Gene: BNIP1

Alternate names for this Gene: NIP1|SEC20|TRG-8

Gene Summary: This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.1

Description of this Gene: BCL2 interacting protein 1

Type of Gene: protein-coding

rs255292 in BNIP1 gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

rs255303 in BNIP1 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs255291 in BNIP1 gene and Pyloric Stenosis, Hypertrophic PMID 22306654 2012 Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.