Sequence in raw or FASTA format:
Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.
| RefSeq Version | NM_198578.3, 171846277 |
| Length | 9239 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. |
| Product | leucine-rich repeat serine/threonine-protein kinase 2 |
| Comment | Summary: This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq]. |
| RefSeq | NP_940980.3 |
| CDS | 122..7705 | Exon (1) | 1..272 | Exon (2) | 1..272 | Exon (3) | 273..358 | Exon (4) | 359..468 | Exon (5) | 469..557 | Exon (6) | 558..692 | Exon (7) | 693..827 | Exon (8) | 828..959 | Exon (9) | 960..1079 | Exon (10) | 1080..1222 | Exon (11) | 1223..1302 | Exon (12) | 1303..1409 | Exon (13) | 1410..1539 | Exon (14) | 1540..1664 | Exon (15) | 1665..1777 | Exon (16) | 1778..1922 | Exon (17) | 1923..2062 | Exon (18) | 2063..2191 | Exon (19) | 2192..2362 | Exon (20) | 2363..2621 | Exon (21) | 2622..2810 | Exon (22) | 2811..2929 | Exon (23) | 2930..2999 | Exon (24) | 3000..3217 | Exon (25) | 3218..3468 | Exon (26) | 3469..3617 | Exon (27) | 3618..3711 | Exon (28) | 3712..3898 | Exon (29) | 3899..4080 | Exon (30) | 4081..4310 | Exon (31) | 4311..4438 | Exon (32) | 4439..4657 | Exon (33) | 4658..4859 | Exon (34) | 4860..4948 | Exon (35) | 4949..5136 | Exon (36) | 5137..5291 | Exon (37) | 5292..5438 | Exon (38) | 5439..5630 | Exon (39) | 5631..5777 | Exon (40) | 5778..5878 | Exon (41) | 5879..6069 | Exon (42) | 6070..6230 | Exon (43) | 6231..6401 | Exon (44) | 6402..6502 | Exon (45) | 6503..6697 | Exon (46) | 6698..6891 | Exon (47) | 6892..6964 | Exon (48) | 6965..7149 | Exon (49) | 7150..7302 | Exon (50) | 7303..7511 | Exon (51) | 7512..7583 | Exon (52) | 7584..9225 |
| Translation | MASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSEHASKLFQGKNI
HVPLLIVLDSYMRVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILK
MLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFMLIFDAMHSFPANDEVQKLG
CKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVE
VLMSGNVRCYNIVVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQ
QYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEGEEDKLFWLEACYKALTWH
RKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASAN
ALSTLLEQNVNFRKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIM
AAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESREDTEFHHKLNMVKKQCFKN
DIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQ
EIQCLGLSLIGYLITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSA
SFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKVAMDDYLKNVMLERACDQN
NSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIG
KGDSQIISLLLRRLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLA
RMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSSMDSVFAQSDDLDSEGSEG
SFLVKKKSNSISVGEFYRDAVLQRCSPNLQRHSNSLGPIFDHEDLLKRKRKILSSDDSLR
SSKLQSHMRHSDSISSLASEREYITSLDLSANELRDIDALSQKCCISVHLEHLEKLELHQ
NALTSFPQQLCETLKSLTHLDLHSNKFTSFPSYLLKMSCIANLDVSRNDIGPSVVLDPTV
KCPTLKQFNLSYNQLSFVPENLTDVVEKLEQLILEGNKISGICSPLRLKELKILNLSKNH
ISSLSENFLEACPKVESFSARMNFLAAMPFLPPSMTILKLSQNKFSCIPEAILNLPHLRS
LDMSSNDIQYLPGPAHWKSLNLRELLFSHNQISILDLSEKAYLWSRVEKLHLSHNKLKEI
PPEIGCLENLTSLDVSYNLELRSFPNEMGKLSKIWDLPLDELHLNFDFKHIGCKAKDIIR
FLQQRLKKAVPYNRMKLMIVGNTGSGKTTLLQQLMKTKKSDLGMQSATVGIDVKDWPIQI
RDKRKRDLVLNVWDFAGREEFYSTHPHFMTQRALYLAVYDLSKGQAEVDAMKPWLFNIKA
RASSSPVILVGTHLDVSDEKQRKACMSKITKELLNKRGFPAIRDYHFVNATEESDALAKL
RKTIINESLNFKIRDQLVVGQLIPDCYVELEKIILSERKNVPIEFPVIDRKRLLQLVREN
QLQLDENELPHAVHFLNESGVLLHFQDPALQLSDLYFVEPKWLCKIMAQILTVKVEGCPK
HPKGIISRRDVEKFLSKKRKFPKNYMSQYFKLLEKFQIALPIGEEYLLVPSSLSDHRPVI
ELPHCENSEIIIRLYEMPYFPMGFWSRLINRLLEISPYMLSGRERALRPNRMYWRQGIYL
NWSPEAYCLVGSEVLDNHPESFLKITVPSCRKGCILLGQVVDHIDSLMEEWFPGLLEIDI
CGEGETLLKKWALYSFNDGEEHQKILLDDLMKKAEEGDLLVNPDQPRLTIPISQIAPDLI
LADLPRNIMLNNDELEFEQAPEFLLGDGSFGSVYRAAYEGEEVAVKIFNKHTSLRLLRQE
LVVLCHLHHPSLISLLAAGIRPRMLVMELASKGSLDRLLQQDKASLTRTLQHRIALHVAD
GLRYLHSAMIIYRDLKPHNVLLFTLYPNAAIIAKIADYGIAQYCCRMGIKTSEGTPGFRA
PEVARGNVIYNQQADVYSFGLLLYDILTTGGRIVEGLKFPNEFDELEIQGKLPDPVKEYG
CAPWPMVEKLIKQCLKENPQERPTSAQVFDILNSAELVCLTRRILLPKNVIVECMVATHH
NSRNASIWLGCGHTDRGQLSFLDLNTEGYTSEEVADSRILCLALVHLPVEKESWIVSGTQ
SGTLLVINTEDGKKRHTLEKMTDSVTCLYCNSFSKQSKQKNFLLVGTADGKLAIFEDKTV
KLKGAAPLKILNIGNVSTPLMCLSESTNSTERNVMWGGCGTKIFSFSNDFTIQKLIETRT
SQLFSYAAFSDSNIITVVVDTALYIAKQNSPVVEVWDKKTEKLCGLIDCVHFLREVMVKE
NKESKHKMSYSGRVKTLCLQKNTALWIGTGGGHILLLDLSTRRLIRVIYNFCNSVRVMMT
AQLGSLKNVMLVLGYNRKNTEGTQKQKEIQSCLTVWDINLPHEVQNLEKHIEVRKELAEK
MRRTSVE
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| Gene Symbol | LRRK2 |
| Gene Synonym | AURA17; DARDARIN; PARK8; RIPK7; ROCO2 |
| Chromosome | 12 |
| Locus Map | 12q12 |
| All Transcripts | NM_198578 |
| Title | Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies . |
| Author | Nalls,M.A., Plagnol,V., Hernandez,D.G., Sharma,M., Sheerin,U.M., Saad,M., Simon-Sanchez,J., Schulte,C., Lesage,S., Sveinbjornsdottir,S., Stefansson,K., Martinez,M., Hardy,J., Heutink,P., Brice,A., Gasser,T., Singleton,A.B. and Wood,N.W. |
| Journal | Lancet 377 (9766), 641-649 (2011) |
| Title | LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool . |
| Author | Piccoli,G., Condliffe,S.B., Bauer,M., Giesert,F., Boldt,K., De Astis,S., Meixner,A., Sarioglu,H., Vogt-Weisenhorn,D.M., Wurst,W., Gloeckner,C.J., Matteoli,M., Sala,C. and Ueffing,M. |
| Journal | J. Neurosci. 31 (6), 2225-2237 (2011) |
| Title | Chromosomal amplification of leucine-rich repeat kinase-2 (LRRK2) is required for oncogenic MET signaling in papillary renal and thyroid carcinomas . |
| Author | Looyenga,B.D., Furge,K.A., Dykema,K.J., Koeman,J., Swiatek,P.J., Giordano,T.J., West,A.B., Resau,J.H., Teh,B.T. and MacKeigan,J.P. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 108 (4), 1439-1444 (2011) |
| Title | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci . |
| Author | Franke,A., McGovern,D.P., Barrett,J.C., Wang,K., Radford-Smith,G.L., Ahmad,T., Lees,C.W., Balschun,T., Lee,J., Roberts,R., Anderson,C.A., Bis,J.C., Bumpstead,S., Ellinghaus,D., Festen,E.M., Georges,M., Green,T., Haritunians,T., Jostins,L., Latiano,A., Mathew,C.G., Montgomery,G.W., Prescott,N.J., Raychaudhuri,S., Rotter,J.I., Schumm,P., Sharma,Y., Simms,L.A., Taylor,K.D., Whiteman,D., Wijmenga,C., Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C., Cohen,A., Colombel,J.F., Cottone,M., Stronati,L., Denson,T., De Vos,M., D'Inca,R., Dubinsky,M., Edwards,C., Florin,T., Franchimont,D., Gearry,R., Glas,J., Van Gossum,A., Guthery,S.L., Halfvarson,J., Verspaget,H.W., Hugot,J.P., Karban,A., Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C., Louis,E., Mowat,C., Newman,W., Panes,J., Phillips,A., Proctor,D.D., Regueiro,M., Russell,R., Rutgeerts,P., Sanderson,J., Sans,M., Seibold,F., Steinhart,A.H., Stokkers,P.C., Torkvist,L., Kullak-Ublick,G., Wilson,D., Walters,T., Targan,S.R., Brant,S.R., Rioux,J.D., D'Amato,M., Weersma,R.K., Kugathasan,S., Griffiths,A.M., Mansfield,J.C., Vermeire,S., Duerr,R.H., Silverberg,M.S., Satsangi,J., Schreiber,S., Cho,J.H., Annese,V., Hakonarson,H., Daly,M.J. and Parkes,M. |
| Journal | Nat. Genet. 42 (12), 1118-1125 (2010) |
| Title | Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2 . |
| Author | Mortiboys,H., Johansen,K.K., Aasly,J.O. and Bandmann,O. |
| Journal | Neurology 75 (22), 2017-2020 (2010) |
| Title | Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology . |
| Author | Zimprich,A., Biskup,S., Leitner,P., Lichtner,P., Farrer,M., Lincoln,S., Kachergus,J., Hulihan,M., Uitti,R.J., Calne,D.B., Stoessl,A.J., Pfeiffer,R.F., Patenge,N., Carbajal,I.C., Vieregge,P., Asmus,F., Muller-Myhsok,B., Dickson,D.W., Meitinger,T., Strom,T.M., Wszolek,Z.K. and Gasser,T. |
| Journal | Neuron 44 (4), 601-607 (2004) |
| Title | Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease . |
| Author | Paisan-Ruiz,C., Jain,S., Evans,E.W., Gilks,W.P., Simon,J., van der Brug,M., Lopez de Munain,A., Aparicio,S., Gil,A.M., Khan,N., Johnson,J., Martinez,J.R., Nicholl,D., Carrera,I.M., Pena,A.S., de Silva,R., Lees,A., Marti-Masso,J.F., Perez-Tur,J., Wood,N.W. and Singleton,A.B. |
| Journal | Neuron 44 (4), 595-600 (2004) |
| Title | The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval . |
| Author | Zimprich,A., Muller-Myhsok,B., Farrer,M., Leitner,P., Sharma,M., Hulihan,M., Lockhart,P., Strongosky,A., Kachergus,J., Calne,D.B., Stoessl,J., Uitti,R.J., Pfeiffer,R.F., Trenkwalder,C., Homann,N., Ott,E., Wenzel,K., Asmus,F., Hardy,J., Wszolek,Z. and Gasser,T. |
| Journal | Am. J. Hum. Genet. 74 (1), 11-19 (2004) |
| Title | Identifying novel transcripts and novel genes in the human genome by using novel SAGE tags . |
| Author | Chen,J., Sun,M., Lee,S., Zhou,G., Rowley,J.D. and Wang,S.M. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 99 (19), 12257-12262 (2002) |
| Title | A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1 . |
| Author | Funayama,M., Hasegawa,K., Kowa,H., Saito,M., Tsuji,S. and Obata,F. |
| Journal | Ann. Neurol. 51 (3), 296-301 (2002) |
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