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Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_015967 Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_015967.5, 301171653
Length 3672 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.
Product tyrosine-protein phosphatase non-receptor type 22 isoform 1
Comment

Summary: This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_057051.3
CDS 131..2554
Misc Feature(1)80..82
Misc Feature(2)200..994
Misc Feature(3)200..994
Misc Feature(4)233..235
Misc Feature(5)296..994
Misc Feature(6)order(713..715,806..811,818..820,827..832)
Misc Feature(7)809..829
Exon (1)1..217
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (2)218..326
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (3)327..403
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (4)404..499
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (5)500..538
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (6)539..610
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (7)611..670
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (8)671..813
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (9)814..880
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (10)881..958
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (11)959..1045
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (12)1046..1122
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (13)1123..1940
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (14)1941..2024
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (15)2025..2155
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (16)2156..2183
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (17)2184..2264
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (18)2265..2380
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (19)2381..2411
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (20)2412..2489
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Exon (21)2490..3648
Gene:PTPN22
Gene Synonym:LYP; LYP1; LYP2; PEP; PTPN8
Translation MDQREILQKFLDEAQSKKITKEEFANEFLKLKRQSTKYKADKTYPTTVAEKPKNIKKNRY KDILPYDYSRVELSLITSDEDSSYINANFIKGVYGPKAYIATQGPLSTTLLDFWRMIWEY SVLIIVMACMEYEMGKKKCERYWAEPGEMQLEFGPFSVSCEAEKRKSDYIIRTLKVKFNS ETRTIYQFHYKNWPDHDVPSSIDPILELIWDVRCYQEDDSVPICIHCSAGCGRTGVICAI DYTWMLLKDGIIPENFSVFSLIREMRTQRPSLVQTQEQYELVYNAVLELFKRQMDVIRDK HSGTESQAKHCIPEKNHTLQADSYSPNLPKSTTKAAKMMNQQRTKMEIKESSSFDFRTSE ISAKEELVLHPAKSSTSFDFLELNYSFDKNADTTMKWQTKAFPIVGEPLQKHQSLDLGSL LFEGCSNSKPVNAAGRYFNSKVPITRTKSTPFELIQQRETKEVDSKENFSYLESQPHDSC FVEMQAQKVMHVSSAELNYSLPYDSKHQIRNASNVKHHDSSALGVYSYIPLVENPYFSSW PPSGTSSKMSLDLPEKQDGTVFPSSLLPTSSTSLFSYYNSHDSLSLNSPTNISSLLNQES AVLATAPRIDDEIPPPLPVRTPESFIVVEEAGEFSPNVPKSLSSAVKVKIGTSLEWGGTS EPKKFDDSVILRPSKSVKLRSPKSELHQDRSSPPPPLPERTLESFFLADEDCMQAQSIET YSTSYPDTMENSTSSKQTLKTPGKSFTRSKSLKILRNMKKSICNSCPPNKPAESVQSNNS SSFLNFGFANRFSKPKGPRNPPPTWNI
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Position Chain Variation Link
complement(52)-dbSNP:
complement(52)-, adbSNP:34778759
complement(127)-g, adbSNP:376492295
178+c, tdbSNP:74163639
complement(207)-t, cdbSNP:145473954
complement(223)-dbSNP:
complement(223)-t, cdbSNP:369424189
complement(238)-g, adbSNP:142247326
complement(243)-t, adbSNP:374232213
complement(277)-g, adbSNP:61745743
complement(295)-t, gdbSNP:369661097
complement(335)-dbSNP:
complement(335)-t, cdbSNP:202095629
342+c, tdbSNP:74163642
complement(344)-t, cdbSNP:140006258
complement(365)-t, cdbSNP:144833744
complement(449)-dbSNP:
complement(449)-g, adbSNP:374220084
complement(484)-t, cdbSNP:140976677
complement(510)-dbSNP:
complement(510)-g, adbSNP:371840002
complement(551)-dbSNP:
complement(551)-g, adbSNP:115552198
complement(572)-g, cdbSNP:371097605
complement(581)-g, cdbSNP:375906179
complement(592)-g, adbSNP:373794502
complement(600)-g, cdbSNP:143887079
complement(606)-g, adbSNP:370676330
complement(661)-dbSNP:
complement(661)-t, cdbSNP:147782665
complement(677)-dbSNP:
complement(677)-g, adbSNP:34590413
complement(678)-t, cdbSNP:201429780
complement(706)-g, adbSNP:199570322
732+c, tdbSNP:74163647
complement(747)-c, adbSNP:61738614
complement(780)-t, adbSNP:145405400
complement(788)-t, cdbSNP:138719022
complement(814)-dbSNP:
complement(814)-g, adbSNP:150163293
complement(825)-t, cdbSNP:374877682
complement(865)-t, cdbSNP:371652939
871+a, cdbSNP:35910094
complement(917)-dbSNP:
complement(917)-g, adbSNP:143665827
complement(918)-t, cdbSNP:33996649
926+c, tdbSNP:72650670
959+dbSNP:
959+a, g, tdbSNP:72483511
complement(988)-t, cdbSNP:145370775
complement(1043)-t, cdbSNP:201446752
complement(1056)-dbSNP:
complement(1056)-t, cdbSNP:371442374
complement(1060)-g, adbSNP:139421935
complement(1102)-g, adbSNP:113984534
complement(1107)-g, adbSNP:141632902
complement(1122)-c, adbSNP:146211793
complement(1123)-dbSNP:
complement(1123)-g, adbSNP:200561611
complement(1162)-t, cdbSNP:372824432
complement(1166)-t, cdbSNP:369345357
complement(1170)-, tdbSNP:371865329
complement(1208)-t, cdbSNP:141677022
1228+a, gdbSNP:74163654
1238+a, cdbSNP:72650671
complement(1266)-t, cdbSNP:138092829
complement(1294)-t, gdbSNP:77913785
complement(1368)-t, gdbSNP:183934235
complement(1372)-g, adbSNP:189765484
complement(1386)-t, gdbSNP:375132611
complement(1408..1409)-, attdbSNP:112873647
complement(1429)-t, cdbSNP:375345942
1460+a, tdbSNP:74163655
complement(1467)-t, cdbSNP:267597928
complement(1470)-g, adbSNP:112191110
complement(1486)-g, adbSNP:56174946
1496+c, gdbSNP:72650672
complement(1513)-g, cdbSNP:146517005
complement(1541)-t, adbSNP:200292847
1561+c, tdbSNP:74163656
complement(1573)-g, adbSNP:145866511
complement(1574)-t, cdbSNP:139083120
complement(1603)-g, adbSNP:141608148
complement(1638)-t, cdbSNP:371916399
complement(1659)-t, cdbSNP:202143877
complement(1660)-g, adbSNP:368537394
complement(1661)-t, cdbSNP:182625064
complement(1683)-t, cdbSNP:150552386
1713+a, gdbSNP:74163657
complement(1732)-g, adbSNP:200125610
complement(1748)-g, adbSNP:142902754
complement(1757)-t, cdbSNP:114092230
complement(1761)-c, adbSNP:370156443
complement(1812)-t, adbSNP:375746217
complement(1831)-t, cdbSNP:190093444
1852+c, tdbSNP:74163658
1857+c, gdbSNP:74163659
complement(1872)-t, cdbSNP:200849500
complement(1899)-t, gdbSNP:375000199
complement(1911)-g, adbSNP:61757796
complement(1915)-t, gdbSNP:187131457
complement(1946)-dbSNP:
complement(1946)-c, adbSNP:138223016
complement(1988)-g, adbSNP:2476601
complement(1989)-t, cdbSNP:201811041
1995+c, gdbSNP:74163660
complement(2009)-t, cdbSNP:368086285
complement(2051)-dbSNP:
complement(2051)-g, adbSNP:146655207
complement(2079)-g, adbSNP:199887236
2080+c, g, tdbSNP:74163661
complement(2101)-t, adbSNP:149915690
complement(2156)-dbSNP:
complement(2156)-t, cdbSNP:202071561
complement(2169)-t, cdbSNP:74111772
complement(2190)-dbSNP:
complement(2190)-t, adbSNP:142861258
complement(2198)-g, adbSNP:200154470
complement(2205)-g, cdbSNP:183145687
complement(2211)-g, adbSNP:147233796
complement(2257)-t, adbSNP:143703692
complement(2285)-dbSNP:
complement(2285)-t, cdbSNP:370982954
2287+a, gdbSNP:74163662
complement(2299)-g, adbSNP:376996202
complement(2306)-t, gdbSNP:372867806
complement(2350)-t, cdbSNP:138878045
2372+a, gdbSNP:74163663
2380+c, gdbSNP:56048322
complement(2382)-dbSNP:
complement(2382)-t, cdbSNP:140698521
complement(2393)-g, adbSNP:148434451
complement(2402)-t, cdbSNP:369890270
complement(2407)-t, cdbSNP:200631139
complement(2429)-dbSNP:
complement(2429)-g, adbSNP:201084590
complement(2463)-t, adbSNP:41313296
complement(2501)-dbSNP:
complement(2501)-g, adbSNP:368366403
complement(2725)-t, cdbSNP:376643550
complement(2870)-g, adbSNP:1217412
complement(2932)-g, adbSNP:144047083
complement(2992)-t, adbSNP:34910038
complement(3140..3141)-, gdbSNP:34857282
complement(3373)-t, gdbSNP:958007
complement(3389)-c, adbSNP:191907300
3418+c, tdbSNP:3811021
complement(3498)-t, cdbSNP:958008
complement(3581)-g, adbSNP:188708951
complement(3584..3586)-, atadbSNP:142713635
complement(3597)-t, adbSNP:184558983
Gene SymbolPTPN22
Gene SynonymLYP; LYP1; LYP2; PEP; PTPN8
Chromosome1
Locus Map1p13.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_012411 Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 2, mRNA. On-demand $849.00 20
NM_001193431 Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 3, mRNA. On-demand $899.00 20
NM_015967 Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. On-demand $899.00 20
XM_005270738 PREDICTED: Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant X1, mRNA. On-demand $899.00 20
Title Contribution of PTPN22, CD28, CTLA-4 and ZAP-70 variants to the risk of type 1 diabetes in Tunisians .
Author Zouidi F, Stayoussef M, Bouzid D, Fourati H, Abida O, Ayed MB, Kammoun T, Hachicha M, Penha-Goncalves C and Masmoudi H.
Journal Gene 533 (1), 420-426 (2014)
Title Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study .
Author Orozco G, Viatte S, Bowes J, Martin P, Wilson AG, Morgan AW, Steer S, Wordsworth P, Hocking LJ, Barton A, Worthington J and Eyre S.
Journal Arthritis Rheumatol 66 (1), 24-30 (2014)
Title Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis .
Author Serrano A, Marquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, Hernandez-Rodriguez J, Cid MC, Castaneda S, Morado IC, Narvaez J, Blanco R, Sopena B, Garcia-Villanueva MJ, Monfort J, Ortego-Centeno N, Unzurrunzaga A, Mari-Alfonso B, Sanchez-Martin J, de Miguel E, Magro C, Raya E, Braun N, Latus J, Molberg O, Lie BA, Moosig F, Witte T, Morgan AW, Gonzalez-Gay MA and Martin J.
Journal Ann. Rheum. Dis. 72 (11), 1882-1886 (2013)
Title Meta-analysis of the correlation between PTPN22 gene polymorphisms and susceptibility to systemic lupus erythematosus .
Author Shi L, Wei Y, Xun W and Han D.
Journal Asia Pac J Public Health 25 (4 SUPPL), 22S-29S (2013)
Title Expression and clinical significance of protein tyrosine phosphatase nonreceptor 22 in resected thymoma .
Author Zheng K, Zhang J, Guo Y and Zhang P.
Journal Clin. Lab. 59 (9-10), 1041-1044 (2013)
Title Characterization of a myeloid tyrosine phosphatase, Lyp, and its role in the Bcr-Abl signal transduction pathway .
Author Chien W, Tidow N, Williamson EA, Shih LY, Krug U, Kettenbach A, Fermin AC, Roifman CM and Koeffler HP.
Journal J. Biol. Chem. 278 (30), 27413-27420 (2003)
Title The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation .
Author Hill RJ, Zozulya S, Lu YL, Ward K, Gishizky M and Jallal B.
Journal Exp. Hematol. 30 (3), 237-244 (2002)
Title Subcellular localization of intracellular protein tyrosine phosphatases in T cells .
Author Gjorloff-Wingren A, Saxena M, Han S, Wang X, Alonso A, Renedo M, Oh P, Williams S, Schnitzer J and Mustelin T.
Journal Eur. J. Immunol. 30 (8), 2412-2421 (2000)
Title Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp .
Author Cohen S, Dadi H, Shaoul E, Sharfe N and Roifman CM.
Journal Blood 93 (6), 2013-2024 (1999)
Title Characterization of hematopoietic intracellular protein tyrosine phosphatases: description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences .
Author Matthews RJ, Bowne DB, Flores E and Thomas ML.
Journal Mol. Cell. Biol. 12 (5), 2396-2405 (1992)

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