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Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16401 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu16401C Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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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_000268.3, 163644284
Length 1788 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.
Product merlin isoform 1
Comment

Summary: This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008].


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


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

RefSeq NP_000259.1
CDS 444..2231
Misc Feature(1)357..359
Misc Feature(2)510..1109
Misc Feature(3)510..1109
Misc Feature(4)519..749
Misc Feature(5)768..1109
Misc Feature(6)1089..1379
Misc Feature(7)order(1215..1220,1224..1244,1269..1271,1332..1334,
Misc Feature(8)order(1215..1217,1224..1247,1269..1271,1332..1334,
Misc Feature(9)order(1323..1325,1335..1337)
Misc Feature(10)1332..1379
Misc Feature(11)<1404..2066
Misc Feature(12)1482..2228
Misc Feature(13)1995..1997
Misc Feature(14)1995..1997
Misc Feature(15)1995..1997
Exon (1)1..557
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (2)558..683
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (3)684..806
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (4)807..890
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (5)891..959
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (6)960..1042
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (7)1043..1118
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (8)1119..1253
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (9)1254..1328
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (10)1329..1442
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (11)1443..1565
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (12)1566..1783
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (13)1784..1889
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (14)1890..2017
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (15)2018..2180
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Exon (16)2181..6029
Gene:NF2
Gene Synonym:ACN; BANF; SCH
Translation MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETW FFGLQYTIKDTVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFL QVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMT PEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLC IGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRL LQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTE EEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLN ELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL
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Position Chain Variation Link
198+dbSNP:
198+c, gdbSNP:56733822
240+a, cdbSNP:1800539
334+c, gdbSNP:1800540
341+c, gdbSNP:1042230
396+a, cdbSNP:368022063
405+c, gdbSNP:3181682
426+a, gdbSNP:201591536
455+c, tdbSNP:144477078
479+c, tdbSNP:371800843
537+a, gdbSNP:373337083
550+a, gdbSNP:372279458
576+dbSNP:
576+g, tdbSNP:370147621
612+c, tdbSNP:121434259
613+a, gdbSNP:368773485
628+c, tdbSNP:121434261
629+c, tdbSNP:373178836
675+a, gdbSNP:17851784
689+dbSNP:
689+a, gdbSNP:371270318
695+c, tdbSNP:374512699
698+c, tdbSNP:375802248
699+a, gdbSNP:142380707
717+a, gdbSNP:145935225
729..731+, ttcdbSNP:121434260
739+a, gdbSNP:181794923
768+c, tdbSNP:201603384
790+a, gdbSNP:371373672
811+dbSNP:
811+a, gdbSNP:139779327
902+c, tdbSNP:142972020
908+c, tdbSNP:374911526
921+c, tdbSNP:150667239
947+a, gdbSNP:182990439
986+dbSNP:
986+a, gdbSNP:139838280
987+g, tdbSNP:74315495
1019+c, tdbSNP:149803133
1023+g, tdbSNP:374494685
1056+dbSNP:
1056+a, gdbSNP:141629512
1094+c, tdbSNP:367802186
1126+dbSNP:
1126+a, gdbSNP:145384260
1181+c, tdbSNP:147665163
1227+c, tdbSNP:74315496
1238+a, gdbSNP:376609988
1304+c, tdbSNP:143160499
1322+c, tdbSNP:151198477
1325+a, gdbSNP:146166875
1346+dbSNP:
1346+c, tdbSNP:199957176
1355+c, tdbSNP:200272173
1391+g, tdbSNP:373606097
1401+c, tdbSNP:74315497
1413+c, tdbSNP:74315500
1426+a, tdbSNP:200372028
1449+dbSNP:
1449+c, tdbSNP:140266312
1464+c, tdbSNP:74315499
1475+c, gdbSNP:2229064
1499+a, gdbSNP:145427713
1522+c, tdbSNP:74315492
1527+c, tdbSNP:74315498
1556+c, tdbSNP:142459414
1649+c, tdbSNP:137953976
1662+c, tdbSNP:74315501
1675+a, gdbSNP:201214090
1700+c, gdbSNP:375969005
1716+c, tdbSNP:142446775
1724+a, gdbSNP:113715304
1754+a, gdbSNP:144628209
1828+dbSNP:
1828+a, gdbSNP:373650983
1829+c, tdbSNP:138354622
1830+a, g, tdbSNP:74315503
1835+a, gdbSNP:375819833
1839+c, tdbSNP:74315504
1859+c, tdbSNP:148776784
1882+c, tdbSNP:145666157
1894+c, tdbSNP:141538143
1898+c, tdbSNP:368966931
1902+a, gdbSNP:147506929
1913+g, tdbSNP:373442542
1975+a, tdbSNP:140025001
1983+a, gdbSNP:201527155
2022+dbSNP:
2022+g, tdbSNP:74315505
2047+c, tdbSNP:74315493
2056+a, cdbSNP:74315494
2082+a, gdbSNP:199669486
2192+dbSNP:
2192+a, gdbSNP:201911915
2195+c, tdbSNP:370999558
2196+a, gdbSNP:145446060
2235+a, gdbSNP:141099051
2254+a, cdbSNP:200740197
2275+c, tdbSNP:374219104
2276+a, gdbSNP:377393360
2283+a, cdbSNP:370016332
2363+a, cdbSNP:3180505
2567+a, gdbSNP:373511643
2585+c, tdbSNP:1008515
2734+c, tdbSNP:191509325
2862+c, tdbSNP:201571578
2951+a, gdbSNP:184043147
3025+a, gdbSNP:374557247
3063+a, gdbSNP:186559222
3107+c, tdbSNP:149840456
3165+c, gdbSNP:145820299
3205+c, tdbSNP:8140096
3318+c, tdbSNP:148973148
3348+c, tdbSNP:191183183
3371+g, tdbSNP:145719271
3399+a, gdbSNP:5763428
3439+c, tdbSNP:2530680
3548..3553+, gtgggadbSNP:148703036
3669+a, gdbSNP:376061969
3787+c, tdbSNP:76245756
3849+c, tdbSNP:184477204
complement(3871)-c, adbSNP:138312881
3921+a, gdbSNP:12106585
4023+a, gdbSNP:17462054
4054+c, tdbSNP:190590507
4125+a, gdbSNP:141268194
4135+a, gdbSNP:73390944
4249..4253+, ttctgdbSNP:200967076
4253..4254+, tdbSNP:11442202
4263..4264+, tdbSNP:397939715
4284+c, tdbSNP:193146795
4308+c, tdbSNP:144993615
4371+a, gdbSNP:371637488
4455+a, gdbSNP:112175950
4466+a, gdbSNP:5997506
4518+c, tdbSNP:77461085
4521+c, tdbSNP:78535993
4529+a, tdbSNP:76646957
4542+a, gdbSNP:113956497
4600+c, tdbSNP:150581809
4639+a, gdbSNP:114416141
4686+c, tdbSNP:73159090
4695+a, gdbSNP:185127651
4699+c, gdbSNP:1034880
4838+c, tdbSNP:138606078
4984+a, gdbSNP:199805259
4990+a, gdbSNP:5763430
4996+, tdbSNP:113760386
5011+g, tdbSNP:77381275
5035+a, gdbSNP:189146105
5072+c, tdbSNP:142797364
5081+c, tdbSNP:75293087
5091+a, tdbSNP:76134776
5107+c, tdbSNP:5763431
5115+c, tdbSNP:181171324
5153+a, gdbSNP:112930471
5154+c, tdbSNP:111641882
5188+c, tdbSNP:74528592
5201+a, gdbSNP:185938514
5204+a, gdbSNP:190002811
5212+c, tdbSNP:182522654
complement(5302)-g, adbSNP:145080771
5309+g, tdbSNP:117601743
5432+c, tdbSNP:185621751
5439+a, gdbSNP:117863523
complement(5505)-t, cdbSNP:11090576
5510+c, tdbSNP:369250167
5544+a, tdbSNP:188812769
5549+, gdbSNP:372162228
5657+a, tdbSNP:11537543
5806+a, gdbSNP:41278851
5844..5845+, adbSNP:375908855
5875+c, tdbSNP:372862060
Gene SymbolNF2
Gene SynonymACN; BANF; SCH
Chromosome22
Locus Map22q12.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_181829 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 6, mRNA. On-demand $219.00 7-9
NM_181833 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 9, mRNA. On-demand $159.00 7-9
NM_181825 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 12, mRNA. On-demand $219.00 7-9
NM_181832 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 8, mRNA. On-demand $219.00 7-9
NM_181828 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 5, mRNA. On-demand $219.00 7-9
NM_181830 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 7, mRNA. In-stock $99.00 5-7
NM_181831 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 13, mRNA. In-stock $99.00 5-7
NM_000268 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_016418 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 2, mRNA. On-demand $219.00 7-9
Title Neuronal merlin influences ERBB2 receptor expression on Schwann cells through neuregulin 1 type III signalling .
Author Schulz A, Kyselyova A, Baader SL, Jung MJ, Zoch A, Mautner VF, Hagel C and Morrison H.
Journal Brain 137 (PT 2), 420-432 (2014)
Title Hearing and facial function outcomes for neurofibromatosis 2 clinical trials .
Author Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA and Halpin C.
Journal Neurology 81 (21 SUPPL 1), S25-S32 (2013)
Title NF2 genetic alterations in sporadic vestibular schwannomas: clinical implications .
Author Lassaletta L, Torres-Martin M, Pena-Granero C, Roda JM, Santa-Cruz-Ruiz S, Castresana JS, Gavilan J and Rey JA.
Journal Otol. Neurotol. 34 (7), 1355-1361 (2013)
Title Merlin, the NF2 gene product .
Author Pecina-Slaus N.
Journal Pathol. Oncol. Res. 19 (3), 365-373 (2013)
Title Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas .
Author Tabernero M, Jara-Acevedo M, Nieto AB, Caballero AR, Otero A, Sousa P, Goncalves J, Domingues PH and Orfao A.
Journal BMC Med. Genet. 14, 114 (2013)
Title Neurofibromatosis type 2 protein co-localizes with elements of the cytoskeleton .
Author den Bakker MA, Tascilar M, Riegman PH, Hekman AC, Boersma W, Janssen PJ, de Jong TA, Hendriks W, van der Kwast TH and Zwarthoff EC.
Journal Am. J. Pathol. 147 (5), 1339-1349 (1995)
Title Diagnostic issues in a family with late onset type 2 neurofibromatosis .
Author Evans DG, Bourn D, Wallace A, Ramsden RT, Mitchell JD and Strachan T.
Journal J. Med. Genet. 32 (6), 470-474 (1995)
Title Neurofibromatosis 2 and neurilemmomatosis gene are identical .
Author Honda M, Arai E, Sawada S, Ohta A and Niimura M.
Journal J. Invest. Dermatol. 104 (1), 74-77 (1995)
Title Neurofibromatosis 2 .
Author Evans,D.G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2 .
Author Arai E, Ikeuchi T, Karasawa S, Tamura A, Yamamoto K, Kida M, Ichimura K, Yuasa Y and Tonomura A.
Journal Am. J. Med. Genet. 44 (2), 163-167 (1992)

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