PRKG2

PRKG2 (Protein Kinase CGMP-Dependent 2) is a protein coding gene. Diseases associated with PRKG2 include Chromosome 4Q21 Deletion Syndrome and Mast-Cell Sarcoma. Among its related pathways are NO-dependent CFTR activation (normal and CF) and Gap junction. Gene Ontology annotations related to this gene include protein homodimerization activity and protein kinase activity.

Full Name

Protein Kinase CGMP-Dependent 2

Function

Crucial regulator of intestinal secretion and bone growth. Phosphorylates and activates CFTR on the plasma membrane. Plays a key role in intestinal secretion by regulating cGMP-dependent translocation of CFTR in jejunum (PubMed:33106379).
Acts downstream of NMDAR to activate the plasma membrane accumulation of GRIA1/GLUR1 in synapse and increase synaptic plasticity. Phosphorylates GRIA1/GLUR1 at Ser-863 (By similarity).
Acts as regulator of gene expression and activator of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2 in mechanically stimulated osteoblasts. Under fluid shear stress, mediates ERK activation and subsequent induction of FOS, FOSL1/FRA1, FOSL2/FRA2 and FOSB that play a key role in the osteoblast anabolic response to mechanical stimulation (By similarity).

Biological Process

Negative regulation of chloride transportIEA:Ensembl
Negative regulation of chondrocyte proliferationIEA:Ensembl
Peptidyl-serine autophosphorylationIEA:Ensembl
Protein localization to plasma membraneIEA:Ensembl
Protein phosphorylationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of chondrocyte differentiationIEA:Ensembl
Signal transductionManual Assertion Based On ExperimentIMP:UniProtKB
Tetrahydrobiopterin metabolic processTAS:Reactome

Cellular Location

Apical cell membrane

Involvement in disease

Spondylometaphyseal dysplasia, Pagnamenta type (SMDP):
A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present.
Acromesomelic dysplasia 4 (AMD4):
A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive.

PTM

Myristoylation mediates membrane localization.