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Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_173660.4, 257467678
Length 2583 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.
Product protein Dok-7 isoform 1
Comment

Summary: The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].


Transcript Variant: This variant (1) represents the longer and predominant variant, and encodes the longer isoform (1).

RefSeq NP_775931.3
CDS 71..1585
Misc Feature(1)62..64
Misc Feature(2)92..391
Misc Feature(3)92..391
Misc Feature(4)order(92..112,128..148,170..184,191..196,233..247,
Misc Feature(5)order(107..109,128..130,134..142)
Misc Feature(6)order(395..415,449..469,476..496,542..556,566..580,
Misc Feature(7)398..646
Exon (1)1..124
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (2)125..170
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (3)171..401
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (4)402..602
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (5)603..722
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (6)723..842
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (7)843..2566
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Translation MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLE DICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAP GTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAG VFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPR PAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSL DVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSP PSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP HAGPPPAFFSACPVCGGLKVNPPP
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Position Chain Variation Link
41+dbSNP:
41+g, tdbSNP:146168804
65+c, gdbSNP:191800156
169..170+dbSNP:
169..170+, adbSNP:34767819
204+dbSNP:
204+c, tdbSNP:62272670
213+c, tdbSNP:147359949
220+, cdbSNP:34654617
225+a, gdbSNP:201953114
231+a, gdbSNP:201818140
248+a, gdbSNP:199980106
290+c, tdbSNP:4325970
366+c, tdbSNP:138010842
367+a, gdbSNP:201351460
383+c, tdbSNP:115883468
393+c, tdbSNP:79740822
525+dbSNP:
525+a, gdbSNP:150376433
560+c, tdbSNP:142756576
609+dbSNP:
609+c, gdbSNP:118203994
610+c, tdbSNP:201892786
611+a, gdbSNP:146076204
631+c, tdbSNP:140026458
637+a, gdbSNP:141808910
643+c, gdbSNP:146277586
647+a, gdbSNP:139133047
658+c, tdbSNP:149940009
659+a, gdbSNP:16844422
666+g, tdbSNP:148650015
671+c, tdbSNP:118203995
699+c, tdbSNP:144307762
711+c, tdbSNP:147760280
735+dbSNP:
735+c, tdbSNP:141141719
738+a, gdbSNP:146895834
756+a, gdbSNP:151334056
758+c, tdbSNP:202077864
800+c, tdbSNP:140544446
818+c, tdbSNP:201325925
823+a, gdbSNP:59932476
831+c, tdbSNP:200407250
835+a, cdbSNP:138215484
851+dbSNP:
851+c, tdbSNP:142821143
852+a, gdbSNP:16844460
878+a, gdbSNP:138794794
879+a, cdbSNP:141979124
882+c, gdbSNP:144592743
886+c, gdbSNP:115614731
892+c, tdbSNP:141732576
901+c, tdbSNP:150549589
903+c, tdbSNP:3123331
906+a, gdbSNP:3135163
908+c, tdbSNP:139573161
909+a, gdbSNP:144269117
916+c, tdbSNP:141147662
917+a, gdbSNP:139429423
927+a, gdbSNP:145067203
937+c, gdbSNP:145862647
940+a, gdbSNP:149019681
950+a, gdbSNP:143821601
951+c, tdbSNP:151079259
957+a, gdbSNP:6811423
973+a, cdbSNP:145040126
974+c, gdbSNP:79063654
988+c, tdbSNP:141947707
989+a, gdbSNP:150415034
991+c, tdbSNP:138148221
1033+a, gdbSNP:112624739
1037+c, tdbSNP:150728781
1064+c, tdbSNP:200394790
1078+a, gdbSNP:185050737
1101+a, gdbSNP:189528618
1135+c, tdbSNP:200284964
1161+a, gdbSNP:201304841
1183+a, cdbSNP:6811856
1204+a, gdbSNP:6831659
1213+c, tdbSNP:56769879
1238+c, tdbSNP:149525610
1240+c, gdbSNP:199525739
1241+a, gdbSNP:144158112
1249+c, gdbSNP:138797230
1255+c, tdbSNP:6850908
1263+c, tdbSNP:201426254
1274+c, tdbSNP:149905649
1295+c, tdbSNP:199606134
1300+a, cdbSNP:200593935
1313+c, tdbSNP:16844464
1314+c, g, tdbSNP:142510199
1328+c, gdbSNP:150497723
1348+c, g, tdbSNP:139468087
1350+a, gdbSNP:2020433
1359+a, cdbSNP:150053125
1365+a, gdbSNP:145419117
1375+a, cdbSNP:201894731
1376+c, gdbSNP:201392182
1387+c, tdbSNP:16844467
1420+a, gdbSNP:80112594
1421+c, tdbSNP:16844470
1422+a, gdbSNP:200675356
1452+a, gdbSNP:9684786
1476+a, cdbSNP:147185207
1505+a, gdbSNP:140519765
1527+c, tdbSNP:200015934
1539+c, tdbSNP:77513082
1550+a, gdbSNP:202073484
1558+a, gdbSNP:80246418
1577+a, cdbSNP:184556570
1613+a, cdbSNP:147844706
1640+c, gdbSNP:11733064
1644+a, gdbSNP:190088769
1652+c, tdbSNP:73195198
1672..1678+, ggtgctcdbSNP:145037416
1731+c, tdbSNP:113699027
1732+a, gdbSNP:73793944
1740+a, gdbSNP:186419797
1773+c, gdbSNP:189300778
1803+a, c, g, tdbSNP:10022432
1812+a, gdbSNP:113865509
1830+a, cdbSNP:148915522
1834+c, tdbSNP:2858030
1850+a, gdbSNP:35748957
1899+a, gdbSNP:142267839
1909+, cdbSNP:35013574
1937+c, tdbSNP:180889406
2077+, cdbSNP:199630465
2083+g, tdbSNP:75522553
2083+, tdbSNP:34564851
2090+c, tdbSNP:113495398
2096+c, tdbSNP:115237552
2104+c, tdbSNP:62272677
2131+a, gdbSNP:151250727
2159..2160+, gdbSNP:201887908
2176+c, tdbSNP:140475379
2213+c, gdbSNP:11542616
2224+c, tdbSNP:200027105
2271+c, tdbSNP:61163173
2298+c, tdbSNP:1054661
2307+a, gdbSNP:2699414
2379+c, tdbSNP:112841601
2383+a, gdbSNP:184956838
2415+c, tdbSNP:2252054
2434+g, tdbSNP:190903828
2467+c, tdbSNP:10937930
2504+a, gdbSNP:138389951
2507+a, gdbSNP:1054662
2529..2532+, tgttdbSNP:146159989
2562+c, tdbSNP:2105849
Gene SymbolDOK7
Gene SynonymC4orf25; CMS1B
Chromosome4
Locus Map4p16.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001164673 Homo sapiens docking protein 7 (DOK7), transcript variant 2, mRNA. On-demand $449.00 14
NM_001256896 Homo sapiens docking protein 7 (DOK7), transcript variant 3, mRNA. On-demand TBD TBD
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. On-demand $699.00 18
Title DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker .
Author Heyn,H., Carmona,F.J., Gomez,A., Ferreira,H.J., Bell,J.T., Sayols,S., Ward,K., Stefansson,O.A., Moran,S., Sandoval,J., Eyfjord,J.E., Spector,T.D. and Esteller,M.
Journal Carcinogenesis 34 (1), 102-108 (2013)
Title DOK7 congenital myasthenic syndrome .
Author Palace,J.
Journal Ann. N. Y. Acad. Sci. 1275, 49-53 (2012)
Title The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome .
Author Cossins,J., Liu,W.W., Belaya,K., Maxwell,S., Oldridge,M., Lester,T., Robb,S. and Beeson,D.
Journal Hum. Mol. Genet. 21 (17), 3765-3775 (2012)
Title Congenital myasthenic syndrome: a brief review .
Author Lorenzoni,P.J., Scola,R.H., Kay,C.S. and Werneck,L.C.
Journal Pediatr. Neurol. 46 (3), 141-148 (2012)
Title The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization .
Author Bergamin,E., Hallock,P.T., Burden,S.J. and Hubbard,S.R.
Journal Mol. Cell 39 (1), 100-109 (2010)
Title Variable phenotypes associated with mutations in DOK7 .
Author Anderson,J.A., Ng,J.J., Bowe,C., McDonald,C., Richman,D.P., Wollmann,R.L. and Maselli,R.A.
Journal Muscle Nerve 37 (4), 448-456 (2008)
Title Clinical features of the DOK7 neuromuscular junction synaptopathy .
Author Palace,J., Lashley,D., Newsom-Davis,J., Cossins,J., Maxwell,S., Kennett,R., Jayawant,S., Yamanashi,Y. and Beeson,D.
Journal Brain 130 (PT 6), 1507-1515 (2007)
Title Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes .
Author Muller,J.S., Herczegfalvi,A., Vilchez,J.J., Colomer,J., Bachinski,L.L., Mihaylova,V., Santos,M., Schara,U., Deschauer,M., Shevell,M., Poulin,C., Dias,A., Soudo,A., Hietala,M., Aarimaa,T., Krahe,R., Karcagi,V., Huebner,A., Beeson,D., Abicht,A. and Lochmuller,H.
Journal Brain 130 (PT 6), 1497-1506 (2007)
Title Dok-7 mutations underlie a neuromuscular junction synaptopathy .
Author Beeson,D., Higuchi,O., Palace,J., Cossins,J., Spearman,H., Maxwell,S., Newsom-Davis,J., Burke,G., Fawcett,P., Motomura,M., Muller,J.S., Lochmuller,H., Slater,C., Vincent,A. and Yamanashi,Y.
Journal Science 313 (5795), 1975-1978 (2006)
Title The muscle protein Dok-7 is essential for neuromuscular synaptogenesis .
Author Okada,K., Inoue,A., Okada,M., Murata,Y., Kakuta,S., Jigami,T., Kubo,S., Shiraishi,H., Eguchi,K., Motomura,M., Akiyama,T., Iwakura,Y., Higuchi,O. and Yamanashi,Y.
Journal Science 312 (5781), 1802-1805 (2006)


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