Gene Facts External Data Attribution

HGNC Symbol
PRKG1 (HGNC:9414) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
protein kinase cGMP-dependent 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PRKGR1B, PRKG1B
Alias symbols
PGK, PKG, PKG1
%HI
1.27(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.24(Read more about gnomAD LOEUF score)
Cytoband
10q11.23-q21.1
Genomic Coordinates
GRCh37/hg19: chr10:52750648-54058110 NCBI Ensembl UCSC
GRCh38/hg38: chr10:50990888-52298350 NCBI Ensembl UCSC
MANE Select Transcript
NM_006258.4 ENST00000373980.11 (Read more about MANE Select)
Function
Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contrac... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28397
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)