AVPR2(arginine vasopressin receptor 2) 转至新版数据库

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

Xq28
基因染色体位置图

基因简述

基因简述

This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  该基??因编码的加压素受体，2型，也称为V2受体，属于七跨膜结构域G蛋白偶联受体（GPCR）超家族，并耦合到GS从而刺激腺苷酸环化酶。包含V2受体时，V1A和V1B加压素受体时，催产素受体和isotocin和mesotocin受体在非哺乳动物的亚科，是非常保守的，虽然几个成员通过其他的G蛋白信号。所有绑定类似的环状九肽激素。的V2受体在肾小管中表达，主要在远曲小管和收集管，其中它的主要属性是通过刺激该集中的尿液和保持在生物体水动态平衡机制，垂体激素精氨酸加压素（AVP）响应。当该基因的功能丧失，疾病肾性尿崩症（NDI）的结果。在V2受体也表达了外肾虽然它的组织定位是不确定的。当这些“肾外受体”由V2选择性激动剂（氨加压素）的输注刺激，各种凝血因子被释放到血液中。此属性的生理重要性未知 - 它的缺失不会出现有害于NDI的患者。基因表达也已经在胎儿肺组织和与剪接相关肺癌说明。 [由RefSeq的，2008年7月提供]

OMIM数据库中对AVPR2基因的介绍     Wikipedia数据库中对AVPR2基因的介绍

基因序列

基因序列

AVPR2基因的碱基序列：[NCBI]

基因突变

基因突变

AVPR2基因的碱基突变：           显示全部snp
rs782812903       rs782806507       rs782790439       rs782804017       rs782805998       rs782789114       rs782790309       rs782787554       rs782787018       rs782786048       rs782773393       rs782778975       rs782764561       rs782769563       rs782757546       rs782763873       rs782753911       rs782754433       rs782746770       rs782737290       rs782743112       rs782736113       rs782732483       rs782735128       rs782727158       rs782726559       rs782726046       rs782715616       rs782725864       rs782712070       rs782713393       rs782703911       rs782689915       rs782691484       rs782682002       rs782670498       rs782680412      
rs782663353       rs782650466       rs782657927       rs782635971       rs782643586       rs782632602       rs782629212       rs782631435       rs782625474       rs782608859       rs782616366       rs782602469       rs782606450       rs782601165       rs782601647       rs782599529       rs782598402       rs782599077       rs782584868       rs782587977       rs782566354       rs782571215       rs782575523       rs782555353       rs782565222       rs782548398       rs782549298       rs782542190       rs782545799       rs782528887       rs782521961       rs782525937       rs782520962       rs782519298       rs782520608       rs782516523       rs782511391       rs782515038       rs782507765       rs782500823       rs782503517       rs782499321       rs782487042       rs782494738       rs782485650       rs782476545       rs782482037       rs782471209       rs782472377       rs782464773       rs782470949       rs782459549       rs782458969       rs782450624       rs782453202       rs782449874       rs782449004       rs782434973       rs782422176       rs782425427       rs782417848       rs782399367       rs782412366       rs782394141       rs782395499       rs782392491       rs782386164       rs782385980       rs782385020       rs782372583       rs782384383       rs782366900       rs782369377       rs782366055       rs782358561       rs782356145       rs782356791       rs782353363       rs782334839       rs782351648       rs782329714       rs782322817       rs782323704       rs782317126       rs782317551       rs782320315       rs782299416       rs782316511       rs782297695       rs782294789       rs782293802       rs782289888       rs782291586       rs782278964       rs782288868       rs782267693       rs782277775       rs782266628       rs782259759       rs782262014       rs782259416       rs782256487       rs782257713       rs782253794       rs782247560       rs782247846       rs782238717       rs782224593       rs782233997       rs782222134       rs782221263       rs782217050       rs782207102       rs782214044       rs782205759       rs782202028       rs782204150       rs782190462       rs782201621       rs782182069       rs782184052       rs782160409       rs782171420       rs782151919       rs782151840       rs782151703       rs782144511       rs782145646       rs782141948       rs782137775       rs782138397       rs782134749       rs782128197       rs782128961       rs782117311       rs782108263       rs782109950       rs782106562       rs782107600       rs782106286       rs782100915       rs782103110       rs782100192       rs782096959       rs782077927       rs782083153       rs782075314       rs782069257       rs782060693       rs782064506       rs782055647       rs782054894       rs782052413       rs782041772       rs782038329       rs782034441       rs782030806       rs782026554       rs782026322       rs782022257       rs782024865       rs782015883       rs782020897       rs781996624       rs781992482       rs781995469       rs781991670       rs781987761       rs781991255       rs781982808       rs781979226       rs781981680       rs781974277       rs781965078       rs781972447       rs781956131       rs781960162       rs781955804       rs781953004       rs781953574       rs781950164       rs781946240       rs781948819       rs781941435       rs781942628       rs781938467       rs781939531       rs781931855       rs781937818       rs781915907       rs781918940       rs781902048       rs781891175       rs781891091       rs781877326       rs781880175       rs781876361       rs781868510       rs781875789       rs781848008       rs781842645       rs781840600       rs781839391       rs781839968       rs781836997       rs781837679       rs781825601       rs781834190       rs781810486       rs781806355       rs781808434       rs781802386       rs781795563       rs781801367       rs781791407       rs781793765       rs781788125       rs564655454       rs551628248       rs547956204       rs529238276       rs377293345       rs377695589       rs377274816       rs376864452       rs376198408       rs375962458       rs376107104       rs375807677       rs374561268       rs375318450       rs374156824       rs374461463       rs374487946       rs373990379       rs373987559       rs373752253       rs373390935       rs372862838       rs372260195       rs372274460       rs371688834       rs371911720       rs370880911       rs370616859       rs370179672       rs368996823       rs368544649       rs368567969       rs367681688       rs368306347       rs201810684       rs201419746       rs201053959       rs199932780       rs199691828       rs192991392       rs192467179       rs191826947       rs191397917       rs191116415       rs190617009       rs190245079       rs190200507       rs189443009       rs189315606       rs188934278       rs187006307       rs186986494       rs186676495       rs186529474       rs185267257       rs185149860       rs183665060       rs183264822       rs182419698       rs182414543       rs182397120       rs181799634       rs181380839       rs181040033       rs180974207       rs150670443       rs151275155       rs150351033       rs149668713       rs149557877       rs148534516       rs146892293       rs148230511       rs146350208       rs146238429       rs145953185       rs145437009       rs144674821       rs144300130       rs143480277       rs143776302       rs143055328       rs142200765       rs142251323       rs142185527       rs141876414       rs141232538       rs140156037       rs138974323       rs140075460       rs138461346       rs138019778       rs138122323       rs113329259       rs113115774       rs111643041       rs112109182       rs80002639       rs104894761       rs74553119       rs79661338       rs73640839       rs73627255       rs61748993       rs61733408       rs61733407       rs57650984       rs58340214       rs56689668       rs55712963       rs34709504       rs13306213       rs13306212       rs12559136       rs12011997       rs4898458       rs4898372       rs3761529       rs3761528       rs3761527       rs2872601       rs2234695       rs2071126       rs762655       rs5204       rs5203       rs5202       rs5201       rs5200       rs5199       rs5198       rs5197       rs5196       rs782805285       rs782677402       rs782639263       rs782584856       rs782427103       rs782404692       rs782395021       rs782335224       rs782285038       rs782253181       rs782147007       rs782080166       rs782034775       rs782006587       rs781853683       rs781821551       rs781796044       rs781793518       rs537365615       rs534405336       rs189700496       rs186155399       rs184401408       rs181925621       rs181175285       rs113332267       rs73627265       rs73627263       rs62620964      

基因表达

基因表达

AVPR2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
正向引物Tm值
反向引物序列
反向引物Tm值
rank
ATTGAACTTGCTCCTCAGG
57
ATCCAGGTGACATAGGTGC
59
CTGTGAGGATGACGCTAGG
60
GAAAGATGCATAGATCCAGGG
58
CTGTGAGGATGACGCTAGG
60
CTGAAAGATGCATAGATCCAGG
59
CCTATGTCACCTGGATTGC
58
AATCTCCCGGAAGATGAGC
59
CCATTGAACTTGCTCCTCAG
59
ATCCAGGTGACATAGGTGC
59
TGTGGTCGTCTATGTGCTG
60
CATGAGTAGCACAAAGGGC
59
AAGACTGTGAGGATGACGC
60
GAAAGATGCATAGATCCAGGG
58
CATTGAACTTGCTCCTCAGG
59
ATCCAGGTGACATAGGTGC
59
TGGTCGTCTATGTGCTGTG
60
AACATGAGTAGCACAAAGGG
58
TATGTCACCTGGATTGCCC
60
AATCTCCCGGAAGATGAGC
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

AVPR2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

AVPR2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005000
C9JV81(UniProtKB)
IEA
GO:0007186
C9JV81(UniProtKB)
IEA
GO:0016021
C9JV81(UniProtKB)
IEA
GO:0001992
P30518(UniProtKB)
IBA
GO:0003084
P30518(UniProtKB)
IEA
GO:0003091
P30518(UniProtKB)
TAS
GO:0005000
P30518(UniProtKB)
TAS
GO:0005515
P30518(UniProtKB)
IPI
GO:0005515
P30518(UniProtKB)
IPI
GO:0005768
P30518(UniProtKB)
TAS
GO:0005783
P30518(UniProtKB)
TAS
GO:0005794
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005886
P30518(UniProtKB)
TAS
GO:0005887
P30518(UniProtKB)
TAS
GO:0007188
P30518(UniProtKB)
TAS
GO:0007190
P30518(UniProtKB)
TAS
GO:0007249
P30518(UniProtKB)
IEA
GO:0007588
P30518(UniProtKB)
TAS
GO:0007599
P30518(UniProtKB)
TAS
GO:0008284
P30518(UniProtKB)
IEA
GO:0010628
P30518(UniProtKB)
ISS
GO:0016021
P30518(UniProtKB)
NAS
GO:0021537
P30518(UniProtKB)
IEA
GO:0031398
P30518(UniProtKB)
NAS
GO:0032609
P30518(UniProtKB)
IEA
GO:0032870
P30518(UniProtKB)
IBA
GO:0034097
P30518(UniProtKB)
IEA
GO:0035811
P30518(UniProtKB)
IEA
GO:0035814
P30518(UniProtKB)
IEA
GO:0042277
P30518(UniProtKB)
IBA
GO:0045907
P30518(UniProtKB)
IBA
GO:1901652
P30518(UniProtKB)
IBA

基因相互作用关系

基因相互作用关系

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

基因相关microRNA

基因相关microRNA

可能调控AVPR2基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

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
Nephrogenic Syndrome of Inappropriate Antidiuresis 0.481085767 5 2 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Nephrogenic Diabetes Insipidus 0.402629813 66 16 BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET
Nephrogenic Diabetes Insipidus, Type I 0.335472187 71 16 BeFree_CLINVAR_MGD_UNIPROT
Heart failure 0.120271442 2 0 BeFree_CTD_human
Congenital adrenal hyperplasia 0.12 1 0 CTD_human
Growth Disorders 0.12 1 0 CTD_human
Oliguria 0.12 1 0 CTD_human
Cardiomyopathies 0.12 1 0 CTD_human
Hypertensive disease 0.08 1 0 RGD
Congenital Nephrogenic Diabetes Insipidus 0.007871814 29 2 BeFree
Enuresis 0.00272435 1 0 LHGDN
Polyuria 0.001085767 4 0 BeFree
Central Diabetes Insipidus 0.001085767 4 0 BeFree
Dehydration 0.000814326 3 0 BeFree
Diabetes Insipidus 0.000814326 3 0 BeFree
Failure to Thrive 0.000542884 2 0 BeFree
Cystic kidney 0.000542884 2 0 BeFree
Mental Retardation 0.000542884 2 0 BeFree
Adrenal Gland Neoplasms 0.000271442 1 0 BeFree
Congenital chromosomal disease 0.000271442 1 0 BeFree
Gaucher Disease 0.000271442 1 0 BeFree
Congestive heart failure 0.000271442 1 0 BeFree
Osteomalacia 0.000271442 1 0 BeFree
Pituitary Diseases 0.000271442 1 0 BeFree
Polydipsia 0.000271442 1 0 BeFree
Azotemia 0.000271442 1 0 BeFree
Bedwetting 0.000271442 1 0 BeFree
Prerenal uremia syndrome 0.000271442 1 0 BeFree
Hyponatraemic 0.000271442 1 2 BeFree
Growth failure 0.000271442 1 0 BeFree
Hypophosphatemic Rickets 0.000271442 1 0 BeFree
Familial Hypophosphatemic Rickets 0.000271442 1 0 BeFree
Vitamin D-Resistant Rickets, X-Linked 0.000271442 1 0 BeFree
Rickets, X-Linked Hypophosphatemic 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

基因相关服务

基因相关服务

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