Gene: NIPSNAP2

Alternate names for this Gene: GBAS

Gene Summary: This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7p11.2

Description of this Gene: nipsnap homolog 2

Type of Gene: protein-coding

rs4535700 in NIPSNAP2 gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs4689 in NIPSNAP2 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs4535700 in NIPSNAP2 gene and Serine measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs35844144 in NIPSNAP2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.