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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BAX Gene

protein-coding GIFtS: 71
GCID: GC19P049458

BCL2-associated X protein

Explore 271 diseases affiliated with
BAX via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
BCL2-Associated X Protein¹ ²		Bcl2-L-4³
BCL2L4¹ ² ³		BCL2-Associated X Protein Omega²
Bcl-2-Like Protein 4² ³		BCL2-Associated X Protein Transcript Variant Delta2²
Apoptosis Regulator BAX²		Bcl2-L-4³

External Ids:	HGNC: 959¹	Entrez Gene: 581²	Ensembl: ENSG00000087088⁷	OMIM: 600040⁵	UniProtKB: Q07812³

ORGUL members:
	NONCODE:n408059 n335064 n335065

Export aliases for BAX gene to outside databases

Previous GC identifers: GC19P050116 GC19P049826 GC19P054135 GC19P054149 GC19P045835

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAX:

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. 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, Jul 2008)

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812

Function: Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its

adenovirus homolog E1B 19k protein. Under stress conditions, undergoes a conformation change that causes translocation

to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes

activation of CASP3, and thereby apoptosis

summary for BAX:

Bcl-2 family proteins regulate and contribute to programmed cell death or apoptosis. It is a large protein

family and all members contain at least one of four BH (bcl-2 homology) domains. Certain members such as

Bcl-2, Bcl-xl and Mcl1 are anti-apoptotic, whilst others are pro-apoptotic. The pro-apoptotic group of Bcl-2

proteins can be further sub-divided into the structurally diverse 'BH3' only proteins (e.g. Bid, Noxa, Puma

and Bad) and the multidomain proteins that share BH1 to 3 (e.g. Bax and Bak). Most Bcl-2 family members

contain a C-terminal transmembrane domain that functions to target these proteins to the outer mitochondrial

and other intracellular membranes.

Gene Wiki entry for BAX (Bcl-2-associated X protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BAX gene promoter:
STAT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BAX promoter sequence

Search SABiosciences Chromatin IP Primers for BAX

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAX

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3-q13.4 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.3-q13.4

BAX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAX gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P049458: view genomic region (about GC identifiers)

Start:	49,458,072 bp from pter	End:	49,465,055 bp from pter
Size:	6,984 bases	Orientation:	plus strand

ORGUL member locations:
Legend (see complete legend)

n408059
n335065
n335064

lncRNA
Full Legend

49458116 49461586 49465055 chr19

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812 (See protein sequence)

Recommended Name: Apoptosis regulator BAX

Size: 192 amino acids; 21184 Da

Subunit: Homodimer. Forms higher oligomers under stress conditions. Interacts with BCL2L11. Interaction with BCL2L11

promotes BAX oligomerization and association with mitochondrial membranes, with subsequent release of cytochrome c.

Forms heterodimers with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), BCL2L2, MCL1 and A1. Interacts with SH3GLB1

and HN. Interacts with SFN and YWHAZ; the interaction occurs in the cytoplasm. Under stress conditions, JNK-mediated

phosphorylation of SFN and YWHAZ, releases BAX to mitochondria. Isoform Sigma interacts with BCL2A1 and BCL2L1 isoform

Bcl-X(L). Interacts with RNF144B, which regulates the ubiquitin-dependent stability of BAX. Interacts with CLU under

stress conditions that cause a conformation change leading to BAX oligomerization and association with mitochondria.

Does not interact with CLU in unstressed cells. Interacts with FAIM2/LFG2. Interacts with human cytomegalovirus/HHV-5

protein vMIA/UL37. Interacts with BOP/C22orf29

Subcellular location: Isoform Alpha: Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Colocalizes

with 14-3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release

from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane

Subcellular location: Isoform Beta: Cytoplasm

Subcellular location: Isoform Gamma: Cytoplasm

Subcellular location: Isoform Delta: Cytoplasm (Potential)

6/11 PDB 3D structures from and Proteopedia for BAX (see all 11):

1F16 (3D)

2G5B (3D)

2K7W (3D)

2LR1 (3D)

3PK1 (3D)

3PL7 (3D)

Secondary accessions: A8K4W1 P55269 Q07814 Q07815 Q8WZ49 Q9NR76 Q9NYG7 Q9UCZ6 Q9UCZ7 Q9UQD6

Alternative splicing: 8 isoforms: Q07812-1 Q07812-2, Q07814-1 Q07812-3, Q07815-1 Q07812-4, P55269-1 Q07812-5 Q07812-6 Q07812-7 Q07812-8

Explore the universe of human proteins at neXtProt for BAX: NX_Q07812

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q07812

BAX Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_004315.1 NP_620116.1 NP_620118.1 NP_620119.2

ENSEMBL proteins:

ENSP00000263262 ENSP00000426328 ENSP00000348871 ENSP00000389971 ENSP00000346461

ENSP00000426184 ENSP00000293288 ENSP00000441413 ENSP00000375744

Reactome Protein details: Q07812
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for BAX
	Browse Proteins at Uscn

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	IMP	15102863
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	IDA	17823127

BAX for ontologies About GeneDecksing

BAX Antibody Products:

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	Novus Biologicals BAX Antibodies
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	ThermoFisher Antibody for BAX

Assay Products for BAX:

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	Enzo Life Sciences assays for BAX
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BAX for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR020728 Bcl2_BH3_motif_CS

IPR002475 Bcl2-like

IPR026298 Blc2_fam

IPR020717 Bcl2_BH1_motif_CS

IPR026304 BAX

Graphical View of Domain Structure for InterPro Entry Q07812

ProtoNet protein and cluster: Q07812

1 Blocks protein family: IPB000712 Apoptosis regulator Bcl-2 protein

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812

Domain: Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their

interaction with anti-apoptotic members of the Bcl-2 family (By similarity)

Similarity: Belongs to the Bcl-2 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812

Function: Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its

adenovirus homolog E1B 19k protein. Under stress conditions, undergoes a conformation change that causes translocation

to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes

activation of CASP3, and thereby apoptosis

Genatlas biochemistry entry for BAX:

BCL2-associated X protein,promoting of apoptosis,21kDa,extensively homolog to BCL2,translocated and inserted into the

mitochondrial membrane binding permeability transition pore and increasing the release of cytochrome c,leading to cell

death after homodimerization with BCL2,modulating CDK2 activation during thymocyte apoptosis,mutated in gastric

carcinomas and in endometrial atypical hyperplasia,determinant of chemo-sensitivity in tumor cell-lines,maybe involved

in the tumorigenesis of HNPCC with microsatellite instability and in the uterine cancer,not mutated in acquired

immunodeficiency syndrome-related non Hodgkin lymphoma

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BAX
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		hsa-miR-548w hsa-miR-548j hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p hsa-miR-548y hsa-miR-548b-5p

		SwitchGear 3'UTR luciferase reporter plasmid: BAX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BAX (see all 7) OriGene shRNA RFP: BAX OriGene siRNA: BAX
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BAX

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 4): BAX (NM_138764)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAX

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16113678
GO:0008289	lipid binding	IDA	14522999
GO:0015267	channel activity	IDA	9219694
GO:0042802	identical protein binding	IPI	16113678
GO:0042803	protein homodimerization activity	IPI	9111042

BAX for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for BAX: Bax^tm1Dlo Bax^tm1Ofxa Bax^tm1Sjk
     15/17 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Bax) (see all 17):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	hearing/vestibular/ear
hematopoietic system	homeostasis/metabolism	immune system	limbs/digits/tail	mortality/aging
muscle	nervous system	renal/urinary system	reproductive system	respiratory system

BAX for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/53 super-pathways (see all 53) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

PEDF Induced Signaling

8/11 pathways (see all 11)
PEDF Induced Signaling	1.00	STAT3 Pathway	0.47
MIF Mediated Glucocorticoid Regulation	0.73	Endothelin-1 Signaling Pathway	0.44
MIF Regulation of Innate Immune Cells	0.71	NFAT Signaling and Lymphocyte Interactions	0.37
IL-6 Pathway	0.61	PGC1Alpha Pathway	0.33

Development HGF signaling pathway

8/9 pathways (see all 9)
Development_Neurotrophin family signaling	0.45	Apoptosis and survival Role of CDK5 in neuronal death and survival	0.24
Development Neurotrophin family signaling	0.45	Neurotrophin signaling pathway	0.20
Apoptosis and survival_Anti-apoptotic action of membrane-bound ESR1	0.24	Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2	0.15
Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1	0.24	Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2	0.15

TGF-Beta Pathway

TGF-Beta Pathway	1.00	JNK Pathway	0.50
MAPK Family Pathway	0.60	Regulation of eIF4 and p70S6K	0.43
JAK-STAT Pathway	0.57	SOCS Pathway	0.29

Apoptosis and survival_Caspase cascade

Apoptosis and survival_Caspase cascade	1.00	Apoptosis and survival FAS signaling cascades	0.44
Apoptosis and survival Caspase cascade	1.00	Caspase cascade in apoptosis	0.42
Apoptosis and survival_FAS signaling cascades	0.44

Apoptosis and survival_Apoptotic TNF-family pathways

	Apoptosis and survival_Apoptotic TNF-family pathways	1.00			Apoptosis Signaling Pathways	0.35
	Apoptosis and survival Apoptotic TNF-family pathways	1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/13 EMD Millipore Pathways for BAX (see all 13)

	Apoptosis and survival Role of CDK5 in neuronal death and survival
	Apoptosis and survival FAS signaling cascades
	Apoptosis and survival Lymphotoxin-beta receptor signaling
	Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2
	Apoptosis and survival TNFR1 signaling pathway

1 R&D Systems Pathway for BAX

Apoptosis Signaling Pathways

5/39 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BAX (see all 39)

	Mitochondrial Apoptosis
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	TRKA Signaling
	JNK Pathway

1 Cell Signaling Technology (CST) Pathway for BAX

Apoptosis and Autophagy

2 Tocris Bioscience Pathways for BAX

	Akt Pathway
	VEGF Pathway

5/12 GeneGo (Thomson Reuters) Pathways for BAX (see all 12)

	Apoptosis and survival Caspase cascade
	Apoptosis and survival BAD phosphorylation
	Development Neurotrophin family signaling
	Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
	Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2

5/21 BioSystems Pathways for BAX (see all 21)

	TP53 network
	Apoptosis Modulation and Signaling
	DNA damage response
	Apoptosis
	Integrated Breast Cancer Pathway

3 Reactome Pathways for BAX

	Activation, translocation and oligomerization of BAX
	Intrinsic Pathway for Apoptosis
	Apoptosis

1 PharmGKB Pathway for BAX

Vinka Alkaloid Pathway, Pharmacokinetics

5/10 Kegg Pathways (Kegg details for BAX) (see all 10):

	p53 signaling pathway
	Protein processing in endoplasmic reticulum
	Apoptosis
	Neurotrophin signaling pathway
	Amyotrophic lateral sclerosis (ALS)

BAX for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BAX

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/86 Interacting proteins for BAX (Q07812^{1, 2, 3} ENSP00000293288⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 86)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BCL2L11	O43521¹^,²^,³	EBI-516580,EBI-1002160 MINT-4980301 MINT-7034079 MINT-4980279 MINT-7034069 MINT-7034114 MINT-4980319 I2D: score=2
BAK1	Q16611¹^,²^,³, ENSP00000363591⁴	EBI-516580,EBI-519866 MINT-6740900 MINT-7306728 MINT-6740894 I2D: score=5 STRING: ENSP00000363591
BCL2	P10415¹^,²^,³, ENSP00000329623⁴	EBI-516580,EBI-77694 MINT-4980319 I2D: score=10 STRING: ENSP00000329623
MT-RNR2	Q8IVG9²^,³	MINT-19415 MINT-19412 MINT-19414 MINT-19413 I2D: score=2
BCL2L1	Q07817²^,³, ENSP00000302564⁴	MINT-4980301 MINT-4980319 I2D: score=8 STRING: ENSP00000302564

About this table

Gene Ontology (GO): 5/98 biological process terms (GO ID links to tree view) (see all 98): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001101	response to acid	IEA	--
GO:0001541	ovarian follicle development	IEA	--
GO:0001764	neuron migration	IEA	--
GO:0001776	leukocyte homeostasis	--	--
GO:0001777	T cell homeostatic proliferation	IEA	--

BAX for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BAX for compounds About GeneDecksing

EMD Millipore small molecules for BAX:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for BAX

Compounds for BAX available from Tocris Bioscience About this table

Compound	Action	CAS #
2,3-DCPE hydrochloride	Selectively induces cancer cell apoptosis	[418788-90-6]
Gossypol	Pro-apoptotic; downregulates Bcl-2 and Bcl-XL	[303-45-7]
HA14-1	Bcl-2 inhibitor. Induces apoptosis	[65673-63-4]

10/139 Novoseek chemical compound relationships for BAX gene (see all 139) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dutp	73.6	29	10830721 (1), 12860918 (1), 17352871 (1), 20090882 (1) (see all 28)
adpribose	72.8	38	12490780 (2), 15486061 (1), 18565645 (1), 11205313 (1) (see all 34)
mononucleotide	71.4	36	11753956 (3), 10699890 (2), 10918391 (2), 9639521 (2) (see all 26)
oridonin	71.4	9	15703811 (2), 16638644 (1), 15875084 (1), 17473426 (1) (see all 8)
noxa	68.6	25	15598651 (3), 15878356 (2), 15705586 (2), 18712736 (1) (see all 17)
3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide	67.4	5	15033191 (1), 15749633 (1), 16243419 (1), 18279588 (1) (see all 5)
gambogic acid	66.5	12	19200201 (2), 17693016 (1), 19379569 (1), 20011242 (1) (see all 8)
sp 600125	65.3	19	15034932 (2), 19427996 (2), 18695917 (1), 19699753 (1) (see all 12)
etoposide	64	69	11521193 (6), 19271688 (3), 10620629 (3), 11029754 (3) (see all 40)
cisplatin	63.5	142	9635829 (5), 11267864 (4), 18362892 (4), 10063313 (4) (see all 80)

Search CenterWatch for drugs/clinical trials and news about BAX

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BAX gene (5 alternative transcripts):

NM_004324.3 NM_138761.3 NM_138763.3 NM_138764.4 NM_138762.2

Unigene Cluster for BAX:

BCL2-associated X protein

Hs.624291 [show with all ESTs]

Unigene Representative Sequence: BF983096

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000502487 ENST00000345358(uc002plk.3 uc002pll.3 uc002plm.3)

ENST00000513545 ENST00000515540 ENST00000356483 ENST00000415969 ENST00000354470

ENST00000506183 ENST00000293288(uc002plf.1 uc002plg.1 uc002plh.1)

ENST00000503726 ENST00000513217 ENST00000507757 ENST00000539787(uc010xzx.2 uc002plj.3)

ENST00000391871

miRNA Products:		OriGene 3'-UTR Clone (see all 4): BAX Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BAX
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate BAX (see all 12):
		hsa-miR-548w hsa-miR-548j hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p hsa-miR-548y hsa-miR-548b-5p

		SwitchGear 3'UTR luciferase reporter plasmid: BAX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BAX (see all 7) OriGene shRNA RFP: BAX OriGene siRNA: BAX
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BAX

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BAX (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BAX (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): BAX (NM_138764)
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Additional cDNA sequence:

AF247393.1 AF250190.1 AJ417988.1 AJ586909.1 AK291076.1 BC014175.2 HQ889830.1 JX524562.1

L22473.1 L22474.1 NR_027882.1 U19599.1

13 DOTS entries:

DT.406858 DT.95248066 DT.121501083 DT.86844259 DT.100044370 DT.92453441 DT.95272565 DT.100777418

DT.100044294 DT.92453437 DT.91818423 DT.99971095 DT.95248065

16 AceView cDNA sequences:

L22474 L22475 CR595189 AF247393 AF250190 AJ417988 NM_138762 NM_004324

NM_138763 L22473 BC014175 NM_138765 U19599 NM_138764 NM_138761 AF007826

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for BAX About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6
SP1:							-
SP2:							-
SP3:

ECgene alternative splicing isoforms for BAX

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BAX expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCATTTTTC

About this image

BAX expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Brown adipocyte-like cells (Differentiation of w...)

White adipocyte-like cells (Differentiation of w...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BAX Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BAX

SOURCE GeneReport for Unigene cluster: Hs.624291

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812

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, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform

Sigma are expressed in pro-myelocytic leukemia, histiocytic lymphoma, Burkitt's lymphoma, T-cell lymphoma,

lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung

carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines

SABiosciences Expression via Pathway-Focused PCR Arrays including BAX (see all 21):

Lung Cancer in human mouse rat

HIV Host Response in human mouse rat

Multiple Sclerosis in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Autophagy in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BAX gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bax^{1 , 5}	BCL2-associated X protein^{1, 5}	89.58(n)¹ 92.19(a)¹		7 (29.32 cM)⁵ 12028¹ NM_007527.3¹ NP_031553.1¹ 45461695⁵
lizard (Anolis carolinensis)	Reptilia	BAX⁶	--	49(a)	1 ↔ 1	GL343355.1(5041-13729)
African clawed frog (Xenopus laevis)	Amphibia	bax-A²	BCL2-associated X protein	73.82(n)		AF288809.1
zebrafish (Danio rerio)	Actinopterygii	bax²	bcl2-associated X protein	76.49(n)		58081 BC055592.1
honey bee (Apis mellifera)	Insecta	--	--	12(a)	possible ortholog	Group1.23(127523-129000)

ENSEMBL Gene Tree for BAX (if available)
TreeFam Gene Tree for BAX (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BAX gene

BAK1² BCL2² BCL2L2² BCL2L1²

4 SIMAP similar genes for BAX using alignment to 8 protein entries: BAX_HUMAN (see all proteins):

BCL2L2-PABPN1 BCL2L2 BCL2L1 bcl-2

BAX for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75562529^1,2	C,F,	--	45833192(+)	`ACTGAG/AGCTGG`	5	--	us2k¹		4		WA CSA	124
rs75144287^1,2		--	45833425(+)	`CAGAAG/TTGAGC`	5	--	us2k¹		0	--	--	--	--
rs4645879^1,2	C	--	45834894(+)	`GGCGCC/AACTGC`	5	--	us2k¹		1		NS	174
rs28450536^1,2	F,	--	45834900(+)	`ACTGCT/AGGCAC`	5	--	us2k¹		1		WA	118
rs4645880^1,2	C	--	45834963(+)	`GGAGCG/CAGGCA`	5	--	us2k¹		1		NS	180
rs4645882^1,2	C	--	45835218(+)	`GGGATC/GCTTCC`	5	--	int¹		6		NS MN	556
rs4645883^1,2	C	--	45835336(+)	`ATCCCC/GGTGTC`	5	--	int¹		6		NS MN	560
rs1009315^1,2	C,F,H,	--	45835392(+)	`GATCTC/GGGAAG`	5	--	int¹		14		EA NA NS MN CSA	1036
rs1805417^1,2	C,F,	--	45835664(+)	`CCTCAG/AGGGCC`	5	--	int¹		3		NA NS MN	434
rs1805416^1,2	C,F,	--	45835684(+)	`CACAGT/ACTCCT`	5	--	int¹		2		NA NS	260

HapMap Linkage Disequilibrium report for BAX (49458072 - 49465055 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for BAX
2 CNVs: 5108 32261
Human Gene Mutation Database (HGMD): BAX

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BAX for disorders           About GeneDecksing

OMIM gene information: 600040    OMIM disorders: --

20/271 diseases for BAX (see all 271):    About MalaCards

li-fraumeni syndrome b-cell non-hodgkin lymphoma fuchs' endothelial dystrophy serous cystadenocarcinoma

squamous cell carcinoma diffuse large b-cell lymphoma doxorubicin induced cardiomyopathy lichen planus

non-hodgkin lymphoma maxillary sinus squamous cell carcinoma chronic venous leg ulcers amyotrophic lateral sclerosis (als)

inclusion body myositis central nervous system lymphoma focal cortical dysplasia ovarian serous cystadenocarcinoma

non-small cell lung carcinoma actinic cheilitis amyotrophic lateral sclerosis b-cell lymphomas

3 diseases from the University of Copenhagen DISEASES database for BAX:

Lymphoma Leukemia Vascular disease

10/89 Novoseek disease relationships for BAX gene (see all 89) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	74.9	848	17295204 (7), 17352871 (5), 11712682 (5), 11759059 (5) (see all 99)
microsatellite instability	74.4	67	9500210 (4), 12378532 (3), 9849580 (2), 12866376 (2) (see all 51)
cancer	71.9	171	12120204 (3), 15832769 (3), 9890562 (3), 19723045 (3) (see all 99)
leukemia	64	59	9583678 (2), 9446661 (2), 18059532 (2), 9031099 (1) (see all 48)
colon cancer	63.7	65	12378532 (5), 19003586 (4), 15262986 (2), 15661804 (2) (see all 38)
breast cancer	58.8	170	17626754 (5), 11469882 (4), 9035310 (3), 10481938 (3) (see all 99)
carcinoma squamous cell	56.7	100	9039223 (3), 10492046 (3), 9649682 (3), 17384243 (3) (see all 58)
necrosis	56.3	78	17470554 (3), 12393866 (2), 10523849 (2), 16443387 (2) (see all 65)
prostate cancer	56.2	74	18247359 (4), 16880611 (3), 16794010 (3), 9836559 (3) (see all 48)
gastric cancer	55.3	80	11172605 (4), 19160045 (4), 11532860 (3), 10880019 (3) (see all 48)

Genetic Association Database (GAD): BAX
Human Genome Epidemiology (HuGE) Navigator: BAX (56 documents)
Tumor Gene Database (TGDB): BAX

Export disorders for BAX gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BAX gene, integrated from 9 sources (see all 3527):
(articles sorted by number of sources associating them with BAX)

Utopia: connect your pdf to the dynamic
world of online information

Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death. (PubMed id 8358790)^{1, 2, 3} Oltvai Z.N.... Korsmeyer S.J. (1993)
IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulat ory factor for Bax and apoptosis activation. (PubMed id 20300062)^{1, 2, 9} Benard G....Karbowski M. (2010)
Humanin peptide suppresses apoptosis by interfering with Bax activation. (PubMed id 12732850)^{1, 2, 9} Guo B....Reed J.C. (2003)
Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PubMed id 16380996)^{1, 4, 9} Jung B....Carethers J.M. (2006)
Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis. (PubMed id 12161031)^{1, 4, 9} Kuhlmann T....Bruck W. (2002)
Common polymorphism G(-248)A in the promoter region of the bax gene results in significantly shorter survival in patients with chronic lymphocytic Leukemia once treatment is initiated. (PubMed id 15735127)^{1, 4, 9} Starczynski J....Fegan C. (2005)
The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients. (PubMed id 11912183)^{1, 2, 9} Cartron P.F.... Vallette F.M. (2002)
The G(-248)A polymorphism in the promoter region of the Bax gene does not correlate with prognostic markers or overall survival in chronic lymphocytic leukemia. (PubMed id 16307023)^{1, 4, 9} Skogsberg S....Rosenquist R. (2006)
Clusterin inhibits apoptosis by interacting with activated Bax. (PubMed id 16113678)^{1, 2, 9} Zhang H....Wang C.Y. (2005)
Association of a novel single nucleotide polymorphism, G(-248)A, in the 5'-UTR of BAX gene in chronic lymphocytic leukemia with disease progression and treatment resistance. (PubMed id 12359369)^{1, 4, 9} Saxena A....Sheridan D.P. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 581	HGNC: 959	AceView: BAX	Ensembl:ENSG00000087088	euGenes: HUgn581
ECgene: BAX	Kegg: 581	H-InvDB: BAX

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BAX	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BAX	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/bax/

Intellectual Property for BAX gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BAX gene:
Search GeneIP for patents involving BAX

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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BCL2-associated X protein

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Leukemia B-Cell
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BAX Gene

BCL2-associated X protein

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