BAX (BCL2 associated X, apoptosis regulator)

基因基本信息

基因基本信息

symbol:
BAX
locus group:
protein-coding gene
location:
19q13.33
gene_family:
alias symbol:
BCL2L4
alias name:
None
entrez id:
581
ensembl gene id:
ENSG00000087088
ucsc gene id:
uc002plk.4
refseq accession:
NM_138763
hgnc_id:
HGNC:959
approved reserved:
1994-11-08

基因染色体位置

基因染色体位置

19q13.33
基因染色体位置图

基因简述

基因简述

BAX（Bcl-2-associated X protein）是Bcl-2基因家族的重要成员，属于促凋亡蛋白家族。Bcl-2家族主要调控细胞凋亡（程序性细胞死亡），其成员可分为抗凋亡蛋白（如Bcl-2、Bcl-xL）和促凋亡蛋白（如BAX、BAK）。BAX在正常情况下以单体形式存在于细胞质中，当受到凋亡信号（如DNA损伤或生长因子缺乏）刺激时，BAX会发生构象变化并转移到线粒体外膜，形成寡聚体，导致线粒体外膜通透性增加，释放细胞色素C等促凋亡因子，进而激活caspase级联反应，最终引发细胞凋亡。BAX的功能对维持组织稳态和清除异常细胞至关重要。BAX突变可能导致其促凋亡功能丧失，与多种癌症的发生发展相关，例如某些白血病和结直肠癌中BAX功能异常会导致细胞过度增殖。此外，BAX表达降低也会削弱细胞对化疗药物的敏感性。相反，BAX过表达会过度激活凋亡通路，可能导致组织损伤或退行性疾病，如神经退行性疾病。BAX与p53肿瘤 suppressor基因关系密切，p53可上调BAX表达以促进受损细胞的清除。BAX还与其他Bcl-2家族成员相互作用，其活性受到抗凋亡蛋白（如Bcl-2）的抑制，两者平衡决定了细胞命运。在癌症治疗中，靶向BAX或调节其活性是潜在策略，例如通过小分子药物激活BAX来增强肿瘤细胞对凋亡的敏感性。

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]

由该基因编码的蛋白质属于BCL2蛋白家族。 BCL2家族成员形成异源或同源二聚体和作用中所涉及的各种细胞活动，作为抗或促凋亡调节剂。此蛋白与BCL2的异二聚体，并且用作凋亡活化剂。这种蛋白质被报告进行交互，和增加的开口，线粒体电压依赖性阴离子通道（VDAC），这导致在膜电位丧失和细胞色素C的释放。该基因的表达是通过肿瘤抑制基因p53调节的，并已显示出参与了p53介导的细胞凋亡。多个可变剪接转录物变体，其编码不同同种型，已经报道了这个基因。 [由RefSeq的，2008年7月提供]

OMIM数据库中对BAX基因的介绍     Wikipedia数据库中对BAX基因的介绍

基因序列

基因序列

BAX基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

BAX基因的碱基突变：           仅显示部分snp
rs704243       rs905238       rs1009315       rs1009316       rs1010103       rs1010104       rs1057369       rs1805416       rs1805417       rs1805418       rs1805419       rs1974820       rs1985882       rs2387583       rs3817073       rs3817074       rs4645878      

基因表达

基因表达

BAX基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TTTCATCCAGGATCGAGCA
58
AATCATCCTCTGCAGCTCC
59
TACTTTGCCAGCAAACTGG
58
ATGGTTCTGATCAGTTCCG
57
CTTCAGGGTTTCATCCAGG
57
GTTACTGTCCAGTTCGTCC
57
CTACTTTGCCAGCAAACTGG
59
TGGTTCTGATCAGTTCCGG
59
GCTTCAGGGTTTCATCCAG
58
TTACTGTCCAGTTCGTCCC
59
TTCATCCAGGATCGAGCAG
59
AATCATCCTCTGCAGCTCC
59
TAACATGGAGCTGCAGAGG
59
CAGTTGAAGTTGCCGTCAG
59
TACTTTGCCAGCAAACTGG
58
TGGTTCTGATCAGTTCCGG
59
CTTCAGGGTTTCATCCAGGA
59
TTACTGTCCAGTTCGTCCC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
AATF
BAX
Repression
22909821
ABL1
BAX
Activation
11753601
ATM
BAX
Activation
16214353
DMAP1
BAX
Unknown
24559687
ELL
BAX
Repression
15851483
ERCC2
BAX
Activation
22387547
ETS1
BAX
Repression
17213822
GFI1
BAX
Repression
17213822
HIF1A
BAX
Activation
15706354
ING1
BAX
Activation
15662138; 16325212

基因本体信息

BAX基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

BAX基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0016021
H0YA56 (UniProtKB)
IEA
GO:0043065
H0YA56 (UniProtKB)
IEA
GO:0043065
I6LPK7 (UniProtKB)
IEA
GO:0016021
K4JQN1 (UniProtKB)
IEA
GO:0043065
K4JQN1 (UniProtKB)
IEA
GO:0001541
Q07812 (UniProtKB)
IEA
GO:0001541
Q07812 (UniProtKB)
IEA
GO:0001764
Q07812 (UniProtKB)
IEA
GO:0001777
Q07812 (UniProtKB)
IEA
GO:0001782
Q07812 (UniProtKB)
IEA
GO:0001783
Q07812 (UniProtKB)
IDA
GO:0001783
Q07812 (UniProtKB)
IDA
GO:0001822
Q07812 (UniProtKB)
IEA
GO:0001836
Q07812 (UniProtKB)
IDA
GO:0001836
Q07812 (UniProtKB)
IDA
GO:0001836
Q07812 (UniProtKB)
IDA
GO:0001844
Q07812 (UniProtKB)
TAS
GO:0001974
Q07812 (UniProtKB)
IEA
GO:0002262
Q07812 (UniProtKB)
IEA
GO:0002352
Q07812 (UniProtKB)
IEA
GO:0002358
Q07812 (UniProtKB)
IEA
GO:0002904
Q07812 (UniProtKB)
IEA
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005515
Q07812 (UniProtKB)
IPI
GO:0005634
Q07812 (UniProtKB)
IDA
GO:0005634
Q07812 (UniProtKB)
IMP
GO:0005635
Q07812 (UniProtKB)
IDA
GO:0005739
Q07812 (UniProtKB)
IDA
GO:0005739
Q07812 (UniProtKB)
IDA
GO:0005739
Q07812 (UniProtKB)
IDA
GO:0005739
Q07812 (UniProtKB)
IDA
GO:0005739
Q07812 (UniProtKB)
IDA
GO:0005741
Q07812 (UniProtKB)
IBA
GO:0005741
Q07812 (UniProtKB)
TAS
GO:0005741
Q07812 (UniProtKB)
TAS
GO:0005757
Q07812 (UniProtKB)
IDA
GO:0005783
Q07812 (UniProtKB)
IDA
GO:0005789
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
IDA
GO:0005829
Q07812 (UniProtKB)
TAS
GO:0005829
Q07812 (UniProtKB)
TAS
GO:0005829
Q07812 (UniProtKB)
TAS
GO:0005829
Q07812 (UniProtKB)
TAS
GO:0005829
Q07812 (UniProtKB)
TAS
GO:0006687
Q07812 (UniProtKB)
IEA
GO:0006808
Q07812 (UniProtKB)
IEA
GO:0006915
Q07812 (UniProtKB)
IMP
GO:0006915
Q07812 (UniProtKB)
IDA
GO:0006915
Q07812 (UniProtKB)
NAS
GO:0006919
Q07812 (UniProtKB)
IMP
GO:0006919
Q07812 (UniProtKB)
IDA
GO:0006927
Q07812 (UniProtKB)
IMP
GO:0006977
Q07812 (UniProtKB)
TAS
GO:0006987
Q07812 (UniProtKB)
TAS
GO:0007007
Q07812 (UniProtKB)
IEA
GO:0007008
Q07812 (UniProtKB)
IEA
GO:0007281
Q07812 (UniProtKB)
IEA
GO:0007568
Q07812 (UniProtKB)
IEA
GO:0008053
Q07812 (UniProtKB)
IDA
GO:0008289
Q07812 (UniProtKB)
IDA
GO:0008625
Q07812 (UniProtKB)
IC
GO:0008630
Q07812 (UniProtKB)
IBA
GO:0008635
Q07812 (UniProtKB)
IDA
GO:0008637
Q07812 (UniProtKB)
IDA
GO:0009566
Q07812 (UniProtKB)
IEA
GO:0009636
Q07812 (UniProtKB)
IDA
GO:0009651
Q07812 (UniProtKB)
IEA
GO:0010248
Q07812 (UniProtKB)
IDA
GO:0010332
Q07812 (UniProtKB)
IEA
GO:0015267
Q07812 (UniProtKB)
IDA
GO:0016020
Q07812 (UniProtKB)
IDA
GO:0016032
Q07812 (UniProtKB)
IEA
GO:0021854
Q07812 (UniProtKB)
IEA
GO:0021987
Q07812 (UniProtKB)
IEA
GO:0021987
Q07812 (UniProtKB)
IEA
GO:0031072
Q07812 (UniProtKB)
IEA
GO:0032091
Q07812 (UniProtKB)
IDA
GO:0032403
Q07812 (UniProtKB)
IEA
GO:0032461
Q07812 (UniProtKB)
IDA
GO:0032469
Q07812 (UniProtKB)
TAS
GO:0032471
Q07812 (UniProtKB)
IEA
GO:0032976
Q07812 (UniProtKB)
IDA
GO:0033137
Q07812 (UniProtKB)
IEA
GO:0033599
Q07812 (UniProtKB)
IEA
GO:0034349
Q07812 (UniProtKB)
IEA
GO:0034644
Q07812 (UniProtKB)
IEA
GO:0035234
Q07812 (UniProtKB)
IEA
GO:0042220
Q07812 (UniProtKB)
IEA
GO:0042475
Q07812 (UniProtKB)
IEA
GO:0042493
Q07812 (UniProtKB)
IEA
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042802
Q07812 (UniProtKB)
IPI
GO:0042803
Q07812 (UniProtKB)
IDA
GO:0042803
Q07812 (UniProtKB)
IPI
GO:0042981
Q07812 (UniProtKB)
TAS
GO:0043065
Q07812 (UniProtKB)
IMP
GO:0043496
Q07812 (UniProtKB)
IDA
GO:0043497
Q07812 (UniProtKB)
IPI
GO:0043524
Q07812 (UniProtKB)
IEA
GO:0043525
Q07812 (UniProtKB)
IDA
GO:0043653
Q07812 (UniProtKB)
IDA
GO:0045136
Q07812 (UniProtKB)
IEA
GO:0045333
Q07812 (UniProtKB)
IEA
GO:0046666
Q07812 (UniProtKB)
IEA
GO:0046688
Q07812 (UniProtKB)
IEA
GO:0046930
Q07812 (UniProtKB)
IDA
GO:0046982
Q07812 (UniProtKB)
IPI
GO:0048087
Q07812 (UniProtKB)
IEA
GO:0048147
Q07812 (UniProtKB)
IEA
GO:0048471
Q07812 (UniProtKB)
IEA
GO:0048515
Q07812 (UniProtKB)
IEA
GO:0048597
Q07812 (UniProtKB)
IEA
GO:0048678
Q07812 (UniProtKB)
IEA
GO:0048873
Q07812 (UniProtKB)
IEA
GO:0051087
Q07812 (UniProtKB)
IEA
GO:0051259
Q07812 (UniProtKB)
IDA
GO:0051260
Q07812 (UniProtKB)
IDA
GO:0051260
Q07812 (UniProtKB)
IDA
GO:0051281
Q07812 (UniProtKB)
IEA
GO:0051402
Q07812 (UniProtKB)
IEA
GO:0051412
Q07812 (UniProtKB)
IEA
GO:0051434
Q07812 (UniProtKB)
IPI
GO:0051434
Q07812 (UniProtKB)
IPI
GO:0051434
Q07812 (UniProtKB)
IDA
GO:0051881
Q07812 (UniProtKB)
IDA
GO:0060011
Q07812 (UniProtKB)
IEA
GO:0060041
Q07812 (UniProtKB)
IEA
GO:0060058
Q07812 (UniProtKB)
IEA
GO:0060068
Q07812 (UniProtKB)
IEA
GO:0070059
Q07812 (UniProtKB)
IMP
GO:0070059
Q07812 (UniProtKB)
TAS
GO:0070062
Q07812 (UniProtKB)
IDA
GO:0070062
Q07812 (UniProtKB)
IDA
GO:0070242
Q07812 (UniProtKB)
IEA
GO:0070584
Q07812 (UniProtKB)
IEA
GO:0072332
Q07812 (UniProtKB)
IEA
GO:0090200
Q07812 (UniProtKB)
IDA
GO:0097136
Q07812 (UniProtKB)
IDA
GO:0097144
Q07812 (UniProtKB)
IDA
GO:0097190
Q07812 (UniProtKB)
IDA
GO:0097191
Q07812 (UniProtKB)
IDA
GO:0097192
Q07812 (UniProtKB)
IBA
GO:0097193
Q07812 (UniProtKB)
IDA
GO:0097193
Q07812 (UniProtKB)
IDA
GO:0097296
Q07812 (UniProtKB)
IEA
GO:1900103
Q07812 (UniProtKB)
IMP
GO:1901030
Q07812 (UniProtKB)
TAS
GO:1902262
Q07812 (UniProtKB)
IEA
GO:1902263
Q07812 (UniProtKB)
IEA
GO:1902445
Q07812 (UniProtKB)
IEA
GO:1902512
Q07812 (UniProtKB)
IMP
GO:1903896
Q07812 (UniProtKB)
TAS
GO:1990117
Q07812 (UniProtKB)
IDA
GO:2001234
Q07812 (UniProtKB)
IEA
GO:2001241
Q07812 (UniProtKB)
IEA
GO:2001244
Q07812 (UniProtKB)
IMP
GO:2001244
Q07812 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 BAX基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Alzheimer's Disease 0.2 4 0 CTD_human_RGD
Acute kidney injury 0.2 2 0 CTD_human_RGD
Diabetes Mellitus, Experimental 0.2 3 0 CTD_human_RGD
Myocardial Reperfusion Injury 0.2 2 0 CTD_human_RGD
Mammary Neoplasms 0.133893193 7 0 BeFree_CTD_human_LHGDN
Colonic Neoplasms 0.131711727 8 0 BeFree_CTD_human_LHGDN
Prostatic Neoplasms 0.1254487 3 0 CTD_human_LHGDN
Esophageal Neoplasms 0.12272435 1 0 CTD_human_LHGDN
Colon Carcinoma 0.122714419 10 2 BeFree_CLINVAR
Myocardial Infarction 0.120814326 5 0 BeFree_CTD_human

基因相关服务

基因相关服务

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