GENETIC ENCYCLOPEDIA
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gene: BNIP1

id662
symbolBNIP1
organismHomo sapiens
full nameBCL2 interacting protein 1
summaryThis 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. [provided by RefSeq, Mar 2011]
variant-disease

GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1 AND See cases

GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1 AND See cases

GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 AND See cases

GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 AND Atrial septal defect 7 with or without atrioventricular conduction defects

GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 AND See cases

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