2025-05-09 20:04:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004789 2416 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens LIM homeobox 2 (LHX2), mRNA. ACCESSION NM_004789 VERSION NM_004789.3 GI:30795195 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 2416) AUTHORS Perez,C., Dastot-Le Moal,F., Collot,N., Legendre,M., Abadie,I., Bertrand,A.M., Amselem,S. and Sobrier,M.L. TITLE Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities JOURNAL Eur. J. Endocrinol. 167 (1), 85-91 (2012) PUBMED 22535646 REMARK GeneRIF: These results suggest that if LHX2 is involved in pituitary hormone deficiency associated with posterior pituitary and ocular defects, it would be a rare cause of this disease condition. REFERENCE 2 (bases 1 to 2416) AUTHORS Mellado,C., Poduri,A., Gleason,D., Elhosary,P.C., Barry,B.J., Partlow,J.N., Chang,B.S., Shaw,G.M., Barkovich,A.J. and Walsh,C.A. TITLE Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort JOURNAL Am. J. Med. Genet. A 152A (11), 2736-2742 (2010) PUBMED 20949537 REMARK GeneRIF: A large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, were sequenced for mutations in LHX2, HESX1 and SOX2. REFERENCE 3 (bases 1 to 2416) AUTHORS Desmaison,A., Vigouroux,A., Rieubland,C., Peres,C., Calvas,P. and Chassaing,N. TITLE Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia JOURNAL Mol. Vis. 16, 2847-2849 (2010) PUBMED 21203406 REMARK GeneRIF: Mutations in LHX2 do not represent a frequent cause of micro/anophthalmia. Publication Status: Online-Only REFERENCE 4 (bases 1 to 2416) AUTHORS Glenn,D.J. and Maurer,R.A. TITLE MRG1 binds to the LIM domain of Lhx2 and may function as a coactivator to stimulate glycoprotein hormone alpha-subunit gene expression JOURNAL J. Biol. Chem. 274 (51), 36159-36167 (1999) PUBMED 10593900 REFERENCE 5 (bases 1 to 2416) AUTHORS Bach,I., Rodriguez-Esteban,C., Carriere,C., Bhushan,A., Krones,A., Rose,D.W., Glass,C.K., Andersen,B., Izpisua Belmonte,J.C. and Rosenfeld,M.G. TITLE RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex JOURNAL Nat. Genet. 22 (4), 394-399 (1999) PUBMED 10431247 REFERENCE 6 (bases 1 to 2416) AUTHORS Rincon-Limas,D.E., Lu,C.H., Canal,I., Calleja,M., Rodriguez-Esteban,C., Izpisua-Belmonte,J.C. and Botas,J. TITLE Conservation of the expression and function of apterous orthologs in Drosophila and mammals JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (5), 2165-2170 (1999) PUBMED 10051612 REFERENCE 7 (bases 1 to 2416) AUTHORS Bendall,A.J., Rincon-Limas,D.E., Botas,J. and Abate-Shen,C. TITLE Protein complex formation between Msx1 and Lhx2 homeoproteins is incompatible with DNA binding activity JOURNAL Differentiation 63 (3), 151-157 (1998) PUBMED 9697309 REFERENCE 8 (bases 1 to 2416) AUTHORS Wu,H.K., Heng,H.H., Siderovski,D.P., Dong,W.F., Okuno,Y., Shi,X.M., Tsui,L.C. and Minden,M.D. TITLE Identification of a human LIM-Hox gene, hLH-2, aberrantly expressed in chronic myelogenous leukaemia and located on 9q33-34.1 JOURNAL Oncogene 12 (6), 1205-1212 (1996) PUBMED 8649822 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK027597.1. On May 16, 2003 this sequence version replaced gi:28077086. Summary: This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK027597.1, U11701.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2416 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q33.3" gene 1..2416 /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="LIM homeobox 2" /db_xref="GeneID:9355" /db_xref="HGNC:6594" /db_xref="HPRD:04786" /db_xref="MIM:603759" exon 1..859 /gene="LHX2" /gene_synonym="hLhx2; LH2" /inference="alignment:Splign:1.39.8" variation 51 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:370200195" variation 137 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="g" /db_xref="dbSNP:112507291" variation 391 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="c" /db_xref="dbSNP:185294494" variation 627 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:7868184" STS 661..1980 /gene="LHX2" /gene_synonym="hLhx2; LH2" /db_xref="UniSTS:484345" misc_feature 677..679 /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="upstream in-frame stop codon" CDS 740..1960 /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="LIM HOX gene 2; LIM homeobox protein 2; homeobox protein LH-2" /codon_start=1 /product="LIM/homeobox protein Lhx2" /protein_id="NP_004780.3" /db_xref="GI:30795196" /db_xref="CCDS:CCDS6853.1" /db_xref="GeneID:9355" /db_xref="HGNC:6594" /db_xref="HPRD:04786" /db_xref="MIM:603759" /translation="
MLFHSLSGPEVHGVIDEMDRRAKSEAPAISSAIDRGDTETTMPSISSDRAALCAGCGGKISDRYYLLAVDKQWHMRCLKCCECKLNLESELTCFSKDGSIYCKEDYYRRFSVQRCARCHLGISASEMVMRARDLVYHLNCFTCTTCNKMLTTGDHFGMKDSLVYCRLHFEALLQGEYPAHFNHADVAAAAAAAAAAKSAGLGAAGANPLGLPYYNGVGTVQKGRPRKRKSPGPGADLAAYNAALSCNENDAEHLDRDQPYPSSQKTKRMRTSFKHHQLRTMKSYFAINHNPDAKDLKQLAQKTGLTKRVLQVWFQNARAKFRRNLLRQENTGVDKSTDAALQTGTPSGPASELSNASLSPSSTPTTLTDLTSPTLPTVTSVLTSVPGNLEGHEPHSPSQTTLTNLF
" misc_feature 866..1057 /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="The first LIM domain of Lhx2; Region: LIM1_Lhx2; cd09469" /db_xref="CDD:188853" misc_feature order(896..898,905..907,959..961,968..970,977..979, 986..988,1043..1045,1052..1054) /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188853" misc_feature 1070..1246 /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="The second LIM domain of Lhx2 and Lhx9 family; Region: LIM2_Lhx2_Lhx9; cd09377" /db_xref="CDD:188763" misc_feature order(1082..1084,1091..1093,1148..1150,1157..1159, 1166..1168,1175..1177,1232..1234,1241..1243) /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188763" misc_feature 1538..1711 /gene="LHX2" /gene_synonym="hLhx2; LH2" /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(1538..1552,1556..1558,1607..1609,1625..1627, 1664..1666,1670..1675,1682..1687,1691..1699,1703..1708) /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(1544..1546,1553..1555,1673..1675,1682..1687, 1694..1696) /gene="LHX2" /gene_synonym="hLhx2; LH2" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature 1658..1708 /gene="LHX2" /gene_synonym="hLhx2; LH2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P50458.2); Region: Nuclear localization signal (Potential)" variation 848 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:368708873" exon 860..1062 /gene="LHX2" /gene_synonym="hLhx2; LH2" /inference="alignment:Splign:1.39.8" variation 887 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:113895098" variation 892 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:149553241" variation 901 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="g" /db_xref="dbSNP:201094464" variation 915 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:370570070" variation 961 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:373557738" variation 1030 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:144291200" exon 1063..1466 /gene="LHX2" /gene_synonym="hLhx2; LH2" /inference="alignment:Splign:1.39.8" variation 1075 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:371648637" variation 1090 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:370825161" variation 1105 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:148731127" variation 1114 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:186488928" variation 1123 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="g" /db_xref="dbSNP:144871925" variation 1246 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="c" /db_xref="dbSNP:375687666" variation 1260 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="t" /db_xref="dbSNP:368805518" variation 1342 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:201206386" variation 1354 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:373482464" variation 1388 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:189601606" variation 1438 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="g" /db_xref="dbSNP:376893872" exon 1467..1672 /gene="LHX2" /gene_synonym="hLhx2; LH2" /inference="alignment:Splign:1.39.8" variation 1504 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:61734362" variation 1515 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="c" /db_xref="dbSNP:140229756" variation 1522 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="g" /db_xref="dbSNP:1042486" variation 1609 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:367850838" exon 1673..2416 /gene="LHX2" /gene_synonym="hLhx2; LH2" /inference="alignment:Splign:1.39.8" variation 1732 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:373941963" variation 1736 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:151109428" variation 1756 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:138022431" variation 1771..1772 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="" /replace="t" /db_xref="dbSNP:34002135" variation 1779 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:369099431" variation 1786 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:3739828" variation 1792 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:149656598" variation 1828 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:368045815" variation 1876 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="g" /replace="t" /db_xref="dbSNP:145536168" variation 1906 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:140281616" variation 1912 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="g" /db_xref="dbSNP:371809737" variation 1981 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="c" /db_xref="dbSNP:369641402" variation 2030 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:370577629" variation 2093..2094 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="" /replace="a" /db_xref="dbSNP:147636766" variation 2100..2101 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="" /replace="a" /db_xref="dbSNP:78148114" variation 2111 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:182696516" variation 2124 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="g" /db_xref="dbSNP:187764355" variation 2159 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:146019691" variation 2244 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:192376887" variation 2288 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:138733410" variation 2317 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="c" /replace="t" /db_xref="dbSNP:184610929" variation 2368 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="a" /replace="c" /db_xref="dbSNP:199684038" variation 2369..2370 /gene="LHX2" /gene_synonym="hLhx2; LH2" /replace="" /replace="a" /db_xref="dbSNP:11404693" ORIGIN
gactgcagagccggggctgggctaggcgcgcgcttggagagcattgcgcgcggctgggcccgcggccggcggctcctcctcccactctgctcctcctcttttttctcctcctccacctcctcctccgcctcctcctcctcctcttcctcctcctcttcaattctcccggtggctcgactcggctcgcaggcttcggagaaacccctactccagtcgccgactcagcgcccaagagggtcgccttgggctgggggcgcaccccagggaggggaggggtccaggcagctgggccgccgcggacacctagcggcttcagggtgaaccccgaccgcagccgtcgccgcctcgggcagagtttgcgcccttgctttgcgccccgggcgctgaagccgggcgggcgatgcccgcggcgtgaaagcgcccgcggcgggcgccgacctctgtcctagtctcctgctccccccgccccgcttgtcccgtgcccttgtgaccctggctttggcgccgtcgcccaggcgccccgcaatgtagctgcccctgcgcctcggcgggaggcgtcctgccccgcgagcgcccggggcccggagcccggcctgggggctcagccgagctcgggcggggccggggccgcggtggcgatgcaccgggcccgttagcgccaggagcgccaggcagctgaggcggggggcaagccctccctcggaggagccgcgcccccggccccgccggtcccgccgcgatgctgttccacagtctgtcgggccccgaggtgcacggggtcatcgacgagatggaccgcagggccaagagcgaggctcccgccatcagctccgccatcgaccgcggcgacaccgagacgaccatgccgtccatcagcagtgaccgcgccgcgctgtgcgccggctgcgggggcaagatctcggaccgctactacctgctggcggtggacaagcagtggcacatgcgctgcctcaagtgctgcgagtgcaagctcaacctggagtcggagctcacctgtttcagcaaggacggtagcatctactgcaaggaagactactacaggcgcttctctgtgcagcgctgcgcccgctgccacctgggcatctcggcctcggagatggtgatgcgcgctcgggacttggtttatcacctcaactgcttcacgtgcaccacgtgtaacaagatgctgaccacgggcgaccacttcggcatgaaggacagcctggtctactgccgcttgcacttcgaggcgctgctgcagggcgagtaccccgcacacttcaaccatgccgacgtggcagcggcggccgctgcagccgcggcggccaagagcgcggggctgggcgcagcaggggccaaccctctgggtcttccctactacaatggcgtgggcactgtgcagaaggggcggccgaggaaacgtaagagcccgggccccggtgcggatctggcggcctacaacgctgcgctaagctgcaacgaaaacgacgcagagcacctggaccgtgaccagccatacccgagcagccagaagaccaagcgcatgcgcacgtccttcaagcaccaccagcttcggaccatgaagtcttactttgccattaaccacaaccccgacgccaaggacttgaagcagctcgcgcaaaagacgggcctcaccaagcgggtcctccaggtctggttccagaacgcccgagccaagttcaggcgcaacctcttacggcaggaaaacacgggcgtggacaagtcgacagacgcggcgctgcagacagggacgccatcgggcccggcctcggagctctccaacgcctcgctcagcccctccagcacgcccaccaccctgacagacttgactagccccaccctgccaactgtgacgtccgtcttaacttctgtgcctggcaacctggagggccatgagcctcacagcccctcacaaacgactcttaccaaccttttctaatgactcgcaacccctcaccccacaatttctttaaaaaagaaattatctttagttgaattccaagtgtattttaaaatagaggctttgagcaactaactaaccacattttaggatctcgcctggaaacagaggtaaaaaaaagaagtgtgcgcccggctaatgcagcggtgtggaccgaggaacaacttggaagatctacctgcaacacaacatttgtgtcactgtacagttttgtggactgagcgaggaaaaacaacaaataatttaagttggctagagcttctgtattttcaaagactgccacgtgccttaggaatactgttttatctccatactttggatgacttgttcatttttctctccctctttttctctgtatatttatgaccagagcaaaaatgtaaaaaacaaaaaaaacaacaaaaaaagtttgttactttgaatagtcctaaaaag
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9355 -> Molecular function: GO:0001076 [RNA polymerase II transcription factor binding transcription factor activity] evidence: IEA GeneID:9355 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:9355 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:9355 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:9355 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA GeneID:9355 -> Biological process: GO:0007411 [axon guidance] evidence: IEA GeneID:9355 -> Biological process: GO:0007498 [mesoderm development] evidence: IEA GeneID:9355 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: IEA GeneID:9355 -> Biological process: GO:0021978 [telencephalon regionalization] evidence: IEA GeneID:9355 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: ISS GeneID:9355 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:9355 -> Biological process: GO:2000678 [negative regulation of transcription regulatory region DNA binding] evidence: IEA GeneID:9355 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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