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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BAX
BCL2 associated X, apoptosis regulator
Chromosome 19 Β· 19q13.33
NCBI Gene: 581Ensembl: ENSG00000087088.21HGNC: HGNC:959UniProt: I6LPK7
1,121PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisHub GeneTumor Suppressor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial outer membraneprotein bindinglipid bindingchannel activityT-cell acute lymphoblastic leukemiacolon carcinomaneurodegenerative diseaseendometrial carcinoma
✦AI Summary

BAX (BCL2-associated X protein) is a pro-apoptotic executor that regulates mitochondrial outer membrane permeabilization (MOM) and cell death 1. Under physiological conditions, BAX remains largely cytosolic through continuous retrotranslocation from mitochondria mediated by anti-apoptotic proteins like BCL2L1, preventing accumulation at the MOM 1. Upon stress signals, BAX undergoes conformational changes and translocates to mitochondria, where it oligomerizes with BAK to form apoptotic pores that release cytochrome c, triggering caspase-3 activation and apoptosis 2. BAX and BAK display distinct oligomerization kinetics, with BAK assembling rapidly into smaller structures while recruiting and accelerating BAX into progressively larger pores; this coordinated assembly determines mitochondrial content release rates, including mtDNA, affecting downstream inflammatory signaling 2. Dysregulation of BAX expression has significant clinical implications: reduced BAX expression correlates with aneuploidy in preimplantation embryos 3, while elevated BAX expression associates with poor prognosis across multiple cancer types and correlates with immune infiltration and immunotherapy efficacy 4. BAX function requires coordination with VDAC2, which can either inhibit or facilitate BAX activity depending on cellular context 5. These characteristics position BAX as both a critical homeostatic regulator and a promising therapeutic target for cancer and apoptosis-related diseases.

Sources cited
1
BAX permeabilizes the mitochondrial outer membrane as a critical executioner of mitochondrial-regulated cell death; regulatory surfaces control BAX activation
PMID: 34848097
2
BAX and BAK display distinct oligomerization properties with different kinetics; they co-assemble into apoptotic pores with growth rates determining mitochondrial content release including mtDNA
PMID: 35120587
3
BAX expression levels are 1.5-fold lower in aneuploid embryos compared to euploid embryos, suggesting involvement in aneuploidy mechanisms
PMID: 37994469
4
BAX is highly expressed in most cancers, associates with poor prognosis in nine cancer types, and correlates with immune infiltration and immunotherapy efficacy
PMID: 39074253
5
VDAC2 interaction with BAX and BAK differentially regulates their apoptotic activity; small molecules can modulate these interactions with therapeutic potential
PMID: 40043112
Disease Associationsβ“˜20
T-cell acute lymphoblastic leukemiaOpen Targets
0.46Moderate
colon carcinomaOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.38Weak
endometrial carcinomaOpen Targets
0.38Weak
colon adenocarcinomaOpen Targets
0.37Weak
gastric adenocarcinomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
endometrium adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
Duodenal AdenocarcinomaOpen Targets
0.37Weak
gastric intestinal type adenocarcinomaOpen Targets
0.37Weak
chronic lymphocytic leukemiaOpen Targets
0.30Weak
acute myeloid leukemiaOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.30Weak
urinary bladder carcinomaOpen Targets
0.29Weak
non-small cell lung carcinomaOpen Targets
0.29Weak
head and neck squamous cell carcinomaOpen Targets
0.29Weak
small cell lung carcinomaOpen Targets
0.28Weak
Pathogenic Variants4
NM_138761.4(BAX):c.474+50_474+63delLikely pathogenic
Developmental and epileptic encephalopathy, 5
β˜…β˜†β˜†β˜†2025
NM_138761.4(BAX):c.199G>A (p.Gly67Arg)Pathogenic
T-cell acute lymphoblastic leukemia
β˜†β˜†β˜†β˜†1998β†’ Residue 67
NM_138761.4(BAX):c.115_121del (p.Gly39fs)Pathogenic
T-cell acute lymphoblastic leukemia
β˜†β˜†β˜†β˜†1998β†’ Residue 39
NM_138761.4(BAX):c.121del (p.Glu41fs)Pathogenic
Carcinoma of colon
β˜†β˜†β˜†β˜†1997β†’ Residue 41
View on ClinVar β†—
Related Genes
VDAC1Protein interaction100%SFNProtein interaction100%BCL2L2Protein interaction99%CASP8Protein interaction99%HK1Protein interaction98%HK3Protein interaction97%
Tissue Expression6 tissues
Lung
100%
Liver
49%
Bone Marrow
42%
Ovary
35%
Brain
27%
Heart
22%
Gene Interaction Network
Click a node to explore
BAXVDAC1SFNBCL2L2CASP8HK1HK3
PROTEIN STRUCTURE
Preparing viewer…
PDB4ZIE Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.61–1.25]
RankingsWhere BAX stands among ~20K protein-coding genes
  • #132of 20,598
    Most Researched1,121 Β· top 1%
  • #3,661of 5,498
    Most Pathogenic Variants4
  • #13,132of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedBAX
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Physiological and pharmacological modulation of BAX.
PMID: 34848097
Trends Pharmacol Sci Β· 2022
1.00
2
The interplay between BAX and BAK tunes apoptotic pore growth to control mitochondrial-DNA-mediated inflammation.
PMID: 35120587
Mol Cell Β· 2022
0.90
3
Loss of Concurrent Regulation of the Expression of BIF-1, BAX, and Beclin-1 in Primary and Metastatic Melanoma.
PMID: 33202207
Biochemistry (Mosc) Β· 2020
0.84
4
bcl-2/bax expression and p53 gene status in human bladder cancer: relationship to early recurrence with intravesical chemotherapy after resection.
PMID: 9817315
J Urol Β· 1998
0.82
5
Investigation of
PMID: 37994469
Zygote Β· 2023
0.80