LOCUS       NM_012147               1380 bp    mRNA    linear   PRI 07-MAY-2013
DEFINITION  Homo sapiens double homeobox 2 (DUX2), mRNA.
ACCESSION   NM_012147
VERSION     NM_012147.4  GI:489406822
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 1380)
  AUTHORS   Dixit,M., Ansseau,E., Tassin,A., Winokur,S., Shi,R., Qian,H.,
            Sauvage,S., Matteotti,C., van Acker,A.M., Leo,O., Figlewicz,D.,
            Barro,M., Laoudj-Chenivesse,D., Belayew,A., Coppee,F. and Chen,Y.W.
  TITLE     DUX4, a candidate gene of facioscapulohumeral muscular dystrophy,
            encodes a transcriptional activator of PITX1
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 104 (46), 18157-18162 (2007)
   PUBMED   17984056
REFERENCE   2  (bases 1 to 1380)
  AUTHORS   Clapp,J., Mitchell,L.M., Bolland,D.J., Fantes,J., Corcoran,A.E.,
            Scotting,P.J., Armour,J.A. and Hewitt,J.E.
  TITLE     Evolutionary conservation of a coding function for D4Z4, the tandem
            DNA repeat mutated in facioscapulohumeral muscular dystrophy
  JOURNAL   Am. J. Hum. Genet. 81 (2), 264-279 (2007)
   PUBMED   17668377
REFERENCE   3  (bases 1 to 1380)
  AUTHORS   Beckers,M., Gabriels,J., van der Maarel,S., De Vriese,A.,
            Frants,R.R., Collen,D. and Belayew,A.
  TITLE     Active genes in junk DNA? Characterization of DUX genes embedded
            within 3.3 kb repeated elements
  JOURNAL   Gene 264 (1), 51-57 (2001)
   PUBMED   11245978
REFERENCE   4  (bases 1 to 1380)
  AUTHORS   Gabriels,J., Beckers,M.C., Ding,H., De Vriese,A., Plaisance,S., van
            der Maarel,S.M., Padberg,G.W., Frants,R.R., Hewitt,J.E., Collen,D.
            and Belayew,A.
  TITLE     Nucleotide sequence of the partially deleted D4Z4 locus in a
            patient with FSHD identifies a putative gene within each 3.3 kb
            element
  JOURNAL   Gene 236 (1), 25-32 (1999)
   PUBMED   10433963
REFERENCE   5  (bases 1 to 1380)
  AUTHORS   Ding,H., Beckers,M.C., Plaisance,S., Marynen,P., Collen,D. and
            Belayew,A.
  TITLE     Characterization of a double homeodomain protein (DUX1) encoded by
            a cDNA homologous to 3.3 kb dispersed repeated elements
  JOURNAL   Hum. Mol. Genet. 7 (11), 1681-1694 (1998)
   PUBMED   9736770
REFERENCE   6  (bases 1 to 1380)
  AUTHORS   Lee,J.H., Goto,K., Matsuda,C. and Arahata,K.
  TITLE     Characterization of a tandemly repeated 3.3-kb KpnI unit in the
            facioscapulohumeral muscular dystrophy (FSHD) gene region on
            chromosome 4q35
  JOURNAL   Muscle Nerve Suppl 2, S6-S13 (1995)
   PUBMED   7739628
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U85056.1 and AC126281.3.
            On May 7, 2013 this sequence version replaced gi:312222676.
            
            Summary: The human genome contains hundreds of repeats of the
            3.3-kb family in regions associated with heterochromatin. The DUX
            gene family, including DUX2, resides within these 3.3-kb repeated
            elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM
            606009).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 5' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-404               U85056.1           26822-27225
            405-1380            AC126281.3         1-976
FEATURES             Location/Qualifiers
     source          1..1380
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..1380
                     /gene="DUX2"
                     /note="double homeobox 2"
                     /db_xref="GeneID:26583"
                     /db_xref="HGNC:3080"
                     /db_xref="MIM:611442"
     exon            1..1380
                     /gene="DUX2"
                     /inference="alignment:Splign:1.39.8"
     variation       19
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368240410"
     variation       44
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74190113"
     variation       60
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372104825"
     variation       62
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375184221"
     variation       92
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368855208"
     variation       95
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371570332"
     CDS             98..1372
                     /gene="DUX2"
                     /codon_start=1
                     /product="putative double homeobox protein 2"
                     /protein_id="NP_036279.3"
                     /db_xref="GI:489406823"
                     /db_xref="GeneID:26583"
                     /db_xref="HGNC:3080"
                     /db_xref="MIM:611442"
                     /translation="

MALPTPSDSTLPAEARGRGRRRRLVWTPSQSEALRACFERNPYPGIATRERLAQAIGIPEPRVQIWFQNERSRQLRQHRRESRPWPGRRGPPEGRRKRTAVTGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHPGQGGRAPAQAGGLCSAAPGGGHPAPSWVAFAHTGEWGTGLPAPHVPCAPGALPQGAFVSQAARAAPALQPSQAATAEGVSQPAPARGDFAYAAPAPPDGALSHPQAPRWPPHPGKSREDRDPQRDGLPGPCAVAQPGPAQAGPQGQGVLAPPTSQGSPWWGWGRGPQVAGAAWEPQAGAAPPPQPAPPDASASARQGQMQGIPAPSQALQEPAPWSALPCGLLLDELLASPEFLQQAQPLLETEAPGELEASEEAASLEAPLSEEEYRALLEEL

"
     misc_feature    170..331
                     /gene="DUX2"
                     /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:238039"
     misc_feature    order(170..172,290..292,299..304,311..313)
                     /gene="DUX2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     misc_feature    order(173..175,224..226,242..244,281..283,287..292,
                     299..304,308..316,320..325)
                     /gene="DUX2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    401..544
                     /gene="DUX2"
                     /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:238039"
     misc_feature    order(449..451,467..469,506..508,512..517,524..529,
                     533..541)
                     /gene="DUX2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(515..517,524..529,536..538)
                     /gene="DUX2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     variation       115
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377281267"
     variation       121
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369890319"
     variation       265
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373313710"
     variation       273
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377342046"
     variation       280
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369518035"
     variation       282
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373401502"
     variation       309
                     /gene="DUX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375933403"
     variation       315
                     /gene="DUX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370237251"
     variation       398
                     /gene="DUX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373717342"
     variation       434
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376523261"
     variation       517
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371522577"
     variation       519
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374422515"
     variation       601
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368570428"
     variation       607
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371894468"
     variation       616
                     /gene="DUX2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:375369914"
     variation       633
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367917189"
     variation       646
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367790695"
     variation       649
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150358299"
     variation       652
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200420540"
     variation       661
                     /gene="DUX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142711720"
     variation       668
                     /gene="DUX2"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:373099037"
     variation       674
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150679466"
     variation       676
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200169628"
     variation       680
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201762566"
     variation       685
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:144210490"
     variation       698
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:79698427"
     variation       714
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:74498055"
     variation       719
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369897201"
     variation       725
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77415479"
     variation       732
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373088397"
     variation       802
                     /gene="DUX2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142340568"
     variation       806
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375051727"
     variation       814
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147855097"
     variation       881
                     /gene="DUX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369197099"
     variation       912
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372708824"
     variation       1021
                     /gene="DUX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375697061"
     variation       1025
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370109036"
     variation       1037
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373965889"
     variation       1045
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376923183"
     variation       1095
                     /gene="DUX2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200432415"
     variation       1312
                     /gene="DUX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201393880"
ORIGIN      

acctgccgcagtgcacagtccggctgaggtgcacgggagcccgccggcctctctctgcccgcgtccgtccgtgaaattccggccggggctcaccgcgatggccctcccgacaccctcggacagcaccctccccgcggaagcccggggacgaggacggcgacggagactcgtttggaccccgagccaaagcgaggccctgcgagcctgctttgagcggaacccgtacccgggcatcgccaccagagaacggctggcccaggccatcggcattccggagcccagggtccagatttggtttcagaatgagaggtcacgccagctgaggcagcaccggcgggaatctcggccctggcccgggagacgcggcccgccagaaggccggcgaaagcggaccgccgtcaccggatcccagaccgccctgctcctccgagcctttgagaaggatcgctttccaggcatcgccgcccgggaggagctggccagagagacgggcctcccggagtccaggattcagatctggtttcagaatcgaagggccaggcacccgggacagggtggcagggcgcccgcgcaggcaggcggcctgtgcagcgcggcccccggcgggggtcaccctgctccctcgtgggtcgccttcgcccacaccggcgagtggggaacggggcttcccgcaccccacgtgccctgcgcgcctggggctctcccacagggggctttcgtgagccaggcagcgagggccgcccccgcgctgcagcccagccaggccgcgacggcagagggggtctcccaacctgccccggcgcgcggggatttcgcctacgccgccccggctcctccggacggggcgctctcccaccctcaggctcctcggtggcctccgcacccgggcaaaagccgggaggaccgggacccgcagcgcgacggcctgccgggcccctgcgcggtggcacagcctgggcccgctcaagcggggccgcagggccaaggggtgcttgcgccacccacgtcccaggggagtccgtggtggggctggggccggggtccccaggtcgccggggcggcgtgggaaccccaagccggggcagctccacctccccagcccgcgcccccggacgcctccgcctccgcgcggcaggggcagatgcaaggcatcccggcgccctcccaggcgctccaggagccggcgccctggtctgcactcccctgcggcctgctgctggatgagctcctggcgagcccggagtttctgcagcaggcgcaacctctcctagaaacggaggccccgggggagctggaggcctcggaagaggccgcctcgctggaagcacccctcagcgaggaagaataccgggctctgctggaggagctttaggacgcggg

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:26583 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:26583 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:26583 -> Cellular component: GO:0005634 [nucleus] evidence: IEA