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Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_001001933 Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA. ORF Sequence $310.59
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RefSeq Version NM_001001933.1, 50083286
Length 2393 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.
Product LIM/homeobox protein Lhx8 isoform 1
Comment

Summary: The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012].


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

RefSeq NP_001001933.1
CDS 665..1735
Misc Feature(1)656..658
Misc Feature(2)884..1051
Misc Feature(3)884..1051
Misc Feature(4)order(887..889,896..898,950..952,959..961,968..970,
Misc Feature(5)1070..1234
Misc Feature(6)order(1070..1072,1079..1081,1136..1138,1145..1147,
Misc Feature(7)1340..1513
Misc Feature(8)order(1340..1354,1358..1360,1409..1411,1427..1429,
Misc Feature(9)order(1346..1348,1355..1357,1475..1477,1484..1489,
Exon (1)1..175
Gene:LHX8
Gene Synonym:LHX7
Exon (2)176..682
Gene:LHX8
Gene Synonym:LHX7
Exon (3)683..769
Gene:LHX8
Gene Synonym:LHX7
Exon (4)770..931
Gene:LHX8
Gene Synonym:LHX7
Exon (5)932..1053
Gene:LHX8
Gene Synonym:LHX7
Exon (6)1054..1274
Gene:LHX8
Gene Synonym:LHX7
Exon (7)1275..1378
Gene:LHX8
Gene Synonym:LHX7
Exon (8)1379..1474
Gene:LHX8
Gene Synonym:LHX7
Exon (9)1475..1658
Gene:LHX8
Gene Synonym:LHX7
Exon (10)1659..2373
Gene:LHX8
Gene Synonym:LHX7
Translation MQILSRCQGLMSEECGRTTALAAGRTRKGAGEEGLVSPEGAGDEDSCSSSAPLSPSSSPR SMASGSGCPPGKCVCNSCGLEIVDKYLLKVNDLCWHVRCLSCSVCRTSLGRHTSCYIKDK DIFCKLDYFRRYGTRCSRCGRHIHSTDWVRRAKGNVYHLACFACFSCKRQLSTGEEFALV EEKVLCRVHYDCMLDNLKREVENGNGISVEGALLTEQDVNHPKPAKRARTSFTADQLQVM QAQFAQDNNPDAQTLQKLAERTGLSRRVIQVWFQNCRARHKKHVSPNHSSSTPVTAVPPS RLSPPMLEEMAYSAYVPQDGTMLTALHSYMDAHSPTTLGLQPLLPHSMTQLPISHT
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Position Chain Variation Link
36+dbSNP:
36+c, gdbSNP:41289228
71+a, tdbSNP:182226067
194+dbSNP:
194+a, cdbSNP:142466848
223+a, cdbSNP:192939997
241+g, tdbSNP:41289230
433+c, tdbSNP:111227275
595+a, gdbSNP:41289232
635+c, gdbSNP:200867886
646+c, tdbSNP:200115972
649+c, tdbSNP:191646269
653+c, gdbSNP:41289234
675+c, tdbSNP:202103118
695+dbSNP:
695+a, cdbSNP:116590034
744+g, tdbSNP:143612358
754+c, tdbSNP:140847718
786+dbSNP:
786+c, tdbSNP:141641179
814+c, gdbSNP:145195318
907+a, gdbSNP:149422695
1001+dbSNP:
1001+a, tdbSNP:199843823
1084+dbSNP:
1084+a, gdbSNP:148556375
1105+c, tdbSNP:12084309
1300+dbSNP:
1300+c, tdbSNP:147867930
1477+dbSNP:
1477+g, tdbSNP:79714503
1513+c, tdbSNP:941032
1521+c, gdbSNP:200810970
1559+a, cdbSNP:201945188
1564+c, tdbSNP:144728419
1627+a, gdbSNP:145367581
1638+c, tdbSNP:34889650
1769+dbSNP:
1769+a, tdbSNP:41306167
1784+c, tdbSNP:199821156
1786+a, gdbSNP:41301265
1833+a, gdbSNP:184821578
1930+g, tdbSNP:187614610
2045+a, tdbSNP:192190181
2099+a, gdbSNP:142785057
2152+c, tdbSNP:184182933
2213+a, gdbSNP:147403016
2299+a, gdbSNP:190197837
2311+a, gdbSNP:4949795
Gene SymbolLHX8
Gene SynonymLHX7
Chromosome1
Locus Map1p31.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001001933 Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA. Full Length $693.97
ORF Sequence $310.59
NM_001256114 Homo sapiens LIM homeobox 8 (LHX8), transcript variant 2, mRNA. Full Length $517.36
ORF Sequence $301.89
Title Oogenesis: transcriptional regulators and mouse models .
Author Jagarlamudi,K. and Rajkovic,A.
Journal Mol. Cell. Endocrinol. 356 (1-2), 31-39 (2012)
Title Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for Tourette syndrome .
Author Paschou,P., Stylianopoulou,E., Karagiannidis,I., Rizzo,R., Tarnok,Z., Wolanczyk,T., Hebebrand,J., Nothen,M.M., Lehmkuhl,G., Farkas,L., Nagy,P., Szymanska,U., Lykidis,D., Androutsos,C., Tsironi,V., Koumoula,A., Barta,C., Klidonas,S., Ypsilantis,P., Simopoulos,C., Skavdis,G. and Grigoriou,M.
Journal Genes Brain Behav. 11 (4), 444-451 (2012)
Title Pharmacological modulation of the Hedgehog pathway differentially affects dorsal/ventral patterning in mouse and human embryonic stem cell models of telencephalic development .
Author Nat,R., Salti,A., Suciu,L., Strom,S. and Dechant,G.
Journal Stem Cells Dev. 21 (7), 1016-1046 (2012)
Title Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate .
Author Nikopensius,T., Kempa,I., Ambrozaityte,L., Jagomagi,T., Saag,M., Matuleviciene,A., Utkus,A., Krjutskov,K., Tammekivi,V., Piekuse,L., Akota,I., Barkane,B., Krumina,A., Klovins,J., Lace,B., Kucinskas,V. and Metspalu,A.
Journal Birth Defects Res. Part A Clin. Mol. Teratol. 91 (4), 218-225 (2011)
Title Comparative study of LHX8 expression between odontoma and dental tissue-derived stem cells .
Author Kim,J.Y., Jeon,S.H., Park,J.Y., Suh,J.D. and Choung,P.H.
Journal J. Oral Pathol. Med. 40 (3), 250-256 (2011)
Title Analysis of LHX8 mutation in premature ovarian failure .
Author Qin,Y., Zhao,H., Kovanci,E., Simpson,J.L., Chen,Z.J. and Rajkovic,A.
Journal Fertil. Steril. 89 (4), 1012-1014 (2008)
Title Candidate genes for premature ovarian failure .
Author Suzumori,N., Pangas,S.A. and Rajkovic,A.
Journal Curr. Med. Chem. 14 (3), 353-357 (2007)
Title Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8 .
Author Pangas,S.A., Choi,Y., Ballow,D.J., Zhao,Y., Westphal,H., Matzuk,M.M. and Rajkovic,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 103 (21), 8090-8095 (2006)
Title Medical sequencing of candidate genes for nonsyndromic cleft lip and palate .
Author Vieira,A.R., Avila,J.R., Daack-Hirsch,S., Dragan,E., Felix,T.M., Rahimov,F., Harrington,J., Schultz,R.R., Watanabe,Y., Johnson,M., Fang,J., O'Brien,S.E., Orioli,I.M., Castilla,E.E., Fitzpatrick,D.R., Jiang,R., Marazita,M.L. and Murray,J.C.
Journal PLoS Genet. 1 (6), E64 (2005)
Title Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene lhx8 .
Author Zhao,Y., Guo,Y.J., Tomac,A.C., Taylor,N.R., Grinberg,A., Lee,E.J., Huang,S. and Westphal,H.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (26), 15002-15006 (1999)

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