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Homo sapiens parkin RBR E3 ubiquitin protein ligase (PARK2), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_013987 Homo sapiens parkin RBR E3 ubiquitin protein ligase (PARK2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_013987.2, 169790970
Length 3989 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens parkin RBR E3 ubiquitin protein ligase (PARK2), transcript variant 2, mRNA.
Product E3 ubiquitin-protein ligase parkin isoform 2
Comment

Summary: The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008].


Transcript Variant: Transcript variant 2 lacks exons 5 which is present in the full-length variant 1.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_054642.2
CDS 135..1448
Misc Feature(1)6..8
Misc Feature(2)6..8
Misc Feature(3)141..350
Misc Feature(4)141..350
Misc Feature(5)258..260
Misc Feature(6)987..1175
Misc Feature(7)<1284..1409
Exon (1)1..141
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (2)142..305
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (3)306..546
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (4)547..668
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (5)669..784
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (6)785..921
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (7)922..983
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (8)984..1133
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (9)1134..1217
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (10)1218..1335
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (11)1336..3989
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Translation MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQNCD LDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSLTRVDLSSSVLPGDSVGLA VILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPGKLRVQCSTCRQATLTLTQEF FFKCGAHPTSDKETSVALHLIATNSRNITCITCTDVRSPVLVFQCNSRHVICLDCFHLYC VTRLNDRQFVHDPQLGYSLPCVAGCPNSLIKELHHFRILGEEQYNRYQQYGAEECVLQMG GVLCPRPGCGAGLLPEPDQRKVTCEGGNGLGCGFAFCRECKEAYHEGECSAVFEASGTTT QAYRVDERAAEQARWEAASKETIKKTTKPCPRCHVPVEKNGGCMHMKCPQPQCRLEWCWN CGCEWNRVCMGDHWFDV
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Position Chain Variation Link
70+c, tdbSNP:112155221
complement(89)-g, adbSNP:369389244
93+c, tdbSNP:112850281
complement(96)-g, cdbSNP:371617209
complement(97)-g, adbSNP:368314176
complement(105)-g, adbSNP:200065081
complement(118)-g, adbSNP:200039995
complement(159)-dbSNP:
complement(159)-g, adbSNP:111356273
complement(181)-t, gdbSNP:199841689
complement(182)-t, cdbSNP:143477190
complement(185)-g, adbSNP:148302761
complement(186)-t, cdbSNP:146288080
complement(202)-g, adbSNP:199859147
complement(217)-t, cdbSNP:200805156
complement(232)-t, cdbSNP:147757966
235..236+, agdbSNP:55777503
complement(235)-t, cdbSNP:148851677
complement(244)-g, adbSNP:148990138
complement(245)-t, cdbSNP:77795533
complement(259)-t, cdbSNP:368134308
complement(270)-t, cdbSNP:75860381
complement(281)-t, cdbSNP:199762783
complement(300)-t, cdbSNP:145942836
301+a, tdbSNP:137853059
complement(325)-dbSNP:
complement(325)-t, gdbSNP:373204115
complement(353)-t, cdbSNP:139083077
complement(362)-t, cdbSNP:370161857
complement(381)-t, cdbSNP:141825163
complement(410)-t, cdbSNP:200256562
complement(420)-t, cdbSNP:377591051
complement(423)-g, adbSNP:373593750
complement(424)-t, cdbSNP:369634041
complement(471)-t, gdbSNP:148252233
complement(487)-g, cdbSNP:144001694
complement(489)-t, gdbSNP:376992611
complement(514)-t, cdbSNP:373443322
complement(517)-t, cdbSNP:200239028
complement(537)-t, cdbSNP:201052724
complement(569)-dbSNP:
complement(569)-g, cdbSNP:371890659
complement(574)-t, adbSNP:149379304
592+c, gdbSNP:55654276
complement(606)-t, gdbSNP:367631227
complement(611)-t, cdbSNP:146547001
617+a, tdbSNP:137853057
complement(628)-t, adbSNP:374988995
634+a, gdbSNP:1801474
complement(656)-g, adbSNP:147121590
complement(662)-c, adbSNP:371512669
complement(665)-t, gdbSNP:140590552
683+dbSNP:
683+a, tdbSNP:137853060
685+a, gdbSNP:137853058
complement(723)-c, adbSNP:202212928
complement(750)-g, adbSNP:373822092
complement(751)-t, cdbSNP:144032774
complement(764)-g, adbSNP:114974496
769+c, g, tdbSNP:137853054
complement(777)-t, cdbSNP:146173584
complement(791)-dbSNP:
complement(791)-g, adbSNP:149749354
complement(811)-t, cdbSNP:139600787
complement(816)-g, adbSNP:150562946
complement(833)-t, cdbSNP:9456711
complement(843)-g, adbSNP:148453342
complement(849)-g, adbSNP:114696251
complement(851)-g, adbSNP:199790441
complement(853)-t, cdbSNP:200720727
complement(854)-t, adbSNP:377554392
complement(864)-t, gdbSNP:141366047
complement(866)-g, adbSNP:143902760
complement(868)-t, cdbSNP:373750972
complement(886)-t, cdbSNP:147028059
complement(887)-g, adbSNP:149433924
888+a, gdbSNP:72480422
898+c, tdbSNP:56154308
915+g, tdbSNP:55961220
complement(969)-dbSNP:
complement(969)-g, adbSNP:138920699
980+c, gdbSNP:72480423
981+c, tdbSNP:137853055
complement(1007)-dbSNP:
complement(1007)-g, adbSNP:144340740
complement(1030)-g, adbSNP:141061596
complement(1050)-g, adbSNP:199657839
complement(1111)-t, cdbSNP:146599326
complement(1126)-t, cdbSNP:201300874
complement(1162)-dbSNP:
complement(1162)-g, adbSNP:375036403
complement(1174)-t, cdbSNP:370271614
1188+c, gdbSNP:1801582
complement(1244)-dbSNP:
complement(1244)-g, adbSNP:372141916
1254+c, tdbSNP:55830907
complement(1301)-g, adbSNP:189941210
complement(1308)-g, adbSNP:145135117
1339+dbSNP:
1339+a, gdbSNP:191486604
1342+g, tdbSNP:397514694
complement(1360)-g, adbSNP:149953814
1408+a, gdbSNP:137853056
complement(1422)-t, g, cdbSNP:182893847
1450+a, cdbSNP:112022904
complement(1456)-t, cdbSNP:368253350
1463+a, cdbSNP:35125035
complement(1464)-t, cdbSNP:61730194
complement(1497)-t, cdbSNP:200940812
complement(1542)-t, cdbSNP:62637702
complement(1554..1555)-, gcdbSNP:369334516
complement(1768)-c, adbSNP:71653628
1976+a, tdbSNP:112757570
complement(1986..1989)-, taaadbSNP:375770586
complement(2056)-t, cdbSNP:188421588
complement(2100)-t, cdbSNP:71653629
complement(2268)-t, adbSNP:74701717
2334..2337+, agatdbSNP:113233227
complement(2657..2658)-, adbSNP:200695402
complement(2700)-g, adbSNP:77926621
complement(2744)-t, cdbSNP:3734464
complement(2795)-t, cdbSNP:182568156
complement(2805)-t, gdbSNP:191142442
2813+c, tdbSNP:143810946
complement(2834)-t, cdbSNP:140107485
complement(2855)-g, adbSNP:11961237
complement(2910)-t, gdbSNP:11961229
complement(2910)-, gdbSNP:371797205
complement(3129)-g, adbSNP:41268559
complement(3133)-t, cdbSNP:187134044
complement(3142)-g, adbSNP:16892481
complement(3143)-t, cdbSNP:77283740
complement(3197)-t, cdbSNP:182252890
complement(3253)-g, adbSNP:369401074
complement(3266)-t, cdbSNP:114587790
complement(3357)-t, cdbSNP:148426411
complement(3389..3397)-, ctgtgtgctdbSNP:376011629
3405+a, gdbSNP:144460207
complement(3445)-t, cdbSNP:75529362
complement(3469)-t, cdbSNP:1122470
complement(3635)-g, adbSNP:116309008
complement(3642)-t, cdbSNP:149239597
complement(3665)-t, cdbSNP:138660139
complement(3735..3736)-, cggdbSNP:200780698
complement(3736..3737)-, gdbSNP:35851380
complement(3802)-g, adbSNP:191130749
complement(3811)-g, adbSNP:12215447
complement(3838)-c, adbSNP:185919757
complement(3840)-t, cdbSNP:200119552
complement(3878)-t, gdbSNP:12215397
complement(3899)-t, cdbSNP:371405899
complement(3928)-t, gdbSNP:68121389
complement(3940)-t, cdbSNP:117341007
complement(3965)-g, adbSNP:147210030
complement(3966)-t, cdbSNP:16892479
complement(3974..3975)-, tgdbSNP:371752739
Gene SymbolPARK2
Gene SynonymAR-JP; LPRS2; PDJ; PRKN
Chromosome6
Locus Map6q25.2-q27
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004562 Homo sapiens parkin RBR E3 ubiquitin protein ligase (PARK2), transcript variant 1, mRNA. On-demand $699.00 18
NM_013988 Homo sapiens parkin RBR E3 ubiquitin protein ligase (PARK2), transcript variant 3, mRNA. On-demand $549.00 14
NM_013987 Homo sapiens parkin RBR E3 ubiquitin protein ligase (PARK2), transcript variant 2, mRNA. On-demand $699.00 18
Title Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control .
Author McLelland GL, Soubannier V, Chen CX, McBride HM and Fon EA.
Journal EMBO J. 33 (4), 282-295 (2014)
Title Long-term overexpression of human wild-type and T240R mutant Parkin in rat substantia nigra induces progressive dopaminergic neurodegeneration .
Author Van Rompuy AS, Lobbestael E, Van der Perren A, Van den Haute C and Baekelandt V.
Journal J. Neuropathol. Exp. Neurol. 73 (2), 159-174 (2014)
Title Isolated RING2 domain of parkin is sufficient for E2-dependent E3 ligase activity .
Author Rankin CA, Galeva NA, Bae K, Ahmad MN, Witte TM and Richter ML.
Journal Biochemistry 53 (1), 225-234 (2014)
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism .
Author Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y and Shimizu N.
Journal Nature 392 (6676), 605-608 (1998)
Title Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27 .
Author Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schaffer AA, Yamamura Y, Nakamura S, Kuzuhara S, Tsuji S and Mizuno Y.
Journal Am. J. Hum. Genet. 60 (3), 588-596 (1997)
Title [Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)] .
Author Saito M, Matsumine H, Tanaka H, Ishikawa A, Matsubayashi S, Hattori Y, Mizuno Y and Tsuji S.
Journal Nippon Rinsho 55 (1), 83-88 (1997)
Title Parkin Type of Early-Onset Parkinson Disease .
Author Bruggemann,N. and Klein,C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Parkinson Disease Overview .
Author Farlow,J., Pankratz,N.D., Wojcieszek,J. and Foroud,T.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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