Gene: PRKD3

Alternate names for this Gene: EPK2|PKC-NU|PKD3|PRKCN|nPKC-NU

Gene Summary: This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking.

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.2

Description of this Gene: protein kinase D3

Type of Gene: protein-coding

Gene: NDUFAF7

Alternate names for this Gene: C2orf56|MidA|PRO1853

Gene Summary: This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.2

Description of this Gene: NADH:ubiquinone oxidoreductase complex assembly factor 7

Type of Gene: protein-coding

rs72792829 in PRKD3;NDUFAF7 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.