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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001141973 Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

RefSeq Version NM_001141973.1, 213972618
Length 3981 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 2, mRNA.
Product probable cation-transporting ATPase 13A2 isoform 2
Comment

Summary: This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 2.

RefSeq NP_001135445.1
CDS 191..3718
Misc Feature(1)173..175
Misc Feature(2)227..292
Misc Feature(3)227..292
Misc Feature(4)305..3409
Misc Feature(5)305..682
Misc Feature(6)326..388
Misc Feature(7)866..934
Misc Feature(8)944..1003
Misc Feature(9)1001..1660
Misc Feature(10)1451..1510
Misc Feature(11)1553..1615
Misc Feature(12)<2057..2170
Misc Feature(13)<2723..>2872
Misc Feature(14)2972..3031
Misc Feature(15)3065..3118
Misc Feature(16)3167..3229
Misc Feature(17)3314..3373
Misc Feature(18)3413..3466
Misc Feature(19)3515..3577
Misc Feature(20)join(<1990,<2812,<3145,<3367,<3691)
Exon (1)1..200
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (2)201..295
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (3)296..478
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (4)479..537
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (5)538..652
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (6)653..732
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (7)733..810
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (8)811..880
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (9)881..1015
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (10)1016..1082
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (11)1083..1214
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (12)1215..1370
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (13)1371..1481
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (14)1482..1528
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (15)1529..1717
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (16)1718..1924
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (17)1925..2020
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (18)2021..2180
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (19)2181..2301
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (20)2302..2426
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (21)2427..2587
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (22)2588..2704
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (23)2705..2784
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (24)2785..2937
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (25)2938..3034
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (26)3035..3258
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (27)3259..3410
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (28)3411..3580
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Exon (29)3581..3981
Gene:ATP13A2
Gene Synonym:CLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Translation MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGI PLLLFRWKPLWGVRLRLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPS PQSQAEDGRSQAAVGAVPEGAWKDTAQLHKSEEAKRVLRYYLFQGQRYIWIETQQAFYQV SLLDHGRSCDDVHRSRHGLSLQDQMVRKAIYGPNVISIPVKSYPQLLVDEALNPYYGFQA FSIALWLADHYYWYALCIFLISSISICLSLYKTRKQSQTLRDMVKLSMRVCVCRPGGEEE WVDSSELVPGDCLVLPQEGGLMPCDAALVAGECMVNESSLTGESIPVLKTALPEGLGPYC AETHRRHTLFCGTLILQARAYVGPHVLAVVTRTGFCTAKGGLVSSILHPRPINFKFYKHS MKFVAALSVLALLGTIYSIFILYRNRVPLNEIVIRALDLVTVVVPPALPAAMTVCTLYAQ SRLRRQGIFCIHPLRINLGGKLQLVCFDKTGTLTEDGLDVMGVVPLKGQAFLPLVPEPRR LPVGPLLRALATCHALSRLQDTPVGDPMDLKMVESTGWVLEEEPAADSAFGTQVLAVMRP PLWEPQLQAMEEPPVPVSVLHRFPFSSALQRMSVVVAWPGATQPEAYVKGSPELVAGLCN PETVPTDFAQMLQSYTAAGYRVVALASKPLPTVPSLEAAQQLTRDTVEGDLSLLGLLVMR NLLKPQTTPVIQALRRTRIRAVMVTGDNLQTAVTVARGCGMVAPQEHLIIVHATHPERGQ PASLEFLPMESPTAVNGVKDPDQAASYTVEPDPRSRHLALSGPTFGIIVKHFPKLLPKVL VQGTVFARMAPEQKTELVCELQKLQYCVGMCGDGANDCGALKAADVGISLSQAEASVVSP FTSSMASIECVPMVIREGRCSLDTSFSVFKYMALYSLTQFISVLILYTINTNLGDLQFLA IDLVITTTVAVLMSRTGPALVLGRVRPPGALLSVPVLSSLLLQMVLVTGVQLGGYFLTLA QPWFVPLNRTVAAPDNLPNYENTVVFSLSSFQYLILAAAVSKGAPFRRPLYTNVPFLVAL ALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLLLGLVTLNFVGAFMLESVLDQCLPAC LRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR
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Position Chain Variation Link
complement(21)-dbSNP:
complement(21)-g, adbSNP:150122517
complement(109)-t, cdbSNP:56173726
complement(215)-dbSNP:
complement(215)-t, cdbSNP:143579092
complement(225)-g, adbSNP:151117874
complement(226)-t, cdbSNP:61741838
complement(250)-t, cdbSNP:148564294
complement(318..319)-dbSNP:
complement(318..319)-, cdbSNP:146440791
complement(322)-t, cdbSNP:200816691
complement(335)-g, adbSNP:56379718
complement(347)-t, cdbSNP:142699829
complement(385)-g, adbSNP:201564843
complement(488)-dbSNP:
complement(488)-t, adbSNP:138365509
complement(526)-g, adbSNP:200256912
complement(529)-g, adbSNP:146086326
complement(547)-dbSNP:
complement(547)-t, cdbSNP:141777915
complement(584)-t, cdbSNP:200934541
complement(586)-t, cdbSNP:140631323
complement(621)-t, adbSNP:145031260
complement(625)-t, cdbSNP:201154350
complement(643)-t, cdbSNP:55979991
complement(665)-dbSNP:
complement(665)-g, adbSNP:199624796
complement(728)-t, cdbSNP:140871595
complement(763)-dbSNP:
complement(763)-g, adbSNP:147384248
complement(824)-dbSNP:
complement(824)-t, cdbSNP:199961048
complement(850)-g, cdbSNP:143859836
complement(877)-g, adbSNP:149548401
complement(920)-dbSNP:
complement(920)-t, cdbSNP:199661793
complement(921)-g, adbSNP:145515028
complement(997)-t, cdbSNP:138649639
complement(1014)-t, cdbSNP:148094721
complement(1053)-dbSNP:
complement(1053)-g, adbSNP:149017686
complement(1055)-g, adbSNP:144898239
complement(1056)-g, adbSNP:56367069
complement(1080)-c, adbSNP:201149894
complement(1091)-dbSNP:
complement(1091)-g, adbSNP:200390800
complement(1118)-t, cdbSNP:150519745
complement(1126)-g, adbSNP:148391179
complement(1140)-t, cdbSNP:17855550
complement(1169)-t, cdbSNP:141816878
complement(1180)-t, cdbSNP:56290406
complement(1200)-t, cdbSNP:112007434
complement(1255)-dbSNP:
complement(1255)-g, cdbSNP:55943100
complement(1266)-t, gdbSNP:138996866
complement(1283)-g, adbSNP:142616130
complement(1297)-g, cdbSNP:142916745
complement(1300)-g, adbSNP:200948160
complement(1303)-g, adbSNP:148970081
complement(1312)-g, adbSNP:139049811
complement(1326)-t, cdbSNP:143512623
complement(1341)-t, cdbSNP:56275621
complement(1345)-g, adbSNP:201661480
complement(1346)-t, cdbSNP:113105667
complement(1378)-dbSNP:
complement(1378)-g, adbSNP:148026506
complement(1419)-t, cdbSNP:190746040
complement(1446)-t, gdbSNP:71644021
complement(1484)-dbSNP:
complement(1484)-g, cdbSNP:149372969
complement(1526)-g, adbSNP:139065780
complement(1527)-t, cdbSNP:138546275
complement(1540)-dbSNP:
complement(1540)-g, adbSNP:17852748
complement(1554)-t, cdbSNP:150469816
complement(1611)-g, adbSNP:201672021
complement(1618)-t, cdbSNP:143517820
complement(1685)-g, cdbSNP:121918227
complement(1739)-dbSNP:
complement(1739)-t, cdbSNP:140278172
complement(1789)-t, cdbSNP:56351817
complement(1792)-c, adbSNP:61739752
complement(1809)-t, cdbSNP:200337290
complement(1879)-g, adbSNP:200868484
complement(1908)-t, gdbSNP:56186751
complement(1930)-dbSNP:
complement(1930)-t, cdbSNP:200184146
complement(1944)-t, gdbSNP:12564040
complement(1990)-t, g, cdbSNP:2076603
complement(1997)-c, adbSNP:188964068
complement(2018)-t, cdbSNP:200529993
complement(2100)-dbSNP:
complement(2100)-g, adbSNP:147260398
complement(2101)-t, cdbSNP:200916673
complement(2131)-g, adbSNP:201236895
complement(2195)-dbSNP:
complement(2195)-t, cdbSNP:143834546
complement(2218)-t, cdbSNP:143828547
complement(2268)-g, adbSNP:61734958
complement(2309)-dbSNP:
complement(2309)-g, cdbSNP:201038868
complement(2325)-t, cdbSNP:146698166
complement(2330)-g, adbSNP:17852747
complement(2335)-c, adbSNP:61999317
complement(2364)-g, adbSNP:142720276
complement(2365)-c, adbSNP:148275181
complement(2373)-g, adbSNP:201883464
complement(2409)-g, cdbSNP:140455242
complement(2411)-t, cdbSNP:147277743
complement(2435)-dbSNP:
complement(2435)-g, cdbSNP:139909551
complement(2438)-g, cdbSNP:200924194
complement(2459)-t, cdbSNP:55635527
complement(2484)-t, gdbSNP:77630788
complement(2500)-g, adbSNP:148374514
complement(2501)-g, c, adbSNP:56170027
complement(2506)-g, adbSNP:144708504
complement(2523)-t, cdbSNP:137955309
complement(2542)-g, adbSNP:140048110
complement(2554)-t, cdbSNP:182748624
complement(2556)-g, adbSNP:151222153
complement(2567)-t, gdbSNP:199655251
complement(2653)-dbSNP:
complement(2653)-g, adbSNP:147611385
complement(2731)-dbSNP:
complement(2731)-t, cdbSNP:55889979
complement(2768)-t, cdbSNP:148534162
complement(2792)-dbSNP:
complement(2792)-t, cdbSNP:200504984
complement(2794)-g, cdbSNP:199994961
complement(2804)-t, cdbSNP:144701072
complement(2812)-g, adbSNP:9435662
complement(2838)-g, adbSNP:190323680
complement(2860)-t, cdbSNP:138437271
complement(2884)-g, cdbSNP:145455452
complement(2899)-t, cdbSNP:79724242
complement(2917)-t, cdbSNP:146234171
complement(2965)-dbSNP:
complement(2965)-g, adbSNP:3738815
complement(2970)-t, cdbSNP:12129596
complement(3011)-t, adbSNP:55708915
complement(3033)-t, gdbSNP:148721722
complement(3034)-t, cdbSNP:144557304
complement(3057)-dbSNP:
complement(3057)-c, adbSNP:146381687
complement(3094)-t, cdbSNP:149403933
complement(3114)-t, cdbSNP:150748722
complement(3117)-g, adbSNP:148201608
complement(3127)-t, cdbSNP:138212767
complement(3145)-g, adbSNP:761421
complement(3147)-t, cdbSNP:145548316
complement(3153)-g, adbSNP:146559160
complement(3215)-t, cdbSNP:202166353
complement(3218)-t, cdbSNP:200537435
complement(3257)-g, adbSNP:139462252
complement(3262)-dbSNP:
complement(3262)-g, adbSNP:184878897
complement(3306)-t, cdbSNP:146884019
complement(3319)-g, cdbSNP:56126202
complement(3334)-g, cdbSNP:140394047
complement(3351)-t, gdbSNP:137853967
complement(3367)-g, adbSNP:9435659
complement(3382)-t, cdbSNP:137877665
complement(3428)-dbSNP:
complement(3428)-, cdbSNP:137853968
complement(3489)-g, adbSNP:201756175
complement(3497)-t, gdbSNP:34585239
complement(3502)-t, cdbSNP:112261486
complement(3507)-t, adbSNP:143126147
complement(3517)-g, adbSNP:115985012
complement(3518)-g, cdbSNP:145674970
complement(3605)-dbSNP:
complement(3605)-t, cdbSNP:151181674
complement(3628)-t, gdbSNP:199775291
complement(3647)-g, adbSNP:201610681
complement(3691)-g, adbSNP:3170740
complement(3731)-g, adbSNP:56004722
complement(3760)-t, cdbSNP:1064042
complement(3838)-t, adbSNP:41273151
complement(3842)-g, adbSNP:15786
complement(3848)-g, adbSNP:189334432
complement(3876)-g, adbSNP:185521359
complement(3949)-t, cdbSNP:76298930
Gene SymbolATP13A2
Gene SynonymCLN12; HSA9947; KRPPD; PARK9; RP1-37C10.4
Chromosome1
Locus Map1p36
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001141973 Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 2, mRNA. On-demand $1699.00 25
NM_001141974 Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 3, mRNA. On-demand $1699.00 25
NM_022089 Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. On-demand $1699.00 25
Title Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake .
Author De La Hera,D.P., Corradi,G.R., Adamo,H.P. and De Tezanos Pinto,F.
Journal Biochem. J. 450 (1), 47-53 (2013)
Title Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants .
Author Covy,J.P., Waxman,E.A. and Giasson,B.I.
Journal J. Neurosci. Res. 90 (12), 2306-2316 (2012)
Title Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts .
Author Kruer,M.C., Paudel,R., Wagoner,W., Sanford,L., Kara,E., Gregory,A., Foltynie,T., Lees,A., Bhatia,K., Hardy,J., Hayflick,S.J. and Houlden,H.
Journal Neurosci. Lett. 523 (1), 35-38 (2012)
Title Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration .
Author Dehay,B., Ramirez,A., Martinez-Vicente,M., Perier,C., Canron,M.H., Doudnikoff,E., Vital,A., Vila,M., Klein,C. and Bezard,E.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (24), 9611-9616 (2012)
Title Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism .
Author Podhajska,A., Musso,A., Trancikova,A., Stafa,K., Moser,R., Sonnay,S., Glauser,L. and Moore,D.J.
Journal PLoS ONE 7 (6), E39942 (2012)
Title PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype .
Author Ning,Y.P., Kanai,K., Tomiyama,H., Li,Y., Funayama,M., Yoshino,H., Sato,S., Asahina,M., Kuwabara,S., Takeda,A., Hattori,T., Mizuno,Y. and Hattori,N.
Journal Neurology 70 (16 PT 2), 1491-1493 (2008)
Title ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease .
Author Di Fonzo,A., Chien,H.F., Socal,M., Giraudo,S., Tassorelli,C., Iliceto,G., Fabbrini,G., Marconi,R., Fincati,E., Abbruzzese,G., Marini,P., Squitieri,F., Horstink,M.W., Montagna,P., Libera,A.D., Stocchi,F., Goldwurm,S., Ferreira,J.J., Meco,G., Martignoni,E., Lopiano,L., Jardim,L.B., Oostra,B.A., Barbosa,E.R. and Bonifati,V.
Journal Neurology 68 (19), 1557-1562 (2007)
Title Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase .
Author Ramirez,A., Heimbach,A., Grundemann,J., Stiller,B., Hampshire,D., Cid,L.P., Goebel,I., Mubaidin,A.F., Wriekat,A.L., Roeper,J., Al-Din,A., Hillmer,A.M., Karsak,M., Liss,B., Woods,C.G., Behrens,M.I. and Kubisch,C.
Journal Nat. Genet. 38 (10), 1184-1191 (2006)
Title Characterization of the P5 subfamily of P-type transport ATPases in mice .
Author Schultheis,P.J., Hagen,T.T., O'Toole,K.K., Tachibana,A., Burke,C.R., McGill,D.L., Okunade,G.W. and Shull,G.E.
Journal Biochem. Biophys. Res. Commun. 323 (3), 731-738 (2004)
Title Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 .
Author Hampshire,D.J., Roberts,E., Crow,Y., Bond,J., Mubaidin,A., Wriekat,A.L., Al-Din,A. and Woods,C.G.
Journal J. Med. Genet. 38 (10), 680-682 (2001)


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