PRKG2
entrez
5593
canonical
uniprot
Q13237
canonical
ensembl
ENSG00000138669
resolver
ensp
ENSP00000264399
resolver
ensp
ENSP00000378945
resolver
ensp
ENSP00000486129
resolver
ensp
ENSP00000523096
resolver
ensp
ENSP00000523098
resolver
ensp
ENSP00000699640
resolver
genesymbol
PRKG2
resolver
genesymbol_syn
PRKGR2
resolver
hgnc
HGNC:9416
resolver
uniprot
A0A140VJM3
resolver
uniprot
B4DLF9
resolver
uniprot
B4DMX3
resolver
uniprot
B7ZA25
resolver
uniprot
E7EPE6
resolver
uniprot
O00125
resolver
uniprot
O60916
resolver
uniprot_entry
A0A140VJM3_HUMAN
resolver
uniprot_entry
B4DLF9_HUMAN
resolver
uniprot_entry
B7ZA25_HUMAN
resolver
uniprot_entry
KGP2_HUMAN
resolver
uniprot_sec
B4DMX3
resolver
uniprot_sec
E7EPE6
resolver
uniprot_sec
O00125
resolver
uniprot_sec
O60916
resolver
activity_regulation
ACTIVITY REGULATION: Binding of cGMP results in enzyme activation. {ECO:0000269|PubMed:26769964}.
uniprot
proteins
amino_acid_sequence
MGNGSVKPKHSKHPDGHSGNLTTDALRNKVTELERELRRKDAEIQEREYHLKELREQLSKQTVAIAELTEELQNKCIQLNKLQDVVHMQGGSPLQASPDKVPLEVHRKTSGLVSLHSRRGAKAGVSAEPTTRTYDLNKPPEFSFEKARVRKDSSEKKLITDALNKNQFLKRLDPQQIKDMVECMYGRNYQQGSYIIKQGEPGNHIFVLAEGRLEVFQGEKLLSSIPMWTTFGELAILYNCTRTASVKAITNVKTWALDREVFQNIMRRTAQARDEQYRNFLRSVSLLKNLPEDKLTKIIDCLEVEYYDKGDYIIREGEEGSTFFILAKGKVKVTQSTEGHDQPQLIKTLQKGEYFGEKALISDDVRSANIIAEENDVACLVIDRETFNQTVGTFEELQKYLEGYVANLNRDDEKRHAKRSMSNWKLSKALSLEMIQLKEKVARFSSSSPFQNLEIIATLGVGGFGRVELVKVKNENVAFAMKCIRKKHIVDTKQQEHVYSEKRILEELCSPFIVKLYRTFKDNKYVYMLLEACLGGELWSILRDRGSFDEPTSKFCVACVTEAFDYLHRLGIIYRDLKPENLILDAEGYLKLVDFGFAKKIGSGQKTWTFCGTPEYVAPEVILNKGHDFSVDFWSLGILVYELLTGNPPFSGVDQMMTYNLILKGIEKMDFPRKITRRPEDLIRRLCRQNPTERLGNLKNGINDIKKHRWLNGFNWEGLKARSLPSPLQRELKGPIDHSYFDKYPPEKGMPPDELSGWDKDF
uniprot
proteins
disease_involvement
DISEASE: Spondylometaphyseal dysplasia, Pagnamenta type (SMDP) [MIM:619638]: 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. {ECO:0000269|PubMed:34782440}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Acromesomelic dysplasia 4 (AMD4) [MIM:619636]: 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. {ECO:0000269|PubMed:33106379, ECO:0000269|PubMed:34782440}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.12
uniprot
proteins
function
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 a 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). {ECO:0000250|UniProtKB:Q61410, ECO:0000250|UniProtKB:Q64595, ECO:0000269|PubMed:33106379}.
uniprot
proteins
mass_dalton
87432
uniprot
proteins
mutagenesis
MUTAGEN 412; /note="D->A: Reduces cGMP binding affinity; when associated with A-415."; /evidence="ECO:0000269|PubMed:26769964"; MUTAGEN 415; /note="R->A: Reduces cGMP binding affinity; when associated with A-412."; /evidence="ECO:0000269|PubMed:26769964
uniprot
proteins
post_translational_modification
PTM: Myristoylation mediates membrane localization. {ECO:0000269|PubMed:8636133}.
uniprot
proteins
protein_family
AGC Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
cGMP subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26769964
uniprot
proteins
pubmed
33106379
uniprot
proteins
pubmed
34782440
uniprot
proteins
pubmed
7498513
uniprot
proteins
pubmed
8607838
uniprot
proteins
pubmed
8636133
uniprot
proteins
pubmed
9535793
uniprot
proteins
sequence_length
762
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:8636133}; Lipid-anchor {ECO:0000269|PubMed:8636133}.
uniprot
proteins