PRKG2 Chromosome 4
Protein kinase cGMP-dependent 2
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What This Gene Does
This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]
Gene Info
Gene Group
Protein kinase G family
Locus Type
gene with protein product
Location
4q21.21
Ensembl
ENSG00000138669
Associated Conditions (3)
Acromesomelic dysplasia 4
Spondylometaphyseal dysplasia
pagnamenta type
Key Variants
RS2546101657
Likely pathogenic
Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
Health Risk
RS1291510415
Pathogenic
Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
Health Risk
RS2109933573
Pathogenic
Spondylometaphyseal dysplasia, pagnamenta type, Spondylometaphyseal dysplasia
Health Risk
RS2110087773
Pathogenic
Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
Health Risk
RS755949821
Pathogenic
Health Risk
RS781506018
Pathogenic
Health Risk
RS995285513
Pathogenic
Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2546101657 | Health Risk | Likely pathogenic | Acromesomelic dysplasia 4, Acromesomelic dysplasia 4 |
| RS1291510415 | Health Risk | Pathogenic | Acromesomelic dysplasia 4, Acromesomelic dysplasia 4 |
| RS2109933573 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia, pagnamenta type, Spondylometaphyseal dysplasia |
| RS2110087773 | Health Risk | Pathogenic | Acromesomelic dysplasia 4, Acromesomelic dysplasia 4 |
| RS755949821 | Health Risk | Pathogenic | — |
| RS781506018 | Health Risk | Pathogenic | — |
| RS995285513 | Health Risk | Pathogenic | Acromesomelic dysplasia 4, Acromesomelic dysplasia 4 |