DRD2 (dopamine receptor D2)

基因基本信息

基因基本信息

symbol:
DRD2
locus group:
protein-coding gene
location:
11q23.2
gene_family:
Dopamine receptors
alias symbol:
None
alias name:
None
entrez id:
1813
ensembl gene id:
ENSG00000149295
ucsc gene id:
uc001poa.5
refseq accession:
NM_000795
hgnc_id:
HGNC:3023
approved reserved:
1989-02-23

基因染色体位置

基因染色体位置

11q23.2
基因染色体位置图

基因简述

基因简述

DRD2（多巴胺受体D2）基因编码多巴胺D2受体，属于G蛋白偶联受体家族中的多巴胺受体家族。该家族共有五种亚型（D1-D5），共同特点是介导多巴胺神经递质信号传导，参与运动控制、情绪调节和奖赏机制等生理过程。DRD2主要分布在大脑纹状体、伏隔核等区域，通过抑制腺苷酸环化酶活性来调节神经元兴奋性。其生物学功能包括调控运动协调性、认知功能和药物成瘾行为，在精神分裂症和帕金森病中起关键作用。DRD2基因突变可能导致受体功能异常，如Taq1A多态性与精神分裂症风险增加相关，某些突变还会降低抗精神病药物疗效。该基因表达异常与多种神经精神疾病密切相关：表达不足可能引发帕金森病运动症状，而过表达则与精神分裂症阳性症状（如幻觉妄想）相关。DRD2还参与调节其他神经递质系统，其表达水平变化会影响谷氨酸能、GABA能神经元的活动。在药物成瘾中，DRD2表达下调会导致奖赏系统敏感性改变。该基因也是抗精神病药物（如氟哌啶醇）的主要靶点，通过阻断D2受体发挥作用。值得注意的是，DRD2存在两种剪接变体（D2长型和短型），它们在信号传导效率和分布位置上存在差异，这种多样性增加了其在神经系统中的功能复杂性。

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

该基因编码多巴胺受体的D2亚型。偶联受体该G蛋白抑制腺苷酸环化酶活性。在这个基因的错义突变导致肌阵挛性肌张力障碍;其他突变已与精神分裂症有关。两个转录本基因导致选择性剪接变异体编码不同亚型。第三种变体进行了说明，但它尚未确定这种形式是正常还是由于异常剪接。 [由RefSeq的，2008年7月提供]

OMIM数据库中对DRD2基因的介绍     Wikipedia数据库中对DRD2基因的介绍

基因序列

基因序列

DRD2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

DRD2基因的碱基突变：           仅显示部分snp
rs6273       rs6274       rs6275       rs6276       rs6277       rs6278       rs6279       rs1076560       rs1076561       rs1076562       rs1076563       rs1079594       rs1079595       rs1079596       rs1079597       rs1079598       rs1079721      

基因表达

基因表达

DRD2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
ATCGACAGGTACACAGCTG
60
ATGGAGATCATGACGGTGAC
60
CACTAAAGGGCAACTGTACTC
59
TGTTCACTGGGAAACTCCC
60
CACTAAAGGGCAACTGTACTC
59
TGTTCACTGGGAAACTCCC
60
CTACCTGGAGGTGGTAGGT
60
CACAAGTTCAGGATGCTCG
59
ATCGACAGACCAGAACGAG
59
GAAGGGCACGTAGAAGGAG
60
CTACCTGATCGTCAGCCTC
59
ATTTCCACTCACCTACCTCC
59
CACTAAAGGGCAACTGTACTC
59
TGTTCACTGGGAAACTCCC
60
CTACCTGGAGGTGGTAGGT
60
CACAAGTTCAGGATGCTCG
59
GACTCAATAACGCAGACCAG
59
CGTAGAAGGAGACGATGGAG
60
CACTAAAGGGCAACTGTACTC
59
TGTTCACTGGGAAACTCCC
60

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）
NFKB1
DRD2
Unknown
17317773; 18354387
RELA
DRD2
Unknown
17317773; 18354387

基因本体信息

DRD2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

DRD2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004952
F8VUV1 (UniProtKB)
IEA
GO:0005887
F8VUV1 (UniProtKB)
IEA
GO:0007195
F8VUV1 (UniProtKB)
IEA
GO:0001591
P14416 (UniProtKB)
IDA
GO:0001591
P14416 (UniProtKB)
IDA
GO:0001591
P14416 (UniProtKB)
IDA
GO:0001659
P14416 (UniProtKB)
ISS
GO:0001666
P14416 (UniProtKB)
IEA
GO:0001669
P14416 (UniProtKB)
IEA
GO:0001963
P14416 (UniProtKB)
IBA
GO:0001975
P14416 (UniProtKB)
ISS
GO:0001976
P14416 (UniProtKB)
ISS
GO:0002027
P14416 (UniProtKB)
ISS
GO:0002028
P14416 (UniProtKB)
ISS
GO:0002031
P14416 (UniProtKB)
IEA
GO:0002052
P14416 (UniProtKB)
ISS
GO:0002092
P14416 (UniProtKB)
IEA
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005515
P14416 (UniProtKB)
IPI
GO:0005622
P14416 (UniProtKB)
IEA
GO:0005622
P14416 (UniProtKB)
IEA
GO:0005829
P14416 (UniProtKB)
IEA
GO:0005886
P14416 (UniProtKB)
IDA
GO:0005886
P14416 (UniProtKB)
TAS
GO:0005886
P14416 (UniProtKB)
TAS
GO:0005886
P14416 (UniProtKB)
TAS
GO:0005886
P14416 (UniProtKB)
TAS
GO:0005887
P14416 (UniProtKB)
IC
GO:0005887
P14416 (UniProtKB)
IC
GO:0005887
P14416 (UniProtKB)
IDA
GO:0006874
P14416 (UniProtKB)
IC
GO:0007194
P14416 (UniProtKB)
IEA
GO:0007194
P14416 (UniProtKB)
IDA
GO:0007194
P14416 (UniProtKB)
IDA
GO:0007195
P14416 (UniProtKB)
IDA
GO:0007195
P14416 (UniProtKB)
IDA
GO:0007195
P14416 (UniProtKB)
IDA
GO:0007195
P14416 (UniProtKB)
IDA
GO:0007195
P14416 (UniProtKB)
IDA
GO:0007270
P14416 (UniProtKB)
ISS
GO:0007409
P14416 (UniProtKB)
ISS
GO:0007416
P14416 (UniProtKB)
ISS
GO:0007608
P14416 (UniProtKB)
ISS
GO:0007616
P14416 (UniProtKB)
IEA
GO:0007625
P14416 (UniProtKB)
IEA
GO:0007626
P14416 (UniProtKB)
ISS
GO:0007628
P14416 (UniProtKB)
ISS
GO:0007631
P14416 (UniProtKB)
IEA
GO:0008104
P14416 (UniProtKB)
ISS
GO:0008144
P14416 (UniProtKB)
IDA
GO:0008285
P14416 (UniProtKB)
ISS
GO:0008306
P14416 (UniProtKB)
ISS
GO:0008542
P14416 (UniProtKB)
ISS
GO:0009416
P14416 (UniProtKB)
ISS
GO:0009636
P14416 (UniProtKB)
IBA
GO:0010039
P14416 (UniProtKB)
IEA
GO:0014059
P14416 (UniProtKB)
IBA
GO:0014069
P14416 (UniProtKB)
IEA
GO:0014854
P14416 (UniProtKB)
IEA
GO:0015459
P14416 (UniProtKB)
NAS
GO:0016055
P14416 (UniProtKB)
IEA
GO:0016328
P14416 (UniProtKB)
IEA
GO:0021756
P14416 (UniProtKB)
IEA
GO:0021769
P14416 (UniProtKB)
IEA
GO:0021853
P14416 (UniProtKB)
ISS
GO:0021984
P14416 (UniProtKB)
ISS
GO:0030139
P14416 (UniProtKB)
IEA
GO:0030336
P14416 (UniProtKB)
ISS
GO:0030424
P14416 (UniProtKB)
ISS
GO:0030425
P14416 (UniProtKB)
ISS
GO:0030432
P14416 (UniProtKB)
ISS
GO:0030672
P14416 (UniProtKB)
IBA
GO:0030814
P14416 (UniProtKB)
IDA
GO:0031223
P14416 (UniProtKB)
IEA
GO:0031513
P14416 (UniProtKB)
IDA
GO:0032147
P14416 (UniProtKB)
IEA
GO:0032228
P14416 (UniProtKB)
ISS
GO:0032467
P14416 (UniProtKB)
IMP
GO:0032922
P14416 (UniProtKB)
ISS
GO:0033602
P14416 (UniProtKB)
IEA
GO:0034776
P14416 (UniProtKB)
IDA
GO:0035094
P14416 (UniProtKB)
IEA
GO:0035240
P14416 (UniProtKB)
IBA
GO:0035255
P14416 (UniProtKB)
IEA
GO:0035556
P14416 (UniProtKB)
IDA
GO:0035556
P14416 (UniProtKB)
IDA
GO:0035810
P14416 (UniProtKB)
IEA
GO:0035815
P14416 (UniProtKB)
IEA
GO:0036126
P14416 (UniProtKB)
IEA
GO:0040018
P14416 (UniProtKB)
IEA
GO:0042220
P14416 (UniProtKB)
ISS
GO:0042321
P14416 (UniProtKB)
IEA
GO:0042417
P14416 (UniProtKB)
IC
GO:0042493
P14416 (UniProtKB)
ISS
GO:0042493
P14416 (UniProtKB)
IBA
GO:0042802
P14416 (UniProtKB)
IPI
GO:0042803
P14416 (UniProtKB)
IEA
GO:0043197
P14416 (UniProtKB)
IEA
GO:0043204
P14416 (UniProtKB)
IEA
GO:0043266
P14416 (UniProtKB)
ISS
GO:0043266
P14416 (UniProtKB)
IBA
GO:0043278
P14416 (UniProtKB)
ISS
GO:0043473
P14416 (UniProtKB)
IEA
GO:0043666
P14416 (UniProtKB)
IEA
GO:0043679
P14416 (UniProtKB)
IEA
GO:0045745
P14416 (UniProtKB)
IEA
GO:0045776
P14416 (UniProtKB)
ISS
GO:0045824
P14416 (UniProtKB)
IEA
GO:0045944
P14416 (UniProtKB)
IEA
GO:0046488
P14416 (UniProtKB)
ISS
GO:0046676
P14416 (UniProtKB)
IEA
GO:0046982
P14416 (UniProtKB)
IEA
GO:0048148
P14416 (UniProtKB)
ISS
GO:0048148
P14416 (UniProtKB)
IBA
GO:0048149
P14416 (UniProtKB)
ISS
GO:0048149
P14416 (UniProtKB)
IBA
GO:0048169
P14416 (UniProtKB)
ISS
GO:0048678
P14416 (UniProtKB)
IEA
GO:0048755
P14416 (UniProtKB)
ISS
GO:0050482
P14416 (UniProtKB)
IDA
GO:0050709
P14416 (UniProtKB)
IDA
GO:0051209
P14416 (UniProtKB)
ISS
GO:0051481
P14416 (UniProtKB)
IBA
GO:0051482
P14416 (UniProtKB)
IDA
GO:0051482
P14416 (UniProtKB)
IDA
GO:0051584
P14416 (UniProtKB)
IC
GO:0051586
P14416 (UniProtKB)
ISS
GO:0051823
P14416 (UniProtKB)
IEA
GO:0051898
P14416 (UniProtKB)
ISS
GO:0051898
P14416 (UniProtKB)
NAS
GO:0051967
P14416 (UniProtKB)
ISS
GO:0051967
P14416 (UniProtKB)
IBA
GO:0060124
P14416 (UniProtKB)
ISS
GO:0060134
P14416 (UniProtKB)
ISS
GO:0060158
P14416 (UniProtKB)
IGI
GO:0060160
P14416 (UniProtKB)
ISS
GO:0060170
P14416 (UniProtKB)
IDA
GO:0070374
P14416 (UniProtKB)
IEA
GO:0090325
P14416 (UniProtKB)
IEA
GO:0099565
P14416 (UniProtKB)
NAS
GO:1900168
P14416 (UniProtKB)
IDA
GO:1900273
P14416 (UniProtKB)
IEA
GO:1901386
P14416 (UniProtKB)
IEA
GO:1901386
P14416 (UniProtKB)
IDA
GO:0004935
P14416 (UniProtKB)
IBA
GO:0071880
P14416 (UniProtKB)
IBA
GO:0004952
Q6LDH7 (UniProtKB)
IEA
GO:0005887
Q6LDH7 (UniProtKB)
IEA
GO:0007212
Q6LDH7 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 DRD2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

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
Schizophrenia 0.291131658 162 12 BeFree_CTD_human_GAD_LHGDN
Myoclonic dystonia 0.241628651 6 0 BeFree_CTD_human_ORPHANET
Parkinson Disease 0.238958279 22 0 BeFree_CTD_human_GAD_RGD
Cocaine-Related Disorders 0.204734064 13 0 CTD_human_GAD_RGD
Alcoholic Intoxication, Chronic 0.203722004 163 7 BeFree_GAD_LHGDN_RGD
Dyskinesia, Drug-Induced 0.202367032 5 0 CTD_human_GAD_RGD
Parkinsonian Disorders 0.2 4 0 CTD_human_RGD
Tachycardia 0.2 3 0 CTD_human_RGD
Attention deficit hyperactivity disorder 0.155461872 34 5 BeFree_CTD_human_GAD
Tobacco Use Disorder 0.148404384 13 1 CTD_human_GAD

基因相关服务

基因相关服务

联系方式

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