Gene Gene information from NCBI Gene database.
Entrez ID 581
Gene name BCL2 associated X, apoptosis regulator
Gene symbol BAX
Synonyms (NCBI Gene)
BCL2L4
Chromosome 19
Chromosome location 19q13.33
Summary 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 w
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs398122513 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs398122840 GGGGGGG>-,GGGGGG,GGGGGGGG Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant, initiator codon variant, intron variant
miRNA miRNA information provided by mirtarbase database.
87
miRTarBase ID miRNA Experiments Reference
MIRT016249 hsa-miR-504-5p qRT-PCR 20542001
MIRT019436 hsa-miR-148b-3p Microarray 17612493
MIRT023402 hsa-miR-122-5p Microarray 17612493
MIRT023402 hsa-miR-122-5p Western blot 18692484
MIRT023989 hsa-miR-1-3p Proteomics;Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
29
Transcription factor Regulation Reference
AATF Repression 22909821
ABL1 Activation 11753601
ATM Activation 16214353
DMAP1 Unknown 24559687
ELL Repression 15851483
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
181
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IEA
GO:0001764 Process Neuron migration IEA
GO:0001776 Process Leukocyte homeostasis IEA
GO:0001777 Process T cell homeostatic proliferation IEA
GO:0001782 Process B cell homeostasis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600040 959 ENSG00000087088
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07812
Protein name Apoptosis regulator BAX (Bcl-2-like protein 4) (Bcl2-L-4)
Protein function Plays a role in the mitochondrial apoptotic process (PubMed:10772918, PubMed:11060313, PubMed:16113678, PubMed:16199525, PubMed:18948948, PubMed:21199865, PubMed:21458670, PubMed:25609812, PubMed:36361894, PubMed:8358790, PubMed:8521816). Under
PDB 1F16 , 2G5B , 2K7W , 2LR1 , 3PK1 , 3PL7 , 4BD2 , 4BD6 , 4BD7 , 4BD8 , 4BDU , 4S0O , 4S0P , 4UF2 , 4ZIE , 4ZIF , 4ZIG , 4ZIH , 4ZII , 5W5X , 5W5Z , 5W60 , 5W61 , 6EB6 , 6L8V , 6L95 , 6TRR , 6XY6 , 7ADT , 8G1T , 8SPE , 8SPF , 8SPZ , 8SRX , 8SRY , 8SVK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 63 158 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breas
Sequence
MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLS
ECLKRIGDELDSNMELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKL
VLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGW
DGLLSYFGTPTWQTVTIFVAGV
LTASLTIWKKMG
Sequence length 192
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carcinoma of colon Pathogenic rs398122840 RCV000010120
T-cell acute lymphoblastic leukemia Pathogenic rs398122513, rs398122840 RCV000010121
RCV000010122
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 31695369
Abortion Habitual Stimulate 18019411
Abortion Habitual Associate 30937706
Acute Coronary Syndrome Associate 25527700
Adenocarcinoma Associate 11005569, 14716828, 17091766, 17354623
Adenocarcinoma of Lung Associate 23991130, 27878984, 31432162, 32667124, 38182570
Adenoma Associate 15188026, 34762658
Adenoma Inhibit 17109495
Adenoma Pleomorphic Associate 25230790
Adenomatous Polyps Associate 17278192