ESPN(espin)

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

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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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1p36.31
基因染色体位置图

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]

[中文简述(自动翻译):]  该基因编码一个多功能的肌动蛋白捆绑。它在调节机构,尺寸,动力和信号的肌动蛋白丝丰富,微绒毛型专业调解各种mechanosensory和化学感受细胞的感官转导能力的重大作用。在这个基因的突变与常染色体隐性遗传性耳聋感觉神经,和常染色体显性遗传耳聋无前庭受累相关。 [由RefSeq的,2009年11月提供]

ESPN基因的碱基序列:[NCBI]
ESPN基因的碱基突变:           显示全部snp
rs932402       rs1059332       rs1318338       rs1810437       rs2003071       rs2003072       rs2006010       rs2076480       rs2103673       rs2148966       rs2148967       rs2311028       rs2311035       rs2311043       rs2311044       rs2311045       rs2871653       rs2986734       rs2986735       rs2986736       rs2986737       rs2986758       rs3007412       rs3007413       rs3007414       rs3007415       rs3138157       rs3138158       rs3138159       rs3810984       rs3810985       rs3817909       rs3817910       rs3817911       rs3817912       rs3817914       rs3817918      
rs3817921       rs3982071       rs3982072       rs3982073       rs4071579       rs4071608       rs4908551       rs4908552       rs4908893       rs4908894       rs4908895       rs6577576       rs6577577       rs6661999       rs6664393       rs6667227       rs6670679       rs6670977       rs6672924       rs6673748       rs6676412       rs6678405       rs6685095       rs7412129       rs7418720       rs7516993       rs7537372       rs7544888       rs9434769       rs9434773       rs9434774       rs9434775       rs9435258       rs9435259       rs9435265       rs9435266       rs10864548       rs11121849       rs11121873       rs11121875       rs11121879       rs11121884       rs11556816       rs11803246       rs11803273       rs11808505       rs11808508       rs11809075       rs12074379       rs12075883       rs12079748       rs12079754       rs12079984       rs12085643       rs12092014       rs12095623       rs12095686       rs12732682       rs28380166       rs28502030       rs33988115       rs34064241       rs34557220       rs34685056       rs34920744       rs35066669       rs35289482       rs36046463       rs36064159       rs41278010       rs45481403       rs45518941       rs45526846       rs45559234       rs45625937       rs55787716       rs55884073       rs55924086       rs56034722       rs56054618       rs56805980       rs56843223       rs58050298       rs58081810       rs58993432       rs60316984       rs60576561       rs61780701       rs61780702       rs61780703       rs61780704       rs61780705       rs61780707       rs61780708       rs61780709       rs61780710       rs61780713       rs71629790       rs71629791       rs71629792       rs72633466       rs72633468       rs72633469       rs72859999       rs72861511       rs72861512       rs72861514       rs72861516       rs72861518       rs74049569       rs74049570       rs74049571       rs74049573       rs74049574       rs74049575       rs74049576       rs74049577       rs74049579       rs74049580       rs74049583       rs74709537       rs75015374       rs75033213       rs75242862       rs75460128       rs75483573       rs75508567       rs75827056       rs75895764       rs76032421       rs76067072       rs76278236       rs76353875       rs76593486       rs76674931       rs76722424       rs76727185       rs76747981       rs76765830       rs77028675       rs77170132       rs77249271       rs77265628       rs77436612       rs77458630       rs77547615       rs77565149       rs77656032       rs77758898       rs77759517       rs77809773       rs77829738       rs77960510       rs77973985       rs78349441       rs78466507       rs78752563       rs78851453       rs79015088       rs79090983       rs79108571       rs79208864       rs79236068       rs79274916       rs79553004       rs79653743       rs79668020       rs79830917       rs79911888       rs80140889       rs80156711       rs80322271       rs111268236       rs111337904       rs111340517       rs111347638       rs111354493       rs111445234       rs111589776       rs111609913       rs111626535       rs111709988       rs111713150       rs111837606       rs111914711       rs111917811       rs112043070       rs112138943       rs112141347       rs112193538       rs112217746       rs112227654       rs112245766       rs112246897       rs112249948       rs112253929       rs112292564       rs112314539       rs112471552       rs112485021       rs112667401       rs112678307       rs112683344       rs112712922       rs112722425       rs112725535       rs112726527       rs112775894       rs112816965       rs112857905       rs112889111       rs112932786       rs112969281       rs113038632       rs113046942       rs113069892       rs113166335       rs113169707       rs113174461       rs113296100       rs113326364       rs113388671       rs113421613       rs113443417       rs113453591       rs113455510       rs113467202       rs113502916       rs113616004       rs113647147       rs113844756       rs113845673       rs113858328       rs113953325       rs114274721       rs114308448       rs114394142       rs114619616       rs114696330       rs114752779       rs114827964       rs114955754       rs115050730       rs115143295       rs115148746       rs115181600       rs115189638       rs115271191       rs115319222       rs115330145       rs115345489       rs115427927       rs115429931       rs115468850       rs115475905       rs115531173       rs115703831       rs115833446       rs115951899       rs116122864       rs116163286       rs116350692       rs116410091       rs116413227       rs116562348       rs116639344       rs116700304       rs116810791       rs116891185       rs116898509       rs117053591       rs121908134       rs121908135       rs137922487       rs137925103       rs137954015       rs137994103       rs138198721       rs138239293       rs138364901       rs138534425       rs138558584       rs138584954       rs138668658       rs138904953       rs138942435       rs138979381       rs138991735       rs139188385       rs139206180       rs139223383       rs139223525       rs139266211       rs139328529       rs139332523       rs139604386       rs139826091       rs139845610       rs139921759       rs140069505       rs140175027       rs140382925       rs140448014       rs140560090       rs140592848       rs140949581       rs141387813       rs141474574       rs141564834       rs141627992       rs141743548       rs141783157       rs141823057       rs141868246       rs142161153       rs142192433       rs142217885       rs142493812       rs142557911       rs142558141       rs142638391       rs142850918       rs142939900       rs143053025       rs143439475       rs143456789       rs143543872       rs143577178       rs143645714       rs143646374       rs143835636       rs143952172       rs144026978       rs144125552       rs144196298       rs144234258       rs144392050       rs144448933       rs144619618       rs144627974       rs144670831       rs144811352       rs144940887       rs145002662       rs145068350       rs145142287       rs145294217       rs145302595       rs145306517       rs145350712       rs145458891       rs145500049       rs145666801       rs145974670       rs146011295       rs146041420       rs146047720       rs146261521       rs146534261       rs146575430       rs146588006       rs146827363       rs146883001       rs146904852       rs146996868       rs147100772       rs147172610       rs147326755       rs147364106       rs147465499       rs147668963       rs147707189       rs148127745       rs148239516       rs148320895       rs148390614       rs148446250       rs148713855       rs148817452       rs148821280       rs148829036       rs148877431       rs148975469       rs149033367       rs149154644       rs149472740       rs149508868       rs149516970       rs149674839       rs149888702       rs149996190       rs150033799       rs150258579       rs150580178       rs150708975       rs150740274       rs150787823       rs150904943       rs150939089       rs151282764       rs180699923       rs180704124       rs180719071       rs180733306       rs180955761       rs180958572       rs180961851       rs181005289       rs181216385       rs181243250       rs181254774       rs181289549       rs181506456       rs181687362       rs181695550       rs181813556       rs181848419       rs182093018       rs182098965       rs182103020       rs182464112       rs182518338       rs182536354       rs182544254       rs182700746       rs182910266       rs182918948       rs182999861       rs183006131       rs183018369       rs183026518       rs183316077       rs183374352       rs183377899       rs183391534       rs183551944       rs183556309       rs183581437       rs183704633       rs183710881       rs183929979       rs183944722       rs184029394       rs184247230       rs184469259       rs184519590       rs184658193       rs184723049       rs184745624       rs184822451       rs185020279       rs185034541       rs185095656       rs185261111       rs185346366       rs185451588       rs185509784       rs185514666       rs185719097       rs185758669       rs185997281       rs186043132       rs186047032       rs186062746       rs186441384       rs186456371       rs186504413       rs186511235       rs186649618       rs186770747       rs186891729       rs186933135       rs186998703       rs187097840       rs187106571       rs187203753       rs187733920       rs187823305       rs188079860       rs188098255       rs188190975       rs188386249       rs188566340       rs188627007       rs188635035       rs188799856       rs188894254       rs188910206       rs188927448       rs189165710       rs189175287       rs189442618       rs189447492       rs189455979       rs189717024       rs189734409       rs190009620       rs190024123       rs190041182       rs190245071       rs190268797       rs190500506       rs190507288       rs190668494       rs190791864       rs190822194       rs191072366       rs191089841       rs191199991       rs191207930       rs191234203       rs191250643       rs191313844       rs191642412       rs191897134       rs191899706       rs192092484       rs192171294       rs192177622       rs192187401       rs192473554       rs192485106       rs192793592       rs193006803       rs193082295       rs193150965       rs193238415       rs199501127       rs199502924       rs199562318       rs199582087       rs199641142       rs199767941       rs199965036       rs200066740       rs200078159       rs200128812       rs200429314       rs200463063       rs200528482       rs200602012       rs200806495       rs200893214       rs201026784       rs201251427       rs201286955       rs201319052       rs201331310       rs201395770       rs201422991       rs201437771       rs201515898       rs201586165       rs201619468       rs201625425       rs201813199       rs201911254       rs201919218       rs201999263       rs202241124       rs367594266       rs367803965       rs367832657       rs367885382       rs367944375       rs368083302       rs368253130       rs368279968       rs368470649       rs368547529       rs368736126       rs368795540       rs368890910       rs369224412       rs369405672       rs369494429       rs369622120       rs369745516       rs369746115       rs370070381       rs370088938       rs370178224       rs370252153       rs370388560       rs370449202       rs370513696       rs370514263       rs370563226       rs370714821       rs370822322       rs370900395       rs371034506       rs371111782       rs371154952       rs371306949       rs371315234       rs371548369       rs371554869       rs371575911       rs371653062       rs371702207       rs371734244       rs371940671       rs372377904       rs372385959       rs372386484       rs372510181       rs372618735       rs372705054       rs372713837       rs372719536       rs372888541       rs373017099       rs373065444       rs373076037       rs373142037       rs373242735       rs373356249       rs373419035       rs373480894       rs373536201       rs373580406       rs373598296       rs373648685       rs373650430       rs373746885       rs373864906       rs373908296       rs373919355       rs373952263       rs373980812       rs374001346       rs374134792       rs374302816       rs374452587       rs374634536       rs374640448       rs374763573       rs375152529       rs375162948       rs375198732       rs375388717       rs375501907       rs375837137       rs375866681       rs375888967       rs376217212       rs376401370       rs376431619       rs376529678       rs376659285       rs376700787       rs376804299       rs376807950       rs376889032       rs377004123       rs377130734       rs377277363       rs377416423       rs377497281       rs377612111       rs397833067       rs397840482       rs527293789       rs527311771       rs527353269       rs527430108       rs527484517       rs527550581       rs527689594       rs527765147       rs527822132       rs527832358       rs527894815       rs527901678       rs527946174       rs527968078       rs528050724       rs528118113       rs528427345       rs528432902       rs528465977       rs528508211       rs528510785       rs528574694       rs528640998       rs528661221       rs528853139       rs528853201       rs528993689       rs529073294       rs529172124       rs529237400       rs529370641       rs529406537       rs529417166       rs529450059       rs529539325       rs529540838       rs529708143       rs529749452       rs530006901       rs530076430       rs530120378       rs530319349       rs530360712       rs530389991       rs530492619       rs530495163       rs530556854       rs530627348       rs530835984       rs530882053       rs530948352       rs531141238       rs531204482       rs531344845       rs531351643       rs531382811       rs531539479       rs531663738       rs531728530       rs531800122       rs531939924       rs531955621       rs532058655       rs532084035       rs532127746       rs532134370       rs532151559       rs532278783       rs532427678       rs532599162       rs532610693       rs532736462       rs532877967       rs532912070       rs532961649       rs532974344       rs533115792       rs533147451       rs533174976       rs533227917       rs533231155       rs533265111       rs533301331       rs533436917       rs533506950       rs533560269       rs533562196       rs533710746       rs533780340       rs533842120       rs533967160       rs534012940       rs534206493       rs534279933       rs534592524       rs534714656       rs534799364       rs534932975       rs534942431       rs535034694       rs535066831       rs535112345       rs535183513       rs535284437       rs535284718       rs535316379       rs535531484       rs535632651       rs535680147       rs535833164       rs535971118       rs536050468       rs536142818       rs536195601       rs536196982       rs536480760       rs536497264       rs536609402       rs536610066       rs536613476       rs536638854       rs536677291       rs536741232       rs536832110       rs536841188       rs536912280       rs536988491       rs537152489       rs537249505       rs537311793       rs537366481       rs537469793       rs537486587       rs537535683       rs537647160       rs537670142       rs537707766       rs537879246       rs537923193       rs537954997       rs537986514       rs538003116       rs538053438       rs538054111       rs538061844       rs538065121       rs538113260       rs538135858       rs538195642       rs538288613       rs538292595       rs538380443       rs538396390       rs538466035       rs538512801       rs538534915       rs538611749       rs538672785       rs538696129       rs538758044       rs538841052       rs538927081       rs539014520       rs539080128       rs539105712       rs539509224       rs539529142       rs539652011       rs539671965       rs539705011       rs539736669       rs540214598       rs540215863       rs540276542       rs540338884       rs540367233       rs540385483       rs540478913       rs540527565       rs540542310       rs540726067       rs540730709       rs540863001       rs541021505       rs541041488       rs541326995       rs541384181       rs541447308       rs541515000       rs541553280       rs541598362       rs541602780       rs541633735       rs541769606       rs542258493       rs542362768       rs542457031       rs542464887       rs542528687       rs542569751       rs542631353       rs542681300       rs542824741       rs542846147       rs542959234       rs543092506       rs543176736       rs543191184       rs543239890       rs543364464       rs543369787       rs543589769       rs543621943       rs543768706       rs543880285       rs543986685       rs544054957       rs544133024       rs544246595       rs544302593       rs544308204       rs544328815       rs544375223       rs544433974       rs544444783       rs544445075       rs544486938       rs544507654       rs544623561       rs544788189       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rs774415122       rs774485408       rs774597776       rs774609194       rs774610418       rs774821820       rs774905234       rs774987977       rs775083503       rs775155350       rs775353137       rs775364764       rs775364951       rs775575981       rs775645907       rs775722436       rs775872563       rs775960755       rs775996656       rs776117555       rs776128637       rs776191127       rs776244582       rs776316859       rs776386029       rs776413333       rs776477745       rs776588491       rs776626188       rs776716132       rs776899743       rs777076998       rs777091021       rs777167424       rs777181136       rs777273227       rs777276108       rs777334951       rs777475384       rs777574983       rs777600584       rs777620681       rs777745590       rs777836708       rs777952189       rs778041163       rs778070025       rs778158200       rs778292871       rs778303174       rs778336312       rs778414916       rs778471650       rs778528021       rs778658277       rs778659174       rs778712667       rs778800565       rs778997165       rs779084814       rs779100661       rs779137314       rs779140042       rs779481347       rs779497352       rs779617103       rs779665303       rs779690732       rs779833543       rs779875511       rs780047120       rs780128144       rs780131615       rs780230902       rs780233126       rs780247972       rs780455562       rs780459135       rs780516731       rs780609169       rs780639663       rs780647660       rs780655335       rs780701126       rs780899519       rs781010295       rs781030354       rs781349789       rs781377643       rs781378851       rs781386845       rs781466806       rs781518450       rs781623541       rs781641537       rs781690883       rs781763358      

ESPN基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
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
CGTGTGGTTGGACAAAGAC
59
CACTACCAGGATCTGGCAG
59
GGAAGAAGCTGGAAGAAGAG
58
CTGACTGTTCCTTCTCCCG
59
GTCTAGGAAGTCAGCTGCT
58
AAAGACTTGGTGCCTCCTC
59
TCTAGGAAGTCAGCTGCTG
58
AAAGACTTGGTGCCTCCTC
59
GAACAGTCAGAGAAGCTGC
58
ATCGCGGTATTAAATCTGTCG
58
GTGTGGTTGGACAAAGACG
59
TTCACTACCAGGATCTGGC
58
GGAACCATGTTCCTAACGG
58
TTGAAAGACTTGGTGCTGC
59
ATTAAAGCGCTCTCATCTGG
58
CGGTATTAAATCCCGAGAAGG
58
GAACCATGTTCCTAACGGC
58
TTGAAAGACTTGGTGCTGC
59
AGAAGGAACAGTCAGAGAAGC
59
GGTATTAAATCTGTCGCTGCC
59
      尚未收录相关数据

ESPN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

ESPN基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0051015
A0A0A0MSQ4(UniProtKB)
IEA
GO:0051017
A0A0A0MSQ4(UniProtKB)
IEA
GO:0051015
A0A0J9YWQ8(UniProtKB)
IEA
GO:0051017
A0A0J9YWQ8(UniProtKB)
IEA
GO:0051015
A0A0J9YY76(UniProtKB)
IEA
GO:0051017
A0A0J9YY76(UniProtKB)
IEA
GO:0005737
B1AK53(UniProtKB)
IEA
GO:0005902
B1AK53(UniProtKB)
IEA
GO:0005903
B1AK53(UniProtKB)
ISS
GO:0007605
B1AK53(UniProtKB)
IEA
GO:0007626
B1AK53(UniProtKB)
IEA
GO:0017124
B1AK53(UniProtKB)
ISS
GO:0030046
B1AK53(UniProtKB)
IEA
GO:0031941
B1AK53(UniProtKB)
ISS
GO:0032426
B1AK53(UniProtKB)
IEA
GO:0051015
B1AK53(UniProtKB)
ISS
GO:0051491
B1AK53(UniProtKB)
IEA
GO:0051494
B1AK53(UniProtKB)
IEA
GO:0051015
H0Y7L4(UniProtKB)
IEA
GO:0051017
H0Y7L4(UniProtKB)
IEA
GO:0051015
Q5JYL1(UniProtKB)
IEA
GO:0051017
Q5JYL1(UniProtKB)
IEA
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

可能调控ESPN基因的相关microRNA:     


通路基因列表
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 0.36 1 0 CLINVAR_CTD_human_UNIPROT
Deafness 0.12 2 0 CTD_human
Vestibular Diseases 0.12 1 0 CTD_human
Deafness, Autosomal Recessive 36, Without Vestibular Involvement 0.12 0 0 CLINVAR
hearing impairment 0.0054487 2 0 LHGDN
melanoma 0.000271442 1 0 BeFree
Melanocytic nevus 0.000271442 1 0 BeFree
Retinal Degeneration 0.000271442 1 0 BeFree
Hearing Loss, Mixed Conductive-Sensorineural 0.000271442 1 0 BeFree
Usher Syndrome 0.000271442 1 0 BeFree
Usher Syndrome, Type II 0.000271442 1 0 BeFree
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 0.000271442 1 0 BeFree
Nonsyndromic Deafness 0.000271442 1 0 BeFree
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