BIK (BCL2 Interacting Killer)
Apoptosis Regulator Gene
Gene Information Card
| Symbol | BIK |
|---|---|
| Full Name | BCL2 Interacting Killer |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 638 ncbi.nlm.nih.gov/gene/638 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q13323 |
| OMIM ID | 603395 |
| HGNC ID | 1051 |
| Aliases | NBK, BP4, BIP1 |
Description
BIK (BCL2 Interacting Killer) is a pro-apoptotic BH3-only protein that promotes cell death by binding to and neutralizing anti-apoptotic BCL2 family members. It is involved in the intrinsic apoptosis pathway and is frequently silenced in various cancers via DNA methylation or deletion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Epigenetic silencing or deletion of BIK reduces apoptosis, promoting tumor survival | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | Reduced BIK expression correlates with poor prognosis | NCBI Gene, PubMed |
| Breast cancer | BIK promoter hypermethylation leads to loss of pro-apoptotic function | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Breast | 6.3 | Low |
| Colon | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney |
| HepG2 | 11.4 | Hepatocellular carcinoma |
| A549 | 9.2 | Lung carcinoma |
| MCF7 | 5.8 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Unknown significance |
| c.200_201del | Frameshift | <0.1% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in BIK are predicted to cause loss of pro-apoptotic function, contributing to cancer development.
Gain of Function (GOF)
No gain-of-function mutations reported in BIK.
Dominant Negative (DN)
No dominant-negative mutations reported in BIK.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intrinsic Apoptosis Pathway
• BCL2 Family Interactions
• p53-Independent Apoptosis
Protein Summary
BIK is a 160-amino acid BH3-only protein localized to the endoplasmic reticulum and mitochondria. It induces apoptosis by binding to anti-apoptotic proteins such as BCL2 and BCL-XL, displacing pro-apoptotic effectors like BAX and BAK. BIK is a key mediator of cell death in response to cellular stress and is frequently silenced in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIK Knockout HEK293 Cell Line | EDJ-KQ4135 | Human | 638 | Details Get a Quote |
| BIK Knockout A-549 Cell Line | EDJ-KQ25222 | Human | 638 | Details Get a Quote |
| BIK Knockout HCT 116 Cell Line | EDJ-KQ26560 | Human | 638 | Details Get a Quote |
| BIK Knockout HeLa Cell Line | EDJ-KQ52720 | Human | 638 | Details Get a Quote |
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