ALAS2(5'-aminolevulinate synthase 2)

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
Xp11.21

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  这个基因的产物指定一个特定的红系位于线粒体酶。所编码的蛋白质催化血红素生物合成途径的第一个步骤。缺陷在该基因引起X连锁吡哆响应铁粒幼细胞贫血。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年7月提供]

ALAS2基因的碱基序列:[NCBI]
ALAS2基因的碱基突变:           显示全部snp
rs781693080       rs781744821       rs781624567       rs781584575       rs781586751       rs781543303       rs781523559       rs781355205       rs781354801       rs781344972       rs781242085       rs781327767       rs781240106       rs781239172       rs780949974       rs781232902       rs780858823       rs780757828       rs780775232       rs780642606       rs780471920       rs780568189       rs780595246       rs780411719       rs780294973       rs780287545       rs780111070       rs780108052       rs780085945       rs779917061       rs779800962       rs779721587       rs779709180       rs779614290       rs779626885       rs779599691       rs779576528      
rs779443149       rs779258259       rs779253416       rs779247451       rs779134656       rs779053905       rs778970215       rs778942571       rs778964211       rs778876478       rs778770488       rs778683516       rs778495501       rs778388971       rs778475231       rs778305565       rs778290329       rs778210657       rs778200451       rs778191440       rs778101102       rs778010833       rs777924027       rs777922310       rs777756531       rs777666420       rs777532174       rs777562024       rs777444287       rs777358271       rs777425234       rs777257757       rs777274352       rs777346409       rs777143293       rs777156778       rs777068972       rs777048418       rs776889478       rs776696833       rs776595485       rs776509544       rs776497833       rs776507055       rs776415280       rs776209157       rs776410282       rs776031925       rs776008173       rs775943770       rs775941717       rs775867791       rs775350002       rs775569657       rs775151643       rs775239781       rs775077902       rs775075353       rs774897255       rs774873476       rs774771402       rs774592895       rs774506921       rs774575169       rs774238944       rs774120911       rs774073760       rs774118883       rs773875622       rs773826377       rs773848519       rs773737442       rs773629116       rs773675654       rs773585688       rs773549143       rs773526759       rs773474417       rs773436997       rs773462458       rs773375858       rs773075387       rs773093306       rs772985554       rs772739950       rs772652123       rs772567693       rs772598602       rs772506707       rs772482624       rs772441129       rs772107960       rs772113539       rs772015384       rs772004196       rs771986060       rs771979306       rs771871450       rs771929476       rs771785963       rs771703628       rs771660107       rs771473884       rs771465915       rs771384232       rs771031238       rs771307759       rs771018955       rs770993636       rs770886919       rs770847191       rs770798923       rs770741481       rs770692591       rs770352790       rs770548813       rs770279330       rs770233381       rs770225344       rs770185362       rs770160847       rs770133411       rs769983881       rs769904915       rs769794398       rs769813044       rs769705712       rs769553400       rs769516723       rs769466964       rs769162344       rs769273502       rs769136273       rs769096140       rs769039087       rs768964326       rs768988619       rs768947093       rs768779437       rs768696518       rs768677538       rs768351347       rs768601358       rs768278796       rs768178012       rs768270160       rs768129795       rs767796284       rs768025993       rs767780328       rs767779051       rs767768240       rs767613760       rs767576296       rs767525687       rs767489673       rs767435998       rs767030154       rs766803410       rs766949826       rs766748733       rs766715711       rs766625893       rs766649556       rs766555892       rs766286590       rs766086903       rs766201845       rs766073034       rs765908327       rs765892153       rs765870376       rs765801385       rs765788526       rs765736059       rs765603040       rs765715509       rs765511300       rs765396028       rs765421354       rs765302638       rs765390697       rs765234508       rs765071474       rs765038186       rs764738652       rs764796772       rs764705667       rs764737308       rs764652609       rs764463609       rs764335651       rs764261517       rs764251304       rs764166510       rs763862539       rs764143087       rs763836767       rs763781340       rs763661998       rs763424598       rs763592141       rs763370693       rs763274216       rs763266087       rs763076832       rs763159843       rs763068146       rs762988776       rs762698922       rs762955728       rs762617651       rs762608248       rs762512193       rs762329293       rs762292927       rs762238900       rs762226950       rs762029024       rs762109023       rs762017572       rs761956762       rs761527246       rs761546961       rs761517249       rs761477322       rs761369057       rs761198226       rs761178382       rs761054702       rs761159068       rs760900782       rs760790600       rs760704911       rs760600379       rs760670643       rs760438491       rs760268035       rs760378353       rs760248608       rs760166684       rs760143749       rs759942605       rs760052142       rs759575947       rs759582862       rs759463857       rs759378628       rs759242245       rs759169409       rs759079427       rs759121552       rs758927891       rs758738367       rs758659582       rs758667695       rs758630137       rs758646032       rs758580461       rs758578099       rs758326521       rs758537326       rs758232675       rs758290167       rs757881943       rs757804094       rs757850228       rs757793940       rs757756210       rs757784147       rs757718740       rs757651999       rs757533942       rs757580608       rs757389835       rs757369412       rs757168838       rs757109686       rs756953043       rs756815771       rs756907473       rs756790340       rs756708369       rs756664418       rs756526324       rs756620213       rs756030126       rs756279563       rs756402442       rs755899312       rs755781232       rs755691518       rs755754037       rs755405663       rs755279478       rs755107298       rs754981195       rs754983298       rs754898384       rs754772558       rs754879867       rs754772450       rs754538174       rs754465437       rs754502261       rs754383693       rs754281252       rs754383602       rs754249772       rs754080842       rs753891357       rs754034857       rs753671712       rs753464057       rs753553547       rs753380176       rs753156183       rs753225278       rs753135672       rs753050866       rs752853849       rs752899399       rs752764063       rs752705138       rs752651302       rs752539397       rs752426872       rs752474865       rs752334915       rs752323069       rs751995876       rs751886702       rs751946135       rs751844260       rs751822491       rs751778726       rs751758241       rs751758140       rs751668155       rs751691461       rs751603472       rs751494525       rs751140090       rs751342383       rs751047734       rs751006370       rs751004715       rs750969990       rs750956830       rs750883141       rs750716969       rs750754996       rs750594209       rs750452355       rs750558477       rs749970870       rs750360412       rs749969416       rs749834953       rs749920563       rs749787300       rs749702241       rs749419190       rs749367497       rs749330766       rs749328676       rs749232371       rs749172605       rs749148122       rs749150061       rs749044275       rs749037026       rs748962941       rs748918689       rs748930925       rs748890384       rs748740832       rs748664546       rs748685024       rs748553527       rs748489840       rs748544392       rs748465800       rs748456510       rs748347802       rs748354685       rs748138140       rs748092687       rs748032039       rs748062330       rs748014716       rs747900196       rs747697889       rs747617370       rs747615679       rs747543670       rs747033264       rs747328027       rs747029635       rs747005981       rs746749596       rs746919909       rs746738019       rs746627894       rs746653807       rs746556523       rs746475551       rs746375659       rs746373848       rs746092559       rs746181754       rs746071814       rs746002853       rs745892217       rs745973449       rs745883052       rs745784267       rs745516895       rs745507207       rs745423902       rs745416501       rs745337308       rs745308515       rs577210546       rs575948058       rs575321218       rs574904825       rs569361038       rs567407337       rs562612204       rs560099673       rs558943156       rs555552539       rs551076838       rs538283544       rs377444424       rs527253242       rs377098886       rs377127748       rs376227838       rs376961603       rs376054568       rs376070748       rs375181450       rs375475158       rs374704188       rs375021336       rs374346410       rs374467912       rs373208233       rs374128234       rs372974985       rs372675935       rs372829909       rs372280573       rs372419410       rs372234075       rs371511318       rs371716491       rs372076630       rs369770398       rs371131963       rs369750538       rs369089714       rs369704076       rs368764287       rs368251919       rs368071543       rs367690019       rs367874738       rs367673650       rs202150943       rs202086122       rs202055220       rs201875716       rs201836599       rs201799139       rs201740830       rs201506750       rs201086991       rs201062903       rs200994350       rs200978700       rs200685588       rs200440494       rs200307584       rs199834613       rs199826743       rs199827097       rs199599529       rs199765340       rs193222459       rs193142059       rs193066089       rs192859187       rs192538453       rs192393267       rs192382218       rs192236735       rs192096070       rs192085624       rs192045525       rs191931572       rs191904141       rs191678738       rs191528906       rs191356292       rs191333533       rs191250849       rs191205223       rs190863891       rs190840344       rs190291914       rs190141203       rs189947718       rs189805921       rs189657739       rs189521035       rs189437363       rs189018175       rs188919268       rs188803768       rs188522053       rs188411015       rs188389823       rs188389696       rs188367441       rs188167512       rs187969175       rs187891007       rs187733390       rs187531575       rs187293636       rs186861382       rs186802334       rs186670053       rs186668437       rs186549363       rs186359212       rs186030106       rs185989405       rs185980009       rs185504937       rs185466619       rs185464170       rs185357082       rs184763527       rs184682896       rs184670069       rs184270607       rs184231427       rs184175319       rs183967936       rs183786845       rs183602019       rs183568022       rs183495058       rs183079183       rs182995897       rs182614494       rs182295959       rs182176914       rs182080312       rs182076317       rs181993838       rs181928158       rs181839351       rs181811057       rs181653239       rs181548194       rs181398581       rs181305985       rs181285195       rs181149014       rs180887119       rs180836330       rs151051078       rs150494562       rs150367517       rs150313977       rs149747514       rs150055592       rs149444964       rs149323203       rs148675012       rs149131396       rs148352194       rs148551330       rs147996708       rs147929459       rs147753709       rs147545255       rs146785307       rs146505793       rs146283636       rs145961251       rs145843014       rs145704441       rs145640046       rs145257440       rs144993606       rs144844061       rs144782589       rs143995220       rs143742765       rs143735485       rs143527666       rs143552335       rs143328343       rs143294181       rs142713771       rs142563857       rs141656412       rs141636989       rs141305388       rs141344786       rs141276356       rs140955928       rs140772352       rs140584437       rs140537153       rs140338593       rs140052536       rs139868706       rs139788096       rs139596860       rs139496244       rs139063195       rs138711050       rs138657159       rs138175076       rs138148459       rs137993499       rs137852311       rs137978657       rs137852304       rs115039178       rs113934285       rs112634214       rs112169373       rs112081537       rs111744021       rs73499028       rs73499025       rs73490424       rs73214617       rs73490421       rs58878971       rs72620365       rs57897376       rs45479691       rs45468097       rs35075981       rs28382698       rs17250674       rs12847773       rs17002406       rs12844681       rs12397173       rs12844061       rs12011419       rs12008515       rs11442907       rs7881427       rs7058892       rs6612254       rs6612253       rs6612252       rs6612251       rs6612250       rs5960385       rs2858762       rs4826366       rs2742932       rs2735373       rs2735371       rs2735372       rs2283678       rs2213516       rs1476012       rs1016042       rs1022428       rs1012857       rs983824       rs972636       rs983823       rs727468       rs727467       rs704145      

ALAS2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
TCTGGAACTCTTGGCAAGG
60
GGTAAAGATGAAGCCTGCAG
59
TTCATGTGGAGCTTGAGCA
60
AGTAAATCTCGCACCCTGG
60
AAGGCTGGAGGAGATTCTC
59
TCTTGCTCTTCCCATCCTG
59
TTCATGTGGAGCTTGAGCA
60
TGAGTAAATCTCGCACCCTG
60
AAGGCTGGAGGAGATTCTC
59
ATCTTGCTCTTCCCATCCT
58
GTTTCATGTGGAGCTTGAGC
60
AGTAAATCTCGCACCCTGG
60
AAAGGCTGGAGGAGATTCTC
59
TCTTGCTCTTCCCATCCTG
59
TCTGGAACTCTTGGCAAGG
60
GTAAAGATGAAGCCTGCAGC
60
CAGGGCAACAGATTCTCCA
60
ATCTTGCTCTTCCCATCCTG
60
CAGGGCAACAGATTCTCCA
60
AATCTTGCTCTTCCCATCCT
59
      尚未收录相关数据

ALAS2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

ALAS2基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0003870
H0Y6R3(UniProtKB)
IEA
GO:0005759
H0Y6R3(UniProtKB)
IEA
GO:0006778
H0Y6R3(UniProtKB)
IEA
GO:0009058
H0Y6R3(UniProtKB)
IEA
GO:0030170
H0Y6R3(UniProtKB)
IEA
GO:0001666
P22557(UniProtKB)
IDA
GO:0003870
P22557(UniProtKB)
IDA
GO:0003870
P22557(UniProtKB)
TAS
GO:0005515
P22557(UniProtKB)
IPI
GO:0005515
P22557(UniProtKB)
IPI
GO:0005515
P22557(UniProtKB)
IPI
GO:0005515
P22557(UniProtKB)
IPI
GO:0005739
P22557(UniProtKB)
IDA
GO:0005743
P22557(UniProtKB)
IDA
GO:0005759
P22557(UniProtKB)
TAS
GO:0006782
P22557(UniProtKB)
IEA
GO:0006783
P22557(UniProtKB)
ISS
GO:0006783
P22557(UniProtKB)
NAS
GO:0006783
P22557(UniProtKB)
TAS
GO:0006879
P22557(UniProtKB)
ISS
GO:0016594
P22557(UniProtKB)
ISS
GO:0030170
P22557(UniProtKB)
IEA
GO:0030218
P22557(UniProtKB)
ISS
GO:0030218
P22557(UniProtKB)
NAS
GO:0032364
P22557(UniProtKB)
NAS
GO:0042541
P22557(UniProtKB)
ISS
GO:0050662
P22557(UniProtKB)
ISS
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ALAS2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
Hereditary sideroblastic anemia 0.488957582 39 13 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Protoporphyria, Erythropoietic, X-Linked Dominant 0.24 0 4 CLINVAR_CTD_human
Sideroblastic anemia 0.128434561 15 1 BeFree_CTD_human_LHGDN
Erythropoietic Protoporphyria 0.121357209 5 0 BeFree_ORPHANET
Liver Neoplasms, Experimental 0.12 1 0 CTD_human
Anemia, Hemolytic 0.08 1 0 RGD
Hemochromatosis 0.00272435 1 0 LHGDN
Iron Overload 0.002171535 8 2 BeFree
Mucopolysaccharidosis VI 0.001628651 6 0 BeFree
Anemia 0.001085767 4 0 BeFree
Lysosomal Storage Diseases 0.000814326 3 0 BeFree
Porphyria, Erythropoietic 0.000814326 3 0 BeFree
Pyridoxine-responsive sideroblastic anemia 0.000814326 3 0 BeFree
X chromosome-linked pyridoxine responsive sideroblastic anemia 0.000814326 3 0 BeFree
Iron-Refractory Iron Deficiency Anemia 0.000542884 2 0 BeFree
Hereditary hemochromatosis 0.000542884 2 0 BeFree
Anemia, Macrocytic 0.000271442 1 0 BeFree
Refractory anemias 0.000271442 1 0 BeFree
Ataxia 0.000271442 1 0 BeFree
Liver diseases 0.000271442 1 0 BeFree
Mucopolysaccharidoses 0.000271442 1 0 BeFree
Ataxia, Spinocerebellar 0.000271442 1 0 BeFree
Obstructive chronic bronchitis with acute exacerbation 0.000271442 1 0 BeFree
Thalassemia Intermedia 0.000271442 1 0 BeFree
Secondary acquired sideroblastic anemia 0.000271442 1 0 BeFree
Dyserythropoietic anemia 0.000271442 1 0 BeFree
Thrombocytosis 0.000271442 1 0 BeFree
Mental Retardation, X-Linked 0.000271442 1 0 BeFree
Refractory anemia with ringed sideroblasts 0.000271442 1 0 BeFree
Mental Retardation, X-Linked 1 0.000271442 1 0 BeFree
Refractory anemia, without ringed sideroblasts, without excess blasts 0.000271442 1 0 BeFree
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