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


RefSeq Accession Definition Services Price Order
NM_000268 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA. ORF Sequence $518.52
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000268.3, 163644284
Length 6046 bp
Structure linear
Update Date 17-APR-2013
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..1367
Misc Feature(7)order(1101..1124,1131..1154,1158..1178,1215..1220,
Misc Feature(8)order(1224..1226,1230..1235,1239..1247,1269..1271,
Misc Feature(9)1323..1325
Misc Feature(10)1527..2228
Misc Feature(11)1995..1997
Misc Feature(12)1995..1997
Misc Feature(13)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
342+c, gdbSNP:1042230
405+c, gdbSNP:3181682
426+a, gdbSNP:201591536
455+c, tdbSNP:144477078
491+a, gdbSNP:137894613
612+dbSNP:
612+c, tdbSNP:121434259
628+c, tdbSNP:121434261
675+a, gdbSNP:17851784
699+dbSNP:
699+a, gdbSNP:142380707
717+a, gdbSNP:145935225
729..731+, ttcdbSNP:121434260
739+a, gdbSNP:181794923
768+c, tdbSNP:201603384
811+dbSNP:
811+a, gdbSNP:139779327
902+c, tdbSNP:142972020
921+c, tdbSNP:150667239
947+a, gdbSNP:182990439
986+dbSNP:
986+a, gdbSNP:139838280
987+g, tdbSNP:74315495
1019+c, tdbSNP:149803133
1030+a, gdbSNP:147896582
1056+dbSNP:
1056+a, gdbSNP:141629512
1126+dbSNP:
1126+a, gdbSNP:145384260
1181+c, tdbSNP:147665163
1227+c, tdbSNP:74315496
1241+c, tdbSNP:149124569
1304+c, tdbSNP:143160499
1322+c, tdbSNP:151198477
1325+a, gdbSNP:146166875
1346+dbSNP:
1346+c, tdbSNP:199957176
1355+c, tdbSNP:200272173
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
1716+c, tdbSNP:142446775
1724+a, gdbSNP:113715304
1754+a, gdbSNP:144628209
1829+dbSNP:
1829+c, tdbSNP:138354622
1830+a, g, tdbSNP:74315503
1835+a, gdbSNP:144371317
1839+c, tdbSNP:74315504
1859+c, tdbSNP:148776784
1882+c, tdbSNP:145666157
1894+c, tdbSNP:141538143
1902+a, gdbSNP:147506929
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
2196+a, gdbSNP:145446060
2235+a, gdbSNP:141099051
2254+a, cdbSNP:200740197
2363+a, cdbSNP:3180505
2585+c, tdbSNP:1008515
2734+c, tdbSNP:191509325
2862+c, tdbSNP:201571578
2951+a, gdbSNP:184043147
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
3787+c, tdbSNP:76245756
3849+c, tdbSNP:184477204
3871+a, cdbSNP: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
4252..4253+, tdbSNP:34620337
4254..4255+, tdbSNP:11442202
4284+c, tdbSNP:193146795
4308+c, tdbSNP:144993615
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
5302+a, gdbSNP:145080771
5309+g, tdbSNP:117601743
5432+c, tdbSNP:185621751
5439+a, gdbSNP:117863523
5505+c, tdbSNP:11090576
5544+a, tdbSNP:188812769
5657+a, tdbSNP:11537543
5806+a, gdbSNP:41278851
Gene SymbolNF2
Gene SynonymACN; BANF; SCH
Chromosome22
Locus Map22q12.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000268 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA. Full Length $2720.70
ORF Sequence $518.52
NM_016418 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 2, mRNA. Full Length $2740.95
ORF Sequence $514.17
NM_181825 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 12, mRNA. Full Length $1094.10
ORF Sequence $514.17
NM_181828 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 5, mRNA. Full Length $2684.25
ORF Sequence $477.63
NM_181829 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 6, mRNA. Full Length $2685.60
ORF Sequence $478.50
NM_181830 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 7, mRNA. Full Length $2628.90
ORF Sequence $441.96
NM_181831 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 13, mRNA. Full Length $642.93
ORF Sequence $441.96
NM_181832 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 8, mRNA. Full Length $2747.70
ORF Sequence $514.17
NM_181833 Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 9, mRNA. Full Length $1664.60
ORF Sequence $159.00
Title Loss of SOX10 function contributes to the phenotype of human Merlin-null schwannoma cells .
Author Doddrell,R.D., Dun,X.P., Shivane,A., Feltri,M.L., Wrabetz,L., Wegner,M., Sock,E., Hanemann,C.O. and Parkinson,D.B.
Journal Brain 136 (PT 2), 549-563 (2013)
Title Merlin/ERM proteins establish cortical asymmetry and centrosome position .
Author Hebert,A.M., DuBoff,B., Casaletto,J.B., Gladden,A.B. and McClatchey,A.I.
Journal Genes Dev. 26 (24), 2709-2723 (2012)
Title Heterozygous loss of NF2 is an early molecular alteration in well-differentiated papillary mesothelioma of the peritoneum .
Author Nemoto,H., Tate,G., Kishimoto,K., Saito,M., Shirahata,A., Umemoto,T., Matsubara,T., Goto,T., Mizukami,H., Kigawa,G., Mitsuya,T. and Hibi,K.
Journal Cancer Genet 205 (11), 594-598 (2012)
Title Frequency of loss of heterozygosity of the NF2 gene in schwannomas from Croatian patients .
Author Pecina-Slaus,N., Zeljko,M., Pecina,H.I., Nikuseva Martic,T., Bacic,N., Tomas,D. and Hrascan,R.
Journal Croat. Med. J. 53 (4), 321-327 (2012)
Title Merlin/NF2 regulates angiogenesis in schwannomas through a Rac1/semaphorin 3F-dependent mechanism .
Author Wong,H.K., Shimizu,A., Kirkpatrick,N.D., Garkavtsev,I., Chan,A.W., di Tomaso,E., Klagsbrun,M. and Jain,R.K.
Journal Neoplasia 14 (2), 84-94 (2012)
Title Neurofibromatosis type 2 protein co-localizes with elements of the cytoskeleton .
Author den Bakker,M.A., Tascilar,M., Riegman,P.H., Hekman,A.C., Boersma,W., Janssen,P.J., de Jong,T.A., Hendriks,W., van der Kwast,T.H. and Zwarthoff,E.C.
Journal Am. J. Pathol. 147 (5), 1339-1349 (1995)
Title Diagnostic issues in a family with late onset type 2 neurofibromatosis .
Author Evans,D.G., Bourn,D., Wallace,A., Ramsden,R.T., Mitchell,J.D. and Strachan,T.
Journal J. Med. Genet. 32 (6), 470-474 (1995)
Title Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas .
Author Papi,L., De Vitis,L.R., Vitelli,F., Ammannati,F., Mennonna,P., Montali,E. and Bigozzi,U.
Journal Hum. Genet. 95 (3), 347-351 (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 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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