PRKG2 (Protein Kinase cGMP-Dependent 2)
A key regulator of cGMP signaling in smooth muscle, bone growth, and cancer.
Gene Information Card
| Symbol | PRKG2 |
|---|---|
| Full Name | Protein Kinase cGMP-Dependent 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 5593 ncbi.nlm.nih.gov/gene/5593 |
| Ensembl ID | ENSG00000138669 |
| UniProt ID | Q13237 |
| OMIM ID | 601591 |
| HGNC ID | 9417 |
| Aliases | PKG2, cGKII, PRKGR2 |
Description
PRKG2 encodes cGMP-dependent protein kinase 2 (PKG2), a serine/threonine kinase that mediates cellular responses to cGMP. It is involved in smooth muscle relaxation, bone growth regulation, and intestinal secretion. Mutations and altered expression are linked to various cancers and skeletal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | PRKG2 acts as a tumor suppressor; loss of expression promotes proliferation and metastasis. | PMID: 25652263 |
| Gastric Cancer | Downregulation of PRKG2 correlates with poor prognosis and increased invasion. | PMID: 29367642 |
| Acromesomelic Dysplasia, Maroteaux Type | Homozygous mutations in PRKG2 impair cGMP signaling, leading to skeletal abnormalities. | OMIM: 602875 |
| Hepatocellular Carcinoma | PRKG2 hypermethylation silences expression, contributing to tumor growth. | PMID: 28411376 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.7 | Medium |
| Liver | 6.2 | Low |
| Lung | 9.1 | Low |
| Skeletal Muscle | 4.8 | Low |
| Small Intestine | 22.4 | High |
| Spleen | 7.0 | Low |
| Stomach | 18.9 | High |
| Testis | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HCT116 | 25.6 | Colorectal carcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 5.4 | Lung carcinoma cell line |
| HEK293 | 14.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1183C>T (p.Arg395*) | Nonsense | Rare | Loss of function; associated with acromesomelic dysplasia |
| c.1526G>A (p.Arg509His) | Missense | Rare | Impaired kinase activity; skeletal dysplasia |
| c.1942C>T (p.Arg648Trp) | Missense | Rare | Reduced cGMP binding; skeletal dysplasia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in the kinase domain reduce or abolish catalytic activity, leading to skeletal dysplasia.
Gain of Function (GOF)
Not reported in PRKG2.
Dominant Negative (DN)
Not reported in PRKG2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• Vascular smooth muscle contraction (KEGG: hsa04270)
• Oxytocin signaling pathway (KEGG: hsa04921)
Protein Summary
PRKG2 encodes a 762-amino acid protein (PKG2) with an N-terminal regulatory domain containing two cGMP-binding sites and a C-terminal catalytic serine/threonine kinase domain. PKG2 is activated by cGMP binding, leading to phosphorylation of downstream targets involved in ion transport, gene expression, and cytoskeletal dynamics. It is highly expressed in intestinal epithelium and brain, and its loss is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKG2 Knockout HEK293 Cell Line | EDJ-KQ1842 | Human | 5593 | Details Get a Quote |
| PRKG2 Knockout HeLa Cell Line | EDJ-KQ20388 | Human | 5593 | Details Get a Quote |
| PRKG2 Knockout A-549 Cell Line | EDJ-KQ21697 | Human | 5593 | Details Get a Quote |
| PRKG2 Knockout HCT 116 Cell Line | EDJ-KQ21698 | Human | 5593 | Details Get a Quote |
