GGRNA | NM_004405.3

LOCUS       NM_004405               2308 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens distal-less homeobox 2 (DLX2), mRNA.
ACCESSION   NM_004405
VERSION     NM_004405.3  GI:84043958
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 2308)
  AUTHORS   McKinsey,G.L., Lindtner,S., Trzcinski,B., Visel,A.,
            Pennacchio,L.A., Huylebroeck,D., Higashi,Y. and Rubenstein,J.L.
  TITLE     Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the
            fate switch between cortical and striatal interneurons
  JOURNAL   Neuron 77 (1), 83-98 (2013)
   PUBMED   23312518
  REMARK    GeneRIF: Dlx2 (and Dlx1) are required to generate cortical
            interneurons in the medial ganglionic eminence.
REFERENCE   2  (bases 1 to 2308)
  AUTHORS   Starkova,J., Gadgil,S., Qiu,Y.H., Zhang,N., Hermanova,I.,
            Kornblau,S.M. and Drabkin,H.A.
  TITLE     Up-regulation of homeodomain genes, DLX1 and DLX2, by FLT3
            signaling
  JOURNAL   Haematologica 96 (6), 820-828 (2011)
   PUBMED   21357706
  REMARK    GeneRIF: These findings suggest that alterations in DLX1/2
            contribute to the biological consequences of FLT3 activation.
REFERENCE   3  (bases 1 to 2308)
  AUTHORS   Lee,S.Y., Jeon,H.M., Kim,C.H., Ju,M.K., Bae,H.S., Park,H.G.,
            Lim,S.C., Han,S.I. and Kang,H.S.
  TITLE     Homeobox gene Dlx-2 is implicated in metabolic stress-induced
            necrosis
  JOURNAL   Mol. Cancer 10, 113 (2011)
   PUBMED   21917150
  REMARK    GeneRIF: Dlx-2 may be involved in tumor progression via the
            regulation of metabolic stress-induced necrosis
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2308)
  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 expressed DLX2.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2308)
  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   6  (bases 1 to 2308)
  AUTHORS   McGuinness,T., Porteus,M.H., Smiga,S., Bulfone,A., Kingsley,C.,
            Qiu,M., Liu,J.K., Long,J.E., Xu,D. and Rubenstein,J.L.
  TITLE     Sequence, organization, and transcription of the Dlx-1 and Dlx-2
            locus
  JOURNAL   Genomics 35 (3), 473-485 (1996)
   PUBMED   8812481
  REMARK    GeneRIF: provides the sequence of human DLX2 and compares it to the
            murine gene.
REFERENCE   7  (bases 1 to 2308)
  AUTHORS   Qiu,M., Bulfone,A., Martinez,S., Meneses,J.J., Shimamura,K.,
            Pedersen,R.A. and Rubenstein,J.L.
  TITLE     Null mutation of Dlx-2 results in abnormal morphogenesis of
            proximal first and second branchial arch derivatives and abnormal
            differentiation in the forebrain
  JOURNAL   Genes Dev. 9 (20), 2523-2538 (1995)
   PUBMED   7590232
  REMARK    GeneRIF: results in mutated mice suggest that Dlx2 controls
            development of branchial arches and the forebrian, suggesting a
            role in craniofacil evolution
REFERENCE   8  (bases 1 to 2308)
  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   9  (bases 1 to 2308)
  AUTHORS   Selski,D.J., Thomas,N.E., Coleman,P.D. and Rogers,K.E.
  TITLE     The human brain homeogene, DLX-2: cDNA sequence and alignment with
            the murine homologue
  JOURNAL   Gene 132 (2), 301-303 (1993)
   PUBMED   7901126
REFERENCE   10 (bases 1 to 2308)
  AUTHORS   Ozcelik,T., Porteus,M.H., Rubenstein,J.L. and Francke,U.
  TITLE     DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to
            conserved regions on human and mouse chromosomes 2
  JOURNAL   Genomics 13 (4), 1157-1161 (1992)
   PUBMED   1354641
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE905163.1, AC104801.4 and
            AA912071.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 29, 2005 this sequence version replaced gi:6996003.
            
            Summary: Many vertebrate homeo box-containing genes have been
            identified on the basis of their sequence similarity with
            Drosophila developmental genes. Members of the Dlx gene family
            contain a homeobox that is related to that of Distal-less (Dll), a
            gene expressed in the head and limbs of the developing fruit fly.
            The Distal-less (Dlx) family of genes comprises at least 6
            different members, DLX1-DLX6. The DLX proteins are postulated to
            play a role in forebrain and craniofacial development. This gene is
            located in a tail-to-tail configuration with another member of the
            gene family on the long arm of chromosome 2. [provided by RefSeq,
            Jul 2008].
            
            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 :: BC032558.1, L07919.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025091 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-203               BE905163.1         1-203
            204-612             AC104801.4         7655-8063           c
            613-797             AC104801.4         6978-7162           c
            798-2268            AC104801.4         4990-6460           c
            2269-2308           AA912071.1         1-40                c
FEATURES             Location/Qualifiers
     source          1..2308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32"
     gene            1..2308
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /note="distal-less homeobox 2"
                     /db_xref="GeneID:1746"
                     /db_xref="HGNC:2915"
                     /db_xref="HPRD:00527"
                     /db_xref="MIM:126255"
     exon            1..612
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    114..116
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /note="upstream in-frame stop codon"
     variation       177
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:743605"
     CDS             213..1199
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /note="distal-less homeo box 2"
                     /codon_start=1
                     /product="homeobox protein DLX-2"
                     /protein_id="NP_004396.1"
                     /db_xref="GI:4758168"
                     /db_xref="CCDS:CCDS2248.1"
                     /db_xref="GeneID:1746"
                     /db_xref="HGNC:2915"
                     /db_xref="HPRD:00527"
                     /db_xref="MIM:126255"
                     /translation="

MTGVFDSLVADMHSTQIAASSTYHQHQQPPSGGGAGPGGNSSSSSSLHKPQESPTLPVSTATDSSYYTNQQHPAGGGGGGGSPYAHMGSYQYQASGLNNVPYSAKSSYDLGYTAAYTSYAPYGTSSSPANNEPEKEDLEPEIRIVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNRRSKFKKMWKSGEIPSEQHPGASASPPCASPPVSAPASWDFGVPQRMAGGGGPGSGGSGAGSSGSSPSSAASAFLGNYPWYHQTSGSASHLQATAPLLHPTQTPQPHHHHHHHGGGGAPVSAGTIF

"
     misc_feature    363..608
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /note="Homeobox protein distal-less-like N terminal;
                     Region: DLL_N; pfam12413"
                     /db_xref="CDD:152847"
     misc_feature    669..845
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /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(669..683,687..689,738..740,756..758,795..797,
                     801..806,813..818,822..830,834..839)
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(675..677,684..686,804..806,813..818,825..827)
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    906..908
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q07687.2); phosphorylation site"
     exon            613..797
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /inference="alignment:Splign:1.39.8"
     variation       737
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2228184"
     exon            798..2304
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /inference="alignment:Splign:1.39.8"
     STS             1864..2079
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /standard_name="RH68996"
                     /db_xref="UniSTS:45911"
     polyA_signal    1989..1994
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
     polyA_site      2009
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_signal    2282..2287
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
     polyA_site      2304
                     /gene="DLX2"
                     /gene_synonym="TES-1; TES1"
ORIGIN

aagaggatgcgaccagaggcagctgtcccgagcagcgcacggtgatcgcctcccccggaggaggaggcgcctagacggttgcctcctttcttgtttccccaccaccacccccgtaattacattggctgctggaggggaccgggagagacagaggaggcgcctggcttcccccgcacgcccgccacctctgctctttcccgtctcgggccaggatgactggagtctttgacagtctagtggctgatatgcactcgacccagatcgccgcctccagcacgtaccaccagcaccagcagcccccgagcggcggcggcgccggcccgggtggcaacagcagcagcagcagcagcctccacaagccccaggagtcgcccacccttccggtgtccaccgccaccgacagcagctactacaccaaccagcagcacccggcgggcggcggcggcggcgggggctcgccctacgcgcacatgggttcctaccagtaccaagccagcggcctcaacaacgtcccttactccgccaagagcagctatgacctgggctacaccgccgcctacacctcctacgctccctatggaaccagttcgtccccagccaacaacgagcctgagaaggaggaccttgagcctgaaattcggatagtgaacgggaagccaaagaaagtccggaaaccccgcaccatctactccagtttccagctggcggctcttcagcggcgtttccaaaagactcaatacttggccttgccggagcgagccgagctggcggcctctctgggcctcacccagactcaggtcaaaatctggttccagaaccgccggtccaagttcaagaagatgtggaaaagtggtgagatcccctcggagcagcaccctggggccagcgcttctccaccttgtgcttcgccgccagtctcagcgccggcctcctgggactttggtgtgccgcagcggatggcgggcggcggtggtccgggcagtggcggcagcggcgccggcagctcgggctccagcccgagcagcgcggcctcggcttttctgggcaactacccctggtaccaccagacctcgggatccgcctcacacctgcaggccacggcgccgctgctgcaccccactcagaccccgcagccgcatcaccaccaccaccatcacggcggcgggggcgccccggtgagcgcggggacgattttctaaccccagggagaactcgccagagactgagagcagagaccacttatcctcattgcttaccccgagccggggttccctcctcccggcccgctgccgccacccacctctcctgcaggctgcgacctgcagtggcccgtctcaggccctgctcactcccggggccaccaaacgggcccctctctcgggggaaccggacagcagcttggcaaaggcctccctaaaaggccgcatttctgacctgagccccgggtctcggctgtttcgagccccgcctcggacttgccttccctcccctccgggtgagcctgtctggcgccttcctcgccccgggctgagagctgggtcccgggagatggaagcctcccaggcgcgcgaggcttcccgggcgctctgaggcttctttctcctcgcccgctcccctgggctcagctcggacgctgcagttattgacctcccggtcccgcctgcccgccctcccccacgtggccccttgacccgggcggccccgccgcttctttccttcctgcagttcccagccctcggagcccccatcccttatcttacccccaccgcgctcccccaggagcgctccctcagctctctcctcatccatcaccagtggagtttttttatttgttatttttttaaaagtttaggtgcctttgcggatgacctcattttgacgttgaaaaaatgattttttaatatgtgaacactgcaaaaatgtgtttaaattatcttttttaaaacctattcaggattattagcctggacttggacacagagtttgtaaataaaggtgtctgtgcagattttcccactgatttatttgtataaaaatactcatcttttcagacttttttgtaaacccccagttgtgaaaactgcagtttagcagtgacctcagcaacccctcctttttattttttcctttaaaaacatttcagttaaattaagctactgatttggatttgttttatcgtatcctaaagtctttgttgttgaaatgaaaggtattttggggttatttattatgaaaacaacatgctcttaatgttgattttacaatatgaagagattatttaaataaattattgttttcattggaaaaa

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