HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRKG1
protein kinase cGMP-dependent 1
Chromosome 10 · 10q11.23-q21.1
NCBI Gene: 5592Ensembl: ENSG00000185532.20HGNC: HGNC:9414UniProt: B1ALS0
188PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of platelet aggregationnegative regulation of vascular associated smooth muscle cell proliferationnegative regulation of vascular associated smooth muscle cell migrationcytoplasmfamilial thoracic aortic aneurysm and aortic dissectionRare genetic vascular diseaseRare disease with thoracic aortic aneurysm and aortic dissectionsmoking initiation
✦AI Summary

PRKG1 (protein kinase cGMP-dependent 1) is a serine/threonine protein kinase that functions as a central mediator of the nitric oxide (NO)/cGMP signaling pathway. Upon cGMP binding, PRKG1 phosphorylates multiple cellular targets to regulate diverse physiological processes including vascular smooth muscle relaxation, platelet inhibition, and cardiac function. The kinase modulates intracellular calcium through multiple mechanisms: phosphorylating IRAG1 to inhibit IP3-induced calcium release, activating potassium channels (KCNMA1), and inactivating transient receptor potential channels [UniProt]. PRKG1 also phosphorylates RhoA to suppress smooth muscle contraction and regulates vasodilator-stimulated phosphoprotein (VASP) in platelets and smooth muscle. Beyond vascular physiology, PRKG1 influences gene expression and neurological processes including axon guidance and learning [UniProt]. Genetically, PRKG1 variants associate with multiple disease states. Pathogenic variants cause familial thoracic aortic aneurysm (FTAA), with PRKG1 mutations conferring higher risk of type A and B aortic dissection compared to elective surgery 1. Loss-of-function PRKG1 variants contribute to heritable thoracic aortic disease, detected through copy-number variation analysis 2. Conversely, PRKG1 exhibits context-dependent roles in cancer: elevated PRKG1 expression blocks myogenic differentiation in rhabdomyosarcoma and predicts sensitivity to AKT inhibitor ipatasertib 3, while PRKG1-AS1 (an antisense RNA) promotes lung adenocarcinoma proliferation and poor prognosis 4. Additionally, PRKG1 polymorphisms associate with childhood asthma susceptibility through gene-environment interactions 5, and human PRKG1 variants correlate with behavioral phenotypes in foraging tasks 6. Therapeutic targeting via PDE5 inhibitors activating PRKG1 signaling shows promise in mitochondrial disease 7, while PRKG1 inhibition represents a potential strategy for Marfan syndrome aortopathy 8.

Sources cited
1
Pathogenic variants cause familial thoracic aortic aneurysm (FTAA), with PRKG1 mutations conferring higher risk of type A and B aortic dissection compared to elective surgery .
PMID: 36007983
2
Loss-of-function PRKG1 variants contribute to heritable thoracic aortic disease, detected through copy-number variation analysis .
PMID: 29907982
3
Conversely, PRKG1 exhibits context-dependent roles in cancer: elevated PRKG1 expression blocks myogenic differentiation in rhabdomyosarcoma and predicts sensitivity to AKT inhibitor ipatasertib , while PRKG1-AS1 (an antisense RNA) promotes lung adenocarcinoma proliferation and poor prognosis .
PMID: 41198706
4
Conversely, PRKG1 exhibits context-dependent roles in cancer: elevated PRKG1 expression blocks myogenic differentiation in rhabdomyosarcoma and predicts sensitivity to AKT inhibitor ipatasertib , while PRKG1-AS1 (an antisense RNA) promotes lung adenocarcinoma proliferation and poor prognosis .
PMID: 39984932
5
Additionally, PRKG1 polymorphisms associate with childhood asthma susceptibility through gene-environment interactions , and human PRKG1 variants correlate with behavioral phenotypes in foraging tasks .
PMID: 38193459
6
Additionally, PRKG1 polymorphisms associate with childhood asthma susceptibility through gene-environment interactions , and human PRKG1 variants correlate with behavioral phenotypes in foraging tasks .
PMID: 30782798
7
Therapeutic targeting via PDE5 inhibitors activating PRKG1 signaling shows promise in mitochondrial disease , while PRKG1 inhibition represents a potential strategy for Marfan syndrome aortopathy .
PMID: 41819105
8
Therapeutic targeting via PDE5 inhibitors activating PRKG1 signaling shows promise in mitochondrial disease , while PRKG1 inhibition represents a potential strategy for Marfan syndrome aortopathy .
PMID: 33976159
Disease Associationsⓘ21
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.69Moderate
Rare genetic vascular diseaseOpen Targets
0.46Moderate
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.38Weak
dengue diseaseOpen Targets
0.37Weak
laryngeal carcinomaOpen Targets
0.36Weak
Abruptio PlacentaeOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.31Weak
cervical carcinomaOpen Targets
0.31Weak
bone remodeling diseaseOpen Targets
0.31Weak
Hodgkins lymphomaOpen Targets
0.31Weak
TinnitusOpen Targets
0.30Weak
diverticular diseaseOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
polymyalgia rheumaticaOpen Targets
0.29Weak
male infertilityOpen Targets
0.29Weak
cutaneous melanomaOpen Targets
0.28Weak
cellulitisOpen Targets
0.28Weak
malunion fractureOpen Targets
0.27Weak
polycythemiaOpen Targets
0.27Weak
Aortic aneurysm, familial thoracic 8UniProt
Pathogenic Variants1
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)Pathogenic
Aortic aneurysm, familial thoracic 8|not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 192
View on ClinVar ↗
Related Genes
KCNU1Protein interaction98%VASPProtein interaction98%RGS2Protein interaction97%SLC8A3Protein interaction96%PDE5AProtein interaction95%PPP1R12AProtein interaction94%
Tissue Expression6 tissues
Heart
100%
Lung
38%
Brain
18%
Ovary
16%
Liver
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
PRKG1KCNU1VASPRGS2SLC8A3PDE5APPP1R12A
PROTEIN STRUCTURE
Preparing viewer…
PDB7MBJ · 1.26 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.66Intermediate
Observed/Expected LoF0.39 [0.29–0.53]
RankingsWhere PRKG1 stands among ~20K protein-coding genes
  • #2,282of 20,598
    Most Researched188 · top quartile
  • #4,734of 5,498
    Most Pathogenic Variants1
  • #3,359of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedPRKG1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Association between
PMID: 38193459
J Asthma · 2024
1.00
2
Self-regulation and the
PMID: 30782798
Proc Natl Acad Sci U S A · 2019
0.90
3
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.
PMID: 41819105
Cell · 2026
0.80
4
PRKG1 hinders myogenic differentiation and predicts response to AKT inhibitor ipatasertib in Rhabdomyosarcoma.
PMID: 41198706
Nat Commun · 2025
0.70
5
Calcium channel blockers increase the risk of aortic aneurysm and dissection.
PMID: 41444229
Nat Commun · 2025
0.68