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2024-04-20 06:01:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001009812 1463 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens ladybird homeobox 2 (LBX2), mRNA. ACCESSION NM_001009812 XM_376068 VERSION NM_001009812.1 GI:57528436 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 1463) AUTHORS Chen,F., Collin,G.B., Liu,K.C., Beier,D.R., Eccles,M., Nishina,P.M., Moshang,T. and Epstein,J.A. TITLE Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome JOURNAL Genomics 74 (2), 219-227 (2001) PUBMED 11386758 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AY305861.1. On Feb 20, 2005 this sequence version replaced gi:51460639. ##Evidence-Data-START## Transcript exon combination :: AY305861.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1463 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13.1" gene 1..1463 /gene="LBX2" /gene_synonym="LP3727" /note="ladybird homeobox 2" /db_xref="GeneID:85474" /db_xref="HGNC:15525" /db_xref="HPRD:16235" /db_xref="MIM:607164" exon 1..650 /gene="LBX2" /gene_synonym="LP3727" /inference="alignment:Splign:1.39.8" variation complement(129..130) /gene="LBX2" /gene_synonym="LP3727" /replace="" /replace="g" /db_xref="dbSNP:150475363" variation complement(152) /gene="LBX2" /gene_synonym="LP3727" /replace="c" /replace="t" /db_xref="dbSNP:187387936" misc_feature 203..205 /gene="LBX2" /gene_synonym="LP3727" /note="upstream in-frame stop codon" variation complement(347) /gene="LBX2" /gene_synonym="LP3727" /replace="c" /replace="g" /db_xref="dbSNP:373390422" variation complement(368) /gene="LBX2" /gene_synonym="LP3727" /replace="c" /replace="g" /db_xref="dbSNP:73949673" variation complement(382) /gene="LBX2" /gene_synonym="LP3727" /replace="c" /replace="t" /db_xref="dbSNP:13023123" CDS 458..1042 /gene="LBX2" /gene_synonym="LP3727" /note="ladybird-like homeobox 2; lady bird-like homeobox 2; ladybird-like homeodomain protein 2; ladybird homeobox protein homolog 2; ladybird homeobox homolog 2" /codon_start=1 /product="transcription factor LBX2" /protein_id="NP_001009812.1" /db_xref="GI:57528437" /db_xref="CCDS:CCDS33228.1" /db_xref="GeneID:85474" /db_xref="HGNC:15525" /db_xref="HPRD:16235" /db_xref="MIM:607164" /translation="
MGKRTSLEVSLGELGGEKCRGGRRSFPPLAASRPARPGGWRWARRDLCKTASRAENNSQACRPQRRAGPDALGPGPFGRKRRKSRTAFTAQQVLELERRFVFQKYLAPSERDGLATRLGLANAQVVTWFQNRRAKLKRDVEEMRADVASLRALSPEVLCSLALPEGAPDPGLCLGPAGPDSRPHLSDEEIQVDD
"
misc_feature 701..871
/gene="LBX2"
/gene_synonym="LP3727"
/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(701..715,719..721,770..772,788..790,827..829,
833..838,845..850,854..862,866..871)
/gene="LBX2"
/gene_synonym="LP3727"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(707..709,716..718,836..838,845..850,857..859)
/gene="LBX2"
/gene_synonym="LP3727"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
variation complement(468)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:202062051"
variation complement(469)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:142834208"
variation complement(486)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:375023287"
variation complement(500)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:200875884"
variation complement(518)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:144712175"
variation complement(552)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:149381878"
variation complement(554)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:144078336"
variation complement(563)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="c"
/db_xref="dbSNP:138587545"
variation complement(585)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:376381341"
variation complement(609)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="c"
/db_xref="dbSNP:373496462"
exon 651..1452
/gene="LBX2"
/gene_synonym="LP3727"
/inference="alignment:Splign:1.39.8"
variation complement(659)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:184278980"
variation complement(757)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:201038966"
variation complement(766)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:12105316"
variation complement(785)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:141126761"
variation complement(788)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="c"
/db_xref="dbSNP:372670780"
variation complement(811)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:140927750"
variation complement(880)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:146479958"
variation complement(883)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:61998167"
variation complement(889)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:139236519"
variation complement(896)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:142324561"
variation complement(918)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:17009998"
variation complement(921)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:200697964"
variation complement(939)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:149434729"
variation complement(942)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:201094418"
variation complement(952)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:6546908"
variation complement(956)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:201832456"
variation complement(971)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:143171761"
variation complement(983)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:373555816"
variation complement(993)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:199798817"
variation complement(999)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="c"
/db_xref="dbSNP:369641153"
variation complement(1002)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:145702468"
variation complement(1027)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:144660513"
variation complement(1056)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:370139978"
variation complement(1064)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="t"
/db_xref="dbSNP:115466867"
variation complement(1066)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:371290188"
variation complement(1067)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="g"
/db_xref="dbSNP:114863168"
variation complement(1069)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:201617763"
variation complement(1071)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:369339716"
variation complement(1185)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:370268201"
variation complement(1188)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:76278705"
variation complement(1346)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="g"
/db_xref="dbSNP:192872827"
variation complement(1379)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="a"
/replace="t"
/db_xref="dbSNP:188831634"
variation complement(1380..1381)
/gene="LBX2"
/gene_synonym="LP3727"
/replace=""
/replace="t"
/db_xref="dbSNP:199935347"
variation complement(1380)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="g"
/replace="t"
/db_xref="dbSNP:183874491"
variation complement(1424)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="c"
/replace="t"
/db_xref="dbSNP:193258880"
variation complement(1444)
/gene="LBX2"
/gene_synonym="LP3727"
/replace="g"
/replace="t"
/db_xref="dbSNP:149693976"
ORIGIN
gcactgcgtctcccaaggtggctgaagctggccagctgcgggctccgcgccgctcgtcccgggtctatgggtccattccccacgcccacccggaccccggggtcactcgggtctccgtctgtgccagggagggagaatcacgcccagggtcctctctggcttcgcgcgactgagaacgcgcccggacgcggcgcggcgctcctgagtcaaaggagaggtggcggcaggaccaccccagggcgccgtctgcacccccggacgcactcggccgtgctgcgcttccgggacaaggcgtcggttctcgcctgagggccaaaccttgcccctgcccaccttcctcacccccgccatttccaggactcacatccaaaggcgacagcaccaggatttgctcccgcctttggcacagaggaggacgggtccctctctcagcctggccagtctttcccagggcttgatgggaaaaaggacttccctagaagtgagtcttggggagttggggggagaaaagtgtcgaggagggcgtcggagtttcccaccgctggctgcttcccggcccgcacgcccgggagggtggcggtgggcgcgcagagatctttgcaaaacagcgtccagggcggaaaacaactcacaggcctgccgcccccaaaggcgggcaggtccggacgcgctgggccctggtcccttcggccgcaaacggcgcaagtcacgcactgcgttcaccgcgcaacaggtgctggagctggagcggcgcttcgtcttccagaagtacctggcgccgtccgagcgagacgggctagctacgcgactcggcctggccaacgcgcaggtggtcacttggttccagaaccggcgagccaagctcaagcgcgatgtggaggagatgcgcgccgacgtcgcctcgctacgcgcgttgtccccggaagtcctgtgcagcttagcactgcccgaaggcgctccagatcccggcctctgcctcggccctgccggccctgactcccggccccacctgtcagacgaggagatacaggtggacgattgaagacaaagccgccgccaatcctgggctctggggccctggactcctcacctcgcgctctgcctctggccagagttccagggtggaggaaggaggtccacttgggcctcttccggcccacagtccagacgctcacctttcccggtttttttgtaagtttgttttgttgtctgagacagggcctcgctctgtcgcccaggctggagtgccgtggagcgatcaccgctcactgcagtcgcgacctcctgggctcaagcgatcctcctgcctcaacctcccgactagctggcattacaggcgtgcagcaccaccccaggctaatttaaaaaacttttttttttagagaggaggtcccgctatgttgtccaggctactttcccaatatttgagaataaagtcgagactctgccgcaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:85474 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:85474 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:85474 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:85474 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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