2025-05-09 19:14:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256114 1784 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens LIM homeobox 8 (LHX8), transcript variant 2, mRNA. ACCESSION NM_001256114 VERSION NM_001256114.1 GI:368711325 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1784) AUTHORS Jagarlamudi,K. and Rajkovic,A. TITLE Oogenesis: transcriptional regulators and mouse models JOURNAL Mol. Cell. Endocrinol. 356 (1-2), 31-39 (2012) PUBMED 21856374 REMARK Review article REFERENCE 2 (bases 1 to 1784) AUTHORS Paschou P, Stylianopoulou E, Karagiannidis I, Rizzo R, Tarnok Z, Wolanczyk T, Hebebrand J, Nothen MM, 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. CONSRTM TSGeneSEE Consortium TITLE Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for Tourette syndrome JOURNAL Genes Brain Behav. 11 (4), 444-451 (2012) PUBMED 22435649 REMARK GeneRIF: Our tagging-single nucleotide polymorphism (tSNP)-based association analysis was negative for Tourette syndrome association with LHX8. REFERENCE 3 (bases 1 to 1784) AUTHORS Nat,R., Salti,A., Suciu,L., Strom,S. and Dechant,G. TITLE Pharmacological modulation of the Hedgehog pathway differentially affects dorsal/ventral patterning in mouse and human embryonic stem cell models of telencephalic development JOURNAL Stem Cells Dev. 21 (7), 1016-1046 (2012) PUBMED 22204396 REFERENCE 4 (bases 1 to 1784) AUTHORS 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. TITLE Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate JOURNAL Birth Defects Res. Part A Clin. Mol. Teratol. 91 (4), 218-225 (2011) PUBMED 21462296 REFERENCE 5 (bases 1 to 1784) AUTHORS Kim,J.Y., Jeon,S.H., Park,J.Y., Suh,J.D. and Choung,P.H. TITLE Comparative study of LHX8 expression between odontoma and dental tissue-derived stem cells JOURNAL J. Oral Pathol. Med. 40 (3), 250-256 (2011) PUBMED 21143530 REMARK GeneRIF: LHX8 might play an important role in odontoma formation. This is 1st report on comparison of LHX8 expression between human odontoma-derived mesenchymal cells and normal adult dental mesenchymal stem cells and its overexpression in human samples. REFERENCE 6 (bases 1 to 1784) AUTHORS Qin,Y., Zhao,H., Kovanci,E., Simpson,J.L., Chen,Z.J. and Rajkovic,A. TITLE Analysis of LHX8 mutation in premature ovarian failure JOURNAL Fertil. Steril. 89 (4), 1012-1014 (2008) PUBMED 17624344 REMARK GeneRIF: Mutations in the LHX8 exons are uncommon in Caucasian women with premature ovarian failure. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 1784) AUTHORS Suzumori,N., Pangas,S.A. and Rajkovic,A. TITLE Candidate genes for premature ovarian failure JOURNAL Curr. Med. Chem. 14 (3), 353-357 (2007) PUBMED 17305537 REMARK Review article REFERENCE 8 (bases 1 to 1784) AUTHORS Pangas,S.A., Choi,Y., Ballow,D.J., Zhao,Y., Westphal,H., Matzuk,M.M. and Rajkovic,A. TITLE Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (21), 8090-8095 (2006) PUBMED 16690745 REMARK GeneRIF: Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis REFERENCE 9 (bases 1 to 1784) AUTHORS 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. TITLE Medical sequencing of candidate genes for nonsyndromic cleft lip and palate JOURNAL PLoS Genet. 1 (6), E64 (2005) PUBMED 16327884 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 10 (bases 1 to 1784) AUTHORS Zhao,Y., Guo,Y.J., Tomac,A.C., Taylor,N.R., Grinberg,A., Lee,E.J., Huang,S. and Westphal,H. TITLE Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene lhx8 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (26), 15002-15006 (1999) PUBMED 10611327 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC036423.1, AC099786.2 and BC040321.1. 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 (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC036423.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-161 BC036423.1 7-167 162-229 AC099786.2 145902-145969 230-344 BC036423.1 234-348 345-345 AC099786.2 149808-149808 346-510 BC036423.1 350-514 511-511 AC099786.2 151985-151985 512-1395 BC036423.1 516-1399 1396-1784 BC040321.1 2005-2393 FEATURES Location/Qualifiers source 1..1784 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p31.1" gene 1..1784 /gene="LHX8" /gene_synonym="LHX7" /note="LIM homeobox 8" /db_xref="GeneID:431707" /db_xref="HGNC:28838" /db_xref="MIM:604425" exon 1..73 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" exon 74..160 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" CDS 86..1126 /gene="LHX8" /gene_synonym="LHX7" /note="isoform 2 is encoded by transcript variant 2; LIM-homeodomain protein Lhx8; LIM/homeobox protein Lhx8" /codon_start=1 /product="LIM/homeobox protein Lhx8 isoform 2" /protein_id="NP_001243043.1" /db_xref="GI:368711326" /db_xref="CCDS:CCDS58008.1" /db_xref="GeneID:431707" /db_xref="HGNC:28838" /db_xref="MIM:604425" /translation="
MSEECGRTTALAAGRTRKGAGEEGLVSPEGAGDEDSCSSSAPLSPSSSPRSMASGSGCPPGKCVCNSCGLEIVDKYLLKVNDLCWHVRCLSCSVCRTSLGRHTSCYIKDKDIFCKLDYFRRYGTRCSRCGRHIHSTDWVRRAKGNVYHLACFACFSCKRQLSTGEEFALVEEKVLCRVHYDCMLDNLKREVENGNGISVEGALLTEQDVNHPKPAKRARTSFTADQLQVMQAQFAQDNNPDAQTLQKLAERTGLSRRVIQVWFQNCRARHKKHVSPNHSSSTPVTAVPPSRLSPPMLEEMAYSAYVPQDGTMLTALHSYMDAHSPTTLGLQPLLPHSMTQLPISHT
" misc_feature 275..442 /gene="LHX8" /gene_synonym="LHX7" /note="The first LIM domain of Lhx7 and Lhx8; Region: LIM1_Lhx7_Lhx8; cd09381" /db_xref="CDD:188767" misc_feature order(278..280,287..289,341..343,350..352,359..361, 368..370,425..427,434..436) /gene="LHX8" /gene_synonym="LHX7" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188767" misc_feature 461..625 /gene="LHX8" /gene_synonym="LHX7" /note="The second LIM domain of Lhx7 and Lhx8; Region: LIM2_Lhx7_Lhx8; cd09383" /db_xref="CDD:188769" misc_feature order(461..463,470..472,527..529,536..538,545..547, 554..556,611..613,620..622) /gene="LHX8" /gene_synonym="LHX7" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188769" misc_feature 731..904 /gene="LHX8" /gene_synonym="LHX7" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(731..745,749..751,800..802,818..820,857..859, 863..868,875..880,884..892,896..901) /gene="LHX8" /gene_synonym="LHX7" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(737..739,746..748,866..868,875..880,887..889) /gene="LHX8" /gene_synonym="LHX7" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 86 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="c" /db_xref="dbSNP:116590034" variation 104 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:376772505" variation 135 /gene="LHX8" /gene_synonym="LHX7" /replace="g" /replace="t" /db_xref="dbSNP:143612358" variation 145 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:140847718" variation 156 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:369761078" exon 161..322 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" variation 166 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:369347146" variation 177 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:141641179" variation 183 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:373338242" variation 202 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:371247581" variation 205 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="g" /db_xref="dbSNP:145195318" variation 208 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:371111953" variation 233 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="g" /db_xref="dbSNP:376300206" variation 298 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:149422695" exon 323..444 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" variation 327 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="t" /db_xref="dbSNP:373880349" variation 392 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="t" /db_xref="dbSNP:199843823" exon 445..665 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" variation 459 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:367958622" variation 475 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:148556375" variation 481 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:376834338" variation 491 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:371719492" variation 496 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:12084309" variation 499 /gene="LHX8" /gene_synonym="LHX7" /replace="g" /replace="t" /db_xref="dbSNP:374741343" variation 655 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:372110957" exon 666..769 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" variation 667 /gene="LHX8" /gene_synonym="LHX7" /replace="g" /replace="t" /db_xref="dbSNP:376728766" variation 691 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:147867930" exon 770..865 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" exon 866..1049 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" variation 868 /gene="LHX8" /gene_synonym="LHX7" /replace="g" /replace="t" /db_xref="dbSNP:79714503" variation 904 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:941032" variation 912 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="g" /db_xref="dbSNP:200810970" variation 950 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="c" /db_xref="dbSNP:201945188" variation 955 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:144728419" variation 958 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="g" /db_xref="dbSNP:375095039" variation 982 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="t" /db_xref="dbSNP:368509617" variation 1000 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:370428970" variation 1001 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:374046822" variation 1018 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:145367581" variation 1029 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:34889650" exon 1050..1764 /gene="LHX8" /gene_synonym="LHX7" /inference="alignment:Splign:1.39.8" variation 1097 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:368782371" variation 1105 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="c" /db_xref="dbSNP:377005651" variation 1160 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="t" /db_xref="dbSNP:41306167" variation 1175 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:199821156" variation 1177 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:41301265" variation 1224 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:184821578" variation 1321 /gene="LHX8" /gene_synonym="LHX7" /replace="g" /replace="t" /db_xref="dbSNP:187614610" variation 1399 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:374351080" variation 1436 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="t" /db_xref="dbSNP:192190181" variation 1490 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:142785057" variation 1543 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:184182933" variation 1604 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:147403016" variation 1690 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:190197837" variation 1702 /gene="LHX8" /gene_synonym="LHX7" /replace="a" /replace="g" /db_xref="dbSNP:4949795" polyA_signal 1732..1737 /gene="LHX8" /gene_synonym="LHX7" variation 1743 /gene="LHX8" /gene_synonym="LHX7" /replace="c" /replace="t" /db_xref="dbSNP:377666437" polyA_site 1764 /gene="LHX8" /gene_synonym="LHX7" ORIGIN
ctcacttaacctgagacatggagactgtaatttgggagatgaagcctcgagcctaaggcgctctcaggtccattgtcaggggctcatgtcagaggagtgcgggcggactacagccctggcggccgggaggactcgcaaaggcgccggggaagagggactggtgagccccgagggagcgggggacgaggactcgtgctcctcctcggccccgctgtccccgtcgtcctcgccccggtccatggcctcgggctccggctgccctcctggcaagtgtgtgtgcaacagttgcggcctggagatcgtggacaaataccttctcaaggtgaatgacctatgctggcatgtccggtgtctctcctgcagtgtttgcagaacctccctaggaaggcacaccagctgttatattaaagacaaagacattttctgcaaacttgattatttcagaaggtatggaactcgctgctctcgatgtgggagacacatccattctactgactgggtccggagagccaaggggaatgtctatcacttggcatgctttgcctgcttttcctgcaaaaggcaactttccacaggagaggagtttgctttggtggaagagaaagtcctctgcagagtacattatgactgcatgctggataatttaaaaagagaagtagaaaatgggaatgggattagtgtggaaggtgccctcctcacagagcaagatgttaaccatccaaaaccagcaaaaagagctcggaccagctttacagcagatcagcttcaggttatgcaagcacaatttgctcaggacaacaacccagatgcacagacactccagaaattggcagaaaggacaggcttgagcagacgtgtgatacaggtgtggtttcagaattgtagagcacgccacaagaaacacgtcagtcctaatcactcatcctccaccccagtcacagcagtcccaccctccaggctgtctccacccatgttagaagaaatggcttattctgcctacgtgccccaagatggaacgatgttaactgcgctgcatagttatatggatgctcattcaccaacaactcttggactccagcccttgttaccccattcaatgacacaactgccaataagtcatacctaattcttttttcagggatagacttgattaaggatataaatttgtcatttattatgtataaaataccattgaaaagatattactgttaattttttatttaacacctaaagcatttccaacatcactttgctgcccaggtatgtatctatagttggcctgcaagacacttttattaattcttcattttttgtaaaacttatgtttacaagaagaaaacaaatcaaaacattttttgtattgtctggaaatagttcactctagtgtgtatctgttaatttatttgtcatcaaaagagcactttgcctaaaagaaaggactgacaagtgtgcaaaatgtttacaatcttttgtgaaattgtagtttatcattagtttgtatctgtaagttattgtaataaatattacctgtattttttgttatatacaactttatactttgaagcttgtatctgtgaatttgcaactgaaatttattttgccaatgttttctgaatgaactgaataaagcttctgttgtagcatgccatgcaaacacattattgtgtttgtggttgatgaattatggctgtaaataacactatagtttaataagcccaccattctgagtttattaaacattttccattcttgtgaaaatttcaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:431707 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:431707 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:431707 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:431707 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:431707 -> Biological process: GO:0007611 [learning or memory] evidence: IEA GeneID:431707 -> Biological process: GO:0008585 [female gonad development] evidence: IEA GeneID:431707 -> Biological process: GO:0021884 [forebrain neuron development] evidence: IEA GeneID:431707 -> Biological process: GO:0042475 [odontogenesis of dentin-containing tooth] evidence: IEA GeneID:431707 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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