AR (androgen receptor)

基因基本信息

基因基本信息

symbol:
AR
locus group:
protein-coding gene
location:
Xq12
gene_family:
Nuclear hormone receptors
alias symbol:
AIS|NR3C4|SMAX1|HUMARA
alias name:
testicular feminization|Kennedy di…
entrez id:
367
ensembl gene id:
ENSG00000169083
ucsc gene id:
uc004dwu.3
refseq accession:
NM_000044
hgnc_id:
HGNC:644
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

Xq12
基因染色体位置图

基因简述

基因简述

AR基因（雄激素受体基因）位于X染色体上（Xq11-12），属于核受体超家族中的类固醇激素受体家族。该基因编码的雄激素受体（AR）是一种配体依赖的转录因子，主要功能是介导睾酮和双氢睾酮（DHT）的信号传导，调控男性性发育、精子发生、肌肉生长等生理过程。AR蛋白包含DNA结合域（DBD）、配体结合域（LBD）和转录调控域，当雄激素结合后，AR会发生构象变化、二聚化并转入细胞核，结合靶基因启动子区的雄激素反应元件（ARE）来调控基因表达。AR基因突变可导致雄激素不敏感综合征（AIS），表现为不同程度的男性化障碍，完全型AIS患者（46,XY）会发育为女性表型。在前列腺癌中，AR基因扩增或点突变（如T878A、W742C）会导致受体对低浓度雄激素甚至抗雄激素药物（如比卡鲁胺）异常激活，促进肿瘤进展。AR还通过非基因组信号通路影响细胞增殖。AR过表达会增强雄激素信号，导致前列腺癌耐药、多毛症或男性性早熟；而AR表达降低或功能缺失则引起性发育异常、肌肉萎缩或骨质疏松。AR属于核受体NR3C亚家族（与GR、MR、PR同源），这类受体均通过结合固醇类激素调控靶基因，具有高度保守的锌指DNA结合域和C端配体结合口袋。AR的转录活性还受共激活因子（如SRC-1）和共抑制因子（如NCOR1）调控，其多聚谷氨酰胺重复序列（CAG重复数）长度与受体转录活性负相关，较长的重复数可能增加脊髓延髓肌萎缩症（SBMA）风险。

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

雄激素受体基因是超过90 kb的长码为具有3个主要的功能域的蛋白质的N-末端结构域，DNA结合域，和雄激素结合结构域。该蛋白质用作类固醇激素激活的转录因子。在结合的激素配体，受体从辅助蛋白解离，易位到细胞核中，二聚化，然后刺激的雄激素应答基因的转录。该基因包含编码多聚和聚甘氨酸束在其蛋白的N端反式激活结构域2多态型三核苷酸重复段。多聚谷氨酰胺道的膨胀导致脊髓延髓肌萎缩症（肯尼迪病）。在这个基因的突变也与完整的雄激素不敏感（CAIS）有关。两个编码不同同种型选择性剪接的变体已有描述。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

AR基因的碱基突变：           仅显示部分snp
rs781782155       rs781758747       rs781770318       rs781773886       rs781773977       rs781701550       rs781710542       rs781714749       rs781720572       rs781738730       rs781744461       rs781684887       rs781687438       rs781617213       rs781655999       rs781666281       rs781683720      

基因表达

基因表达

AR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
CTGGCTTCACAGTTTGGAG
59
AGATCAGGCAGGTCTTCTG
59
TTCTGGGTGTCACTATGGA
58
TACTTCTGTTTCCCTTCAGC
58
TTCTGGGTGTCACTATGGA
58
TACTTCTGTTTCCCTTCAGC
58
CTATCCCAGTCCCACTTGTG
60
CTTCGGGTATTTCGCATGTC
60
TATCCCAGTCCCACTTGTG
59
CAGTCTCCAAACGCATGTC
59
TATCCCAGTCCCACTTGTG
59
CAGTCTCCAAACGCATGTC
59
AAGAATCATCAGACACTAACCC
58
TGATTCAAAGGCCATGAGAC
58
TTCTGGGTGTCACTATGGA
58
TACTTCTGTTTCCCTTCAGC
58
TTCTGGGTGTCACTATGGA
58
TACTTCTGTTTCCCTTCAGC
58
ACTCTTCAGCATTAAAGCCA
58
GTTCCTTGATGTAGTTCATTCG
58

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）
AR
ACTA1
Activation
15623502
AR
AKR1C3
Repression
22971343
AR
AKT1
Activation
11278645
AR
AKT1
Repression
20589722
AR
ALDH1A3
Unknown
17526768
AR
ARG1
Activation
20711410
AR
ARG2
Activation
20711410
AR
ATAD2
Unknown
22771493
AR
BSG
Unknown
14633669
AR
BTG1
Repression
16281084

基因本体信息

AR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

AR基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003677
A0A087WUX9 (UniProtKB)
IEA
GO:0004882
A0A087WUX9 (UniProtKB)
IEA
GO:0005496
A0A087WUX9 (UniProtKB)
IEA
GO:0005634
A0A087WUX9 (UniProtKB)
IEA
GO:0006355
A0A087WUX9 (UniProtKB)
IEA
GO:0030521
A0A087WUX9 (UniProtKB)
IEA
GO:0004882
A0A087WZ66 (UniProtKB)
IEA
GO:0005496
A0A087WZ66 (UniProtKB)
IEA
GO:0005634
A0A087WZ66 (UniProtKB)
IEA
GO:0006351
A0A087WZ66 (UniProtKB)
IEA
GO:0006355
A0A087WZ66 (UniProtKB)
IEA
GO:0008270
A0A087WZ66 (UniProtKB)
IEA
GO:0030521
A0A087WZ66 (UniProtKB)
IEA
GO:0043565
A0A087WZ66 (UniProtKB)
IEA
GO:0004882
A0A087X1B6 (UniProtKB)
IEA
GO:0005496
A0A087X1B6 (UniProtKB)
IEA
GO:0005634
A0A087X1B6 (UniProtKB)
IEA
GO:0006351
A0A087X1B6 (UniProtKB)
IEA
GO:0006355
A0A087X1B6 (UniProtKB)
IEA
GO:0008270
A0A087X1B6 (UniProtKB)
IEA
GO:0030521
A0A087X1B6 (UniProtKB)
IEA
GO:0043565
A0A087X1B6 (UniProtKB)
IEA
GO:0004882
E9PEG3 (UniProtKB)
IEA
GO:0005496
E9PEG3 (UniProtKB)
IEA
GO:0005634
E9PEG3 (UniProtKB)
IEA
GO:0006351
E9PEG3 (UniProtKB)
IEA
GO:0006355
E9PEG3 (UniProtKB)
IEA
GO:0008270
E9PEG3 (UniProtKB)
IEA
GO:0030521
E9PEG3 (UniProtKB)
IEA
GO:0043565
E9PEG3 (UniProtKB)
IEA
GO:0004882
F5GZG9 (UniProtKB)
IEA
GO:0005496
F5GZG9 (UniProtKB)
IEA
GO:0005634
F5GZG9 (UniProtKB)
IEA
GO:0006351
F5GZG9 (UniProtKB)
IEA
GO:0006355
F5GZG9 (UniProtKB)
IEA
GO:0008270
F5GZG9 (UniProtKB)
IEA
GO:0030521
F5GZG9 (UniProtKB)
IEA
GO:0043565
F5GZG9 (UniProtKB)
IEA
GO:0000790
P10275 (UniProtKB)
IDA
GO:0000790
P10275 (UniProtKB)
IDA
GO:0000978
P10275 (UniProtKB)
IDA
GO:0001077
P10275 (UniProtKB)
IDA
GO:0001085
P10275 (UniProtKB)
IPI
GO:0003677
P10275 (UniProtKB)
NAS
GO:0003682
P10275 (UniProtKB)
IDA
GO:0003700
P10275 (UniProtKB)
IDA
GO:0003700
P10275 (UniProtKB)
IDA
GO:0004879
P10275 (UniProtKB)
IDA
GO:0004882
P10275 (UniProtKB)
NAS
GO:0004882
P10275 (UniProtKB)
IDA
GO:0004882
P10275 (UniProtKB)
TAS
GO:0004882
P10275 (UniProtKB)
IMP
GO:0004882
P10275 (UniProtKB)
IDA
GO:0004882
P10275 (UniProtKB)
IDA
GO:0004882
P10275 (UniProtKB)
IDA
GO:0005102
P10275 (UniProtKB)
IPI
GO:0005497
P10275 (UniProtKB)
NAS
GO:0005497
P10275 (UniProtKB)
IDA
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005515
P10275 (UniProtKB)
IPI
GO:0005634
P10275 (UniProtKB)
IDA
GO:0005634
P10275 (UniProtKB)
IDA
GO:0005634
P10275 (UniProtKB)
IDA
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005654
P10275 (UniProtKB)
TAS
GO:0005737
P10275 (UniProtKB)
IDA
GO:0005737
P10275 (UniProtKB)
IDA
GO:0005737
P10275 (UniProtKB)
IDA
GO:0005829
P10275 (UniProtKB)
TAS
GO:0005829
P10275 (UniProtKB)
TAS
GO:0006351
P10275 (UniProtKB)
IDA
GO:0006351
P10275 (UniProtKB)
IDA
GO:0006351
P10275 (UniProtKB)
IMP
GO:0006367
P10275 (UniProtKB)
TAS
GO:0006810
P10275 (UniProtKB)
TAS
GO:0007165
P10275 (UniProtKB)
TAS
GO:0007267
P10275 (UniProtKB)
TAS
GO:0007548
P10275 (UniProtKB)
NAS
GO:0008013
P10275 (UniProtKB)
IDA
GO:0008013
P10275 (UniProtKB)
IPI
GO:0008013
P10275 (UniProtKB)
TAS
GO:0008134
P10275 (UniProtKB)
IPI
GO:0008270
P10275 (UniProtKB)
IEA
GO:0008283
P10275 (UniProtKB)
NAS
GO:0008284
P10275 (UniProtKB)
IDA
GO:0008285
P10275 (UniProtKB)
IMP
GO:0010628
P10275 (UniProtKB)
IMP
GO:0016049
P10275 (UniProtKB)
NAS
GO:0019899
P10275 (UniProtKB)
IPI
GO:0019899
P10275 (UniProtKB)
IPI
GO:0030521
P10275 (UniProtKB)
IDA
GO:0030521
P10275 (UniProtKB)
IDA
GO:0030522
P10275 (UniProtKB)
IDA
GO:0030850
P10275 (UniProtKB)
NAS
GO:0042327
P10275 (UniProtKB)
IMP
GO:0043234
P10275 (UniProtKB)
IDA
GO:0044212
P10275 (UniProtKB)
IDA
GO:0044212
P10275 (UniProtKB)
IDA
GO:0044212
P10275 (UniProtKB)
IDA
GO:0045597
P10275 (UniProtKB)
IMP
GO:0045720
P10275 (UniProtKB)
IDA
GO:0045726
P10275 (UniProtKB)
IDA
GO:0045893
P10275 (UniProtKB)
IDA
GO:0045893
P10275 (UniProtKB)
IDA
GO:0045944
P10275 (UniProtKB)
IDA
GO:0045944
P10275 (UniProtKB)
IDA
GO:0045944
P10275 (UniProtKB)
IDA
GO:0045944
P10275 (UniProtKB)
IMP
GO:0045944
P10275 (UniProtKB)
IDA
GO:0045945
P10275 (UniProtKB)
IDA
GO:0046983
P10275 (UniProtKB)
NAS
GO:0051092
P10275 (UniProtKB)
IMP
GO:0051117
P10275 (UniProtKB)
IDA
GO:0051259
P10275 (UniProtKB)
IDA
GO:0090003
P10275 (UniProtKB)
IDA
GO:2001237
P10275 (UniProtKB)
IDA
GO:0004882
P10275 (UniProtKB)
IDA
GO:0030521
P10275 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 AR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
Androgen-Insensitivity Syndrome 0.541871118 185 10 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_UNIPROT
Reifenstein Syndrome 0.375472187 79 18 BeFree_CLINVAR_ORPHANET_UNIPROT
Prostatic Neoplasms 0.320998992 226 2 BeFree_CTD_human_GAD_LHGDN_RGD
Bulbo-Spinal Atrophy, X-Linked 0.280097452 140 1 BeFree_CLINVAR_GAD_ORPHANET
Malignant neoplasm of prostate 0.28 1372 12 BeFree_CLINVAR_GAD
Hypospadias 1, X-Linked 0.24 0 2 CLINVAR_CTD_human
Hypertensive disease 0.202638474 5 0 BeFree_CTD_human_GAD_RGD
Male infertility 0.187371256 55 1 BeFree_CTD_human_GAD_LHGDN
Mammary Neoplasms 0.165493578 38 0 BeFree_CTD_human_GAD_LHGDN
Atrophy, Muscular, Spinobulbar 0.149858606 110 0 BeFree_ORPHANET

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