WAS(Wiskott-Aldrich syndrome)

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

Xp11.4-p11.21
基因染色体位置图

基因简述

基因简述

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  的Wiskott-Aldrich公司综合征（WAS）的蛋白质家族具有相似结构域结构，并参与信号转导从细胞表面的肌动蛋白细胞骨架上的受体。许多不同的基序的存在表明，它们是由许多不同的刺激的调节，以及与多种蛋白质相互作用。最近的研究已经表明，这些蛋白质，直接或间接地关联的小GTP酶，Cdc42的，能够调节形成微丝，以及细胞骨架的组织复合物，的Arp2 / 3。 Wiskott-Aldrich公司综合征是一种罕见的遗传，X连锁隐性遗传疾病的特点是免疫失调和microthrombocytopenia，并且是由WAS基因突变引起的。该WAS基因产物是细胞质蛋白，造血细胞，其显示的信号和细胞骨架异常WAS患者表达只。所产生的作为替代的启动子的使用的结果，和包含不同的5‘端非编码区序列的转录变体，已经描述了，但是，它的全长性质是未知的。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

WAS基因的碱基序列：[NCBI]

基因突变

基因突变

WAS基因的碱基突变：           显示全部snp
rs235422       rs235423       rs2737796       rs2737799       rs2737800       rs28379745       rs35359501       rs41298466       rs55789731       rs59154508       rs112789098       rs132630271       rs138249592       rs138904063       rs139265251       rs139577358       rs139659302       rs139857045       rs140238646       rs140851093       rs141605347       rs141629445       rs141722718       rs142231772       rs143299151       rs143825543       rs143885622       rs144372473       rs145040665       rs145072740       rs145299197       rs146220228       rs148800063       rs149123892       rs149422306       rs149932808       rs149941344      
rs150520117       rs150554260       rs180938515       rs181260434       rs181475502       rs181677888       rs182270501       rs182475232       rs182671742       rs184064819       rs184217101       rs184380373       rs185798380       rs185865050       rs186722885       rs187071749       rs187207301       rs187614405       rs188356809       rs188887707       rs189073442       rs189579998       rs189608406       rs190136544       rs190513631       rs191140821       rs191967655       rs191999320       rs192079438       rs193179881       rs193922414       rs199602285       rs200261212       rs200530781       rs200543049       rs200571645       rs201085962       rs201300703       rs201454882       rs201657175       rs367960760       rs368143764       rs368151220       rs368379103       rs368523950       rs368635575       rs369059472       rs369642443       rs369654974       rs369850591       rs370010448       rs370053372       rs370188924       rs370235898       rs371005311       rs371038390       rs371262569       rs371506803       rs371765089       rs372649110       rs372779500       rs373438606       rs373491815       rs373524969       rs374035804       rs374270583       rs374283590       rs374458439       rs374574436       rs375356111       rs375987005       rs376202818       rs376560886       rs376723243       rs377126493       rs377442612       rs781790001       rs781790075       rs781792192       rs781798149       rs781799471       rs781799705       rs781801746       rs781804991       rs781808308       rs781809829       rs781813385       rs781821301       rs781829884       rs781832180       rs781839950       rs781840404       rs781840555       rs781844097       rs781847394       rs781854985       rs781855402       rs781856200       rs781858831       rs781858910       rs781860824       rs781866378       rs781868934       rs781879472       rs781880558       rs781885441       rs781887004       rs781889846       rs781893580       rs781897383       rs781898144       rs781901235       rs781902189       rs781903491       rs781910412       rs781917584       rs781918613       rs781920984       rs781927248       rs781928233       rs781930795       rs781931808       rs781932560       rs781932766       rs781934834       rs781939354       rs781942437       rs781943866       rs781948181       rs781952808       rs781954340       rs781960144       rs781965107       rs781967249       rs781969149       rs781970390       rs781971050       rs781985914       rs781988138       rs781997651       rs782001600       rs782003647       rs782004305       rs782006738       rs782010302       rs782024402       rs782024423       rs782029725       rs782032826       rs782037639       rs782041200       rs782041815       rs782048178       rs782053821       rs782056506       rs782057219       rs782060209       rs782061167       rs782068896       rs782070061       rs782071252       rs782073716       rs782076656       rs782080179       rs782082850       rs782087200       rs782087798       rs782093868       rs782095743       rs782099535       rs782102387       rs782106008       rs782106604       rs782107409       rs782109432       rs782114028       rs782115211       rs782117696       rs782137826       rs782148427       rs782149318       rs782149918       rs782152560       rs782158640       rs782164078       rs782165032       rs782166068       rs782169070       rs782174975       rs782175829       rs782181574       rs782185441       rs782185805       rs782195195       rs782199885       rs782204870       rs782214680       rs782218044       rs782224455       rs782227473       rs782233413       rs782235068       rs782236380       rs782237502       rs782244081       rs782244198       rs782246817       rs782247964       rs782249573       rs782256212       rs782257002       rs782264561       rs782267862       rs782270626       rs782271252       rs782274825       rs782280376       rs782281905       rs782286374       rs782290152       rs782290433       rs782299198       rs782301435       rs782301829       rs782303075       rs782303232       rs782303992       rs782305649       rs782307200       rs782314065       rs782320595       rs782328659       rs782334266       rs782335953       rs782336329       rs782337048       rs782343875       rs782347054       rs782347339       rs782350319       rs782363149       rs782363926       rs782366146       rs782370797       rs782370903       rs782375661       rs782380914       rs782381708       rs782383513       rs782384890       rs782386990       rs782388030       rs782392284       rs782397366       rs782405509       rs782414304       rs782415042       rs782415242       rs782420124       rs782422248       rs782423704       rs782430218       rs782436940       rs782439867       rs782445816       rs782451336       rs782451927       rs782452466       rs782454496       rs782462041       rs782466836       rs782468076       rs782484186       rs782484571       rs782486251       rs782488331       rs782489472       rs782489564       rs782501696       rs782502982       rs782503796       rs782504692       rs782507290       rs782515058       rs782517333       rs782517747       rs782525805       rs782526978       rs782527416       rs782533836       rs782542818       rs782543817       rs782544992       rs782546323       rs782550903       rs782553062       rs782555164       rs782559216       rs782559657       rs782563873       rs782572275       rs782575181       rs782575503       rs782578064       rs782578703       rs782584950       rs782587262       rs782587623       rs782593697       rs782595017       rs782596670       rs782602857       rs782605030       rs782605575       rs782605668       rs782607150       rs782615912       rs782616668       rs782631956       rs782634241       rs782636781       rs782639067       rs782640255       rs782641390       rs782643256       rs782645822       rs782656368       rs782659259       rs782666797       rs782666810       rs782670327       rs782672389       rs782677027       rs782681671       rs782681903       rs782682607       rs782683720       rs782686805       rs782693720       rs782694766       rs782699945       rs782706383       rs782707287       rs782711732       rs782714823       rs782730052       rs782730988       rs782739686       rs782741936       rs782742185       rs782745511       rs782752881       rs782761074       rs782761426       rs782767521       rs782768055       rs782775268       rs782784813       rs782789778       rs782792123       rs782793103       rs782794812       rs782798030       rs782798054       rs782798363       rs782802310       rs782803240       rs782809471       rs782810555       rs782816042      

基因表达

基因表达

WAS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
AAGCTGATATTGGTGCACC
58
GGTTGTTCACGTCAAATCC
57
CTGATATTGGTGCACCCAG
58
AGGTTGTTCACGTCAAATCC
59
CCAGCTGATAAGAAACGCTC
59
GCTGACATGCTTGAATCCA
59
CTGATATTGGTGCACCCAG
58
GGTTGTTCACGTCAAATCCA
59
AGAGGCAAAGTGGAGACAG
59
CACGTCAAATCCATTCTGGG
59
ATTCAGCTGAACAAGACCC
58
CTTCTCTTCTGCATCACGT
58
AGAGGCAAAGTGGAGACAG
59
TTCTGGATGTCCACTGTCG
59
ATTCAGCTGAACAAGACCC
58
TTCTCTTCTGCATCACGTG
58
AATTCAGCTGAACAAGACCC
59
TTCTCTTCTGCATCACGTG
58
AAGTGGAGTGGACATCCAG
59
CTTATCAGCTGGGCTAGGTC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

WAS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

WAS基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003779
C9J3B7(UniProtKB)
IEA
GO:0007015
C9J3B7(UniProtKB)
IEA
GO:2000601
C9J3B7(UniProtKB)
IEA
GO:0002625
P42768(UniProtKB)
IMP
GO:0003779
P42768(UniProtKB)
IEA
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005515
P42768(UniProtKB)
IPI
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005829
P42768(UniProtKB)
TAS
GO:0005911
P42768(UniProtKB)
IEA
GO:0006461
P42768(UniProtKB)
TAS
GO:0006952
P42768(UniProtKB)
TAS
GO:0006955
P42768(UniProtKB)
IMP
GO:0007596
P42768(UniProtKB)
TAS
GO:0008154
P42768(UniProtKB)
TAS
GO:0008544
P42768(UniProtKB)
TAS
GO:0012506
P42768(UniProtKB)
IEA
GO:0015629
P42768(UniProtKB)
TAS
GO:0016197
P42768(UniProtKB)
IEA
GO:0017124
P42768(UniProtKB)
IPI
GO:0017124
P42768(UniProtKB)
IPI
GO:0017124
P42768(UniProtKB)
IPI
GO:0017124
P42768(UniProtKB)
IPI
GO:0017124
P42768(UniProtKB)
IPI
GO:0019901
P42768(UniProtKB)
IPI
GO:0019901
P42768(UniProtKB)
IPI
GO:0019901
P42768(UniProtKB)
IPI
GO:0030041
P42768(UniProtKB)
IEA
GO:0030048
P42768(UniProtKB)
IEA
GO:0030695
P42768(UniProtKB)
TAS
GO:0038096
P42768(UniProtKB)
TAS
GO:0042110
P42768(UniProtKB)
IEA
GO:0042802
P42768(UniProtKB)
IPI
GO:0042802
P42768(UniProtKB)
IPI
GO:0043274
P42768(UniProtKB)
IPI
GO:0050790
P42768(UniProtKB)
IEA
GO:0050852
P42768(UniProtKB)
TAS
GO:0070062
P42768(UniProtKB)
IDA
GO:2000146
P42768(UniProtKB)
IMP
GO:2000601
P42768(UniProtKB)
IEA

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WAS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
Wiskott-Aldrich Syndrome 0.650317332 147 10 BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT
THROMBOCYTOPENIA 1 (disorder) 0.491867498 36 4 BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT
Neutropenia, Severe Congenital, X-Linked 0.48 2 4 CLINVAR_CTD_human_ORPHANET_UNIPROT
Thrombocytopenia, X-Linked, Intermittent 0.12 0 2 CLINVAR
IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1 0.08 0 0 MGD
Thrombocytopenia 0.013621751 5 0 LHGDN
Immunologic Deficiency Syndromes 0.004267125 8 0 BeFree_GAD
Neutropenia 0.00408156 6 1 BeFree_LHGDN
Primary immune deficiency disorder 0.002985861 11 0 BeFree
Severe Combined Immunodeficiency 0.002367032 1 0 GAD
Eczema 0.001357209 5 0 BeFree
Leukopenia 0.001357209 5 1 BeFree
Marijuana Abuse 0.001357209 5 0 BeFree
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) 0.001357209 5 0 BeFree
Malignant neoplasm of breast 0.001085767 4 0 BeFree
HIV Infections 0.001085767 4 0 BeFree
Breast Carcinoma 0.001085767 4 0 BeFree
Autoimmune Diseases 0.000814326 3 0 BeFree
Mycoses 0.000814326 3 0 BeFree
Neoplasm Metastasis 0.000814326 3 0 BeFree
Congenital thrombocytopenia 0.000814326 3 0 BeFree
Congenital neutropenia 0.000814326 3 0 BeFree
Severe congenital neutropenia 0.000814326 3 0 BeFree
Alzheimer's Disease 0.000542884 2 0 BeFree
Arthritis 0.000542884 2 0 BeFree
Blood Platelet Disorders 0.000542884 2 0 BeFree
Colitis 0.000542884 2 0 BeFree
Brain Neoplasms 0.000271442 1 0 BeFree
Malignant tumor of colon 0.000271442 1 0 BeFree
Dermatitis, Atopic 0.000271442 1 0 BeFree
Drug abuse 0.000271442 1 0 BeFree
Eclampsia 0.000271442 1 0 BeFree
Failure to Thrive 0.000271442 1 0 BeFree
Glioma 0.000271442 1 0 BeFree
Immune System Diseases 0.000271442 1 0 BeFree
Inflammatory Bowel Diseases 0.000271442 1 0 BeFree
Influenza 0.000271442 1 0 BeFree
Leukemia, Myelocytic, Acute 0.000271442 1 0 BeFree
Myelodysplasia 0.000271442 1 1 BeFree
Neuroblastoma 0.000271442 1 0 BeFree
Obesity 0.000271442 1 0 BeFree
Preleukemia 0.000271442 1 1 BeFree
Protein Deficiency 0.000271442 1 0 BeFree
Psychotic Disorders 0.000271442 1 1 BeFree
Gilles de la Tourette syndrome 0.000271442 1 0 BeFree
Pelvic Inflammatory Disease 0.000271442 1 0 BeFree
HIV Wasting Syndrome 0.000271442 1 0 BeFree
Nonorganic psychosis 0.000271442 1 1 BeFree
Combined immunodeficiency 0.000271442 1 0 BeFree
Colon Carcinoma 0.000271442 1 0 BeFree
Central neuroblastoma 0.000271442 1 0 BeFree
Pneumocystis Infections 0.000271442 1 0 BeFree
Arthritis, Experimental 0.000271442 1 0 BeFree
Lymphocytic infiltration 0.000271442 1 0 BeFree
Glioblastoma Multiforme 0.000271442 1 0 BeFree
THROMBOCYTOPENIA 2 (disorder) 0.000271442 1 0 BeFree
Liver carcinoma 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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