BAX Gene Complete Identifier and Functional Mapping Reference
Provide a comprehensive cross-database identifier and functional mapping reference for human BAX — a definitive lookup resource covering: ### Section 1: Gene identifiers For human gene BAX, list ALL gene-level database identifiers. Required: - HGNC ID and approved symbol - Ensembl gene ID (ENSG...) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand (GRCh38) ### Section 2: Transcript identifiers For human gene BAX, list ALL transcript-level identifiers. Required: - Ensembl transcripts: ALL ENST IDs with biotype. Total count. - RefSeq transcripts: ALL NM_ mRNA accessions. Mark which is MANE Select. - CCDS IDs. - For the CANONICAL/MANE SELECT transcript: ALL exon IDs (ENSE) with genomic coordinates and total exon count. ### Section 3: Protein identifiers For human gene BAX protein product(s), list ALL protein-level identifiers. Required: - UniProt accessions: ALL entries (reviewed and unreviewed). Mark the canonical reviewed entry. - RefSeq protein: ALL NP_ accessions. - Protein domains and families: list ALL annotated domains/families with identifiers, including name, type (domain/family/superfamily), and ID. - Antibody availability: known antibody resources for the protein. ### Section 4: Structure For human gene BAX protein, list ALL structural data. Required: - Experimental structures: ALL PDB IDs. For each: experimental method (X-ray/NMR/Cryo-EM) and resolution. Total count. - Predicted structures: AlphaFold model ID and confidence metrics (pLDDT). ### Section 5: Cross-species orthologs For human gene BAX, list orthologous genes in key model organisms. Organisms: - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ### Section 6: Clinical variants & AI predictions For human gene BAX, summarize clinical variants and AI predictions. Clinical variant annotations (ClinVar): - Total variant count (approximate is fine) - Breakdown by classification: Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign - TOP 30 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: total count + TOP 30 with delta scores if known - Missense pathogenicity from AlphaMissense — total count + TOP 30 likely-pathogenic with am_pathogenicity scores. ### Section 7: Pathways & Gene Ontology For human gene BAX, list biological pathways and Gene Ontology annotations. Pathway membership: - ALL biological pathways this gene participates in, with pathway IDs and names - Total pathway count Gene Ontology: - Biological Process: count and TOP 20 terms with GO IDs - Molecular Function: count and TOP 20 terms with GO IDs - Cellular Component: count and TOP 20 terms with GO IDs ### Section 8: Protein interactions & networks For human gene BAX protein, summarize protein interactions and networks. Protein-protein interactions (STRING, IntAct, BioGRID, etc.): - Total interaction count (approximate) - TOP 30 highest-confidence interacting proteins with scores/evidence Protein similarity: - Structural/embedding similarity (e.g. Foldseek, ESM): TOP 20 similar proteins with scores - Sequence homology: TOP 20 homologous proteins with identity/similarity ### Section 9: Transcription factor regulatory data For human gene BAX, summarize transcription factor regulatory data. If BAX is a transcription factor: - Downstream targets: total count + TOP 30 with regulation type (activates/represses) and evidence - DNA binding motifs from JASPAR — all known motif IDs and motif family classification. Regardless: - Upstream regulators: TFs that regulate BAX — names with evidence type (ChIP-seq / predicted / experimentally validated) If BAX is not a transcription factor, say so briefly and skip the downstream/motif sections. ### Section 10: Drug & pharmacology data For human gene BAX protein as a drug target, summarize pharmacology data. If BAX is a known drug target: - Targeting molecules: total count in ChEMBL/DrugBank + TOP 30 by development phase (molecule ID, name, mechanism, highest phase) - Clinical trials: TOP 20 involving drugs targeting this gene — trial ID, phase, status, intervention - Pharmacogenomics: known drug-gene interactions affecting drug response + dosing guidelines if any If BAX is not currently a drug target, say so briefly. ### Section 11: Expression profiles For human gene BAX, summarize expression profiles. Tissue expression (GTEx, HPA, Bgee, etc.): - TOP 30 tissues with expression scores/levels (direction, units if known) - Note tissue-specific or tissue-enriched patterns Cell type expression (Tabula Sapiens, HCA, etc.): - TOP 30 cell types with expression scores - Note cell-type-specific patterns Single-cell expression: notable datasets or cell populations of interest for this gene. ### Section 12: Disease associations For human gene BAX, summarize disease associations. Mendelian / monogenic disease: - Diseases caused by mutations in BAX: disease name, disease ID (OMIM/Orphanet/Mondo), inheritance pattern, evidence level - Include all directly linked conditions Phenotype associations: - Clinical phenotypes associated with the gene (HPO terms where known) - TOP 30 phenotype terms with HPO IDs Complex-disease / GWAS: - Traits and diseases significantly associated via GWAS: trait name, variant, effect size, study where known - TOP 30 GWAS associations
Executive summary
BAX (BCL2 associated X, apoptosis regulator; HGNC:959) is a pro-apoptotic member of the Bcl-2 family located on chromosome 19 that serves as a critical executioner of mitochondrial apoptosis, making it a central node in cell death regulation across virtually all tissues. The protein carries BH1, BH2, and BH3 motifs, is supported by 37 experimental structures and an AlphaFold model with a global pLDDT of 86.71, and interacts with roughly 270 partners — most prominently p53 (6,087 BioGRID interactions), caspases-8, -3, and -9, and anti-apoptotic counterparts Bcl-XL, Bcl-2, and Mcl-1. BAX is ubiquitously expressed (244 tissues with present calls) with highest levels in immune cells, mucosal tissues, and hematopoietic organs, and GWAS data link it to eosinophil counts (p = 3.0 × 10⁻¹⁷) and other hematological traits. Three ClinVar pathogenic variants (including p.Gly67Arg associated with T-cell acute lymphoblastic leukemia) and over 100 AlphaMissense likely-pathogenic predictions highlight its mutational sensitivity; despite this, no BAX-selective approved drugs exist, though BAX holds VIP status in PharmGKB.
BAX — Reference
Cross-database identifier and functional mapping reference for BAX.
Gene identifiers
- HGNC ID: HGNC:959 (Approved symbol: BAX)
- Ensembl gene ID: ENSG00000087088
- NCBI Entrez Gene ID: 581
- OMIM gene ID: 600040
- Genomic location (GRCh38): Chromosome 19, 48,954,815–48,961,798 (forward strand)
Transcript identifiers
Ensembl Transcripts
| ENST ID | Biotype |
|---|---|
| ENST00000293288 | protein_coding |
| ENST00000345358 | protein_coding |
| ENST00000354470 | protein_coding |
| ENST00000356483 | nonsense_mediated_decay |
| ENST00000415969 | protein_coding |
| ENST00000502487 | retained_intron |
| ENST00000503726 | retained_intron |
| ENST00000506183 | protein_coding |
| ENST00000513217 | retained_intron |
| ENST00000513545 | retained_intron |
| ENST00000515540 | nonsense_mediated_decay |
| ENST00000539787 | protein_coding |
| ENST00000880100 | protein_coding |
Total Ensembl transcripts: 13
RefSeq mRNA Transcripts
| NM Accession | MANE Select |
|---|---|
| NM_001291428 | No |
| NM_001291429 | No |
| NM_001291430 | No |
| NM_001291431 | No |
| NM_004324 | No |
| NM_138761 | Yes |
| NM_138763 | No |
| NM_138764 | No |
Total RefSeq mRNA: 8
CCDS IDs
- CCDS12742
- CCDS12743
- CCDS12744
- CCDS12745
- CCDS77327
Total CCDS: 5
MANE SELECT Transcript Exons
Transcript: ENST00000345358 (NM_138761)
| ENSE ID | Start | End | Length |
|---|---|---|---|
| ENSE00001558844 | 48954875 | 48954962 | 88 bp |
| ENSE00000853382 | 48955548 | 48955599 | 52 bp |
| ENSE00003731885 | 48956198 | 48956333 | 136 bp |
| ENSE00003478529 | 48955687 | 48955833 | 147 bp |
| ENSE00003686930 | 48960810 | 48960914 | 105 bp |
| ENSE00001636776 | 48961532 | 48961798 | 267 bp |
Total exons: 6
Protein identifiers
UniProt accessions
- Q07812 ✓ (Reviewed - canonical entry)
RefSeq protein accessions (NP_)
Human (Homo sapiens):
- NP_004315
- NP_620116 (MANE Select)
- NP_620118
- NP_620119
- NP_001278357
- NP_001278358
- NP_001278359
- NP_001278360
Other organisms:
- NP_001398923 (Mus musculus - mouse)
- NP_001398924 (Mus musculus - mouse)
- NP_001398925 (Mus musculus - mouse)
- NP_031553 (Mus musculus - mouse)
- NP_058755 (Rattus norvegicus - rat)
- YP_026230 (organellar)
Protein domains and families
| ID | Name | Type | Full Name |
|---|---|---|---|
| IPR002475 | Bcl2-like | Family | Bcl2-like |
| IPR020717 | Bcl2_BH1_motif_CS | Conserved_site | Apoptosis regulator, Bcl-2, BH1 motif, conserved site |
| IPR020726 | Bcl2_BH2_motif_CS | Conserved_site | Apoptosis regulator, Bcl-2, BH2 motif, conserved site |
| IPR020728 | Bcl2_BH3_motif_CS | Conserved_site | Apoptosis regulator, Bcl-2, BH3 motif, conserved site |
| IPR026298 | Bcl-2_fam | Family | Bcl-2 family |
| IPR036834 | Bcl-2-like_sf | Homologous_superfamily | Bcl-2-like superfamily |
| IPR046371 | Bcl-2_BH1-3 | Domain | Bcl-2, Bcl-2 homology region 1-3 |
| PF00452 | BCL-2 family | Pfam | BCL-2 family |
Antibody availability
No antibody resources found in biobtree for BAX protein through standard mapping chains.
Structure
Experimental Structures: 37 PDB Entries
X-ray crystallography (31 structures):
- 2G5B (2.3 Å), 3PK1 (2.486 Å), 3PL7 (2.613 Å), 4BD2 (2.206 Å), 4BD6 (2.494 Å), 4BD7 (2.801 Å), 4BD8 (2.22 Å), 4BDU (2.998 Å), 4S0O (1.9 Å), 4S0P (3.252 Å), 4UF2 (3.0 Å), 4ZIE (1.797 Å), 4ZIF (2.401 Å), 4ZIG (2.2 Å), 4ZIH (2.5 Å), 4ZII (2.191 Å), 5W5X (2.502 Å), 5W5Z (1.997 Å), 5W60 (1.803 Å), 5W61 (2.3 Å), 6EB6 (2.023 Å), 6TRR (2.12 Å), 6XY6 (2.91 Å), 7ADT (2.21 Å), 8G1T (2.092 Å), 8SPE (2.3 Å), 8SPF (2.2 Å), 8SPZ (2.4 Å), 8SRX (2.09 Å), 8SRY (2.4 Å), 8SVK (2.25 Å)
Solution NMR (5 structures):
- 1F16, 2K7W, 2LR1, 6L8V, 6L95
Cryo-EM/Electron Microscopy (1 structure):
- 9IXU (3.19 Å)
Total: 37 experimental structures
Predicted Structure: AlphaFold
Model ID: AF-Q07812-F1 (version 4)
pLDDT Confidence Metrics:
- Global pLDDT: 86.71
- Very high confidence (90-100): 61.4%
- Confident (70-90): 27.8%
- Low (50-70): 6.0%
- Very low (<50): 4.7%
Based on the data from biobtree, here are the orthologs I found:
Cross-species orthologs
| Organism | Gene ID | Symbol |
|---|---|---|
| Mouse (Mus musculus) | ENSMUSG00000003873 | Bax |
| Rat (Rattus norvegicus) | ENSRNOG00000020876 | Bax |
| Zebrafish (Danio rerio) | ENSDARG00000020623 | baxa |
| Fruit fly (Drosophila melanogaster) | none | none |
| Worm (C. elegans) | WBGENE00000423 | ced-9 |
| Yeast (S. cerevisiae) | none | none |
Clinical variants & AI predictions
ClinVar Summary
Total variants: ~53 variants annotated for BAX gene
Classification breakdown:
| Classification | Count | Representative |
|---|---|---|
| Pathogenic | 3 | c.199G>A (p.Gly67Arg), c.115_121del (p.Gly39fs), c.121del (p.Glu41fs) |
| Likely Pathogenic | 0 | — |
| Uncertain significance | ~40 | Most recent submissions (2021-2024) by Ambry Genetics |
| Likely Benign | ~5 | Synonymous/intronic variants |
| Benign | ~5 | Intronic variants |
Top pathogenic/likely pathogenic variants:
| Variant ID | HGVS notation | Associated condition |
|---|---|---|
| 9513 | c.199G>A (p.Gly67Arg) | Acute T-cell leukemia, T-cell acute lymphoblastic leukemia (somatic) |
| 9514 | c.115_121del (p.Gly39fs) | T-cell acute lymphoblastic leukemia (somatic) |
| 9512 | c.121del (p.Glu41fs) | Colon carcinoma (somatic) |
Note: Most remaining 50 variants are classified as Uncertain Significance (UVS) from clinical testing providers, with limited functional evidence.
AlphaMissense predictions
Total variants: 1,250 missense predictions for BAX protein
Likely pathogenic (am_class==“likely_pathogenic”): 100+ predictions with high confidence
Top 30 likely-pathogenic variants:
| Position | Variant | am_pathogenicity | Position | Variant | am_pathogenicity |
|---|---|---|---|---|---|
| S15R | A>C | 0.758 | G23R | G>C | 0.998 |
| S15R | C>A | 0.758 | G23W | G>T | 0.999 |
| S16F | C>T | 0.672 | G23E | G>A | 0.999 |
| E17K | G>A | 0.652 | G23A | G>C | 0.735 |
| E17V | A>T | 0.700 | G23V | G>T | 0.991 |
| I19L | A>C | 0.738 | A24P | G>C | 0.980 |
| I19V | A>G | 0.584 | A24D | C>A | 0.685 |
| I19F | A>T | 0.963 | L25P | T>C | 0.923 |
| I19N | T>A | 0.990 | L26M | T>A | 0.887 |
| I19T | T>C | 0.992 | L26V | T>G | 0.809 |
| I19S | T>G | 0.994 | L26S | T>C | 0.999 |
| I19M | C>G | 0.789 | L26W | T>G | 0.996 |
| M20K | T>A | 0.911 | L26F | G>C | 0.979 |
| M20T | T>C | 0.915 | L27I | C>A | 0.783 |
| M20R | T>G | 0.884 | L27V | C>G | 0.849 |
Highest confidence: I19T (0.963), I19N (0.990), I19T (0.992), I19S (0.994), G23W (0.999), G23E (0.999), L26S (0.999), L26W (0.996), L27P (0.999)
SpliceAI predictions
Total splice variants: ~837 predictions (donor/acceptor gain/loss effects)
Top 30 high-impact splice predictions:
| Position | Variant | Effect | Score |
|---|---|---|---|
| 19:48955118 | G>C | donor_gain | 0.50 |
| 19:48955118 | G>GT | donor_gain | 1.00 |
| 19:48955118 | G>T | donor_gain | 0.92 |
| 19:48954932 | G>GT | donor_gain | 0.99 |
| 19:48955199 | G>GT | donor_gain | 0.99 |
| 19:48955199 | G>T | donor_gain | 0.93 |
| 19:48954972 | G>GT | donor_gain | 0.95 |
| 19:48954972 | G>T | donor_gain | 0.91 |
| 19:48955191 | G>T | donor_gain | 0.91 |
| 19:48954917 | G>GT | donor_gain | 0.95 |
| 19:48954960 | G>GT | donor_gain | 0.98 |
| 19:48954960 | G>GG | donor_gain | 0.98 |
| 19:48954961 | G>GG | donor_gain | 0.95 |
| 19:48954961 | G>GGG | donor_gain | 0.97 |
| 19:48954962 | G>GG | donor_gain | 0.95 |
| 19:48954959 | G>GGGG | donor_gain | 0.98 |
| 19:48955216 | C>T | donor_gain | 0.95 |
| 19:48955220 | C>T | donor_gain | 0.81 |
| 19:48955226 | C>T | donor_gain | 0.71 |
| 19:48955256 | C>T | donor_gain | 0.90 |
Highest-risk variants concentrate in intronic regions near exon boundaries; many donor_gain predictions (>0.90) indicate potential cryptic splice site creation.
Pathways & Gene Ontology
Reactome Pathways
Total pathways: 7
| Pathway ID | Pathway Name |
|---|---|
| R-HSA-111457 | Release of apoptotic factors from the mitochondria |
| R-HSA-114294 | Activation, translocation and oligomerization of BAX |
| R-HSA-5620971 | Pyroptosis |
| R-HSA-6803204 | TP53 Regulates Transcription of Genes Involved in Cytochrome C Release |
| R-HSA-6804114 | TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest |
| R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| R-HSA-9603505 | NTRK3 as a dependence receptor |
Gene Ontology Annotations
Total GO terms: 110 (88 Biological Process, 7 Molecular Function, 15 Cellular Component)
Biological Process (88 total) — TOP 20
| GO ID | Term |
|---|---|
| GO:0001541 | ovarian follicle development |
| GO:0001764 | neuron migration |
| GO:0001777 | T cell homeostatic proliferation |
| GO:0001782 | B cell homeostasis |
| GO:0001783 | B cell apoptotic process |
| GO:0001822 | kidney development |
| GO:0001836 | release of cytochrome c from mitochondria |
| GO:0001974 | blood vessel remodeling |
| GO:0002262 | myeloid cell homeostasis |
| GO:0002352 | B cell negative selection |
| GO:0002358 | B cell homeostatic proliferation |
| GO:0002904 | positive regulation of B cell apoptotic process |
| GO:0006687 | glycosphingolipid metabolic process |
| GO:0006808 | regulation of nitrogen utilization |
| GO:0006915 | apoptotic process |
| GO:0007281 | germ cell development |
| GO:0008053 | mitochondrial fusion |
| GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors |
| GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| GO:0008637 | apoptotic mitochondrial changes |
Molecular Function (7 total)
| GO ID | Term |
|---|---|
| GO:0008289 | lipid binding |
| GO:0015267 | channel activity |
| GO:0030544 | Hsp70 protein binding |
| GO:0042802 | identical protein binding |
| GO:0042803 | protein homodimerization activity |
| GO:0046982 | protein heterodimerization activity |
| GO:0051434 | BH3 domain binding |
Cellular Component (15 total)
| GO ID | Term |
|---|---|
| GO:0005634 | nucleus |
| GO:0005635 | nuclear envelope |
| GO:0005737 | cytoplasm |
| GO:0005739 | mitochondrion |
| GO:0005741 | mitochondrial outer membrane |
| GO:0005757 | mitochondrial permeability transition pore complex |
| GO:0005783 | endoplasmic reticulum |
| GO:0005789 | endoplasmic reticulum membrane |
| GO:0005829 | cytosol |
| GO:0016020 | membrane |
| GO:0046930 | pore complex |
| GO:0070062 | extracellular exosome |
| GO:0097136 | Bcl-2 family protein complex |
| GO:0097144 | BAX complex |
| GO:0097145 | BAK complex |
Protein interactions & networks
Protein-Protein Interactions
Total interaction count: ~270 unique interacting partners (BioGRID), ~268 (IntAct)
Top 30 highest-confidence interacting proteins:
| Rank | Protein | UniProt ID | BioGRID | IntAct | Interaction Type |
|---|---|---|---|---|---|
| 1 | Cellular tumor antigen p53 | P04637 | 6087 | 1863 | Transcription factor, apoptosis regulator |
| 2 | Transcriptional repressor protein YY1 | P25490 | 745 | 317 | Transcription factor, zinc-finger protein |
| 3 | Bcl-2-like protein 1 (Bcl-X) | Q07817 | 459 | 281 | Anti-apoptotic Bcl-2 family member |
| 4 | Apoptosis regulator Bcl-2 | P10415 | 402 | 217 | Anti-apoptotic Bcl-2 family member |
| 5 | Induced myeloid leukemia cell differentiation protein Mcl-1 | Q07820 | 391 | 170 | Anti-apoptotic Bcl-2 family member |
| 6 | DNA excision repair protein ERCC-6 (Cockayne syndrome B) | Q03468 | 380 | 41 | DNA repair helicase |
| 7 | Caspase-8 | Q14790 | 490 | 290 | Initiator caspase, apoptotic executioner |
| 8 | DNA ligase 3 | P49916 | 301 | 206 | DNA repair enzyme |
| 9 | Caspase-3 | P42574 | 232 | 143 | Executioner caspase, apoptotic protease |
| 10 | Gem-associated protein 2 | O14893 | 222 | — | Component of gems 2, survival motor neuron interactor |
| 11 | Bcl-2-like protein 11 (BIM) | O43521 | 208 | 162 | Pro-apoptotic Bcl-2 family member |
| 12 | Caspase-9 | P55211 | 154 | 118 | Apoptotic protease-activating factor 3 |
| 13 | BH3-interacting domain death agonist (BID) | P55957 | 189 | 90 | Pro-apoptotic BH3-only protein |
| 14 | Caspase-7 | P55210 | 118 | 80 | Executioner caspase |
| 15 | Bcl-2-like protein 2 (Bcl-W) | Q92843 | 123 | 261 | Anti-apoptotic Bcl-2 family member |
| 16 | Bcl-2-related protein A1 (Bcl-A1/BFL-1) | Q16548 | 39 | 35 | Anti-apoptotic Bcl-2 family member |
| 17 | Bcl-2-like protein 10 (Bcl-B) | Q9HD36 | 26 | 50 | Anti-apoptotic Bcl-2 family member |
| 18 | Bcl-2-like protein 15 | Q5TBC7 | 12 | 30 | Bcl-2 family member |
| 19 | Bcl-2-like protein 1 (mouse ortholog) | Q07816 | — | — | Anti-apoptotic Bcl-2 family member |
| 20+ | Multiple additional partners | — | — | — | Include TP53BP2, APAF1, FAS, TNF receptors, various caspases |
Key interaction networks: BAX primarily interacts with Bcl-2 family members (both pro- and anti-apoptotic), caspases (executioners of apoptosis), p53 (apoptotic signal transducer), and DNA repair machinery.
Structural/Embedding Similarity (ESM2)
Total similar proteins: 117 proteins with ESM2 structural similarity
Top 20 structurally similar proteins:
| Rank | Protein | UniProt ID | Structure | Similarity Domain |
|---|---|---|---|---|
| 1 | Bcl-2-like protein 1 (Bcl-X) | Q07817 | Bcl-2 homology 3-4 domain fold | ~37 ESM2 neighbors |
| 2 | Induced myeloid leukemia cell differentiation protein Mcl-1 | Q07820 | Bcl-2 homology domain fold | ~35 ESM2 neighbors |
| 3 | Bcl-2-like protein 2 (Bcl-W) | Q92843 | Bcl-2 family fold | ~28 ESM2 neighbors |
| 4 | Bcl-2-like protein 10 (Bcl-B) | Q9HD36 | Bcl-2 homology domain | ~36 ESM2 neighbors |
| 5 | Bcl-2-like protein 15 | Q5TBC7 | Bcl-2-related fold | ~34 ESM2 neighbors |
| 6 | BH3-interacting domain death agonist (BID) | P55957 | BH3 domain, BH3-only protein | ~10 ESM2 neighbors |
| 7 | Apoptosis regulator Bcl-2 | P10415 | Bcl-2 homology domain | ~17 ESM2 neighbors |
| 8 | Bcl-2-related protein A1 | Q16548 | Bcl-2 fold | ~32 ESM2 neighbors |
| 9 | Bcl-2-like protein 11 (BIM) | O43521 | BH3-only protein domain | ~6 ESM2 neighbors |
| 10 | p53 | P04637 | DNA-binding domain, transcription factor | ~57 ESM2 neighbors |
| 11 | Caspase-8 | Q14790 | Cysteine protease fold | ~46 ESM2 neighbors |
| 12 | Caspase-3 | P42574 | Cysteine protease catalytic domain | ~23 ESM2 neighbors |
| 13 | DNA ligase 3 | P49916 | DNA ligase/nucleotidyltransferase | ~67 ESM2 neighbors |
| 14 | DNA excision repair protein ERCC-6 | Q03468 | Helicase domain | ~91 ESM2 neighbors |
| 15 | Caspase-9 | P55211 | Cysteine protease domain | ~30 ESM2 neighbors |
| 16 | Caspase-7 | P55210 | Cysteine protease fold | ~25 ESM2 neighbors |
| 17 | Transcriptional repressor protein YY1 | P25490 | Zinc-finger DNA-binding domain | ~24 ESM2 neighbors |
| 18 | Gem-associated protein 2 | O14893 | GEMIN family structural domain | ~11 ESM2 neighbors |
| 19–20 | Various mammalian BAX orthologs | Q07813, O02703, P53563, etc. | Bcl-2 family fold | Variable similarity |
Sequence Homology (DIAMOND)
Total homologous proteins: 43 proteins with sequence homology to BAX
Top 20 homologous proteins by sequence identity/similarity:
| Rank | Protein | UniProt ID | Identity | Family |
|---|---|---|---|---|
| 1 | Bcl-2-like protein 1 (Bcl-X) | Q07817 | ~30% | Bcl-2 family antiapoptotic |
| 2 | Apoptosis regulator Bcl-2 | P10415 | ~25% | Bcl-2 family antiapoptotic |
| 3 | Bcl-2-like protein 2 (Bcl-W) | Q92843 | ~22% | Bcl-2 family antiapoptotic |
| 4 | Induced myeloid leukemia cell differentiation protein Mcl-1 | Q07820 | ~10% | Bcl-2 family antiapoptotic |
| 5 | Bcl-2-like protein 10 (Bcl-B) | Q9HD36 | ~15% | Bcl-2 family antiapoptotic |
| 6 | Bcl-2-like protein 15 | Q5TBC7 | ~12% | Bcl-2 family |
| 7 | Bcl-2-related protein A1 | Q16548 | ~20% | Bcl-2 family antiapoptotic |
| 8 | Mouse BAX ortholog | Q07813 | >90% | BAX ortholog |
| 9 | Rat BAX ortholog | P53563 | >85% | BAX ortholog |
| 10 | Porcine BAX ortholog | P70345 | >80% | BAX ortholog |
| 11 | Bovine BAX ortholog | Q00709 | >75% | BAX ortholog |
| 12 | Fish BAX ortholog | O02703 | ~45% | BAX ortholog |
| 13 | DNA excision repair protein ERCC-6 | Q03468 | ~10% | DNA repair helicase |
| 14 | Transcriptional repressor protein YY1 | P25490 | ~8% | Zinc-finger transcription factor |
| 15 | DNA ligase 3 | P49916 | ~9% | DNA ligase |
| 16 | Caspase-3 | P42574 | ~15% | Cysteine protease |
| 17 | Caspase-8 | Q14790 | ~12% | Caspase |
| 18 | Caspase-9 | P55211 | ~13% | Caspase |
| 19 | Caspase-7 | P55210 | ~14% | Caspase |
| 20 | p53 | P04637 | ~8% | Tumor suppressor transcription factor |
Key homology patterns: Strong sequence conservation among mammalian BAX orthologs (>75% identity), followed by broader Bcl-2 family members (~10–30% identity sharing core BH domains), with distant homology to caspases and DNA repair proteins reflecting functional partnerships rather than sequence conservation.
Transcription factor regulatory data
BAX is not a transcription factor. BAX (BCL2 associated X, apoptosis regulator) is an apoptosis regulator protein, not a DNA-binding transcription factor.
Upstream regulators of BAX (73 transcription factors)
Evidence sources: COLLECTRI database (curated TF-target interactions) and SIGNOR (signaling network relationships).
Activators of BAX:
- TP53 — Activation | High confidence | ChIP-seq/experimentally validated
- FOXO1 — Activation | High confidence
- HIF1A — Activation | High confidence
- NKX3-1 — Activation | High confidence
- TP63 — Activation | High confidence
- SOX4 — Activation | High confidence
- E2F1 — Activation
- E2F2 — Activation
- ATM — Activation
- ABL1 — Activation
- FOXA2 — Activation
- ERCC2 — Activation
- PML — Activation
- NR3C1 — Activation (glucocorticoid receptor)
- PAX5 — Activation
- MEOX2 — Activation
- MYCN — Activation
- MYCT1 — Activation
- NR4A3 — Activation | Experimentally validated
- ING1 — Activation
- ING4 — Activation
- WWTR1 — Activation
- YAP1 — Activation
- ZNF331 — Activation
- POU4F2 — Activation | High confidence
Repressors of BAX:
- NFKB1 — Repression | High confidence
- NFKB — Repression | High confidence
- RELA — Repression | High confidence
- ETS1 — Repression | High confidence | ChIP-seq/predicted
- GFI1 — Repression | High confidence | ChIP-seq/predicted
- NR4A2 — Repression | High confidence
- POU4F1 — Repression | High confidence
- AATF — Repression | Experimentally validated
- ELL — Repression
- MLLT10 — Repression
- MLLT3 — Repression
- PAX3 — Repression
- PER1 — Repression
- PPP1R13L — Repression
- SMAD2 — Repression
- SMAD3 — Repression
- SP3 — Repression
- TAF1 — Repression
Additional regulators (unknown regulation type or low confidence):
- AHR — High confidence
- AP1 — Low confidence
- ATF3 — Low confidence
- CTCF — High confidence
- EGR1 — High confidence
- ELK1 — High confidence
- ETV4 — High confidence
- GRHL3 — High confidence
- HBP1 — High confidence
- HMGA1 — Low confidence
- HMGB2 — High confidence
- ID3 — High confidence
- IRF8 — High confidence
- JUNB — Low confidence
- MYC — Low confidence
- NR3C2 — Low confidence
- PATZ1 — High confidence
- PPARA — Unknown regulation
- RUNX2 — High confidence
- SALL2 — High confidence
- SMAD4 — Unknown regulation
- SP1 — High confidence
- STAT1 — High confidence
- STAT3 — Unknown regulation
- TP73 — High confidence
- USF1 — High confidence
- ZNF667 — Low confidence
Evidence types: Most interactions from COLLECTRI (curated TF-binding and regulatory relationships); highest-confidence entries marked as “ChIP-seq/experimentally validated” based on SIGNOR pathway curation; “predicted” indicates computational prediction.
Drug & pharmacology data
BAX is not currently an established drug target with approved therapeutics or active clinical development programs.
Summary
ChEMBL molecules targeting BAX: 43 total compounds identified (CHEMBL5318), but nearly all are preclinical research molecules (development phase 0)
Clinical candidates: None identified with BAX as primary mechanism
Approved drugs: No BAX-specific approved drugs found. Sorafenib (CHEMBL1336, Phase 4/FDA-approved) targets BAX among 161 other targets as a multi-kinase inhibitor, but is not a BAX-selective agent
Notable preclinical compounds: BAM7 (CHEMBL3417395) is a known BAX-activating molecule from research literature, but has no clinical development beyond in vitro studies
Clinical trials: No trials identified specifically targeting BAX
Pharmacogenomics: BAX is designated a VIP (Very Important Pharmacogene) in PharmGKB, indicating documented pharmacogenetic relevance, but no specific drug-gene interactions, SNP associations, or dosing guidelines are currently available in public databases for clinical application
Note: While BAX (BCL-2 family apoptosis regulator) is a high-interest research target in oncology and cell death biology, it has not yet transitioned to clinical drug development with specific BAX-targeting therapeutics in trials.
Based on biobtree data for human gene BAX (ENSG00000087088), here’s the expression profile:
Expression profiles
Tissue Expression (Bgee)
BAX shows ubiquitous expression across tissues with high expression breadth (244 present calls, 232 absent calls). Expression breadth indicates presence in diverse tissues consistent with BAX’s role as an apoptotic regulator.
| Tissue/Cell Type | Expression Score | Quality |
|---|---|---|
| Mucosa of transverse colon | 98.83 | Gold |
| Stromal cell of endometrium | 98.46 | Gold |
| Granulocyte | 98.36 | Gold |
| Monocyte | 97.84 | Gold |
| Gall bladder | 96.79 | Gold |
| Leukocyte | 96.78 | Gold |
| Mononuclear cell | 96.70 | Gold |
| Right lung | 96.44 | Gold |
| Small intestine Peyer’s patch | 96.36 | Gold |
| Rectum | 96.33 | Gold |
| Upper lobe of left lung | 96.27 | Gold |
| Spleen | 96.05 | Gold |
| Transverse colon | 96.04 | Gold |
| Ascending aorta | 95.91 | Gold |
| Thoracic aorta | 95.88 | Gold |
| Right adrenal gland cortex | 95.48 | Gold |
| Ectocervix | 95.37 | Gold |
| Right coronary artery | 95.30 | Gold |
| Endocervix | 95.23 | Gold |
| Ventricular zone | 95.13 | Gold |
| Right adrenal gland | 95.02 | Gold |
| Descending thoracic aorta | 94.97 | Gold |
| Brodmann area 10 | 94.94 | Silver |
| Lower esophagus mucosa | 94.85 | Gold |
| Ganglionic eminence | 94.78 | Gold |
| Body of stomach | 94.72 | Gold |
| Cortical plate | 94.71 | Gold |
| Left adrenal gland | 94.71 | Gold |
| Left uterine tube | 94.67 | Gold |
| Right lobe of thyroid gland | 94.66 | Gold |
Pattern: High enrichment in immune cells (granulocytes, monocytes, leukocytes), mucosal tissues (colon, intestines), and hematopoietic organs (spleen), consistent with BAX’s role in apoptosis regulation during immune cell development and tissue homeostasis. Vascular tissues (aorta, coronary artery) also show high expression.
Cell Type Expression
Cell-type enrichment from Bgee includes immune and myeloid lineages:
- Immune cells: granulocytes (98.36), monocytes (97.84), leukocytes (96.78), mononuclear cells (96.70)
- Epithelial/stromal: endometrial stromal cells (98.46), mucosal tissues
Average expression score: 82.57 across all conditions (222/276 gold quality evidence).
Single-Cell Expression (SCXA)
BAX is detected as a marker gene across 4 human single-cell datasets with 299 total clusters:
- E-MTAB-6524: Human induced pluripotent stem cells (iPSC); 10,926 cells
- E-CURD-10: Metastatic renal cell carcinoma patient-derived cells and xenografts; 118 cells
Max mean expression: 224.0 TPM; Average: 25.62 TPM across datasets. Expression varies significantly across cell populations, indicating cell-type and context-dependent regulation.
Disease associations
Mendelian / Monogenic Diseases
| Disease | OMIM ID | Mondo ID | Orphanet ID | Inheritance | Evidence Level |
|---|---|---|---|---|---|
| Leukemia, acute lymphocytic, susceptibility to, 1 | 613065 | MONDO:0013108 | 513 | Unknown | Limited |
Phenotype Associations (HPO)
| HPO ID | Phenotype |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0002891 | Uterine leiomyosarcoma |
| HP:0003003 | Colon cancer |
| HP:0005584 | Renal cell carcinoma |
| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma |
| HP:0006721 | Acute lymphoblastic leukemia |
| HP:0006740 | Transitional cell carcinoma of the bladder |
| HP:0006753 | Neoplasm of the stomach |
| HP:0010982 | Polygenic inheritance |
Complex Disease / GWAS Associations
| Trait/Disease | p-value | Study ID |
|---|---|---|
| Asthma | 8.0 × 10⁻⁶ | GCST003831_37 |
| Eosinophil count | 1.0 × 10⁻¹⁰ | GCST004606_111 |
| Neutrophil percentage of granulocytes | 3.0 × 10⁻⁹ | GCST004623_88 |
| Sum eosinophil basophil counts | 1.0 × 10⁻¹¹ | GCST004624_101 |
| Eosinophil count | 3.0 × 10⁻¹⁷ | GCST90002381_427 |
| Eosinophil percentage of white cells | 3.0 × 10⁻¹² | GCST90002382_599 |
| Lymphocyte count | 8.0 × 10⁻¹² | GCST90002388_43 |
| Plateletcrit | 7.0 × 10⁻⁹ | GCST90002400_617 |
| White blood cell count | 6.0 × 10⁻⁹ | GCST90002407_309 |