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Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_016156 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_016156.5, 219842304
Length 4603 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.
Product myotubularin-related protein 2 isoform 1
Comment

Summary: This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_057240.3
CDS 254..2185
Misc Feature(1)155..157
Misc Feature(2)155..157
Misc Feature(3)425..427
Misc Feature(4)425..427
Misc Feature(5)485..670
Misc Feature(6)953..1306
Misc Feature(7)1241..1252
Misc Feature(8)1316..1321
Misc Feature(9)1484..1648
Misc Feature(10)1502..1522
Misc Feature(11)2141..2143
Misc Feature(12)2144..2146
Exon (1)1..333
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (2)334..439
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (3)440..515
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (4)516..610
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (5)611..721
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (6)722..823
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (7)824..907
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (8)908..1057
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (9)1058..1246
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (10)1247..1432
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (11)1433..1639
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (12)1640..1732
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (13)1733..1846
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (14)1847..2023
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Exon (15)2024..4595
Gene:MTMR2
Gene Synonym:CMT4B; CMT4B1
Translation MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPD LRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERD PPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLM KYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTY PALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDE KYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMR ESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDG WDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVF LQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSL WSYINSQLEDFTNPLYGSYSNHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKEL LAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQTVV
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Position Chain Variation Link
complement(196)-g, adbSNP:188381103
complement(219)-g, cdbSNP:115278720
complement(261)-t, gdbSNP:3824874
complement(341)-dbSNP:
complement(341)-t, cdbSNP:148594474
complement(383)-t, cdbSNP:146004831
complement(385)-, adbSNP:5793753
complement(407)-t, cdbSNP:149422901
complement(423)-t, adbSNP:137906078
complement(437..439)-, cctdbSNP:141498429
complement(493)-dbSNP:
complement(493)-t, gdbSNP:201920176
complement(522)-dbSNP:
complement(522)-t, adbSNP:147341114
complement(557)-g, adbSNP:115506357
complement(562)-t, adbSNP:114274243
complement(608)-g, c, adbSNP:142774695
complement(615)-dbSNP:
complement(615)-t, gdbSNP:115150701
complement(723)-dbSNP:
complement(723)-t, gdbSNP:138722981
complement(775)-g, adbSNP:146014892
complement(800)-c, adbSNP:142155860
complement(857)-dbSNP:
complement(857)-g, cdbSNP:186380748
complement(883)-t, gdbSNP:199736817
complement(937)-dbSNP:
complement(937)-t, cdbSNP:116484470
complement(940)-t, cdbSNP:148025345
complement(957)-t, cdbSNP:113346250
complement(1079)-dbSNP:
complement(1079)-t, gdbSNP:121434403
complement(1147)-t, adbSNP:200898934
complement(1237)-g, adbSNP:116691712
complement(1272)-dbSNP:
complement(1272)-t, gdbSNP:200384340
complement(1339)-t, cdbSNP:199785032
complement(1359)-g, adbSNP:200083635
complement(1374)-g, adbSNP:114883605
complement(1384)-t, cdbSNP:566204
complement(1423)-t, cdbSNP:199736240
complement(1436)-dbSNP:
complement(1436)-t, adbSNP:148890896
complement(1443)-g, cdbSNP:145714734
complement(1486)-t, g, cdbSNP:113897932
complement(1489)-g, adbSNP:200313472
complement(1529)-t, cdbSNP:121434402
complement(1534)-t, gdbSNP:199542109
complement(1587)-g, adbSNP:141311831
complement(1589)-t, cdbSNP:146572467
complement(1606)-t, cdbSNP:114336434
complement(1639)-t, cdbSNP:139369561
complement(1655)-dbSNP:
complement(1655)-g, cdbSNP:142460913
complement(1673)-t, cdbSNP:202119906
complement(1684)-t, cdbSNP:200285624
complement(1697)-t, cdbSNP:121434404
complement(1741)-dbSNP:
complement(1741)-g, adbSNP:112327353
complement(1755)-t, cdbSNP:200892517
complement(1757)-g, cdbSNP:61735578
complement(1871)-dbSNP:
complement(1871)-g, adbSNP:142687077
complement(1887)-g, adbSNP:558018
complement(1920)-t, cdbSNP:147170889
complement(1947)-t, adbSNP:200717440
complement(1954)-t, cdbSNP:138626568
complement(1994)-t, cdbSNP:149476960
complement(2008)-t, adbSNP:138036650
complement(2009)-t, gdbSNP:61735577
complement(2010)-t, cdbSNP:61735576
complement(2058)-dbSNP:
complement(2058)-g, cdbSNP:76784113
complement(2063)-t, gdbSNP:138746296
complement(2108)-g, adbSNP:116750638
complement(2230)-g, adbSNP:140864250
complement(2270)-c, adbSNP:578159
complement(2293)-t, cdbSNP:112159344
complement(2297)-c, adbSNP:3200434
complement(2348)-t, cdbSNP:114078363
complement(2383)-t, cdbSNP:188555540
complement(2392)-t, cdbSNP:185702937
complement(2429)-g, adbSNP:181665205
complement(2446)-g, cdbSNP:3200439
complement(2448)-t, gdbSNP:3200440
complement(2452)-t, gdbSNP:3200441
complement(2474)-t, cdbSNP:189317232
complement(2600)-, adbSNP:112452328
complement(2641)-t, gdbSNP:185802671
complement(2734)-g, adbSNP:611020
complement(3010)-t, cdbSNP:192257681
complement(3172)-g, adbSNP:57807625
complement(3251)-g, adbSNP:16922622
complement(3274)-g, cdbSNP:147982779
complement(3275)-c, adbSNP:143432500
complement(3286)-g, adbSNP:189320026
complement(3297)-t, cdbSNP:184446705
complement(3411..3413)-, aagdbSNP:142663762
complement(3411)-g, adbSNP:16922618
complement(3411)-, gaadbSNP:61615128
complement(3470)-t, adbSNP:191632441
complement(3575)-t, adbSNP:187211111
complement(3581)-g, adbSNP:16922615
complement(3604)-g, adbSNP:496305
complement(3629)-g, cdbSNP:149223349
complement(3753)-t, cdbSNP:596277
complement(3869)-t, gdbSNP:79576160
complement(4011)-t, gdbSNP:145394232
complement(4020)-c, adbSNP:192266760
complement(4027)-t, cdbSNP:71473256
complement(4119)-t, cdbSNP:525404
complement(4137)-t, cdbSNP:118033833
complement(4199)-c, adbSNP:112404010
complement(4240)-g, adbSNP:75679288
complement(4257)-t, cdbSNP:113055558
complement(4372)-t, cdbSNP:141738388
complement(4518)-t, cdbSNP:1135316
complement(4570)-t, adbSNP:526432
complement(4591)-g, adbSNP:16922613
Gene SymbolMTMR2
Gene SynonymCMT4B; CMT4B1
Chromosome11
Locus Map11q22
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001243571 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 4, mRNA. On-demand $849.00 20
NM_016156 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA. On-demand $849.00 20
NM_201278 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 2, mRNA. On-demand $849.00 20
NM_201281 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 3, mRNA. On-demand $849.00 20
Title Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes .
Author Nouioua,S., Hamadouche,T., Funalot,B., Bernard,R., Bellatache,N., Bouderba,R., Grid,D., Assami,S., Benhassine,T., Levy,N., Vallat,J.M. and Tazir,M.
Journal Neuromuscul. Disord. 21 (8), 543-550 (2011)
Title Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2 .
Author Xhabija,B., Taylor,G.S., Fujibayashi,A., Sekiguchi,K. and Vacratsis,P.O.
Journal FEBS Lett. 585 (12), 1722-1728 (2011)
Title Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site .
Author Franklin,N.E., Taylor,G.S. and Vacratsis,P.O.
Journal J. Biol. Chem. 286 (18), 15841-15853 (2011)
Title [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.] .
Author Zhang,R.X., Guo,P., Ren,Z.J., Zhao,G.H., Liu,S.M., Liu,T., Zi,X.H., Hu,Z.M., Xia,K. and Tang,B.S.
Journal Yi Chuan 32 (8), 817-823 (2010)
Title The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic .
Author Lee,H.W., Kim,Y., Han,K., Kim,H. and Kim,E.
Journal J. Neurosci. 30 (16), 5508-5518 (2010)
Title Functional redundancy in the myotubularin family .
Author Laporte,J., Liaubet,L., Blondeau,F., Tronchere,H., Mandel,J.L. and Payrastre,B.
Journal Biochem. Biophys. Res. Commun. 291 (2), 305-312 (2002)
Title Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation .
Author Boerkoel,C.F., Takashima,H., Garcia,C.A., Olney,R.K., Johnson,J., Berry,K., Russo,P., Kennedy,S., Teebi,A.S., Scavina,M., Williams,L.L., Mancias,P., Butler,I.J., Krajewski,K., Shy,M. and Lupski,J.R.
Journal Ann. Neurol. 51 (2), 190-201 (2002)
Title Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 .
Author Bolino,A., Muglia,M., Conforti,F.L., LeGuern,E., Salih,M.A., Georgiou,D.M., Christodoulou,K., Hausmanowa-Petrusewicz,I., Mandich,P., Schenone,A., Gambardella,A., Bono,F., Quattrone,A., Devoto,M. and Monaco,A.P.
Journal Nat. Genet. 25 (1), 17-19 (2000)
Title Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human .
Author Laporte,J., Blondeau,F., Buj-Bello,A., Tentler,D., Kretz,C., Dahl,N. and Mandel,J.L.
Journal Hum. Mol. Genet. 7 (11), 1703-1712 (1998)
Title A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast .
Author Laporte,J., Hu,L.J., Kretz,C., Mandel,J.L., Kioschis,P., Coy,J.F., Klauck,S.M., Poustka,A. and Dahl,N.
Journal Nat. Genet. 13 (2), 175-182 (1996)


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