TMEM43(transmembrane protein 43) 转至新版数据库

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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3p25.1
基因染色体位置图

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

[中文简述(自动翻译):]  该基因属于TMEM43家庭。在这个基因的缺陷是家族性致心律失常性右心室发育不良型5(ARVD5),也被称为致心律失常性右室心肌病型5(ARVC5)的原因。致心律失常性右心室发育不良是一种遗传疾病,常累及两心室,其特征是室性心动过速,心脏衰竭,心源性猝死,与纤维脂肪替换心肌。该基因包含PPAR伽马(一种脂肪形成转录因子),这可以解释在纤维脂肪替代心肌,在常常表现为一个特征性的病理发现响应元素。 [由RefSeq的,2008年10月提供]

TMEM43基因的碱基序列:[NCBI]
TMEM43基因的碱基突变:           显示全部snp
rs2731307       rs2733577       rs2733578       rs2733579       rs2733580       rs2733581       rs2733582       rs2733583       rs2733584       rs3733169       rs4685072       rs4685073       rs17038940       rs35653652       rs57196972       rs71306079       rs73142616       rs79302917       rs111954359       rs111995799       rs112122359       rs112461777       rs113658824       rs114645233       rs114784892       rs117293264       rs138365853       rs139845296       rs139915077       rs140252037       rs140833608       rs142202629       rs142213112       rs142312440       rs143202272       rs143324959       rs143476164      
rs145271216       rs145341873       rs147535832       rs147545399       rs148750361       rs148854406       rs150672567       rs151198621       rs180820198       rs183899611       rs184230903       rs186102895       rs188386351       rs188608093       rs188988244       rs190277719       rs192235215       rs192495504       rs202159933       rs368669606       rs372124334       rs372415976       rs374353034       rs527303449       rs528730915       rs529519048       rs530189668       rs532842102       rs533090377       rs534367906       rs534580036       rs534796855       rs534828690       rs535621654       rs535930089       rs536955255       rs537513930       rs537549799       rs539627763       rs540014772       rs540298807       rs540373459       rs540661166       rs542109853       rs542801189       rs543050551       rs544943797       rs545306807       rs545579396       rs546014300       rs547402185       rs548199002       rs548291447       rs549283768       rs549923124       rs551021639       rs552069664       rs555384913       rs555579055       rs555683287       rs556344908       rs556581213       rs556592498       rs557420123       rs557505982       rs557957597       rs558020526       rs559660016       rs561271081       rs561638761       rs561676751       rs562711888       rs563508747       rs564024082       rs564119714       rs565100387       rs565549456       rs565890040       rs566022212       rs567758650       rs569918467       rs570006381       rs571615896       rs572130275       rs572207514       rs572878729       rs573397655       rs576357960       rs577237727       rs577546540       rs745983194       rs747491396       rs747502348       rs748961327       rs750657252       rs751022950       rs752676118       rs754747623       rs757083718       rs757516863       rs759026682       rs760598925       rs763829810       rs765619239       rs767001935       rs767482394       rs770141102       rs770619366       rs772270208       rs773961732       rs774049247       rs777012368       rs777571227       rs779252823       rs780112747       rs780480053       rs8516       rs9970       rs10468       rs11943       rs13069       rs878492       rs1043943       rs1043953       rs2340917       rs2607764       rs2607765       rs2607766       rs2607767       rs2607769       rs2607770       rs2731308       rs2731309       rs2731310       rs2731320       rs2731328       rs2731329       rs2733531       rs2733585       rs2733587       rs3796308       rs3796310       rs3796311       rs3814413       rs3814414       rs3964375       rs4685074       rs4685075       rs4685076       rs6766740       rs6798807       rs7616094       rs7624198       rs7632937       rs7638190       rs9822462       rs9842062       rs9874135       rs11711816       rs11920099       rs11924644       rs17038942       rs17856369       rs34099410       rs35028636       rs35100587       rs35924492       rs36083134       rs41284009       rs56779598       rs56808750       rs58199833       rs58476065       rs59432343       rs71306080       rs71699966       rs73022888       rs73022896       rs73142619       rs73142621       rs73142624       rs73817813       rs73817814       rs74553717       rs74835452       rs75263282       rs75332262       rs75536858       rs75677144       rs75811344       rs75952352       rs76785718       rs77524308       rs78384995       rs78855872       rs78942892       rs79398164       rs79434002       rs79741000       rs79958555       rs80058578       rs80345392       rs111341618       rs111348849       rs111441648       rs112210924       rs112525488       rs113354931       rs113449357       rs113745859       rs114026215       rs114149034       rs114738961       rs114973407       rs115657928       rs115887735       rs116264282       rs116578606       rs116757981       rs116911972       rs117144604       rs117511391       rs117759349       rs118082485       rs118165184       rs137975239       rs138182276       rs138452318       rs138527599       rs138625931       rs138764471       rs138904555       rs138934872       rs139078900       rs139103658       rs139211731       rs139346044       rs139590716       rs139595197       rs139672354       rs139781226       rs139842014       rs139896807       rs140253041       rs140340693       rs140347235       rs140380494       rs140614288       rs140758065       rs140780192       rs141247533       rs141251141       rs141389147       rs141408934       rs141474582       rs141675061       rs142083132       rs142500068       rs142596143       rs142760560       rs142861354       rs143124744       rs143329385       rs143535006       rs143620402       rs143665934       rs143735210       rs143958148       rs144065756       rs144087911       rs144109781       rs144152046       rs144188370       rs144260204       rs144334386       rs144356815       rs144556706       rs144663367       rs144732222       rs144811578       rs145011666       rs145024252       rs145077037       rs145094507       rs145510310       rs145619906       rs145829904       rs145856908       rs146077457       rs146632885       rs146863396       rs147094114       rs147218873       rs147228535       rs147319971       rs147336367       rs147565477       rs147710692       rs147796005       rs148171303       rs148290121       rs148412226       rs148432515       rs148444950       rs149041766       rs149200204       rs149357575       rs149799951       rs149883381       rs149948678       rs150282151       rs150334659       rs150425166       rs150478052       rs150619904       rs150805890       rs150859949       rs151009158       rs151010429       rs151145310       rs180698432       rs180722159       rs180983762       rs181425027       rs181840641       rs182350343       rs182351748       rs182464375       rs182607735       rs182728261       rs183204324       rs183322650       rs183679054       rs183834903       rs183980178       rs183997879       rs184169899       rs184223182       rs184367774       rs184913026       rs185025731       rs185167296       rs185446476       rs185589175       rs185611706       rs185974653       rs186173579       rs186322123       rs186488436       rs186530498       rs186543144       rs186840356       rs186975970       rs187024806       rs187262922       rs187346587       rs187363244       rs187725428       rs187865624       rs187944875       rs188070570       rs188356526       rs188725830       rs188883174       rs188887911       rs188888379       rs189274650       rs189390169       rs189395550       rs189624671       rs189629533       rs189766472       rs190101974       rs190167722       rs190262194       rs190531956       rs190560943       rs190573445       rs190761121       rs190923120       rs191061777       rs191398502       rs191450930       rs191799531       rs191850472       rs192003382       rs192078574       rs192216287       rs192347944       rs192448200       rs192707412       rs192958719       rs192972628       rs193089670       rs193922706       rs193922707       rs199524615       rs199526104       rs199531521       rs199579142       rs199874478       rs199943048       rs200256104       rs200303529       rs200321139       rs200533996       rs200618113       rs200652985       rs200679654       rs200719923       rs201085402       rs201094625       rs201138253       rs201217046       rs201453637       rs201460674       rs201543634       rs201771608       rs201869731       rs201916031       rs202103307       rs202207425       rs202223358       rs367703596       rs367910936       rs368111230       rs368256924       rs368555747       rs368603914       rs368761778       rs369142200       rs369319499       rs369461997       rs369588299       rs369779779       rs369803289       rs369827356       rs369878538       rs369973984       rs370422391       rs370443570       rs370539390       rs370566174       rs370648194       rs370705619       rs370782259       rs370839609       rs370969669       rs370973153       rs371019231       rs371055642       rs371182694       rs371236613       rs371279985       rs371564726       rs371603418       rs371706980       rs371728126       rs371797765       rs371866082       rs372265900       rs372312945       rs372434224       rs373023080       rs373229565       rs373515736       rs373590238       rs373644386       rs373729601       rs373778284       rs373839281       rs373859474       rs373911134       rs373956484       rs374202326       rs374222050       rs374498581       rs374549285       rs374964051       rs374971563       rs375273310       rs375379837       rs375481688       rs375915415       rs376010102       rs376056223       rs376098518       rs376175798       rs376182664       rs376194839       rs376514478       rs376589026       rs376702920       rs377104916       rs377207870       rs377252553       rs377518739       rs377585035       rs397514044       rs397517384       rs527421109       rs527471162       rs527684241       rs527942696       rs527982750       rs528336781       rs528475057       rs528602745       rs529120571       rs529283225       rs529428658       rs529505912       rs529568107       rs529692898       rs529780665       rs529838150       rs530146220       rs530183718       rs530307689       rs530424533       rs530558302       rs530601007       rs530659271       rs530803753       rs530918846       rs531408808       rs531843138       rs531927109       rs532124516       rs532124807       rs532211756       rs532291263       rs532590052       rs532743478       rs532872056       rs533149317       rs533189312       rs533275736       rs533328960       rs533360255       rs533455369       rs533934943       rs533964260       rs534094305       rs534229699       rs534307747       rs534430365       rs534434288       rs534470055       rs535122776       rs535388670       rs535423065       rs535479478       rs535492219       rs535741733       rs535772778       rs536222243       rs536469258       rs536644414       rs536832197       rs536962928       rs537043767       rs537082186       rs537549866       rs537694549       rs537803369       rs537808291       rs538251757       rs538394864       rs538468268       rs538615521       rs538694110       rs539231825       rs539342873       rs539374471       rs539380047       rs539444227       rs539481072       rs539484717       rs539638502       rs539753097       rs539945827       rs540188832       rs540270759       rs540449031       rs540462307       rs540550037       rs540613611       rs541090316       rs541310900       rs541449808       rs541491208       rs541565919       rs541835098       rs541922932       rs542365086       rs542877775       rs542958968       rs543703080       rs543764313       rs543770397       rs544037411       rs544067231       rs544511580       rs544554435       rs544640333       rs544836968       rs544854804       rs545159709       rs545237994       rs545524732       rs545864327       rs545865751       rs546360883       rs546620952       rs546703476       rs547282330       rs547635349       rs547693924       rs547994189       rs548231420       rs548370691       rs548417345       rs548843409       rs549063159       rs549474239       rs549752038       rs549809535       rs549901886       rs549915726       rs549932205       rs549990365       rs549994433       rs550010527       rs550385545       rs550388809       rs550473346       rs550614869       rs550702296       rs551109599       rs551182461       rs551211598       rs551362540       rs551515499       rs551843262       rs551886822       rs552164666       rs552252303       rs552466126       rs552776910       rs553330414       rs553502856       rs553614459       rs553660715       rs553701378       rs553703056       rs553720444       rs553740010       rs553757132       rs553880071       rs554016015       rs554107307       rs554631162       rs554670701       rs554917224       rs555034992       rs555077846       rs555235237       rs555245048       rs555281894       rs555557965       rs555619865       rs555773632       rs555855286       rs555913548       rs556141845       rs556436355       rs556720419       rs557273977       rs557338556       rs557426982       rs557589455       rs557868412       rs558162956       rs558722605       rs558878089       rs558915075       rs558983260       rs559019741       rs559142330       rs559180941       rs559204680       rs559269403       rs559271953       rs559288100       rs559809675       rs559832533       rs560185655       rs560249672       rs560297191       rs560432320       rs560634989       rs560985376       rs561021311       rs561214542       rs561269973       rs561424640       rs561460887       rs561600172       rs561662622       rs561883271       rs561969405       rs562006597       rs562398260       rs562436722       rs562469790       rs562473291       rs562503872       rs562618913       rs562700595       rs563110363       rs563202644       rs563394942       rs563826219       rs563854597       rs563997718       rs564344055       rs564655691       rs564793706       rs564825681       rs564913032       rs565139402       rs565214715       rs565244185       rs565371150       rs565407824       rs565761168       rs565936422       rs566090721       rs566222144       rs566617291       rs567008375       rs567086579       rs567254857       rs567845799       rs568179990       rs568225509       rs568243248       rs568580822       rs568657650       rs568967201       rs569001992       rs569401838       rs569490084       rs569650265       rs569662640       rs569717031       rs569732023       rs569853307       rs570006097       rs570043050       rs570084728       rs570098468       rs570332533       rs570525058       rs570693064       rs570713256       rs570799464       rs570836197       rs571238605       rs571397773       rs571759152       rs571794244       rs571800064       rs571850819       rs572153199       rs572284092       rs572290412       rs572474708       rs572548025       rs573135235       rs573343290       rs573490765       rs573498162       rs573528175       rs573621640       rs574077213       rs574138859       rs574163806       rs574358238       rs574532963       rs574562665       rs574601124       rs575037655       rs575038330       rs575421687       rs575527575       rs575666801       rs575962784       rs576024821       rs576062213       rs576324845       rs576449068       rs576730863       rs576748527       rs577129583       rs577274886       rs577359875       rs577490995       rs577703803       rs577792881       rs578094273       rs727504984       rs727505249       rs730880226       rs730880227       rs745349532       rs745443053       rs745468036       rs745554414       rs745658635       rs745694031       rs746009594       rs746029662       rs746029667       rs746116143       rs746126153       rs746183974       rs746332499       rs746380443       rs746579064       rs746592116       rs746612885       rs746639451       rs746672224       rs746865129       rs747128659       rs747164382       rs747199582       rs747252111       rs747310600       rs747344238       rs747466760       rs747754860       rs747960452       rs748042640       rs748116470       rs748128413       rs748146417       rs748242385       rs748295963       rs748343919       rs748618994       rs748642684       rs748833130       rs748881874       rs748969808       rs749049529       rs749093805       rs749140979       rs749423208       rs749592639       rs749727938       rs749737076       rs749837282       rs749841383       rs749875987       rs749981656       rs750107818       rs750133976       rs750280406       rs750677316       rs750801458       rs750860982       rs751086845       rs751176699       rs751281068       rs751394053       rs751419150       rs751675313       rs751709506       rs751726505       rs751945696       rs751999157       rs752269639       rs752384686       rs752403292       rs752588115       rs752605878       rs752727608       rs752938561       rs752989481       rs753209951       rs753528238       rs753704737       rs753739692       rs753740877       rs754103544       rs754105679       rs754195892       rs754209349       rs754236206       rs754507435       rs754536393       rs754716462       rs754742923       rs754797146       rs754983005       rs755018311       rs755042745       rs755132712       rs755270250       rs755350435       rs755682525       rs755685574       rs755699200       rs756046294       rs756093189       rs756115936       rs756256793       rs756274773       rs756294633       rs756312241       rs756472571       rs756485188       rs756575126       rs756597745       rs756764750       rs756898896       rs757013233       rs757038162       rs757095307       rs757142537       rs757266867       rs757311493       rs757412272       rs757430674       rs757554576       rs757632483       rs757651177       rs757716377       rs757724015       rs757742631       rs757820643       rs757973802       rs757974998       rs758007704       rs758030788       rs758037497       rs758427713       rs758651209       rs758697367       rs758804259       rs758872772       rs758981622       rs758982886       rs759379300       rs759390824       rs759612558       rs759676847       rs759720857       rs759993739       rs760089152       rs760105643       rs760323011       rs760555243       rs760628106       rs760725387       rs760768474       rs760790283       rs760798770       rs760936714       rs761083427       rs761287242       rs761301850       rs761482274       rs761672806       rs761905629       rs761950095       rs761968722       rs762090341       rs762333890       rs762416376       rs762632835       rs762737458       rs763026916       rs763100204       rs763137564       rs763469415       rs763598640       rs763697982       rs763995800       rs764099626       rs764377071       rs764481012       rs764546967       rs764556916       rs764648241       rs764671990       rs764733979       rs764861989       rs764960823       rs765063600       rs765139877       rs765185040       rs765470053       rs765528284       rs765641410       rs765654587       rs765703685       rs765762863       rs765773804       rs765816901       rs766112098       rs766201272       rs766205020       rs766312977       rs766390906       rs766632899       rs766665492       rs766792876       rs766861749       rs766940580       rs767156841       rs767473670       rs767516734       rs767538172       rs767619018       rs767824014       rs767916602       rs768035841       rs768035993       rs768069110       rs768093672       rs768243187       rs768357650       rs768508021       rs768516856       rs768642990       rs768718054       rs768752495       rs768913841       rs769015394       rs769486170       rs769654404       rs769722980       rs769740836       rs769793469       rs769902062       rs769969149       rs770473524       rs770609078       rs770619613       rs770753162       rs770765460       rs770828455       rs770871762       rs771028028       rs771191626       rs771454768       rs771490323       rs771618003       rs771621691       rs772262930       rs772317634       rs772334038       rs772350870       rs772750279       rs772842801       rs772856458       rs772960578       rs773092887       rs773224617       rs773252383       rs773605236       rs773749788       rs773764939       rs773841507       rs773871092       rs774064981       rs774170241       rs774276092       rs774326343       rs774356401       rs774557631       rs774735646       rs774860013       rs774970089       rs775001840       rs775113815       rs775504259       rs775552880       rs775787872       rs775871290       rs775872602       rs775986881       rs776013037       rs776056742       rs776147178       rs776149007       rs776240748       rs776568846       rs776611413       rs776622211       rs776720890       rs777082653       rs777194176       rs777198101       rs777277570       rs777408022       rs777636287       rs777743046       rs777915392       rs777949977       rs778047791       rs778127887       rs778246199       rs778405877       rs778602479       rs778628088       rs778787621       rs778890727       rs779090096       rs779262580       rs779379048       rs779432280       rs779537693       rs779625905       rs779781472       rs780129544       rs780142044       rs780389237       rs780392028       rs780517641       rs780800552       rs780836669       rs780991894       rs780997037       rs781115796       rs781293688       rs781382808       rs781487997       rs781640632       rs781768250      

TMEM43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
GGTAGAAACTGAGGAGTCCAG
59
CATTCAGTGTTGTAGGAATACCTC
59
TGCTCTGAGTCCAAGAAGC
60
GGTACTGGTACTGGAATACGT
59
GGTAGAAACTGAGGAGTCCA
58
CATTCAGTGTTGTAGGAATACCTC
59
GCTAGTCCCATTCTCCACC
60
TGAAACACCTCCTCTGCTG
60
TCTGAGTCCAAGAAGCTGG
59
GGTACTGGTACTGGAATACGT
59
GCTCTGAGTCCAAGAAGCT
59
GGTACTGGTACTGGAATACGT
59
ATTCTCCACCAAGTCTGGG
59
AGTTCTCTATGAAACACCTCCTC
60
CTAGTCCCATTCTCCACCA
58
ATGAAACACCTCCTCTGCT
59
GGTAGAAACTGAGGAGTCCA
58
CCATTCAGTGTTGTAGGAATACC
59
      尚未收录相关数据

TMEM43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

TMEM43基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0005515
Q9BTV4(UniProtKB)
IPI
GO:0005515
Q9BTV4(UniProtKB)
IPI
GO:0005639
Q9BTV4(UniProtKB)
IEA
GO:0005788
Q9BTV4(UniProtKB)
IEA
GO:0005794
Q9BTV4(UniProtKB)
IDA
GO:0043621
Q9BTV4(UniProtKB)
IEA
GO:0071763
Q9BTV4(UniProtKB)
IDA
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TMEM43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
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 0.36 1 2 CLINVAR_CTD_human_UNIPROT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 0.24 1 2 CLINVAR_UNIPROT
Arrhythmogenic Right Ventricular Dysplasia 0.127262917 9 2 BeFree_CLINVAR_GAD_LHGDN
Cardiomyopathies 0.120271442 1 1 BeFree_CLINVAR
Sudden Cardiac Death 0.12 1 0 CTD_human
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 0.12 0 0 ORPHANET
Heart failure 0.002367032 1 0 GAD
Tobacco Use Disorder 0.002367032 1 0 GAD
Cardiomyopathy, Dilated 0.000271442 1 1 BeFree
Myopathy 0.000271442 1 0 BeFree
Muscular Dystrophy, Emery-Dreifuss 0.000271442 1 0 BeFree
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