Gene: PRRG2

Alternate names for this Gene: PRGP2

Gene Summary: The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: proline rich and Gla domain 2

Type of Gene: protein-coding

Gene: NOSIP

Alternate names for this Gene: CGI-25

Gene Summary: The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: nitric oxide synthase interacting protein

Type of Gene: protein-coding

rs552708909 in PRRG2;NOSIP gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs111544199 in PRRG2;NOSIP gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.