Seroatlas · Human Serome Atlas

BAX

Apoptosis regulator BAX

Also known as: BAX_HUMAN, BCL2L4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q07812
Gene
BAX
Ensembl
ENSG00000087088
Chromosome
19
Canonical length
192 aa
Protein class
Cancer-related genes, Human disease related genes, Predicted intracellular proteins, Transporters
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019]

Canonical amino-acid sequenceUniProt

192 residues, UniProt reviewed canonical sequence.

>Q07812|BAX
     1  MDGSGEQPRG GGPTSSEQIM KTGALLLQGF IQDRAGRMGG EAPELALDPV PQDASTKKLS
    61  ECLKRIGDEL DSNMELQRMI AAVDTDSPRE VFFRVAADMF SDGNFNWGRV VALFYFASKL
   121  VLKALCTKVP ELIRTIMGWT LDFLRERLLG WIQDQGGWDG LLSYFGTPTW QTVTIFVAGV
   181  LTASLTIWKK MG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BAX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
77 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 77 nTPM
  • colon: 72 nTPM
  • duodenum: 65 nTPM
  • bone marrow: 61 nTPM
  • small intestine: 61 nTPM
  • spleen: 58 nTPM

Single-cell type

  • hofbauer cells: 333 nCPM
  • enterocytes: 197 nCPM
  • extravillous trophoblasts: 186 nCPM
  • migrating cytotrophoblasts: 161 nCPM
  • enteric transient amplifying cells: 156 nCPM
  • esophageal basal cells: 152 nCPM

Immune cell

  • non-classical monocyte: 21 nTPM
  • intermediate monocyte: 19 nTPM
  • eosinophil: 14 nTPM
  • neutrophil: 13 nTPM
  • plasmacytoid DC: 13 nTPM
  • classical monocyte: 12 nTPM

Brain region

  • medulla oblongata: 19 nTPM
  • white matter: 19 nTPM
  • basal ganglia: 18 nTPM
  • thalamus: 18 nTPM
  • spinal cord: 17 nTPM
  • pons: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BAX.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 53 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.75
gnomAD pLI
0.32
gnomAD missense Z
0.3
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BAX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BAX as an antibody target. Whether an autoantibody or antibody against BAX could matter depends on whether native BAX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BAX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BAX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BAX. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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