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Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002296 Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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RefSeq Version NM_002296.3, 328447199
Length 3837 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.
Product lamin-B receptor
Comment

Summary: The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_002287.2
CDS 175..2022
Misc Feature(1)169..171
Misc Feature(2)169..171
Misc Feature(3)175..339
Misc Feature(4)175..339
Misc Feature(5)337..339
Misc Feature(6)385..387
Misc Feature(7)430..432
Misc Feature(8)463..465
Misc Feature(9)469..471
Misc Feature(10)469..471
Misc Feature(11)475..477
Misc Feature(12)526..528
Misc Feature(13)787..2019
Misc Feature(14)808..870
Misc Feature(15)946..1008
Misc Feature(16)1069..1131
Misc Feature(17)1150..1212
Misc Feature(18)1330..1392
Misc Feature(19)1513..1575
Misc Feature(20)1615..1677
Misc Feature(21)1855..1917
Misc Feature(22)1954..1956
Misc Feature(23)1975..1977
Exon (1)1..160
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (2)161..339
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (3)340..540
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (4)541..624
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (5)625..814
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (6)815..1011
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (7)1012..1066
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (8)1067..1258
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (9)1259..1362
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (10)1363..1488
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (11)1489..1657
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (12)1658..1738
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (13)1739..1861
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Exon (14)1862..3823
Gene:LBR
Gene Synonym:DHCR14B; LMN2R; PHA; TDRD18
Translation MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSF RQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPL ILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEI DSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVFLFLLLLMCKQKDPSL LNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPAS SGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPN EVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWW GFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE KYCQRVPYRIFPYIY
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Position Chain Variation Link
complement(8)-dbSNP:
complement(8)-g, adbSNP:12096558
complement(49)-g, adbSNP:186519008
complement(134)-t, cdbSNP:1056605
complement(195)-g, adbSNP:184378202
complement(217)-g, adbSNP:192681330
complement(223)-g, adbSNP:188150385
complement(264)-t, cdbSNP:2230416
complement(265)-t, cdbSNP:149920625
complement(271)-t, cdbSNP:200756121
complement(291)-g, adbSNP:1056607
complement(293)-t, cdbSNP:144210597
complement(410)-t, cdbSNP:150911670
complement(435)-t, cdbSNP:1056608
complement(445)-g, adbSNP:201003932
complement(457)-t, cdbSNP:11551873
complement(462)-t, cdbSNP:201694077
complement(480)-g, cdbSNP:199784853
complement(486)-g, adbSNP:146953852
complement(490)-t, cdbSNP:200648839
complement(527)-g, adbSNP:138380180
complement(530)-t, cdbSNP:137852605
complement(531)-t, cdbSNP:150177807
complement(545)-dbSNP:
complement(545)-t, gdbSNP:201699817
complement(555)-g, adbSNP:150998038
complement(603)-g, adbSNP:190140540
complement(635)-dbSNP:
complement(635)-g, adbSNP:2230419
complement(661)-g, cdbSNP:144270114
complement(679)-t, cdbSNP:2230420
complement(735)-g, adbSNP:151100686
complement(736)-t, cdbSNP:199796274
complement(749)-c, adbSNP:149760565
complement(754)-t, cdbSNP:139988587
complement(762)-g, cdbSNP:138462331
complement(773)-t, gdbSNP:200288588
complement(782)-t, cdbSNP:142747191
complement(830)-dbSNP:
complement(830)-t, cdbSNP:2230421
complement(833)-g, adbSNP:201056244
complement(917)-g, adbSNP:140008883
complement(920)-t, gdbSNP:200781118
complement(964)-g, adbSNP:140355742
complement(985)-g, adbSNP:34682825
complement(1017)-dbSNP:
complement(1017)-t, cdbSNP:61749339
complement(1023)-t, gdbSNP:199886849
complement(1034)-g, adbSNP:201093644
complement(1040)-t, cdbSNP:148541545
complement(1073)-dbSNP:
complement(1073)-g, adbSNP:2230422
complement(1075)-g, cdbSNP:1134839
complement(1101)-g, adbSNP:143164834
complement(1105)-g, adbSNP:2275601
complement(1122)-g, adbSNP:139528051
complement(1125)-t, cdbSNP:199748938
complement(1133)-t, cdbSNP:201654506
complement(1138)-t, cdbSNP:145104817
complement(1165)-g, cdbSNP:201609720
complement(1169)-g, adbSNP:141647564
complement(1213)-g, adbSNP:141837466
complement(1231)-g, adbSNP:138731836
complement(1244)-g, adbSNP:149077819
complement(1245)-t, cdbSNP:112582692
complement(1246)-g, adbSNP:145328578
complement(1256)-g, adbSNP:61731741
complement(1264)-dbSNP:
complement(1264)-t, cdbSNP:192884088
complement(1288)-g, adbSNP:200180113
complement(1328)-t, cdbSNP:199944519
complement(1332)-g, adbSNP:140194269
complement(1411)-dbSNP:
complement(1411)-g, adbSNP:144672633
complement(1413)-g, adbSNP:149483088
complement(1452)-g, cdbSNP:139059920
complement(1463)-t, cdbSNP:138769892
complement(1474)-c, adbSNP:141750416
complement(1498)-dbSNP:
complement(1498)-g, adbSNP:61749338
complement(1503)-g, cdbSNP:200550770
complement(1505)-t, gdbSNP:186333444
complement(1507)-t, cdbSNP:148033978
complement(1521)-g, adbSNP:147681505
complement(1524)-g, adbSNP:146355121
complement(1536)-g, adbSNP:141510343
complement(1573)-t, adbSNP:201212744
complement(1702)-dbSNP:
complement(1702)-t, cdbSNP:78828796
complement(1718)-g, adbSNP:138835126
complement(1732)-g, cdbSNP:201172537
complement(1783)-dbSNP:
complement(1783)-c, adbSNP:80299691
complement(1844)-g, adbSNP:202123513
complement(1845)-t, cdbSNP:151087316
complement(1855)-g, cdbSNP:192296368
complement(1880)-dbSNP:
complement(1880)-g, cdbSNP:137852606
complement(1882)-g, adbSNP:146204188
complement(1904)-g, adbSNP:143181005
complement(1930)-g, adbSNP:199675363
complement(1935)-g, adbSNP:149534786
complement(1936)-t, cdbSNP:138067182
complement(1976)-t, gdbSNP:141243190
complement(2038)-c, adbSNP:201103298
complement(2087)-t, cdbSNP:190693979
complement(2122..2123)-, cdbSNP:34846453
complement(2217)-t, cdbSNP:113990759
complement(2277)-g, cdbSNP:11551874
complement(2352)-c, adbSNP:16844841
complement(2678)-t, cdbSNP:80028106
complement(2743)-t, cdbSNP:115463653
complement(2791)-t, adbSNP:75904736
complement(2881)-g, cdbSNP:114577052
complement(2966)-t, cdbSNP:115448388
complement(2995)-t, cdbSNP:146434391
complement(3185)-t, cdbSNP:186699858
complement(3285)-t, cdbSNP:142324082
complement(3295)-g, cdbSNP:138408339
complement(3327)-g, cdbSNP:181244136
complement(3360)-g, adbSNP:11551875
complement(3383)-t, cdbSNP:14205
complement(3396)-t, cdbSNP:188426506
complement(3549)-g, adbSNP:185887146
complement(3554)-g, adbSNP:7406
complement(3572)-, adbSNP:71648230
complement(3608)-t, cdbSNP:181401210
complement(3654)-t, cdbSNP:148878615
complement(3672)-g, adbSNP:112847128
complement(3673..3674)-, gdbSNP:36104417
Gene SymbolLBR
Gene SynonymDHCR14B; LMN2R; PHA; TDRD18
Chromosome1
Locus Map1q42.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_002296 Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. In-stock $639.00 $590.00 15
NM_194442 Homo sapiens lamin B receptor (LBR), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
Title Lymphohematopoietic licence: sterol C-14 reductase activity of lamin B receptor (Lbr) is essential for neutrophil differentiation .
Author Kasbekar,D.P.
Journal J. Biosci. 37 (2), 199-201 (2012)
Title Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor .
Author Tseng,L.C. and Chen,R.H.
Journal Mol. Biol. Cell 22 (18), 3306-3317 (2011)
Title An in vitro model for Pelger-Huet anomaly: stable knockdown of lamin B receptor in HL-60 cells .
Author Olins,A.L., Ernst,A., Zwerger,M., Herrmann,H. and Olins,D.E.
Journal Nucleus 1 (6), 506-512 (2010)
Title Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein .
Author Clayton,P., Fischer,B., Mann,A., Mansour,S., Rossier,E., Veen,M., Lang,C., Baasanjav,S., Kieslich,M., Brossuleit,K., Gravemann,S., Schnipper,N., Karbasyian,M., Demuth,I., Zwerger,M., Vaya,A., Utermann,G., Mundlos,S., Stricker,S., Sperling,K. and Hoffmann,K.
Journal Nucleus 1 (4), 354-366 (2010)
Title Dosage effect of zero to three functional LBR-genes in vivo and in vitro .
Author Gravemann,S., Schnipper,N., Meyer,H., Vaya,A., Nowaczyk,M.J., Rajab,A., Hofmann,W.K., Salewsky,B., Tonnies,H., Neitzel,H., Stassen,H.H., Sperling,K. and Hoffmann,K.
Journal Nucleus 1 (2), 179-189 (2010)
Title Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1 .
Author Ye,Q. and Worman,H.J.
Journal J. Biol. Chem. 271 (25), 14653-14656 (1996)
Title Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane .
Author Schuler,E., Lin,F. and Worman,H.J.
Journal J. Biol. Chem. 269 (15), 11312-11317 (1994)
Title Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane .
Author Ye,Q. and Worman,H.J.
Journal J. Biol. Chem. 269 (15), 11306-11311 (1994)
Title The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal .
Author Soullam,B. and Worman,H.J.
Journal J. Cell Biol. 120 (5), 1093-1100 (1993)
Title A lamin B receptor in the nuclear envelope .
Author Worman,H.J., Yuan,J., Blobel,G. and Georgatos,S.D.
Journal Proc. Natl. Acad. Sci. U.S.A. 85 (22), 8531-8534 (1988)


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