BNIP2 Gene - BCL2 Interacting Protein 2
Comprehensive genomic and functional overview of BNIP2, a member of the BCL2/adenovirus E1B 19 kDa protein-interacting protein family.
Gene Information Card
| Symbol | BNIP2 |
|---|---|
| Full Name | BCL2 interacting protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 663 ncbi.nlm.nih.gov/gene/663 |
| Ensembl ID | ENSG00000137869 |
| UniProt ID | Q12982 |
| OMIM ID | 603292 |
| HGNC ID | 1082 |
| Aliases | BNIP-2, NIP2, BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 |
Description
BNIP2 (BCL2 interacting protein 2) is a protein-coding gene located on chromosome 15q22.31. It encodes a member of the BCL2/adenovirus E1B 19 kDa protein-interacting protein family. The protein interacts with BCL2 and related proteins, playing a role in apoptosis regulation, cell cycle control, and cellular stress responses. BNIP2 is widely expressed in various tissues and is implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | BNIP2 overexpression may promote apoptosis resistance via BCL2 interaction | PMID: 12058025 |
| Colorectal cancer | Downregulation of BNIP2 associated with tumor progression | PMID: 19165231 |
| Huntington disease | BNIP2 interacts with huntingtin protein, modulating toxicity | PMID: 12446718 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Liver | 4.1 | Low |
| Lung | 7.8 | Medium |
| Kidney | 5.3 | Medium |
| Testis | 9.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | High expression in embryonic kidney cells |
| HeLa | 7.2 | Moderate expression in cervical cancer cells |
| MCF7 | 6.8 | Moderate expression in breast cancer cells |
| HepG2 | 4.9 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1022G>A (p.Arg341Gln) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| c.1345_1346insA (p.Thr449AsnfsTer5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr449AsnfsTer5) are predicted to truncate the protein, leading to loss of BCL2 interaction and pro-apoptotic function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BNIP2.
Dominant Negative (DN)
No evidence for dominant-negative effects in BNIP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
• BCL2 family protein interactions (Reactome: R-HSA-109581)
Protein Summary
BNIP2 encodes a 314-amino acid protein (UniProt Q12982) that contains a BCL2 homology domain (BH3) and a C-terminal transmembrane domain. It localizes to the cytoplasm and mitochondria, where it interacts with BCL2 and BCL-XL to modulate apoptosis. BNIP2 also binds to huntingtin (HTT) and may influence neurodegeneration. The protein is expressed in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BNIP2 Knockout HEK293 Cell Line | EDJ-KQ4141 | Human | 663 | Details Get a Quote |
| BNIP2 Knockout HeLa Cell Line | EDJ-KQ25236 | Human | 663 | Details Get a Quote |
| BNIP2 Knockout A-549 Cell Line | EDJ-KQ26570 | Human | 663 | Details Get a Quote |
| BNIP2 Knockout HCT 116 Cell Line | EDJ-KQ26571 | Human | 663 | Details Get a Quote |
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