2025-05-09 19:29:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020063 1496 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA. ACCESSION NM_020063 XM_291583 VERSION NM_020063.1 GI:39930382 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 1496) AUTHORS Bulfone,A., Menguzzato,E., Broccoli,V., Marchitiello,A., Gattuso,C., Mariani,M., Consalez,G.G., Martinez,S., Ballabio,A. and Banfi,S. TITLE Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS JOURNAL Hum. Mol. Genet. 9 (9), 1443-1452 (2000) PUBMED 10814725 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY338397.1. On Jan 1, 2004 this sequence version replaced gi:37548900. ##Evidence-Data-START## Transcript exon combination :: AY338397.1, BC126439.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1496 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p22.2" gene 1..1496 /gene="BARHL2" /note="BarH-like homeobox 2" /db_xref="GeneID:343472" /db_xref="HGNC:954" /db_xref="HPRD:05555" /db_xref="MIM:605212" exon 1..667 /gene="BARHL2" /inference="alignment:Splign:1.39.8" variation complement(1) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:377349086" variation complement(2) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:201655982" variation complement(5) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:369995490" misc_feature 10..12 /gene="BARHL2" /note="upstream in-frame stop codon" variation complement(11) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:201344199" STS 17..1303 /gene="BARHL2" /db_xref="UniSTS:485834" variation complement(19) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:200060831" variation complement(32) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:191773358" CDS 43..1206 /gene="BARHL2" /codon_start=1 /product="barH-like 2 homeobox protein" /protein_id="NP_064447.1" /db_xref="GI:39930383" /db_xref="CCDS:CCDS730.1" /db_xref="GeneID:343472" /db_xref="HGNC:954" /db_xref="HPRD:05555" /db_xref="MIM:605212" /translation="
MTMEGASGSSFGIDTILSSASSGSPGMMNGDFRPLGEARTADFRSQATPSPCSEIDTVGTAPSSPISVTMEPPEPHLVADATQHHHHLHHSQQPPPPAAAPTQSLQPLPQQQQPLPPQQPPPPPPQQLGSAASAPRTSTSSFLIKDILGDSKPLAACAPYSTSVSSPHHTPKQESNAVHESFRPKLEQEDSKTKLDKREDSQSDIKCHGTKEEGDREITSSRESPPVRAKKPRKARTAFSDHQLNQLERSFERQKYLSVQDRMDLAAALNLTDTQVKTWYQNRRTKWKRQTAVGLELLAEAGNYSALQRMFPSPYFYHPSLLGSMDSTTAAAAAAAMYSSMYRTPPAPHPQLQRPLVPRVLIHGLGPGGQPALNPLSSPIPGTPHPR
" misc_feature 739..912 /gene="BARHL2" /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(739..753,757..759,808..810,826..828,865..867, 871..876,883..888,892..900,904..909) /gene="BARHL2" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(745..747,754..756,874..876,883..888,895..897) /gene="BARHL2" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation complement(55) /gene="BARHL2" /replace="c" /replace="g" /db_xref="dbSNP:376915184" variation complement(82) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:373178647" variation complement(86) /gene="BARHL2" /replace="c" /replace="g" /db_xref="dbSNP:368872732" variation complement(102) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:377177651" variation complement(167) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:200681160" variation complement(204) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:145559721" variation complement(213) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:369627381" variation complement(214) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:150916366" variation complement(224) /gene="BARHL2" /replace="c" /replace="g" /db_xref="dbSNP:377585562" variation complement(246) /gene="BARHL2" /replace="a" /replace="c" /db_xref="dbSNP:148411180" variation complement(264) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:377127285" variation complement(267) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:141603891" variation complement(344) /gene="BARHL2" /replace="a" /replace="c" /db_xref="dbSNP:375986324" variation complement(483) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:138592538" STS 506..573 /gene="BARHL2" /standard_name="Barhl2" /db_xref="UniSTS:507945" variation complement(537) /gene="BARHL2" /replace="c" /replace="g" /db_xref="dbSNP:75192719" variation complement(545) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:199834270" variation complement(548) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:151239451" variation complement(560) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:201396859" variation complement(581) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:146412001" variation complement(607) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:201827905" variation complement(610) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:147696781" variation complement(613) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:201997253" variation complement(634) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:200065986" exon 668..893 /gene="BARHL2" /inference="alignment:Splign:1.39.8" variation complement(691) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:1335726" variation complement(708) /gene="BARHL2" /replace="a" /replace="t" /db_xref="dbSNP:190448640" variation complement(762) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:115396841" variation complement(765) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:140007404" variation complement(774) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:200161940" variation complement(788) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:200810979" variation complement(801) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:374816489" variation complement(810) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:371535178" variation complement(816) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:367953586" variation complement(846) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:187585491" variation complement(864) /gene="BARHL2" /replace="c" /replace="g" /db_xref="dbSNP:374374681" exon 894..1496 /gene="BARHL2" /inference="alignment:Splign:1.39.8" variation complement(918) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:370927916" variation complement(939) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:141540345" variation complement(981) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:116715073" variation complement(992) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:199523003" variation complement(999) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:141724152" variation complement(1020) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:113868658" variation complement(1037) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:377759812" variation complement(1039) /gene="BARHL2" /replace="c" /replace="g" /db_xref="dbSNP:200824967" variation complement(1042) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:374453417" variation complement(1078) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:149316850" variation complement(1117) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:369760372" variation complement(1118) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:374597157" variation complement(1146) /gene="BARHL2" /replace="a" /replace="g" /db_xref="dbSNP:369524532" variation complement(1177) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:200399976" variation complement(1211) /gene="BARHL2" /replace="a" /replace="t" /db_xref="dbSNP:190029175" variation complement(1243) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:372034213" variation complement(1257) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:371381754" variation complement(1428) /gene="BARHL2" /replace="g" /replace="t" /db_xref="dbSNP:2390606" variation complement(1458) /gene="BARHL2" /replace="c" /replace="t" /db_xref="dbSNP:7538780" ORIGIN
ggcggctgctgaacggcggagtggcgtggacctcatgtagcaatgacaatggaaggggccagcgggtcgagttttggaatagacacgattttgtccagtgccagttcaggcagcccaggcatgatgaatggagatttccgcccgctcggtgaggccaggaccgcggattttaggagtcaggccaccccatctccctgttcggagattgataccgtagggacggcgccttcttctcctatctcagtcaccatggagcccccggagccgcatctggtagcagacgcgacccagcatcatcaccacctccaccacagccagcagccgccgccgccggccgcggccccgacgcaaagtttgcagcctttgccccaacagcagcagccgctgccgccacagcagccgccgccgccgcccccccagcagctgggctcggccgcctcggcccccaggacttccacgtcttcttttttaattaaggacatcttgggcgacagcaaacctctggcggcatgtgcaccctacagcaccagcgtatcctctccccaccacaccccgaagcaggagagcaacgcagtgcacgagagcttcaggccaaagctcgagcaggaggacagcaagaccaaactcgacaagcgggaggattcccagagcgacatcaaatgccacgggacaaaggaggaaggagaccgggagattacgagtagccgtgagagtccccctgtgagagccaagaagcctcgaaaagcaaggacagctttttccgaccaccagctcaatcaactggagcgtagctttgagcggcagaagtacctgagcgtgcaggatcgcatggacctggctgcagcgctcaacctcactgacacccaagtcaagacctggtaccagaaccgcaggaccaagtggaagcggcagacagcggtgggcctggagttgctggccgaggcagggaactactcggcgctgcagaggatgtttccatcgccttatttctatcacccaagcctgctgggcagcatggacagcactacggcggcggcggctgccgctgccatgtacagcagcatgtaccggactcctccagcaccccatccccagctgcagcggcccctggtgccccgtgtgctcatccacggcctagggcctgggggacagccagcccttaatccattgtccagccccatcccaggcaccccacacccccggtgaaaacattgcagcgaaggcactgcaatcccttccccatatccctgcccaacccggactgctgcccgtcctctccctgctccaggccactaggcctcccttgcagccaactctggaaggcagaggagtaagagaggaagatgcttaccagtgggcaggggacccccaaagaggagccagccctctgctctccatctccccacccctagaaacagggctggaaatctcccccacagcagtgtgactggtgaaaatgctgaccccacacagagtgcaaccagtaagtgaaaaca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:343472 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IEA GeneID:343472 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:343472 -> Biological process: GO:0001709 [cell fate determination] evidence: IEA GeneID:343472 -> Biological process: GO:0001764 [neuron migration] evidence: IEA GeneID:343472 -> Biological process: GO:0030182 [neuron differentiation] evidence: IEA GeneID:343472 -> Biological process: GO:0030516 [regulation of axon extension] evidence: IEA GeneID:343472 -> Biological process: GO:0045727 [positive regulation of translation] evidence: IEA GeneID:343472 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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@meso_cacase at
DBCLS
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