PRPH2基因详情-基因数据库-基因云馆

PRPH2(peripherin 2 (retinal degeneration, slow)) 转至新版数据库

基因简称(symbol)

PRPH2 [HGNC] [GeneCards] [NCBI]

基因种类(locus group)

protein-coding gene

同源简称(alias symbol)

TSPAN22|rd2|CACD2

基因家族代码(gene_family_id)

768 [HGNC] [GenScript]

omim代码

179605

entrez码

5961 [Vega]

vega基因码

OTTHUMG00000014701

ensembl基因码

ENSG00000112619 [Ensembl]

基因家族(gene family)

Tetraspanins

refseq数据库代号

NM_000322

更多...

基因种类(locus_type)

gene with protein product

基因名称状态(status)

Approved

location_sortable

06p21.1

同源基因名称(alias name)

基因名称批准使用时间(date_approved_reserved)

1990-03-06T00:00:00Z

基因简称更名时间(date_symbol_changed)

2006-11-23T00:00:00Z

基因名称更名时间(date_name_changed)

2006-11-23T00:00:00Z

更新时间(date_modified)

2014-11-19T00:00:00Z

ucsc码

uc003osk.3

ena

ccds数据码

CCDS4871

uniprot数据码

P23942

pubmed代码

1749427

mgd码

MGI:102791

rgd码

RGD:3549

生命科学数据库(lsdb)

更新时间(date modified)

2014-11-19T00:00:00Z

cosmic

PRPH2

mirbase

基因曾用简称(prev symbol)

RP7|RDS

基因曾用名称(prev name)

retinal degeneration, slow (retinitis pigmentosa 7)|retinal degeneration, slow

homeodb

cosmic

PRPH2

snornabase

bioparadigms slc

orphanet

118070

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

收起

6p21.1

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):] 由该基因编码的蛋白是跨膜4超家族的成员，也称为四旋家族。大多数这些成员是细胞表面蛋白质的特征在于四个疏水区的存在。蛋白质介导其在细胞发育，活化，生长和运动的调节作用的信号转导事件。这个编码的蛋白是在这两个杆和视锥感光细胞外节中发现的细胞表面糖蛋白。它可以如参与外段磁盘稳定和压实或在维持轮圈的曲率的粘附分子的作用。这种蛋白是盘形态发生是至关重要的。在这个基因的缺陷与中枢和外周视网膜变性有关。一些不同的表型的不同失调的是常染色体显性遗传视网膜色素变性，渐进性黄斑变性，黄斑营养不良和视网膜色素变性digenic。 [由RefSeq的，2008年7月提供]

OMIM数据库中对PRPH2基因的介绍 Wikipedia数据库中对PRPH2基因的介绍

PRPH2基因的碱基序列：[NCBI]

PRPH2基因的碱基突变：显示全部snp

rs835 rs1039 rs222221 rs222222 rs361524 rs371323 rs377118 rs378835 rs380246 rs389999 rs390659 rs393034 rs394653 rs405043 rs405059 rs410681 rs413399 rs414040 rs414082 rs414285 rs415906 rs422717 rs425876 rs429655 rs432753 rs433286 rs434102 rs434439 rs438995 rs649472 rs665368 rs665442 rs668736 rs672250 rs675825 rs1042562 rs1042563

rs1804284 rs1985909 rs1985910 rs2268682 rs2268683 rs2268684 rs2268686 rs2268687 rs3176988 rs3793007 rs3805927 rs3818086 rs3818087 rs3846893 rs4714621 rs4714622 rs6458301 rs6458302 rs6915637 rs6928781 rs6931385 rs7742623 rs7744151 rs7752619 rs7752711 rs7757333 rs7764439 rs7768690 rs7769412 rs9296398 rs9349239 rs9357402 rs9357403 rs9367162 rs9369378 rs9369380 rs9369381 rs9381211 rs9381213 rs9394918 rs9394920 rs9394921 rs9462817 rs9462818 rs9471896 rs9471900 rs9471904 rs9471905 rs9471906 rs9471907 rs9471908 rs9471909 rs10948044 rs11309863 rs11449422 rs11754813 rs12111487 rs12191730 rs12207176 rs12209392 rs12333110 rs12333241 rs12660132 rs12662721 rs13214506 rs13216368 rs34069760 rs34139004 rs34162811 rs34492701 rs34722725 rs35511056 rs36068676 rs41273818 rs41273820 rs45550933 rs56194662 rs56385342 rs56775499 rs57333654 rs58035225 rs58317577 rs61729453 rs61748434 rs61754402 rs61755766 rs61755767 rs61755770 rs61755771 rs61755775 rs61755778 rs61755783 rs61755784 rs61755791 rs61755793 rs61755797 rs61755800 rs61755808 rs61755809 rs61755810 rs61755813 rs62416277 rs62416278 rs62416279 rs62645936 rs62645939 rs67149086 rs67162942 rs67449353 rs67473485 rs67541052 rs70990126 rs70990127 rs71560775 rs71560776 rs71748770 rs71765744 rs73424494 rs73424501 rs73426405 rs73426411 rs73426412 rs73426429 rs73426441 rs73426445 rs73426451 rs73426469 rs73426471 rs73426482 rs74579922 rs74657251 rs74717455 rs74755837 rs74799602 rs74857185 rs75063935 rs75120709 rs75455762 rs75499937 rs75508940 rs75623073 rs75745023 rs75792887 rs76194394 rs76318325 rs76754927 rs76790138 rs76792200 rs76966140 rs76968282 rs76989855 rs77163893 rs77166572 rs77309800 rs77363417 rs77408186 rs77412962 rs77570211 rs77680074 rs77854794 rs77969103 rs78083544 rs78099437 rs78104995 rs78196971 rs78229993 rs78458404 rs78575428 rs78726766 rs79067430 rs79192712 rs79663042 rs79685477 rs79774607 rs79799400 rs79831259 rs79862747 rs80039659 rs80231037 rs111277154 rs111745775 rs111965569 rs111998671 rs112047224 rs112093964 rs112157536 rs112219312 rs112246402 rs112277657 rs112294226 rs112428327 rs112600731 rs113010198 rs113027921 rs113087672 rs113139388 rs113169358 rs113384495 rs113388052 rs113468838 rs113632896 rs113689552 rs113752169 rs113868979 rs114062933 rs114358331 rs114380928 rs114559237 rs114821100 rs114832213 rs115090309 rs115248675 rs115252154 rs115258915 rs115262452 rs115405259 rs115451690 rs115611161 rs115709622 rs115812271 rs115881532 rs115960864 rs116008903 rs116158468 rs116301121 rs116375950 rs116432051 rs116499323 rs116526310 rs116783359 rs117690213 rs121918567 rs137853904 rs137959313 rs138123938 rs138155792 rs138158559 rs138423809 rs138434841 rs138686766 rs138718950 rs138761281 rs138899590 rs138991050 rs139034099 rs139050912 rs139177846 rs139185976 rs139221552 rs139329966 rs139348649 rs139558720 rs139577729 rs139580616 rs139650764 rs139733128 rs139822103 rs139893116 rs139936445 rs140140438 rs140227298 rs140320428 rs140367690 rs140406696 rs140486459 rs140501230 rs140566374 rs140778820 rs140983193 rs141077125 rs141101109 rs141191999 rs141229301 rs141254136 rs141795562 rs142036178 rs142119216 rs142140547 rs142157549 rs142255849 rs142312897 rs142381301 rs142634278 rs142668985 rs142691273 rs142920492 rs142982855 rs142990052 rs143048609 rs143096101 rs143192355 rs143293289 rs143367935 rs143529514 rs143710799 rs143723269 rs143824337 rs143828223 rs143861784 rs143895461 rs144011444 rs144111167 rs144177849 rs144220063 rs144319453 rs144358711 rs144487694 rs144530432 rs144588545 rs144732850 rs144776772 rs144905501 rs144934240 rs144961499 rs145021106 rs145122825 rs145240872 rs145462486 rs145621785 rs145660653 rs145762135 rs145851758 rs145880437 rs145953097 rs145963836 rs146042362 rs146328459 rs146365613 rs146506795 rs146635371 rs146659849 rs146670701 rs146686238 rs146703538 rs146778892 rs146844134 rs146851449 rs147257902 rs147426814 rs147447757 rs147457347 rs147532861 rs147743297 rs147816282 rs147826143 rs147923476 rs147985021 rs148038821 rs148121706 rs148261385 rs148280115 rs148312104 rs148439983 rs148449336 rs148513859 rs148595657 rs148629088 rs148711908 rs148904198 rs148947154 rs148996170 rs149029005 rs149176977 rs149263805 rs149317127 rs149350442 rs149665598 rs149930118 rs149963711 rs150077355 rs150362315 rs150381599 rs150392758 rs150555130 rs150637495 rs150687119 rs150695654 rs150709505 rs150955037 rs151008275 rs151039421 rs151090248 rs180775924 rs181224579 rs181332416 rs181460075 rs181750279 rs181760607 rs181948827 rs182172184 rs182190638 rs182416696 rs182704478 rs182726519 rs182775250 rs183285293 rs183409467 rs183476292 rs183714869 rs183727950 rs183925134 rs184071304 rs184156775 rs184160228 rs184403574 rs184491210 rs184690060 rs184881422 rs185036139 rs185271451 rs185644711 rs185692292 rs186034035 rs186174308 rs186203988 rs186413927 rs186438346 rs186588252 rs186620989 rs186815683 rs186855213 rs186863197 rs187082296 rs187315535 rs187424295 rs187651750 rs187919973 rs188075280 rs188156595 rs188177145 rs188402377 rs188596779 rs188694434 rs188968208 rs188995932 rs189080894 rs189358082 rs189476016 rs189505641 rs189738156 rs189809502 rs189840000 rs189960238 rs190208820 rs190249998 rs190259340 rs190495671 rs190515219 rs190518789 rs191012339 rs191015489 rs191176215 rs191227229 rs191622655 rs191852639 rs192057272 rs192150925 rs192307150 rs192346608 rs192698589 rs192744515 rs192968366 rs193076281 rs193204869 rs199572514 rs199939296 rs200009675 rs200131784 rs200269333 rs200500819 rs200876455 rs200978519 rs201018137 rs201231118 rs201249148 rs201501819 rs201664284 rs202230698 rs281865373 rs367763680 rs367790241 rs368234195 rs368257452 rs368337679 rs368680822 rs369211324 rs369381280 rs369507460 rs369556021 rs369600432 rs370198704 rs370431931 rs370572329 rs370855023 rs370994796 rs371001155 rs371096327 rs371135943 rs371865094 rs371990988 rs372238020 rs372456408 rs373015247 rs373026374 rs373099618 rs373113428 rs373184025 rs373253514 rs373505634 rs373916346 rs374468281 rs375052357 rs375090109 rs375136092 rs375218731 rs375272298 rs375325973 rs375823961 rs375969072 rs375978676 rs376120359 rs376823910 rs376896954 rs376964158 rs377266492 rs377380153 rs377728309 rs398001328 rs398001329 rs398001331 rs398001332 rs527694160 rs527766789 rs527929800 rs527930696 rs528197804 rs528298354 rs528601474 rs528789836 rs528829941 rs528927432 rs528965777 rs529100150 rs529347120 rs529491016 rs529927193 rs529994467 rs530154106 rs530257071 rs530659833 rs530771098 rs530838200 rs530915853 rs530954507 rs531127376 rs531163228 rs531205999 rs531432903 rs531599655 rs531671104 rs531773849 rs532047694 rs532290697 rs532319562 rs532359041 rs532486184 rs532597660 rs532738982 rs532778084 rs532801785 rs532848768 rs532848936 rs533007150 rs533653895 rs533943614 rs534287297 rs534578418 rs534616340 rs534782832 rs534872613 rs534900059 rs535038210 rs535111150 rs535120627 rs535224873 rs535380944 rs535389488 rs535449380 rs535810483 rs535953699 rs536057594 rs536094787 rs536115835 rs536197733 rs536292524 rs536451938 rs536573178 rs537051516 rs537286629 rs537488661 rs537532190 rs537568546 rs537653414 rs537674598 rs537783898 rs537888950 rs538315514 rs538326060 rs538466667 rs538482900 rs538703472 rs538736258 rs538737836 rs538773701 rs538845975 rs538945892 rs538978861 rs539058375 rs539142651 rs539388121 rs539470527 rs539502024 rs539620184 rs539676287 rs539935347 rs539935364 rs539982056 rs540133788 rs540170045 rs540563788 rs540631650 rs540634568 rs540920336 rs541029120 rs541098873 rs541160592 rs541193539 rs541302900 rs541431793 rs541501533 rs541637239 rs541861868 rs542132353 rs542250075 rs542274057 rs542296728 rs542381610 rs542418404 rs542493920 rs542672466 rs542732149 rs542825740 rs543295755 rs543522179 rs543549612 rs543617626 rs543703718 rs543821209 rs543864407 rs543865934 rs543950436 rs543961555 rs543969148 rs544114215 rs544217256 rs544603148 rs545144500 rs545161416 rs545683605 rs545716226 rs545823103 rs545980488 rs546205213 rs546205533 rs546241365 rs546318749 rs546352784 rs546367027 rs546481075 rs546738840 rs546820749 rs547027373 rs547405579 rs547488343 rs547619852 rs547710013 rs548297008 rs548306517 rs548418119 rs548528553 rs548641112 rs548698024 rs548815998 rs548977488 rs549157196 rs549439041 rs549540077 rs549859880 rs549896515 rs549985747 rs550011174 rs550022780 rs550143460 rs550147416 rs550520878 rs550854347 rs551098403 rs551177358 rs551252795 rs551346344 rs551506214 rs551819984 rs551824100 rs551940413 rs551973524 rs552408994 rs552418069 rs552527112 rs552669047 rs552708704 rs552792254 rs552819044 rs552994922 rs553022757 rs553059380 rs553196456 rs553308496 rs553309483 rs553513335 rs553528008 rs553542573 rs553605565 rs553692089 rs553794831 rs554134404 rs554158391 rs554244879 rs554419503 rs554659560 rs554745563 rs554842591 rs554889161 rs554945964 rs554958694 rs555031674 rs555112175 rs555130079 rs555141146 rs555251682 rs555386280 rs555392910 rs555627878 rs555856844 rs555942731 rs555997672 rs556070401 rs556158578 rs556301969 rs556310913 rs556408531 rs556446893 rs556665522 rs556979791 rs557062064 rs557145536 rs557216505 rs557387816 rs557499696 rs557513873 rs557675772 rs557931463 rs558016218 rs558060514 rs558116851 rs558252095 rs558278400 rs558457592 rs558607148 rs558638560 rs558707331 rs558726477 rs558781035 rs558802389 rs559192015 rs559295249 rs559466493 rs559487561 rs559650344 rs559688514 rs559758278 rs559825123 rs559994424 rs560130544 rs560518704 rs560739431 rs560852495 rs561017507 rs561021494 rs561058073 rs561353608 rs561445105 rs561467729 rs561587259 rs561809595 rs562027953 rs562043939 rs562418195 rs562449175 rs562486899 rs562499937 rs563048801 rs563116228 rs563260827 rs563466730 rs563581127 rs563668386 rs563671745 rs563685309 rs563775558 rs563804955 rs563844232 rs564032015 rs564177869 rs564558305 rs564615401 rs564658668 rs564738284 rs564775022 rs564869445 rs565002088 rs565030197 rs565038650 rs565111985 rs565381177 rs565483347 rs565501138 rs565782094 rs565840741 rs565870797 rs565910295 rs565982047 rs566043827 rs566058566 rs566128563 rs566238868 rs566820481 rs566904620 rs566995517 rs567107031 rs567120808 rs567141858 rs567160089 rs567322191 rs567359673 rs567407023 rs567468880 rs567678322 rs567688236 rs567761927 rs567922808 rs568083283 rs568278757 rs568375636 rs568381208 rs568510566 rs568510614 rs568598847 rs568665213 rs568793924 rs569256802 rs569784281 rs569856109 rs569893470 rs570491219 rs570533387 rs570635778 rs570777323 rs570971206 rs571045031 rs571082575 rs571129454 rs571607587 rs571619193 rs571893825 rs572056376 rs572058789 rs572202759 rs572309837 rs572320105 rs572428832 rs572509545 rs572613522 rs572670070 rs572790730 rs572965660 rs573037090 rs573075162 rs573201087 rs573230762 rs573416213 rs573553333 rs573586707 rs573622142 rs573638952 rs573667549 rs573734891 rs573738061 rs574297962 rs574419606 rs574444631 rs574893305 rs574930074 rs574930557 rs574973641 rs576073998 rs576104202 rs576144511 rs576145299 rs576180346 rs576270248 rs576797465 rs576865395 rs577349780 rs577369973 rs577473555 rs577531951 rs577950176 rs578206754 rs745427463 rs745775867 rs745807357 rs746349275 rs746742888 rs746744932 rs746836512 rs746940785 rs747689734 rs747893076 rs747987442 rs748478593 rs748860726 rs749136402 rs749201548 rs749258271 rs749295756 rs749391375 rs749603273 rs750076275 rs750164572 rs750578032 rs750904649 rs750992392 rs751001788 rs751049619 rs751404655 rs751480327 rs751698556 rs751894791 rs751900290 rs751946505 rs751995730 rs752365478 rs752610846 rs752700882 rs752758993 rs752845467 rs752955075 rs753035269 rs753117002 rs753507738 rs753657349 rs754261018 rs754337687 rs755239769 rs755449912 rs755984632 rs756613766 rs756746825 rs756876570 rs757179780 rs757778182 rs757988141 rs758068955 rs758276201 rs758336829 rs758513237 rs758660018 rs758924894 rs759011231 rs759720567 rs759752477 rs759771485 rs760213205 rs760311433 rs760687443 rs760759701 rs760803268 rs761246991 rs761275918 rs761320905 rs761440220 rs761542005 rs761932874 rs762209841 rs762308246 rs762586733 rs762660751 rs762692183 rs763091791 rs763553312 rs763666304 rs764626088 rs764785171 rs764833128 rs765006899 rs765404906 rs765805559 rs766542243 rs766705605 rs766939689 rs767471467 rs767850825 rs768122667 rs768210586 rs768400169 rs768473101 rs768773825 rs768877259 rs769107846 rs769409243 rs769521534 rs769723975 rs769939935 rs770029839 rs770036712 rs771015384 rs771068866 rs771318455 rs771647336 rs771829987 rs771868894 rs772157862 rs772261412 rs772701367 rs772861671 rs773169153 rs773254206 rs773342762 rs773951621 rs774037962 rs774210091 rs774283806 rs774584357 rs775059514 rs775097028 rs775176959 rs776760107 rs776805706 rs777069485 rs777534414 rs777633372 rs777717115 rs777764923 rs778093966 rs778094343 rs779048042 rs779326874 rs779414078 rs779541654 rs779803376 rs780175779 rs780477133 rs780590186 rs780939311 rs780954441 rs781029409 rs781212034 rs781256236 rs781604214 rs781631103 rs869070534

PRPH2基因在不同组织中的表达： [UniProt]

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

GGGACTGGTTTGAGATTCAG

58

TGCTCTTGATTCGATCTTTGAC

59

CCCTGCTGAGCTACTACAG

59

TAATGGTCACCTCGAAGAGC

60

GAGCTACTACAGCAGCCTC

60

CCAATTGTAATGGTCACCTCG

59

尚未收录相关数据

PRPH2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

PRPH2基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0001750

P23942(UniProtKB)

IEA

GO:0005887

P23942(UniProtKB)

IBA

GO:0007155

P23942(UniProtKB)

IEA

GO:0007166

P23942(UniProtKB)

IBA

GO:0007601

P23942(UniProtKB)

IEA

GO:0016021

P23942(UniProtKB)

TAS

GO:0060041

P23942(UniProtKB)

IEA

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PRPH2基因的相关microRNA：

hsa-miR-96 hsa-miR-96*

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
Retinitis Pigmentosa 7	0.44	6	9	CLINVAR_CTD_human_MGD_UNIPROT
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	0.360271442	2	4	BeFree_CLINVAR_CTD_human_UNIPROT
Patterned dystrophy of retinal pigment epithelium	0.36	4	7	CLINVAR_CTD_human_UNIPROT
Retinitis Pigmentosa	0.260150169	29	12	BeFree_CLINVAR_GAD_LHGDN_ORPHANET
Adult-Onset Vitelliform Macular Dystrophy	0.243724241	6	7	BeFree_CLINVAR_GAD_UNIPROT
Fundus Albipunctatus	0.24	0	0	CTD_human_ORPHANET
Central areolar choroidal sclerosis	0.121085767	4	1	BeFree_ORPHANET
Vitelliform Macular Dystrophy	0.120542884	2	0	BeFree_CTD_human
Retinitis Pigmentosa 7, Digenic	0.12	0	1	CLINVAR
Retinal Diseases	0.084267125	9	0	BeFree_GAD_RGD
Age related macular degeneration	0.017783137	30	3	BeFree_GAD_LHGDN
Autosomal dominant retinitis pigmentosa	0.007871814	29	4	BeFree
Retinal Dystrophies	0.005081451	10	1	BeFree_GAD
Hereditary macular dystrophy	0.004071628	15	3	BeFree
Macular dystrophy	0.004071628	15	3	BeFree
Retinal Degeneration	0.002985861	11	1	BeFree
Neoplasm Metastasis	0.00272435	1	0	LHGDN
Choroidal Neovascularization	0.00272435	1	0	LHGDN
Macular degeneration	0.001628651	6	1	BeFree
Disorder of macula of retina	0.001357209	5	1	BeFree
Retinitis punctata albescens (disorder)	0.001085767	4	1	BeFree
Borderline Personality Disorder	0.000814326	3	0	BeFree
Bronchopulmonary Dysplasia	0.000814326	3	0	BeFree
RETINITIS PIGMENTOSA 1	0.000814326	3	0	BeFree
Drusen	0.000814326	3	0	BeFree
Peripheral degeneration of retina	0.000542884	2	1	BeFree
Geographic Atrophy	0.000542884	2	1	BeFree
Photoreceptor degeneration	0.000542884	2	0	BeFree
Macular Edema, Cystoid	0.000271442	1	0	BeFree
Autosomal Recessive Polycystic Kidney Disease	0.000271442	1	0	BeFree
Dominant drusen	0.000271442	1	1	BeFree
Autosomal recessive retinitis pigmentosa	0.000271442	1	0	BeFree
Leber Congenital Amaurosis	0.000271442	1	0	BeFree
Cone dystrophy	0.000271442	1	1	BeFree