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BAX Gene

protein-coding GIFtS: 76

GC19P054149

BCL2-associated X protein
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
BCL2L4 ^¹, ², ³
Bcl2-L-4 ^³

Descriptions
BCL2-associated X protein ^²
Bcl-2-like protein 4 ^³
apoptosis regulator BAX ^²

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

Search outside databases for aliases for BAX gene

Previous GC identifers: GC19P050116 GC19P049826 GC19P054135

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

EntrezGene 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]

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. Induces the release of cytochrome c, activation of

CASP3, and thereby apoptosis

Gene Wiki entry for BAX (Bcl-2-associated_X_protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BAX gene

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)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P054149: (about GC identifiers)

Start:	54,149,929 bp from pter
End:	54,156,867 bp from pter
Size:	6,939 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000019.8 NT_011109.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812 (See protein sequence)

Recommended Name: Apoptosis regulator BAX

Size: 192 amino acids; 21184 Da

Subunit: Homodimer. Forms heterodimers with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), 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)

Subcellular location: Isoform Alpha: Mitochondrion membrane; Single-pass membrane protein.

Cytoplasm. Note=Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions,

redistributes to the mitochondrion membrane through the release from JNK-phosphorylated 14-3-3

proteins

Subcellular location: Isoform Beta: Cytoplasm

Subcellular location: Isoform Gamma: Cytoplasm

Subcellular location: Isoform Delta: Cytoplasm (Potential)

PDB structures from and Proteopedia :

1F16 (3D)

2G5B (3D)

2K7W (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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (5 alternative transcripts):

NP_004315.1 NP_620116.1 NP_620118.1 NP_620119.1 NP_620120.1

ENSEMBL proteins:

ENSP00000346461 ENSP00000263262 ENSP00000293288 ENSP00000348871 ENSP00000375744

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for BAX
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (beta Bax, Bax)
	Human Recombinant Proteins from Abnova (BAX)

OriGene Purified Recombinant Human Protein: BAX

5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005739	mitochondrion	IDA	11912183
GO:0005741	mitochondrial outer membrane	EXP	11136736
GO:0005757	mitochondrial permeability transition pore complex	IDA	9843949
GO:0005783	endoplasmic reticulum	IDA	16424160

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Antibodies for BAX:

	Invitrogen Antibodies for BAX
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for BAX
	R&D Systems Antibodies for BAX
	Cell Signaling Technology (CST) Antibodies for BAX
	Antibodies from Abcam (beta Bax, Bax), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for BAX

Assays for BAX:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for BAX (see all)
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BAX)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BAX)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_138761

Applied Biosystems Silencer® siRNAs for BAX

Sigma-Aldrich siRNA and siRNA Panels for BAX

Sigma-Aldrich shRNA Panels and shRNA for BAX

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for BAX
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_004324
Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_004324
untagged cDNA clones in CMV expression vector (see all 5): NM_004324

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_004324

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. Induces the release of cytochrome c, 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

15/18 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Bax) (see all 18 ):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	hearing/vestibular/ear
hematopoietic system	homeostasis/metabolism	immune system	lethality-prenatal/perinatal	life span-post-weaning/aging
limbs/digits/tail	muscle	nervous system	renal/urinary system	reproductive system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008289	lipid binding	IDA	14522999
GO:0042803	protein homodimerization activity	IPI	9111042
GO:0046982	protein heterodimerization activity	IPI	9111042
GO:0051434	BH3 domain binding	IPI	15705586 17052454

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/11 Sigma-Aldrich "Your Favorite Gene" Pathways for BAX (Your Favorite Gene powered by Ingenuity) (see all 11 )

Aryl Hydrocarbon Receptor Signaling
p53 Signaling
Apoptosis Signaling
Docosahexaenoic Acid (DHA) Signaling
Huntington's Disease Signaling

GeneDecks BAX for the pathways selected above

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

5/198 Interacting proteins for BAX (ENSP00000293288³ Q07812^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 198 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKCE	Q02156¹	STRING (score=.939) EBI-516580, EBI-706254
BCL2L11	O43521²	STRING (score=.997) MINT-4980301 MINT-7034079 MINT-4980279 MINT-7034069 MINT-7034114 MINT-4980319
MCL1	Q07820²	STRING (score=.966) MINT-4980279 MINT-4980319
BAD	Q92934²	STRING (score=.84) MINT-7034079
BCL2L1	Q07817¹^,²	STRING (score=.999) EBI-516580, EBI-78035 MINT-4980301 MINT-4980319 EBI-516580, EBI-78035 MINT-4980301 MINT-4980319

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5/23 Gene Ontology (GO) biological process terms (links to tree view) (see all 23 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001783	B cell apoptosis	IEP	15073604
GO:0001836	release of cytochrome c from mitochondria	IDA	9843949 17052454
GO:0006309	DNA fragmentation during apoptosis	IMP	11350920
GO:0006922	cleavage of lamin	IMP	11350920
GO:0006927	transformed cell apoptosis	IMP	10739008

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for BAX

Browse Small Molecules at Sigma-Aldrich

Compounds for BAX available from Tocris Bioscience

Compound	Action	CAS number
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]

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10/39 Novoseek chemical compound relationships for BAX gene (see all 39 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dutp	73.83	24	10830721 (1), 12860918 (1), 17352871 (1), 11867201 (1) (see all 24)
mononucleotide	71.74	35	11753956 (3), 10699890 (2), 10918391 (2), 9639521 (2) (see all 25)
oridonin	70.43	8	15703811 (2), 16638644 (1), 15875084 (1), 17473426 (1) (see all 7)
noxa	66.07	21	15598651 (3), 15878356 (2), 15705586 (2), 18712736 (1) (see all 14)
3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide	64.54	5	15033191 (1), 15749633 (1), 16243419 (1), 18279588 (1) (see all 5)
sp 600125	62.09	10	15034932 (2), 18695917 (1), 18718914 (1), 12527812 (1) (see all 9)
agarose	59.40	14	16781684 (1), 17605850 (1), 12390773 (1), 16277841 (1) (see all 10)
gambogic acid	58.63	8	19200201 (2), 17693016 (1), 19379569 (1), 15968715 (1) (see all 5)
norcantharidin	55.31	5	16784656 (2), 15525474 (1), 17442474 (1), 17287171 (1)
ptpc	54.66	1	15033708 (1)

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2 PharmGKB drug compound relationships for BAX gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
mercaptopurine	PD FA GN	12704389
methotrexate	PD FA GN	12704389

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BAX)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BAX)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_138761

Sigma-Aldrich siRNA and siRNA Panels for BAX

Sigma-Aldrich shRNA Panels and shRNA for BAX

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_004324 NM_138761 NM_138763 NM_138764 NM_138765

REFSEQ mRNAs for BAX gene (5 alternative transcripts):

NM_004324.3 NM_138761.3 NM_138763.3 NM_138764.3 NM_138765.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_004324 NM_138761 NM_138763 NM_138764 NM_138765

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_004324
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_004324
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_004324

Additional cDNA sequence:

AF247393.1 AF250190.1 AJ417988.1 AJ586909.1 AK291076.1 BC014175.2 CR595189.1 L22473.1

L22474.1 U19599.1

13 DOTS entries:

DT.406858 DT.95248066 DT.121501083 DT.86844259 DT.100044370 DT.100044294 DT.92453441 DT.95272565

DT.100777418 DT.92453437 DT.91818423 DT.99971095 DT.95248065

16 AceView cDNA sequences:

AF247393 NM_138762 CR595189 L22474 AF250190 NM_004324 L22475 AJ417988

NM_138764 AF007826 U19599 NM_138763 NM_138761 L22473 NM_138765 BC014175

highest scoring ESTs for BAX:

L22473 U19599 AF247393 AJ417988 BC014175 CA771466 D20384 L22474 L22475 AF007826

Unigene Cluster for BAX:

BCL2-associated X protein

Hs.624291 [show with all ESTs]

Unigene Representative Sequence: BF983096

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for BAX

5 Ensembl transcripts including schematic representations:

ENST00000354470 ENST00000345358 ENST00000293288 ENST00000356483 ENST00000391871

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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BAX expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BAX

¹ / ² / ³

9 probe-sets matching BAX gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
2067_f_at²^{, 3}	U95-A	1	1.00	1.00	0.94	0.82	L22475	0.80	1.00	0.91	1
2066_at²^{, 3}	U95-A	1	1.00	1.00	0.57	0.96	L22474	0.80	1.00	0.91	1
2065_s_at²^{, 3}	U95-A	1	1.00	1.00	0.95	0.94	L22473	1.00	1.00	1.00	1
1998_i_at²^{, 3}	U95-A	1	1.00	1.00	-0.74	1.07	U19599	1.00	1.00	1.00	1
1997_s_at²^{, 3}	U95-A	1	1.00	1.00	0.91	1.24	U19599	1.00	1.00	1.00	1
211833_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U19599	1.00	1.00	1.00	1
208478_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_004324	0.60	1.00	0.82	1
211833_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208478_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks BAX for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GGCATTTTTC

SOURCE GeneReport for Unigene cluster: Hs.624291
Expression variation in blood from EXPOLDB for BAX
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,
histyocytic 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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BAX gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BAX¹	--	BCL2-associated X protein	92.88(n) 97.4(a)	403523 NM_001003011.1 NP_001003011.1
chimpanzee (Pan troglodytes)	BAX¹	--	BCL2-associated X protein	99.83(n) 99.48(a)	747093 XM_001155879.1 XP_001155879.1
cow (Bos taurus)	BAX¹	--	BCL2-associated X protein	93.4(n) 96.35(a)	785708 XM_001253643.1 XP_001253644.1
rat (Rattus norvegicus)	Bax¹	--	Bcl2-associated X protein	89.41(n) 91.15(a)	24887 NM_017059.1 NP_058755.1
mouse (Mus musculus)	Bax^{1, 5}	7 (23.00 cM)⁵	BCL2-associated X protein^{1, 5}	89.58(n)¹ 92.19(a)¹	12028¹ NM_007527.3¹ NP_031553.1¹ AB029557⁵ AF339055⁵ (see all 15)

About this table Species with no ortholog for BAX

ENSEMBL Gene Tree for BAX

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

Paralogs for BAX gene

BCL2L7P1² BCL2L2² BCL2² BCL2L1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/102 NCBI SNPs in BAX are shown (see all 102 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 54)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs4645900^1,2	C,F,H	54156175(+)	`ATCCCC/TGATTC`	5	--	int¹ ut3¹ ese³		5		NS EU EA WA	588
	rs11667351^1,2	C,F,H	54147966(+)	`AACATT/GAAATT`	5	--	ng5¹ tfbs³		8		EU EA WA	836
	rs905238^1,2	C,F,H	54157196(+)	`TCTGTA/GCGGGA`	4	--	ng3¹		15		EU EA WA NS	1654
--	rs4645904^1,2	C,F	54157305(+)	`CTGGCA/C/GTGTCA`	4	--	ng3¹		1		NS	172
	rs4645903^1,2	C,F	54157281(+)	`CCTCCG/TCGGCC`	4	--	ng3¹		1		NS	170
	rs704243^1,2	C,F	54156783(+)	`GGGACA/GTGGGC`	5	--	ng3¹ ut3¹ ese³		1		MN	184
	rs4645878^1,2	C,F	54149750(+)	`GACGGG/ACGGCT`	5	--	ng5¹ tfbs³		7		NS	592
--	rs11671610^1,2	A,C	54148092(+)	`tggagA/Tgcaag`	5	--	ng5¹ tfbs³		0	--	--	--	--
	rs36017265^1,2	F	54150784(+)	`GAATGG/CGGGGG`	5	R/G	mis¹ int¹		5		MN CSAM EA	408
--	rs11668424^1,2	C	54148852(+)	`aagccA/Gagatc`	5	--	ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for BAX (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 600040

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812

Defects in BAX are found in some cell lines from hematopoietic malignancies as T-cell

acute lymphoblastic leukemia, Burkitt lymphoma, and plasmacytoma

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
microsatellite instability	75.49	67	9500210 (4), 12378532 (3), 9849580 (2), 12866376 (2) (see all 51)
tumors	74.33	815	17295204 (7), 17352871 (5), 11712682 (5), 11759059 (5) (see all 99)
cancer	70.70	163	12120204 (3), 15832769 (3), 9890562 (3), 9863489 (3) (see all 99)
leukemia	63.02	51	9583678 (2), 9446661 (2), 18059532 (2), 9031099 (1) (see all 41)
colon cancer	62.50	63	12378532 (5), 19003586 (4), 15262986 (2), 15661804 (2) (see all 36)
breast cancer	57.62	164	17626754 (5), 11469882 (4), 9035310 (3), 10481938 (3) (see all 95)
promyelocytic leukemia	56.89	2	15231068 (1), 10874212 (1)
carcinoma squamous cell	56.44	94	9039223 (3), 10492046 (3), 9649682 (3), 17384243 (3) (see all 56)
necrosis	55.14	76	17470554 (3), 12393866 (2), 10523849 (2), 16443387 (2) (see all 63)
prostate cancer	54.78	73	18247359 (4), 16880611 (3), 16794010 (3), 9836559 (3) (see all 47)

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1 PharmGKB disease relationship for BAX gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	PD FA GN	12704389

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Human Gene Mutation Database: BAX
Genetic Association Database: BAX
Human Genome Epidemiology Navigator: BAX (26 documents)
Tumor Gene Database: BAX

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/2736 PubMed articles for BAX gene (see all 2736 ):

Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death. (PubMed id 8358790)^{2, 3, 4} Oltvai Z.N.... Korsmeyer S.J. (1993)
Humanin peptide suppresses apoptosis by interfering with Bax activation. (PubMed id 12732850)^{1, 3, 4} 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, 3, 6} Jung B....Carethers J.M. (2006)
Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis. (PubMed id 12161031)^{1, 3, 6} 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, 3, 6} 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, 3, 4} 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, 3, 6} Skogsberg S....Rosenquist R. (2006)
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, 3, 6} Saxena A....Sheridan D.P. (2002)
Elucidation of some Bax conformational changes through crystallization of an antibody-peptide complex. (PubMed id 16946732)^{3, 4} Peyerl F.W....Kappler J.W. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 581	HGNC: 959	AceView: BAX	Ensembl:ENSG00000087088	euGenes: HUgn581
ECgene: BAX	H-InvDB: BAX

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for BAX	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/bax/

Licensable Technologies for BAX
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for BAX:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for BAX-related products

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Antibodies & Assays for BAX

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	Drugs for BAX
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Antibodies for BAX

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BAX Gene

protein-coding GIFtS: 76

Aliases &
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for BAX

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for BAX

Genomic Location
for BAX

Proteins
for BAX

Protein Domains/
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for BAX

Gene Function
for BAX

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BAX Gene

protein-coding GIFtS: 76

Aliases & Descriptionsfor BAX

Summariesfor BAX

Genomic Locationfor BAX

Proteinsfor BAX

Protein Domains/Familiesfor BAX

Gene Functionfor BAX

Pathways & Interactionsfor BAX

Drugs & Compoundsfor BAX

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Expression for BAX

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Medical Newsfor BAX

Publicationsfor BAX

Search for BAX

Genome Databases showing BAX

Other Databases showing BAX

Specialized Databases showing BAX

Licensable Technologiesfor BAX

Servicesfor BAX

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BAX

Summaries
for BAX

Genomic Location
for BAX

Proteins
for BAX

Protein Domains/
Families
for BAX

Gene Function
for BAX

Pathways & Interactions
for BAX

Drugs & Compounds
for BAX

Transcripts
for BAX

Expression
for BAX

Orthologs
for BAX

Paralogs
for BAX

SNPs/Variants
for BAX

Disorders & Mutations
for BAX

Medical News
for BAX

Publications
for BAX

Licensable Technologies
for BAX

Services
for BAX