CYP2D6 (cytochrome P450 family 2 subfamily D member 6)

基因基本信息

基因基本信息

symbol:
CYP2D6
locus group:
protein-coding gene
location:
22q13.2
gene_family:
Cytochrome P450s
alias symbol:
CPD6|P450-DB1|CYP2D|P450C2D
alias name:
None
entrez id:
1565
ensembl gene id:
ENSG00000100197
ucsc gene id:
uc003bce.4
refseq accession:
NM_000106
hgnc_id:
HGNC:2625
approved reserved:
1992-04-07

基因染色体位置

基因染色体位置

22q13.2
基因染色体位置图

基因简述

基因简述

CYP2D6属于细胞色素P450基因家族，这是一个庞大的酶家族，主要参与药物代谢和内源性物质的生物转化。CYP2D6基因位于人类第22号染色体上，编码的CYP2D6酶主要在肝脏中表达，负责代谢约25%的常用药物，包括抗抑郁药、抗精神病药、β受体阻滞剂和某些止痛药。CYP2D6的活性在不同个体间差异很大，这主要是由于基因多态性导致的。根据代谢能力，人群可分为超快代谢型、正常代谢型、中间代谢型和慢代谢型。CYP2D6基因突变可能引起酶活性改变，例如某些等位基因会导致酶活性完全丧失（如CYP2D6*4），而基因复制则可能导致超快代谢（如CYP2D6*2xN）。这些变异对药物代谢有重要影响，慢代谢型患者可能因药物蓄积而出现副作用，而超快代谢型患者则可能需要更高剂量才能达到治疗效果。CYP2D6还参与某些内源性物质的代谢，如神经递质多巴胺和5-羟色胺的代谢。CYP2D6基因多态性与多种疾病相关，包括帕金森病、某些癌症和精神疾病的风险。当CYP2D6过表达时，可能导致药物代谢过快，降低药效；而表达降低则可能导致药物蓄积和毒性增加。此外，CYP2D6的活性状态还可能影响其他药物代谢酶的表达和活性。细胞色素P450家族的共同特点是都含有血红素辅基，能够催化氧化反应，主要参与异生物质的代谢和内源性物质的生物合成或降解。了解患者的CYP2D6基因型对个体化用药具有重要意义。

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

该基因编码的酶的细胞色素P450超家族的成员。细胞色素P450蛋白是能催化涉及药物代谢和胆固醇，类固醇和其他脂类的合成许多反应单加氧酶。此蛋白质定位于内质网和已知代谢的常见的处方药多达25％。其底物包括抗抑郁药，抗精神病药，止痛剂和镇咳药，β肾上腺素受体阻断剂，antiarrythmics和止吐剂。该基因是在人类群体高度多态性;某些等位基因导致代谢表型较差，其特点是代谢酶的底物能力下降。与代谢表型可怜有些人没有功能性蛋白，因为他们携带2无效等位基因，而在其他人的基因是不存在的。这个基因可以在拷贝数和个人用超速代谢表型变化可具有该基因的3个或更多活跃的副本。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的，2014年7月提供]

OMIM数据库中对CYP2D6基因的介绍     Wikipedia数据库中对CYP2D6基因的介绍

基因序列

基因序列

CYP2D6基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CYP2D6基因的碱基突变：           仅显示部分snp
rs16947       rs16947       rs16947       rs16947       rs769258       rs769258       rs769258       rs769258       rs1058164       rs1058164       rs1058164       rs1058164       rs1058170       rs1058170       rs1058170       rs1058170       rs1058171      

基因表达

基因表达

CYP2D6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
CGTGATTCATGAGGTGCAG
59
GAGTGTCGTTCCCTTAGGG
60
CAGAGATGGAGAAGTGGTGG
60
GTAGGATCATGAGCAGGAGG
60
GAGATGGAGAAGGCCAAGG
60
GATGTAGGATCATGAGCAGGA
59
GAGATGGAGAAGGCCAAGG
60
GATGTAGGATCATGAGCAGGA
59
GAGATGGAGAAGGCCAAGG
60
GATGTAGGATCATGAGCAGGA
59
GAGATGGAGAAGGCCAAGG
60
GATGTAGGATCATGAGCAGGA
59
GAGATGGAGAAGGCCAAGG
60
ATGTAGGATCATGAGCAGGAG
59
GAGATGGAGAAGGCCAAGG
60
ATGTAGGATCATGAGCAGGAG
59
GAGATGGAGAAGGCCAAGG
60
ATGTAGGATCATGAGCAGGAG
59
GAGATGGAGAAGGCCAAGG
60
ATGTAGGATCATGAGCAGGAG
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）
HNF4A
CYP2D6
Activation
11752221
HNF4G
CYP2D6
Activation
11752221

基因本体信息

CYP2D6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

CYP2D6基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004497
A0A0G2JLK7 (UniProtKB)
IEA
GO:0005506
A0A0G2JLK7 (UniProtKB)
IEA
GO:0016021
A0A0G2JLK7 (UniProtKB)
IEA
GO:0016705
A0A0G2JLK7 (UniProtKB)
IEA
GO:0020037
A0A0G2JLK7 (UniProtKB)
IEA
GO:0055114
A0A0G2JLK7 (UniProtKB)
IEA
GO:0005506
A0A0G2JSD7 (UniProtKB)
IEA
GO:0016712
A0A0G2JSD7 (UniProtKB)
IEA
GO:0020037
A0A0G2JSD7 (UniProtKB)
IEA
GO:0055114
A0A0G2JSD7 (UniProtKB)
IEA
GO:0005506
E7ENE7 (UniProtKB)
IEA
GO:0016712
E7ENE7 (UniProtKB)
IEA
GO:0020037
E7ENE7 (UniProtKB)
IEA
GO:0055114
E7ENE7 (UniProtKB)
IEA
GO:0005506
H7BY38 (UniProtKB)
IEA
GO:0016712
H7BY38 (UniProtKB)
IEA
GO:0020037
H7BY38 (UniProtKB)
IEA
GO:0055114
H7BY38 (UniProtKB)
IEA
GO:0004497
P10635 (UniProtKB)
IDA
GO:0004497
P10635 (UniProtKB)
IDA
GO:0005506
P10635 (UniProtKB)
IEA
GO:0005739
P10635 (UniProtKB)
IDA
GO:0005783
P10635 (UniProtKB)
TAS
GO:0005789
P10635 (UniProtKB)
TAS
GO:0005789
P10635 (UniProtKB)
TAS
GO:0006805
P10635 (UniProtKB)
TAS
GO:0006805
P10635 (UniProtKB)
TAS
GO:0008144
P10635 (UniProtKB)
IDA
GO:0008202
P10635 (UniProtKB)
IMP
GO:0008392
P10635 (UniProtKB)
IBA
GO:0008395
P10635 (UniProtKB)
IBA
GO:0009804
P10635 (UniProtKB)
IDA
GO:0009820
P10635 (UniProtKB)
IDA
GO:0009822
P10635 (UniProtKB)
IDA
GO:0016098
P10635 (UniProtKB)
IDA
GO:0016491
P10635 (UniProtKB)
IDA
GO:0016491
P10635 (UniProtKB)
IDA
GO:0016491
P10635 (UniProtKB)
IDA
GO:0016712
P10635 (UniProtKB)
TAS
GO:0017144
P10635 (UniProtKB)
IMP
GO:0017144
P10635 (UniProtKB)
IDA
GO:0019369
P10635 (UniProtKB)
IBA
GO:0019825
P10635 (UniProtKB)
TAS
GO:0020037
P10635 (UniProtKB)
IDA
GO:0033076
P10635 (UniProtKB)
IDA
GO:0042737
P10635 (UniProtKB)
IDA
GO:0046483
P10635 (UniProtKB)
IDA
GO:0046483
P10635 (UniProtKB)
IDA
GO:0051100
P10635 (UniProtKB)
IDA
GO:0055114
P10635 (UniProtKB)
IDA
GO:0055114
P10635 (UniProtKB)
IDA
GO:0070330
P10635 (UniProtKB)
IEA
GO:0070989
P10635 (UniProtKB)
IDA
GO:0070989
P10635 (UniProtKB)
IDA
GO:0090350
P10635 (UniProtKB)
IDA
GO:0005506
Q38LG0 (UniProtKB)
IEA
GO:0016021
Q38LG0 (UniProtKB)
IEA
GO:0020037
Q38LG0 (UniProtKB)
IEA
GO:0055114
Q38LG0 (UniProtKB)
IEA
GO:0070330
Q38LG0 (UniProtKB)
IEA
GO:0005506
Q38LG2 (UniProtKB)
IEA
GO:0016021
Q38LG2 (UniProtKB)
IEA
GO:0020037
Q38LG2 (UniProtKB)
IEA
GO:0055114
Q38LG2 (UniProtKB)
IEA
GO:0070330
Q38LG2 (UniProtKB)
IEA
GO:0005506
Q6NWU0 (UniProtKB)
IEA
GO:0016021
Q6NWU0 (UniProtKB)
IEA
GO:0020037
Q6NWU0 (UniProtKB)
IEA
GO:0055114
Q6NWU0 (UniProtKB)
IEA
GO:0070330
Q6NWU0 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 CYP2D6基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Parkinson Disease 0.160044047 24 0 BeFree_CTD_human_GAD
Mammary Neoplasms 0.151843371 14 0 CTD_human_GAD_LHGDN
Alzheimer's Disease 0.135916719 11 0 BeFree_CTD_human_GAD_LHGDN
Basal Ganglia Diseases 0.134202192 7 0 CTD_human_GAD
Major Depressive Disorder 0.126905599 11 2 BeFree_GAD_GWASCAT
Amphetamine-Related Disorders 0.124734064 2 0 CTD_human_GAD
Tonic-Clonic Epilepsy 0.122367032 1 0 CTD_human_GAD
Substance-Related Disorders 0.122367032 2 0 CTD_human_GAD
Manganese Poisoning 0.122367032 2 0 CTD_human_GAD
Bradycardia 0.122367032 2 0 CTD_human_GAD

基因相关服务

基因相关服务

联系方式

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