Gene Gene information from NCBI Gene database.
Entrez ID 5593
Gene name Protein kinase cGMP-dependent 2
Gene symbol PRKG2
Synonyms (NCBI Gene)
AMD4PKG2PRKGR2SMDPcGK2cGKII
Chromosome 4
Chromosome location 4q21.21
Summary 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 secr
miRNA miRNA information provided by mirtarbase database.
122
miRTarBase ID miRNA Experiments Reference
MIRT018075 hsa-miR-335-5p Microarray 18185580
MIRT023857 hsa-miR-1-3p Microarray 18668037
MIRT618399 hsa-miR-548a-5p HITS-CLIP 23824327
MIRT618398 hsa-miR-548ab HITS-CLIP 23824327
MIRT618397 hsa-miR-548ad-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 8607838
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004692 Function CGMP-dependent protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601591 9416 ENSG00000138669
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13237
Protein name cGMP-dependent protein kinase 2 (cGK 2) (cGK2) (EC 2.7.11.12) (cGMP-dependent protein kinase II) (cGKII)
Protein 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 d
PDB 5BV6 , 5C6C , 5C8W , 5JIX , 5JIZ , 6BQ8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00027 cNMP_binding 186 269 Cyclic nucleotide-binding domain Domain
PF00027 cNMP_binding 304 393 Cyclic nucleotide-binding domain Domain
PF00069 Pkinase 453 711 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly concentrated in brain, lung and intestinal mucosa.
Sequence
MGNGSVKPKHSKHPDGHSGNLTTDALRNKVTELERELRRKDAEIQEREYHLKELREQLSK
QTVAIAELTEELQNKCIQLNKLQDVVHMQGGSPLQASPDKVPLEVHRKTSGLVSLHSRRG
AKAGVSAEPTTRTYDLNKPPEFSFEKARVRKDSSEKKLITDALNKNQFLKRLDPQQIKDM
VECMYGRNYQQGSYIIKQGEPGNHIFVLAEGRLEVFQGEKLLSSIPMWTTFGELAILYNC
TRTASVKAITNVKTWALDREVFQNIMRRT
AQARDEQYRNFLRSVSLLKNLPEDKLTKIID
CLEVEYYDKGDYIIREGEEGSTFFILAKGKVKVTQSTEGHDQPQLIKTLQKGEYFGEKAL
ISDDVRSANIIAEENDVACLVIDRETFNQTVGT
FEELQKYLEGYVANLNRDDEKRHAKRS
MSNWKLSKALSLEMIQLKEKVARFSSSSPFQNLEIIATLGVGGFGRVELVKVKNENVAFA
MKCIRKKHIVDTKQQEHVYSEKRILEELCSPFIVKLYRTFKDNKYVYMLLEACLGGELWS
ILRDRGSFDEPTSKFCVACVTEAFDYLHRLGIIYRDLKPENLILDAEGYLKLVDFGFAKK
IGSGQKTWTFCGTPEYVAPEVILNKGHDFSVDFWSLGILVYELLTGNPPFSGVDQMMTYN
LILKGIEKMDFPRKITRRPEDLIRRLCRQNPTERLGNLKNGINDIKKHRWL
NGFNWEGLK
ARSLPSPLQRELKGPIDHSYFDKYPPEKGMPPDELSGWDKDF
Sequence length 762
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway
Hormone signaling
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Long-term depression
Olfactory transduction
Regulation of lipolysis in adipocytes
Renin secretion
Salivary secretion
  Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
cGMP effects
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acromesomelic dysplasia 4 Pathogenic; Likely pathogenic rs1291510415, rs2110087773, rs2546101657, rs995285513 RCV001786318
RCV001786319
RCV003228231
RCV003228694
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylometaphyseal dysplasia, pagnamenta type Pathogenic rs2109933573 RCV001786320
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromesomelic dysplasia Acromesomelic dysplasia Pubtator 33887582 Associate
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 19543319
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 19543319 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 22556146, 29028532
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 23233742 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 29587280
★☆☆☆☆
Found in Text Mining only
Epilepsy, Temporal Lobe Epilepsy BEFREE 29587280
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 19543319
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 19543319 Associate
★☆☆☆☆
Found in Text Mining only