding isoforms through intronic polyadenylation that are upregulated by genotoxic drugs and promote p53-mediated chemosensitivity 3. Disease associations include Marbach-Schaaf neurodevelopmental syndrome characterized by intellectual disability, autism spectrum disorder, apraxia, and reduced pain sensitivity from de novo missense variants 1. PRKAR1B variants and copy-number gains contribute to adrenocortical disease and Cushing syndrome by decreasing PKA activity 4. The gene also functions as an oncogenic biomarker in head and neck squamous cell carcinoma, with high expression associated with poor prognosis, enhanced tumor proliferation and migration, and potential immunotherapy responsiveness 5. PRKAR1B-AS2 long noncoding RNA promotes ovarian cancer tumorigenesis and chemoresistance via PI3K/AKT/mTOR pathway activation 6.

Sources cited
1
RIβ-L50R mutation disrupts dimerization causing protein aggregation and driving age-dependent neurodegeneration
PMID: 38743596
2
Heterozygous PRKAR1B variants cause neurodevelopmental disorder with intellectual disability, autism spectrum disorder, apraxia, and pain insensitivity
PMID: 33833410
3
PRKAR1B variants and copy-number gains contribute to adrenocortical disease and Cushing syndrome with decreased PKA activity
PMID: 32895490
4
PRKAR1B generates microprotein-coding intronic polyadenylation isoforms upregulated by genotoxic drugs that promote p53 induction and chemosensitivity
PMID: 41131620
5
PRKAR1B is highly expressed in head and neck squamous cell carcinoma and associated with poor prognosis, tumor proliferation, migration, and immunotherapy response
PMID: 41798949
6
PRKAR1B-AS2 long noncoding RNA promotes ovarian cancer tumorigenesis and chemoresistance via PI3K/AKT/mTOR pathway
PMID: 33668685
Disease Associationsⓘ21
Marbach-Schaaf neurodevelopmental syndromeOpen Targets
0.65Moderate
primary ciliary dyskinesiaOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
mixed connective tissue diseaseOpen Targets
0.28Weak
esophageal diseaseOpen Targets
0.27Weak
Varicose veinsOpen Targets
0.26Weak
anaphylaxisOpen Targets
0.22Weak
oropharynx cancerOpen Targets
0.22Weak
coronary artery diseaseOpen Targets
0.20Weak
developmental disorder of mental healthOpen Targets
0.18Weak
coronary atherosclerosisOpen Targets
0.17Weak
congenital heart diseaseOpen Targets
0.12Weak
Dupuytren ContractureOpen Targets
0.11Weak
Pilonidal abscessOpen Targets
0.11Weak
fibroblastic disorderOpen Targets
0.10Suggestive
liver cancerOpen Targets
0.07Suggestive
fasciitisOpen Targets
0.07Suggestive
Palmar FibromatosisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
Marbach-Schaaf neurodevelopmental syndromeUniProt
Pathogenic Variants6
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)Pathogenic
PRKAR1B-related neurodevelopmental disorder|not provided|Marbach-Schaaf neurodevelopmental syndrome
★★☆☆2025→ Residue 335
NM_001164760.2(PRKAR1B):c.904G>A (p.Val302Met)Pathogenic
PRKAR1B-related disorder|not provided
★☆☆☆2025→ Residue 302
NM_001164760.2(PRKAR1B):c.917G>A (p.Arg306Gln)Likely pathogenic
not provided|Marbach-Schaaf neurodevelopmental syndrome
★☆☆☆2023→ Residue 306
NM_001164760.2(PRKAR1B):c.570G>A (p.Trp190Ter)Likely pathogenic
Marbach-Schaaf neurodevelopmental syndrome
★☆☆☆2022→ Residue 190
NM_001164760.2(PRKAR1B):c.926A>C (p.Asn309Thr)Likely pathogenic
PRKAR1B-related disorder
☆☆☆☆2024→ Residue 309
NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu)Pathogenic
Marbach-Schaaf neurodevelopmental syndrome
☆☆☆☆2021→ Residue 167
View on ClinVar ↗
Related Genes
AKAP1Protein interaction97%GPR161Protein interaction94%LIPEProtein interaction91%PRKACAProtein interaction91%PRKACBProtein interaction91%PRKXProtein interaction89%
Tissue Expression6 tissues
Brain
100%
Ovary
25%
Bone Marrow
18%
Heart
14%
Liver
12%
Lung
8%
Gene Interaction Network
Click a node to explore
PRKAR1BAKAP1GPR161LIPEPRKACAPRKACBPRKX
PROTEIN STRUCTURE
Preparing viewer…
PDB4F9K · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.48 [0.34–0.69]
RankingsWhere PRKAR1B stands among ~20K protein-coding genes
  • #6,197of 20,598
    Most Researched77
  • #3,363of 5,498
    Most Pathogenic Variants6
  • #5,148of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedPRKAR1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
PMID: 38743596
Brain · 2024
1.00
2
Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
PMID: 32895490
Genet Med · 2021
0.90
3
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
PMID: 33833410
Genet Med · 2021
0.80
4
Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred.
PMID: 15579186
Clin Endocrinol (Oxf) · 2004
0.70
5
PRKAR1B-AS2 Long Noncoding RNA Promotes Tumorigenesis, Survival, and Chemoresistance via the PI3K/AKT/mTOR Pathway.
PMID: 33668685
Int J Mol Sci · 2021
0.60