BNIP3

Chr 10

BCL2 interacting protein 3

Also known as: HABON, NIP3

NCBI Gene: 664 ENSG00000176171 UniProt: Q12983

This gene encodes a mitochondrial pro-apoptotic protein that induces cell death by overcoming BCL2 suppression and participates in mitochondrial quality control by facilitating degradation of damaged mitochondrial proteins. The gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.46), suggesting loss of function is well-tolerated in the general population. No established Mendelian diseases have been definitively linked to BNIP3 mutations in the pediatric population.

ResearchSummary from RefSeq, UniProt

This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]

ResearchGenerating clinical summary…

Active trials

392

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.46

LOEUF

Multiple*

Mechanism· predicted