• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26369 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu26369C Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_016156.5, 219842304
Length 1932 bp
Structure linear
Update Date 25-MAY-2014
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)425..427
Misc Feature(3)425..427
Misc Feature(4)470..901
Misc Feature(5)824..1846
Misc Feature(6)1241..1252
Misc Feature(7)1316..1321
Misc Feature(8)1502..1522
Misc Feature(9)2141..2143
Misc Feature(10)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
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(68)-dbSNP:
complement(68)-g, adbSNP:376878796
complement(73)-g, cdbSNP:376364240
complement(149)-g, cdbSNP:371920825
complement(164)-g, adbSNP:369560514
complement(196)-g, adbSNP:188381103
complement(219)-g, cdbSNP:115278720
complement(241)-g, adbSNP:376814622
complement(261)-t, gdbSNP:3824874
complement(269)-t, adbSNP:377006678
complement(307)-t, cdbSNP:372164252
complement(321)-t, cdbSNP:367549833
complement(335)-dbSNP:
complement(335)-t, cdbSNP:368041227
complement(341)-t, cdbSNP:148594474
complement(383)-t, cdbSNP:146004831
complement(384)-g, adbSNP:375382954
complement(392)-g, adbSNP:372095826
complement(400)-g, adbSNP:367839673
complement(407)-t, cdbSNP:149422901
complement(423)-t, adbSNP:137906078
complement(437..439)-, cctdbSNP:141498429
complement(483)-dbSNP:
complement(483)-g, adbSNP:377327553
complement(493)-t, gdbSNP:201920176
complement(522)-dbSNP:
complement(522)-t, adbSNP:147341114
complement(532)-g, adbSNP:372937811
complement(551)-t, cdbSNP:370701984
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
1079+dbSNP:
1079+g, tdbSNP:121434403
complement(1101)-t, cdbSNP:374629187
complement(1124)-t, cdbSNP:370955430
complement(1147)-t, adbSNP:200898934
complement(1237)-g, adbSNP:116691712
complement(1272)-dbSNP:
complement(1272)-t, gdbSNP:200384340
complement(1286)-t, cdbSNP:375607191
complement(1318)-g, adbSNP:373494051
complement(1339)-t, cdbSNP:199785032
complement(1359)-g, adbSNP:200083635
complement(1374)-g, adbSNP:114883605
1384+c, tdbSNP: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
1529+c, tdbSNP:121434402
complement(1530)-t, adbSNP:377452665
complement(1534)-t, gdbSNP:199542109
complement(1554)-g, adbSNP:374742138
complement(1570)-t, adbSNP:371349038
complement(1587)-g, adbSNP:141311831
complement(1589)-t, cdbSNP:146572467
complement(1606)-t, cdbSNP:114336434
complement(1639)-t, cdbSNP:139369561
complement(1648)-dbSNP:
complement(1648)-g, adbSNP:369925329
complement(1655)-g, cdbSNP:142460913
complement(1673)-t, cdbSNP:202119906
complement(1684)-t, cdbSNP:200285624
1697+c, tdbSNP:121434404
complement(1699)-t, cdbSNP:376166939
complement(1714)-g, adbSNP:372932127
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(1890)-t, cdbSNP:376530848
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(2104)-g, cdbSNP:369804894
complement(2108)-g, adbSNP:116750638
complement(2115)-g, cdbSNP:371925152
complement(2203)-c, adbSNP:377085326
complement(2230)-g, adbSNP:140864250
complement(2270)-c, adbSNP:578159
complement(2293)-t, cdbSNP:112159344
2297+a, cdbSNP:3200434
complement(2318)-g, cdbSNP:367677499
complement(2348)-t, cdbSNP:114078363
complement(2383)-t, cdbSNP:188555540
complement(2392)-t, cdbSNP:185702937
complement(2397)-t, gdbSNP:372852182
complement(2429)-g, adbSNP:181665205
2446+c, gdbSNP:3200439
2448+g, tdbSNP:3200440
2452+g, tdbSNP:3200441
complement(2474)-t, cdbSNP:189317232
complement(2599)-, adbSNP:112452328
complement(2641)-t, gdbSNP:185802671
2734+a, gdbSNP:611020
complement(2948)-g, adbSNP:372833115
complement(3010)-t, cdbSNP:192257681
complement(3117..3118)-, adbSNP:369118002
complement(3147)-g, adbSNP:368448944
complement(3171)-t, gdbSNP:375699537
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(3388)-c, adbSNP:368172620
complement(3409..3411)-, gaadbSNP:377404424
complement(3411..3413)-, aagdbSNP:142663762
complement(3411)-g, adbSNP:16922618
complement(3470)-t, adbSNP:191632441
complement(3516..3517)-, ttgtdbSNP:372325921
complement(3575)-t, adbSNP:187211111
complement(3581)-g, adbSNP:16922615
3604+a, gdbSNP:496305
complement(3629)-g, cdbSNP:149223349
3753+c, tdbSNP:596277
complement(3869)-t, gdbSNP:79576160
complement(3936)-t, gdbSNP:376347653
complement(4011)-t, gdbSNP:145394232
complement(4020)-c, adbSNP:192266760
complement(4027)-t, cdbSNP:71473256
4119+c, tdbSNP:525404
complement(4119)-g, adbSNP:386598099
complement(4137)-t, cdbSNP:118033833
complement(4140)-g, cdbSNP:376259899
complement(4154)-g, adbSNP:370095441
complement(4199)-c, adbSNP:112404010
complement(4221)-t, cdbSNP:368902640
complement(4240)-g, adbSNP:75679288
complement(4257)-t, cdbSNP:113055558
4372+c, tdbSNP:141738388
complement(4485)-g, cdbSNP:370012172
4518+c, tdbSNP:1135316
complement(4539)-t, cdbSNP:377268473
4570+a, tdbSNP: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_016156 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_201281 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 3, mRNA. On-demand $219.00 7-9
NM_201278 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001243571 Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 4, mRNA. On-demand $219.00 7-9
XM_006718933 PREDICTED: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant X3, mRNA. On-demand $219.00 7-9
XM_005274374 PREDICTED: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant X1, mRNA. On-demand $219.00 7-9
XM_006718934 PREDICTED: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant X4, mRNA. On-demand $219.00 7-9
XM_006718935 PREDICTED: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant X5, mRNA. On-demand $219.00 7-9
XM_006718936 PREDICTED: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant X6, mRNA. On-demand $219.00 7-9
XM_005274375 PREDICTED: Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant X2, mRNA. On-demand $219.00 7-9
Title A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' .
Author Luigetti,M., Bolino,A., Scarlino,S. and Sabatelli,M.
Journal J. Peripher. Nerv. Syst. 18 (2), 192-194 (2013)
Title Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes .
Author Franklin NE, Bonham CA, Xhabija B and Vacratsis PO.
Journal J. Cell. Sci. 126 (PT 6), 1333-1344 (2013)
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 JM 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 GS, Fujibayashi A, Sekiguchi K and Vacratsis PO.
Journal FEBS Lett. 585 (12), 1722-1728 (2011)
Title Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation .
Author Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M and Lupski JR.
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 FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M and Monaco AP.
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 JL.
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 LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A and Dahl N.
Journal Nat. Genet. 13 (2), 175-182 (1996)
Title Charcot-Marie-Tooth Neuropathy Type 4 .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Charcot-Marie-Tooth Hereditary Neuropathy Overview .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.