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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
Chromosome 17 · 17q24.2
NCBI Gene: 5573Ensembl: ENSG00000108946.17HGNC: HGNC:9388UniProt: B2R5T5
349PubMed Papers
24Diseases
0Drugs
116Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of gene expressionimmunological synapseaxonemecAMP-dependent protein kinase inhibitor activityCarney complex, type 1Acrodysostosis 1 with or without hormone resistanceCarney complexpigmented nodular adrenocortical disease, primary, 1
✦AI Summary

PRKAR1A encodes the regulatory subunit type 1α of cAMP-dependent protein kinase A (PKA), a critical component of cAMP signaling that modulates serine-threonine kinase activity in response to cAMP levels 1. The protein functions as a negative regulator of PKA catalytic activity, maintaining the inactive PKA holoenzyme state until cAMP binding triggers dissociation and kinase activation 1. Inactivating mutations in PRKAR1A disrupt normal cAMP-PKA signaling, leading to aberrant pathway activation 2. This mechanism underlies Carney complex, an autosomal dominant multiple endocrine neoplasia syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxomas, and endocrine tumors including primary pigmented nodular adrenocortical disease, pituitary adenomas, thyroid cancers, and gonadal tumors 23. Approximately 70% of Carney complex patients harbor PRKAR1A mutations 3. PRKAR1A mutations also cause acrodysostosis with hormonal resistance, characterized by brachydactyly, facial dysostosis, and impaired hormone responsiveness due to defective cAMP binding 4. Additionally, PRKAR1A loss represents a molecular driver in malignant peripheral nerve sheath tumor progression 5. While PRKAR1A exhibits tumor suppressor properties in affected tissues, it likely functions as a relatively weak tumorigenic signal requiring cooperation with other pathways 6.

Sources cited
1
PRKAR1A codes the type 1α regulatory subunit of cAMP-dependent PKA, regulates PKA serine-threonine kinase activity in response to cAMP
PMID: 15331577
2
PRKAR1A defects cause Carney complex with ACTH-independent Cushing syndrome, myxomas, pituitary and thyroid tumors through aberrant cAMP-PKA signaling
PMID: 30428497
3
PRKAR1A germline mutations found in 70% of Carney complex patients; mutations typically produce premature stop codons
PMID: 21536508
4
Mutations impairing cAMP binding to PRKAR1A cause acrodysostosis with hormonal resistance, characterized by brachydactyly and nasal hypoplasia
PMID: 22815067
5
PRKAR1A loss is a key molecular driver in malignant peripheral nerve sheath tumor progression
PMID: 33588442
6
PRKAR1A inactivating mutations in Carney complex function as tumor suppressor defects with PRKAR1A acting as relatively weak tumorigenic signal
PMID: 23652670
Disease Associationsⓘ24
Carney complex, type 1Open Targets
0.80Strong
Acrodysostosis 1 with or without hormone resistanceOpen Targets
0.80Strong
Carney complexOpen Targets
0.73Strong
pigmented nodular adrenocortical disease, primary, 1Open Targets
0.67Moderate
familial atrial myxomaOpen Targets
0.65Moderate
acrodysostosisOpen Targets
0.61Moderate
amelogenesis imperfecta type 1GOpen Targets
0.56Moderate
hereditary neoplastic syndromeOpen Targets
0.54Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.54Moderate
cancerOpen Targets
0.53Moderate
endocrine neoplasmOpen Targets
0.51Moderate
malignant endocrine neoplasmOpen Targets
0.51Moderate
adrenal cortex carcinomaOpen Targets
0.46Moderate
medulloblastomaOpen Targets
0.39Weak
papillary thyroid carcinomaOpen Targets
0.38Weak
follicular thyroid carcinomaOpen Targets
0.38Weak
myxomaOpen Targets
0.38Weak
thyroiditisOpen Targets
0.37Weak
Thyroid Gland Hyalinizing Trabecular TumorOpen Targets
0.37Weak
Thyroid Gland Oncocytic Follicular CarcinomaOpen Targets
0.37Weak
Acrodysostosis 1, with or without hormone resistanceUniProt
Carney complex 1UniProt
Intracardiac myxomaUniProt
Primary pigmented nodular adrenocortical disease 1UniProt
Pathogenic Variants116
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)Pathogenic
Carney complex, type 1|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 164
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter)Pathogenic
Carney complex, type 1|not provided|Carney complex
★★☆☆2025→ Residue 228
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)Pathogenic
not provided|Carney complex, type 1|PRKAR1A-related disorder|Acrodysostosis 1 with or without hormone resistance|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 16
NM_002734.5(PRKAR1A):c.569G>A (p.Trp190Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 190
NM_002734.5(PRKAR1A):c.221_230del (p.Arg74fs)Pathogenic
Carney complex, type 1
★★☆☆2025→ Residue 74
NM_002734.5(PRKAR1A):c.891+3A>GLikely pathogenic
Carney complex, type 1|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)Likely pathogenic
Acrodysostosis 1 with or without hormone resistance|Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma;Pigmented nodular adrenocortical disease, primary, 1|not provided|Carney complex, type 1|Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
★★☆☆2025→ Residue 335
NM_002734.5(PRKAR1A):c.549+1G>APathogenic
Carney complex, type 1|not provided
★★☆☆2025
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)Pathogenic
Acrodysostosis 1 with or without hormone resistance|not provided|Carney complex, type 1|Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance;Carney complex|PRKAR1A-related disorder
★★☆☆2025→ Residue 368
NM_002734.5(PRKAR1A):c.892-2A>GPathogenic
not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025
NM_002734.5(PRKAR1A):c.891+1G>ALikely pathogenic
PRKAR1A-related disorder|Carney complex, type 1;Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma|Carney complex, type 1
★★☆☆2025
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs)Pathogenic
Carney complex|not provided|Carney complex, type 1
★★☆☆2025→ Residue 208
NM_002734.5(PRKAR1A):c.957del (p.Pro320fs)Pathogenic
not provided|Carney complex, type 1
★★☆☆2024→ Residue 320
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)Pathogenic
Carney complex, type 1|not provided
★★☆☆2024→ Residue 1
NM_002734.5(PRKAR1A):c.806A>G (p.Asp269Gly)Pathogenic
not provided|Carney complex, type 1
★★☆☆2024→ Residue 269
NM_002734.5(PRKAR1A):c.672G>A (p.Trp224Ter)Pathogenic
not provided|Carney complex, type 1
★★☆☆2024→ Residue 224
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)Pathogenic
Carney complex, type 1|Hereditary cancer-predisposing syndrome
★★☆☆2023→ Residue 311
NM_002734.5(PRKAR1A):c.502+1G>APathogenic
Carney complex, type 1|Hereditary cancer-predisposing syndrome|not provided
★★☆☆2023
NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter)Pathogenic
Carney complex, type 1|not provided
★★☆☆2023→ Residue 42
NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs)Pathogenic
Carney complex, type 1|not provided
★★☆☆2022→ Residue 271
View on ClinVar ↗
Related Genes
ALKProtein interaction99%GNASProtein interaction99%AKAP4Protein interaction96%GPR161Protein interaction94%PRKXProtein interaction94%AKAP10Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Brain
75%
Ovary
29%
Lung
29%
Liver
22%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
PRKAR1AALKGNASAKAP4GPR161PRKXAKAP10
PROTEIN STRUCTURE
Preparing viewer…
PDB5KJZ · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.16Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.03–0.16]
RankingsWhere PRKAR1A stands among ~20K protein-coding genes
  • #909of 20,598
    Most Researched349 · top 5%
  • #671of 5,498
    Most Pathogenic Variants116 · top quartile
  • #239of 17,882
    Most Constrained (LOEUF)0.16 · top 5%
Genes detectedPRKAR1A
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Diagnostic Pathology of Tumors of Peripheral Nerve.
PMID: 33588442
Neurosurgery · 2021
1.00
2
Carney Complex.
PMID: 30428497
Exp Clin Endocrinol Diabetes · 2019
0.90
3
PMID: 20301463
0.80
4
Superficial Angiomyxoma Revisited.
PMID: 40877161
In Vivo · 2025
0.76
5
PMID: 34359735
Cancers (Basel) · 2021
0.70