PRKG1 Chromosome 10
Protein kinase cGMP-dependent 1
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What This Gene Does
Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Protein kinase G family"
Locus Type
gene with protein product
Location
10q11.23-q21.1
Ensembl
ENSG00000185532
Associated Conditions (4)
Aortic aneurysm
familial thoracic 8
Familial thoracic aortic aneurysm and aortic dissection
PRKG1-related disorder
Key Variants
RS140716870
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS142375882
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS146504019
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS146785168
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS149710600
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS200818051
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 8
Health Risk
RS374166820
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS374445349
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS376134488
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS74905373
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS761759814
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS767330363
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 8, Aortic aneurysm
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140716870 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS142375882 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS146504019 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS146785168 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS149710600 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS200818051 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 8 |
| RS374166820 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS374445349 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS376134488 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS74905373 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS761759814 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS767330363 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Aortic aneurysm |
| RS770812712 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS774710312 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Aortic aneurysm |
| RS775372704 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS776048746 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Aortic aneurysm |
| RS886039042 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039153 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS985916344 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515330 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 8, Familial thoracic aortic aneurysm and aortic dissection |