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2024-03-28 23:44:04, 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:

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

by @meso_cacase at DBCLS
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