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2025-05-09 19:20:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005222 1892 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens distal-less homeobox 6 (DLX6), mRNA. ACCESSION NM_005222 XM_376652 XM_379892 VERSION NM_005222.3 GI:294610639 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 1892) AUTHORS Vera-Carbonell,A., Moya-Quiles,M.R., Ballesta-Martinez,M., Lopez-Gonzalez,V., Bafalliu,J.A., Guillen-Navarro,E. and Lopez-Exposito,I. TITLE Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway JOURNAL Gene 497 (2), 292-297 (2012) PUBMED 22342398 REMARK GeneRIF: Two patients that have in common a p63-Dlx5/Dlx6 pathway dysregulation. REFERENCE 2 (bases 1 to 1892) AUTHORS Kouwenhoven,E.N., van Heeringen,S.J., Tena,J.J., Oti,M., Dutilh,B.E., Alonso,M.E., de la Calle-Mustienes,E., Smeenk,L., Rinne,T., Parsaulian,L., Bolat,E., Jurgelenaite,R., Huynen,M.A., Hoischen,A., Veltman,J.A., Brunner,H.G., Roscioli,T., Oates,E., Wilson,M., Manzanares,M., Gomez-Skarmeta,J.L., Stunnenberg,H.G., Lohrum,M., van Bokhoven,H. and Zhou,H. TITLE Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus JOURNAL PLoS Genet. 6 (8), E1001065 (2010) PUBMED 20808887 REMARK GeneRIF: p63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and DLX5 which are important for limb development. Publication Status: Online-Only REFERENCE 3 (bases 1 to 1892) AUTHORS Morini,M., Astigiano,S., Gitton,Y., Emionite,L., Mirisola,V., Levi,G. and Barbieri,O. TITLE Mutually exclusive expression of DLX2 and DLX5/6 is associated with the metastatic potential of the human breast cancer cell line MDA-MB-231 JOURNAL BMC Cancer 10, 649 (2010) PUBMED 21108812 REMARK GeneRIF: MDA-MB-231 breast neoplasms did not express DLX6 but the resulting bone/lung metastases did. Publication Status: Online-Only REFERENCE 4 (bases 1 to 1892) AUTHORS Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C. TITLE Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia JOURNAL PLoS ONE 5 (7), E11493 (2010) PUBMED 20634891 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 5 (bases 1 to 1892) AUTHORS Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP, Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES and Zmuda JM. CONSRTM MrOS Research Group TITLE High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men JOURNAL J. Bone Miner. Res. 24 (12), 2039-2049 (2009) PUBMED 19453261 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 1892) AUTHORS Depew,M.J., Lufkin,T. and Rubenstein,J.L. TITLE Specification of jaw subdivisions by Dlx genes JOURNAL Science 298 (5592), 381-385 (2002) PUBMED 12193642 REMARK GeneRIF: In mice, deletion of Dlx5 and Dlx6 results in skull repatterning, including a homeotic transformation of the lower jaw into an upper jaw, and supports a model of patterning within branchial arches that relies on a nested pattern of Dlx gene expression. REFERENCE 7 (bases 1 to 1892) AUTHORS Charite,J., McFadden,D.G., Merlo,G., Levi,G., Clouthier,D.E., Yanagisawa,M., Richardson,J.A. and Olson,E.N. TITLE Role of Dlx6 in regulation of an endothelin-1-dependent, dHAND branchial arch enhancer JOURNAL Genes Dev. 15 (22), 3039-3049 (2001) PUBMED 11711438 REMARK GeneRIF: In mice, Dlx6 acts as an intermediary between endothelin-1 signaling and transcription of the basic helix-loop-helix transcription factor dHAND during craniofacial morphogenesis. REFERENCE 8 (bases 1 to 1892) AUTHORS Crackower,M.A., Scherer,S.W., Rommens,J.M., Hui,C.C., Poorkaj,P., Soder,S., Cobben,J.M., Hudgins,L., Evans,J.P. and Tsui,L.C. TITLE Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development JOURNAL Hum. Mol. Genet. 5 (5), 571-579 (1996) PUBMED 8733122 REFERENCE 9 (bases 1 to 1892) AUTHORS Simeone,A., Acampora,D., Pannese,M., D'Esposito,M., Stornaiuolo,A., Gulisano,M., Mallamaci,A., Kastury,K., Druck,T., Huebner,K. et al. TITLE Cloning and characterization of two members of the vertebrate Dlx gene family JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (6), 2250-2254 (1994) PUBMED 7907794 REFERENCE 10 (bases 1 to 1892) AUTHORS Cross,S.H., Charlton,J.A., Nan,X. and Bird,A.P. TITLE Purification of CpG islands using a methylated DNA binding column JOURNAL Nat. Genet. 6 (3), 236-244 (1994) PUBMED 8012384 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC004774.1, AK094086.1 and BU616500.1. On Apr 13, 2010 this sequence version replaced gi:82659114. Summary: This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: AK094086.1, BC103688.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-219 AC004774.1 111871-112089 220-995 AK094086.1 31-806 996-1637 AC004774.1 116054-116695 1638-1892 BU616500.1 1-255 c FEATURES Location/Qualifiers source 1..1892 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q22" gene 1..1892 /gene="DLX6" /note="distal-less homeobox 6" /db_xref="GeneID:1750" /db_xref="HGNC:2919" /db_xref="MIM:600030" CDS 1..882 /gene="DLX6" /note="distal-less homeo box 6" /codon_start=1 /product="homeobox protein DLX-6" /protein_id="NP_005213.3" /db_xref="GI:294610640" /db_xref="CCDS:CCDS47647.2" /db_xref="GeneID:1750" /db_xref="HGNC:2919" /db_xref="MIM:600030" /translation="
MMTMTTMADGLEGQDSSKSAFMEFGQQQQQQQQQQQQQQQQQQQPPPPPPPPPQPHSQQSSPAMAGAHYPLHCLHSAAAAAAAGSHHHHHHQHHHHGSPYASGGGNSYNHRSLAAYPYMSHSQHSPYLQSYHNSSAAAQTRGDDTDQQKTTVIENGEIRFNGKGKKIRKPRTIYSSLQLQALNHRFQQTQYLALPERAELAASLGLTQTQVKIWFQNKRSKFKKLLKQGSNPHESDPLQGSAALSPRSPALPPVWDVSASAKGVSMPPNSYMPGYSHWYSSPHQDTMQRPQMM
"
misc_feature 355..>705
/gene="DLX6"
/note="Homeodomain-containing transcription factor
[Transcription]; Region: COG5576"
/db_xref="CDD:35135"
misc_feature 502..672
/gene="DLX6"
/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(502..516,520..522,571..573,589..591,628..630,
634..639,646..651,655..663,667..672)
/gene="DLX6"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(508..510,517..519,637..639,646..651,658..660)
/gene="DLX6"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
exon 1..436
/gene="DLX6"
/inference="alignment:Splign:1.39.8"
variation 51
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200317268"
variation 74..75
/gene="DLX6"
/replace=""
/replace="gca"
/db_xref="dbSNP:5885995"
variation 75..76
/gene="DLX6"
/replace=""
/replace="gca"
/db_xref="dbSNP:34325324"
variation 93
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:191859647"
variation 99
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:35692573"
variation 102
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:35478952"
variation 132..133
/gene="DLX6"
/replace=""
/replace="gcc"
/db_xref="dbSNP:374304439"
STS 322..1694
/gene="DLX6"
/db_xref="UniSTS:484280"
variation 339
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:183079486"
STS 355..882
/gene="DLX6"
/db_xref="UniSTS:481676"
variation 430
/gene="DLX6"
/replace="c"
/replace="g"
/db_xref="dbSNP:201763801"
exon 437..630
/gene="DLX6"
/inference="alignment:Splign:1.39.8"
variation 534
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:141424124"
exon 631..1875
/gene="DLX6"
/inference="alignment:Splign:1.39.8"
variation 659
/gene="DLX6"
/replace="a"
/replace="c"
/db_xref="dbSNP:74517213"
variation 705
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:371198246"
variation 722
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:185805944"
variation 723
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:369370543"
variation 740
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373223835"
variation 741
/gene="DLX6"
/replace="a"
/replace="c"
/db_xref="dbSNP:376417071"
variation 749
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201772433"
variation 779
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374453064"
variation 780
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:377688666"
variation 800
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370326007"
variation 846
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373065383"
variation 858
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:376564037"
variation 864
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:370659738"
variation 891
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:3213654"
variation 911
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368469391"
variation 953
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:73404534"
variation 1018
/gene="DLX6"
/replace="a"
/replace="t"
/db_xref="dbSNP:368276391"
variation 1028..1029
/gene="DLX6"
/replace=""
/replace="ctct"
/db_xref="dbSNP:147798666"
variation 1028
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:74453173"
variation 1029..1030
/gene="DLX6"
/replace=""
/replace="ctct"
/db_xref="dbSNP:372339668"
variation 1031..1032
/gene="DLX6"
/replace=""
/replace="tctc"
/db_xref="dbSNP:372057798"
variation 1044..1045
/gene="DLX6"
/replace=""
/replace="tctc"
/db_xref="dbSNP:72253025"
variation 1055
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:62497451"
variation 1144
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:57912676"
variation 1164
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:139659816"
variation 1202
/gene="DLX6"
/replace="c"
/replace="g"
/db_xref="dbSNP:73708838"
variation 1251
/gene="DLX6"
/replace="g"
/replace="t"
/db_xref="dbSNP:141958376"
variation 1276
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:34606656"
STS 1360..1556
/gene="DLX6"
/standard_name="A005M09"
/db_xref="UniSTS:56397"
STS 1360..1556
/gene="DLX6"
/standard_name="G20327"
/db_xref="UniSTS:56396"
variation 1370
/gene="DLX6"
/replace="g"
/replace="t"
/db_xref="dbSNP:190661080"
variation 1405
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:150681036"
STS 1483..1615
/gene="DLX6"
/standard_name="D7S2918"
/db_xref="UniSTS:82727"
variation 1548
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:180913900"
variation 1550
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:181772483"
STS 1579..1765
/gene="DLX6"
/standard_name="RH91820"
/db_xref="UniSTS:87249"
variation 1593
/gene="DLX6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1568942"
variation 1611..1612
/gene="DLX6"
/replace=""
/replace="a"
/db_xref="dbSNP:201317999"
variation 1612
/gene="DLX6"
/replace="a"
/replace="t"
/db_xref="dbSNP:2272279"
variation 1650..1651
/gene="DLX6"
/replace=""
/replace="c"
/db_xref="dbSNP:144840049"
variation 1653
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2272280"
variation 1655
/gene="DLX6"
/replace="a"
/replace="c"
/db_xref="dbSNP:182794737"
variation 1685
/gene="DLX6"
/replace="c"
/replace="g"
/db_xref="dbSNP:186428825"
variation 1793
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2272281"
variation 1800
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2272282"
variation 1834
/gene="DLX6"
/replace="c"
/replace="t"
/db_xref="dbSNP:191071332"
polyA_site 1875
/gene="DLX6"
ORIGIN
atgatgaccatgactacgatggctgacggcttggaaggccaggactcgtccaaatccgccttcatggagttcgggcagcagcagcagcagcagcagcaacagcagcagcagcagcagcagcaacagcaacagccgccgccgccgccgccgccgccgccgcagccgcactcgcagcagagctccccggccatggcaggcgcgcactaccctctgcactgcctgcactcggcggcggcggcggcagcggccggctcgcaccaccaccaccaccaccagcaccaccaccacggctcgccctacgcgtcgggcggagggaactcctacaaccaccgctcgctcgccgcctacccctacatgagccactcgcagcacagcccttacctccagtcctaccacaacagcagcgcagccgcccagacgcgaggggacgacacagatcaacaaaaaactacagtgattgaaaacggggaaatcaggttcaatggaaaagggaaaaagattcggaagcctcggaccatttattccagcctgcagctccaggctttaaaccatcgctttcagcagacacagtatctggcccttccagagagagccgaactggcagcttccttaggactgacacaaacacaggtgaagatatggtttcagaacaaacgctctaagtttaagaaactgctgaagcagggcagtaatcctcatgagagcgaccccctccagggctcggcggccctgtcgccacgctcgccagcgctgcctccagtctgggacgtttctgcctcggccaagggtgtcagtatgccccccaacagctacatgcctggctattctcactggtactcctctccacaccaggacacgatgcagagaccacagatgatgtgagttgcccaagggaacaccctagggaaacgtctgaacaaggaaaagaggatccgggacctgcttgtatctgcgaaaaggagccaaaggagcaggcttaggagagctcataagtgtggcaagaagccgactaggctcattctctctccctctctctctctctccctctcctttctttttacttcttcctttcctccattccttctttctttccttttcctttctacctttcttttctttttgcctttcaccttttttctcatttaccttctctcttgagcaacgtcagtaattgatcttgcatctcagagagagagaaagagcatgtgtgagagagaaactggtttctatgccagcactcctgaaaccccttactgtaaggatattttctcttaccccttgggatccaggctctgagtctcttctctttgggagtatccatcaaaatgactttttttaaaaacagattttcccccaaccagaagaatctgcacaaacttggcagcgtttttacttgtttaatgagtttaagacattacatggtgaaagagaagcattttggactcctgcatttttatttaccattcccagactgacgagaaaaagaaaattcctcacataacagcccttctctaaagaaaaaggaaaaagtggctgtaagattagaacattgctacaaagggaatgctgcatgttttatcaaaatgcaatgaccaggaatgatggttgattaaaaaaaaacaaaacaaaaaccactctttccccaccccacccccccaaaccctgaactggaatcaggaaagacggaggaaacaatcaaaatcaccattctattgctttgacacctttactaggtgaattggtggcattcacaaagctaatagggacgtttatatcaagaaacatttctgtatatattgttgaattttagttgtacatatactttgtatgtttttgtcttctttcatatatggagtaaaagccacaaaacgctgaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1750 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
GeneID:1750 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:1750 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS
GeneID:1750 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
GeneID:1750 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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