LOCUS       NM_053281               2417 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens dachshund family transcription factor 2 (DACH2),
            transcript variant 1, mRNA.
ACCESSION   NM_053281
VERSION     NM_053281.3
KEYWORDS    RefSeq; MANE Select.
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 2417)
  AUTHORS   He,Y.D., Luo,Z.H., Yang,M., Ruan,X.X., Liu,S.Y., Wu,Z.Q.,
            Deng,W.M., Shao,C.K., Su,Z.L., He,D., Gao,X. and Li,L.Y.
  TITLE     Prospective validation of DACH2 as a novel biomarker for prediction
            of metastasis and prognosis in muscle-invasive urothelial carcinoma
            of the bladder
  JOURNAL   Biochem Biophys Res Commun 459 (3), 416-423 (2015)
   PUBMED   25744029
  REMARK    GeneRIF: DACH2 is an independent prognostic marker that can be used
            at initial diagnosis of urothelial carcinoma of the bladder to
            identify patients who have a high potential to develop metastasis.
REFERENCE   2  (bases 1 to 2417)
  AUTHORS   Zhang,Y., Liu,Y., Li,Y., Duan,Y., Zhang,K., Wang,J. and Dai,Y.
  TITLE     Exome sequencing identifies mutations in ABCD1 and DACH2 in two
            brothers with a distinct phenotype
  JOURNAL   BMC Med Genet 15, 105 (2014)
   PUBMED   25234129
  REMARK    GeneRIF: Exome sequencing in two brothers with distinct phenotype
            including congenital language disorder, growth retardation,
            intellectual disability and urinary and fecal incontinence,
            identifies missense mutations in ABCD1 and DACH2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2417)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 2417)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2417)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (bases 1 to 2417)
  AUTHORS   Poulin,F., Nobrega,M.A., Plajzer-Frick,I., Holt,A., Afzal,V.,
            Rubin,E.M. and Pennacchio,L.A.
  TITLE     In vivo characterization of a vertebrate ultraconserved enhancer
  JOURNAL   Genomics 85 (6), 774-781 (2005)
   PUBMED   15885503
REFERENCE   7  (bases 1 to 2417)
  AUTHORS   Bione,S., Rizzolio,F., Sala,C., Ricotti,R., Goegan,M.,
            Manzini,M.C., Battaglia,R., Marozzi,A., Vegetti,W., Dalpra,L.,
            Crosignani,P.G., Ginelli,E., Nappi,R., Bernabini,S., Bruni,V.,
            Torricelli,F., Zuffardi,O. and Toniolo,D.
  TITLE     Mutation analysis of two candidate genes for premature ovarian
            failure, DACH2 and POF1B
  JOURNAL   Hum Reprod 19 (12), 2759-2766 (2004)
   PUBMED   15459172
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2417)
  AUTHORS   Prueitt,R.L., Chen,H., Barnes,R.I. and Zinn,A.R.
  TITLE     Most X;autosome translocations associated with premature ovarian
            failure do not interrupt X-linked genes
  JOURNAL   Cytogenet Genome Res 97 (1-2), 32-38 (2002)
   PUBMED   12438735
  REMARK    GeneRIF: Most X;autosome translocations associated with premature
            ovarian failure do not interrupt X-linked genes. Only one of the
            six breakpoints disrupts a gene, DACH2.
REFERENCE   9  (bases 1 to 2417)
  AUTHORS   Davis,R.J., Shen,W., Sandler,Y.I., Heanue,T.A. and Mardon,G.
  TITLE     Characterization of mouse Dach2, a homologue of Drosophila
            dachshund
  JOURNAL   Mech Dev 102 (1-2), 169-179 (2001)
   PUBMED   11287190
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290596.1 and AF428101.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2008 this sequence version replaced NM_053281.2.
            
            Summary: This gene is one of two genes which encode a protein
            similar to the Drosophila protein dachshund, a transcription factor
            involved in cell fate determination in the eye, limb and genital
            disc of the fly. The encoded protein contains two characteristic
            dachshund domains: an N-terminal domain responsible for DNA binding
            and a C-terminal domain responsible for protein-protein
            interactions. This gene is located on the X chromosome and is
            subject to inactivation by DNA methylation. The encoded protein may
            be involved in regulation of organogenesis and myogenesis, and may
            play a role in premature ovarian failure. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290596.1, SRR1803614.110551.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437, SAMN03267750
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373125.9/ ENSP00000362217.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               AK290596.1         1-170
            171-2402            AF428101.1         1-2232
            2403-2417           AK290596.1         2403-2417
FEATURES             Location/Qualifiers
     source          1..2417
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.2"
     gene            1..2417
                     /gene="DACH2"
                     /note="dachshund family transcription factor 2"
                     /db_xref="GeneID:117154"
                     /db_xref="HGNC:HGNC:16814"
                     /db_xref="MIM:300608"
     exon            1..658
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..1970
                     /gene="DACH2"
                     /note="isoform a is encoded by transcript variant 1;
                     dachshund homolog 2"
                     /codon_start=1
                     /product="dachshund homolog 2 isoform a"
                     /protein_id="NP_444511.1"
                     /db_xref="CCDS:CCDS14455.1"
                     /db_xref="GeneID:117154"
                     /db_xref="HGNC:HGNC:16814"
                     /db_xref="MIM:300608"
                     /translation="MAVSASPVISATSSGAGVPGGLFRAEPLYSTPREPPRLTPNMIN
                     SFVVNNHSNSAGGGGRGNTNTNECRMVDMHGMKVASFLMDGQELICLPQVFDLFLKHL
                     VGGLHTVYTKLKRLDISPVVCTVEQVRILRGLGAIQPGVNRCKLITRKDFETLFTDCT
                     NARRKRQMTRKQAVNSSRPGRPPKRSLGVLQENARLLTHAVPGLLSPGLITPTGITAA
                     AMAEAMKLQKMKLMAMNTLQGNGSQNGTESEPDDLNSNTGGSESSWDKDKMQSPFAAP
                     GPQHGIAHAALAGQPGIGGAPTLNPLQQNHLLTNRLDLPFMMMPHPLLPVSLPPASVA
                     MAMNQMNHLNTIANMAAAAQIHSPLSRAGTSVIKERIPESPSPAPSLEENHRPGSQTS
                     SHTSSSVSSSPSQMDHHLERMEEVPVQIPIMKSPLDKIQLTPGQALPAGFPGPFIFAD
                     SLSSVETLLTNIQGLLKVALDNARIQEKQIQQEKKELRLELYREREIRENLERQLAVE
                     LQSRTTMQKRLKKEKKTKRKLQEALEFESKRREQVEQALKQATTSDSGLRMLKDTGIP
                     DIEIENNGTPHDSAAMQGGNYYCLEMAQQLYSA"
     exon            659..697
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            698..810
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            811..942
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1101
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1274
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1410
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1559
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1707
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1708..1854
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..1920
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2417
                     /gene="DACH2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2116
                     /gene="DACH2"
                     /note="major polyA site"
     regulatory      2397..2402
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DACH2"
                     /note="hexamer: AATAAA"
     polyA_site      2417
                     /gene="DACH2"
ORIGIN      
        1 actgtttgtt gagcttgagc gtgagccggc tgctgaagac ttgcgaacag ttcggagcca
       61 gcgagagcgc gccagagaga gcgagagtga gggagtgagt gcgaggggat ctagaggagt
      121 cagggcgaga aagcgagggc cggaggaccc acgatagaga cagagtgacc atggctgtct
      181 ccgcatctcc agtgatctct gcaacttcca gcggcgccgg cgtcccgggg ggcttattcc
      241 gggccgaacc cctgtactcg actcccagag agccccctcg tcttactcct aatatgatca
      301 atagtttcgt ggttaataac cacagcaaca gtgccggagg cggcggcagg ggcaacacca
      361 acaccaacga gtgccgcatg gtcgacatgc acgggatgaa ggtggcttcg ttcctgatgg
      421 acggccagga actgatctgc ctgccgcaag tctttgatct ttttctcaag cacctggtgg
      481 gaggcttgca cactgtgtac accaagctga agagactgga tatatccccc gtggtgtgta
      541 ctgttgagca ggtccggatc ctccgcgggc tgggggccat ccagcccggg gtaaaccgct
      601 gcaaactcat caccaggaaa gacttcgaaa ctttgttcac cgattgcacc aatgccagaa
      661 ggaagaggca aatgacaaga aaacaagctg ttaacagttc aagacccggc aggcccccta
      721 agcgttcttt gggagtgttg caggaaaatg cccgccttct gacccatgca gtcccaggcc
      781 tcttatcgcc aggacttatc actccgacag gtataacagc tgcagcgatg gctgaggcga
      841 tgaaacttca gaagatgaag cttatggcta tgaacactct tcagggaaat ggaagccaaa
      901 atgggaccga atcagagcct gatgatctta attctaacac aggtggaagt gaatcctcct
      961 gggataaaga taagatgcag tctccatttg ctgcacctgg accccaacat ggaattgctc
     1021 atgcagccct agctggccag ccaggcattg ggggtgctcc aaccctcaat ccactgcagc
     1081 agaaccacct gctaaccaat agactggatc tgccatttat gatgatgcct catcccctac
     1141 ttccagtcag cttacctcct gcatcagttg ccatggcaat gaatcagatg aaccatctca
     1201 atactattgc caacatggct gctgcagcac agattcacag tccactctcc agagctggta
     1261 cctctgttat aaaggagcgg atcccagaga gtccttctcc tgctccttct ctagaagaga
     1321 atcatcgtcc tgggagccag acctcttccc acaccagcag cagtgtgtcc agctctccct
     1381 ctcagatgga tcatcatttg gaaagaatgg aagaggtacc agttcaaatt ccaataatga
     1441 agtcaccctt ggacaagata cagctgactc ctgggcaggc attgcccgct ggattccctg
     1501 gaccattcat ttttgctgat agtctgtcct ccgtggagac tctgttgacc aacattcagg
     1561 gtctgctgaa agttgctttg gataatgctc gcatccagga gaagcagatt caacaagaaa
     1621 agaaggagct gcgactggag ctctatagag agagagaaat tagagaaaac cttgaaagac
     1681 aacttgcagt tgagcttcaa agcagaacta ctatgcaaaa gcgcctgaag aaggagaaaa
     1741 aaaccaagag aaaattgcag gaagccttgg aatttgaatc aaagcgccgg gagcaagtgg
     1801 agcaggcact taagcaagcc accactagtg acagtggcct gaggatgtta aaagatactg
     1861 gaattccaga tattgaaata gaaaacaatg ggactcctca tgatagtgct gctatgcaag
     1921 gaggtaacta ttactgttta gaaatggcac aacagttgta ttcagcctga aaggtcctcg
     1981 ctggctttac ataaatgaag atgcttgtga ttccagttta tctctgaaac tattcaacat
     2041 ggagttattt cagttttgtt tatcagcaaa gctttgttta ctgaaggagc tatttaatct
     2101 atgttacatt aaaaaagaaa cgcgtgtaca ttttaaaagc aatgatgtaa actttgttct
     2161 tgcattagac tgaccagttt aaaaatatga actaaaacct aatggctaaa gtaacttgac
     2221 catatttgat gcttttctat gctcatttca acttggcttt ttgtctttta aatttttaaa
     2281 aaatgcagta gtgtgttaga gactagaaag ttatatgtat ggtttccctg ttctactata
     2341 cataacgtta aagtacacct tctttgttaa aaatgtactt gctaaacttc agcgtaaata
     2401 aaaacatttt gactttg
//
