LOCUS       NM_001080458            4252 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.
ACCESSION   NM_001080458 XM_292968
VERSION     NM_001080458.2
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 4252)
  AUTHORS   Wang,W.C., Hou,T.C., Kuo,C.Y. and Lai,Y.C.
  TITLE     Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic
            teratomas of the ovary identified by array comparative genomic
            hybridization may explain teratoma characteristics in
            chondrogenesis and osteogenesis
  JOURNAL   J Ovarian Res 17 (1), 129 (2024)
   PUBMED   38907278
  REMARK    GeneRIF: Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature
            cystic teratomas of the ovary identified by array comparative
            genomic hybridization may explain teratoma characteristics in
            chondrogenesis and osteogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4252)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4252)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   4  (bases 1 to 4252)
  AUTHORS   Divaris,K., Monda,K.L., North,K.E., Olshan,A.F., Lange,E.M.,
            Moss,K., Barros,S.P., Beck,J.D. and Offenbacher,S.
  TITLE     Genome-wide association study of periodontal pathogen colonization
  JOURNAL   J Dent Res 91 (7 Suppl), 21S-28S (2012)
   PUBMED   22699663
REFERENCE   5  (bases 1 to 4252)
  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 4252)
  AUTHORS   Limongi,M.Z., Pelliccia,F., Gaddini,L. and Rocchi,A.
  TITLE     Clustering of two fragile sites and seven homeobox genes in human
            chromosome region 2q31-->q32.1
  JOURNAL   Cytogenet Cell Genet 90 (1-2), 151-153 (2000)
   PUBMED   11060466
REFERENCE   7  (bases 1 to 4252)
  AUTHORS   Slavotinek,A., Schwarz,C., Getty,J.F., Stecko,O., Goodman,F. and
            Kingston,H.
  TITLE     Two cases with interstitial deletions of chromosome 2 and sex
            reversal in one
  JOURNAL   Am J Med Genet 86 (1), 75-81 (1999)
   PUBMED   10440834
REFERENCE   8  (bases 1 to 4252)
  AUTHORS   Sarfarazi,M., Akarsu,A.N. and Sayli,B.S.
  TITLE     Localization of the syndactyly type II (synpolydactyly) locus to
            2q31 region and identification of tight linkage to HOXD8 intragenic
            marker
  JOURNAL   Hum Mol Genet 4 (8), 1453-1458 (1995)
   PUBMED   7581388
REFERENCE   9  (bases 1 to 4252)
  AUTHORS   Rossi,E., Faiella,A., Zeviani,M., Labeit,S., Floridia,G.,
            Brunelli,S., Cammarata,M., Boncinelli,E. and Zuffardi,O.
  TITLE     Order of six loci at 2q24-q31 and orientation of the HOXD locus
  JOURNAL   Genomics 24 (1), 34-40 (1994)
   PUBMED   7896287
REFERENCE   10 (bases 1 to 4252)
  AUTHORS   D'Esposito,M., Morelli,F., Acampora,D., Migliaccio,E., Simeone,A.
            and Boncinelli,E.
  TITLE     EVX2, a human homeobox gene homologous to the even-skipped
            segmentation gene, is localized at the 5' end of HOX4 locus on
            chromosome 2
  JOURNAL   Genomics 10 (1), 43-50 (1991)
   PUBMED   1675198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009336.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 8, 2021 this sequence version replaced NM_001080458.1.
            
            Summary: This gene is located at the 5' end of the HOXD gene
            cluster on chromosome 2. The encoded protein is a homeobox
            transcription factor that is related to the protein encoded by the
            Drosophila even-skipped (eve) gene, a member of the pair-rule class
            of segmentation genes. A 117 kb microdeletion at the 5' end of the
            HOXD gene cluster, which includes this gene and the HOXD9-HOXD13
            genes, causes synpolydactyly, a dominantly inherited disease
            resulting in limb malformation. [provided by RefSeq, Sep 2009].
            
            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.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308618.5/ ENSP00000312385.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-613               AC009336.13        67339-67951         c
            614-885             AC009336.13        66167-66438         c
            886-4252            AC009336.13        61461-64827         c
FEATURES             Location/Qualifiers
     source          1..4252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..4252
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /note="even-skipped homeobox 2"
                     /db_xref="GeneID:344191"
                     /db_xref="HGNC:HGNC:3507"
                     /db_xref="MIM:142991"
     exon            1..613
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             187..1617
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /note="eve, even-skipped homeo box homolog 2; even-skipped
                     homeo box 2 (homolog of Drosophila eve)"
                     /codon_start=1
                     /product="homeobox even-skipped homolog protein 2"
                     /protein_id="NP_001073927.1"
                     /db_xref="CCDS:CCDS33333.1"
                     /db_xref="GeneID:344191"
                     /db_xref="HGNC:HGNC:3507"
                     /db_xref="MIM:142991"
                     /translation="MMERIRKEMILMERGLHSPTAGKRFSNLSNSAGNAVLEALENSQ
                     HPARLSPRLPSAPLHSALGELPAKGKFEIDTLFNLQHTGSESTVSSEISSAAESRKKP
                     GHYSEAAAEADMSSDVEVGCSALRSPGGLGAAQLKENNGKGYAESGSAAGTTTSASGS
                     GLGSLHGGSGGSGGSAALGGSGSGADQVRRYRTAFTREQIARLEKEFYRENYVSRPRR
                     CELAAALNLPETTIKVWFQNRRMKDKRQRLAMSWPHPADPSFYTYMMTHAAATGSLPY
                     PFHSHVPLHYYPHVGVTAAAAAAAASGAAAAASSPFATSIRPLDTFRALSHPYSRPEL
                     LCSFRHPGLYQAPAAAAGLNSAASAAAAAAAAAAAASSAAAAGAPPSGGSAPCSCLSC
                     HSSQSAAAAAAAAAAALGSRGGGGGGGGGGGGGGGGAGAGGGSDFGCSAAAPRSESGF
                     LPYSAAVLSKTAVSPPDQRDEAPLTR"
     exon            614..885
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            886..4252
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4232..4237
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /note="hexamer: AATAAA"
     polyA_site      4252
                     /gene="EVX2"
                     /gene_synonym="EVX-2"
                     /note="major polyA site"
ORIGIN      
        1 aggatgtatg ggtcattttg accagtcatt ccctcgctct ggcatcccac aatttttccg
       61 cctccctccg aaagcgataa taatatttag aggcgttcgc tggggctgaa tgagaattag
      121 ccctaggcgc agcctatcat taggacggga cagcagggcc actgtgacat ttttaagaaa
      181 gctgagatga tggaaagaat aagaaaagag atgattctga tggagagagg gctgcacagc
      241 cctacggcgg gcaagagatt ctccaatttg tccaactcgg ctggcaatgc tgtgctcgag
      301 gccctggaaa attcgcagca cccggctcgc ctaagcccgc gcctgccgtc tgcccccctg
      361 cacagcgctc tgggagaact ccccgccaag ggcaaattcg aaatagacac tttgttcaac
      421 ctgcagcaca cgggcagcga aagcaccgtc tcctccgaaa tctcctccgc cgccgagagc
      481 cgcaagaagc cgggccatta ttcagaggcg gccgctgagg ccgacatgag cagcgacgtg
      541 gaggtgggct gctccgcgct tcgctccccc gggggcctcg gcgccgctca gcttaaggaa
      601 aacaatggca aagggtacgc agagagcggc tcggctgccg gcaccacgac gtcggcgtcg
      661 ggctcaggcc tcggaagcct gcatggaggc agcggaggca gcggcgggag cgcggcgctg
      721 ggtggctccg gctctggcgc ggatcaagtg cggcgctacc gtacggcgtt cacccgcgag
      781 cagatcgcgc gcctggagaa ggagttctac cgggagaact atgtgtcgcg gccccgccgg
      841 tgcgagctgg ccgcggcact caacctgccc gaaaccacca tcaaggtgtg gttccagaac
      901 cggcgcatga aggacaagcg gcagcgcctg gccatgtcct ggccgcaccc agccgacccc
      961 agcttctaca cctacatgat gacgcacgcg gccgccaccg gaagcctgcc ctaccccttc
     1021 cactcgcacg tgccgctgca ctactacccg cacgtgggcg tcacggcggc ggcggccgcg
     1081 gctgcagcct caggcgcggc ggccgcggct tcgtcgccct tcgctacttc catccggcca
     1141 ctggacacct tccgcgccct ctcgcacccc tactctcggc cggagctgct gtgtagcttc
     1201 cgccaccctg gtctctacca ggctcccgcg gccgccgcgg ggctcaacag cgcggcctct
     1261 gccgcggcag ccgcggcagc cgcagcggct gcggcctcct cggcggcggc ggccggcgcg
     1321 ccccccagcg gcggctctgc accctgctcg tgcctcagtt gccacagcag tcagtcggcg
     1381 gcggcagccg cggcagcagc tgccgcagcc ctgggttccc ggggtggcgg tggcggcggc
     1441 ggtggtggtg gtggcggcgg cggcgggggc gccggggccg ggggaggctc ggacttcggc
     1501 tgcagcgcgg cggcgccgcg ttccgagagc ggcttcctgc cctactcggc cgcggtgctt
     1561 agtaagacgg ccgtgagccc gccggaccag agggacgagg ctccgctcac cagataacta
     1621 cgtcgccacc gccagggggc cgcgcccgcc tctctgagtg tgcccgggag tcccctgtgc
     1681 gccccctgag ccctccgcgc gttgcccgct gctgccgctg ccgccagggg gcgccccggg
     1741 gcgcgggagg ccgaagggaa cctgctccga attgggggag aaggagcagg cgcaaaagcc
     1801 tggcgggcat ccccctaaat tatttctatt tttgtatttg ccacccagcc gtctgccctt
     1861 ctctctcttt tctggctccc gggacccact ttccacctct gtcctgagcg cttggtttcc
     1921 caaagaccaa cccctcgccc cctaagctag tcctggctgt gcactctcag gtccgggttg
     1981 cttggctgaa cggcgtggcc cgaagcaacg gagaaccaca acaaagacag agggggatgc
     2041 tgtgcgctgg tgcttggggg cgggggagga gtcgccccgg aggtttctcg ctgctgctgt
     2101 ttttcttcct tttctttcaa cgagggtggg ggaggtggca aacgttcttt cagcctgagc
     2161 ttattaggga ccctgcccga agagtgcggg agaacggagg tctgataagg ccgggaggac
     2221 ggatggagag cgtgggcagc ggtggttgtt tgtgagattg tttactacgt tcaggagcaa
     2281 ggcgggtagg gatgtggccg ccttccccgg gaaggacaaa gccgaggtgc tggaaggggt
     2341 ggccgttgcg ccgcctcctt ttcggtccaa cacctttctc tcttttggtc tttggtttca
     2401 gtgctgatgg aatggaagca tcttgcatat tttatgcaaa aagtgatggc aaaagaggtt
     2461 gccacggcca gggaagggaa aggaagggag ttggggtagg ggtaagactg atagatcgct
     2521 gtagtatttg gagaggcgtt ttcagctcag ttttccaact accgggttcc actcgatctg
     2581 ggaaatactt gaatctctag atatattaat attatcctaa agcatttcct tagacacttt
     2641 tctaagttag aactctctat gtccctcgtc cccttctctc ctcgctttcc ttttcctcgg
     2701 gtgaaatggt tcttggcata tttctcacgc atgtctattg cgccttcgcc tctgcaaagc
     2761 caccgctggg ttgctgagac ccgctctgcc aacccggcta ctggaggggt ttccttgaac
     2821 ttgaagaaag gtacatcaaa acccactagt gttaactgcc acgtcaagtt tgatgctaat
     2881 aatgtgcaga ttatgacgaa aattgccaat catgctctct gatggacctc ctttgaatgt
     2941 ggaattggag aaaagttccc cgcacggaga cctgctgtca agtactaaca acccgctaag
     3001 ggaagtcatt aggagagacg gataagagac tcggtacata aaacattgtt cttggtgcat
     3061 agaatgtatg ttatttaatg ttatctctgt tacctgaagt gatttcgcag aagaaagcca
     3121 cgttcttatc atctcaattg ccgattttca ttttggtaac ttggacgccc tgggtagact
     3181 tttctctgtt aagttgatat tccaccagtg tgaacagcct cattaaatca agcccagata
     3241 tttccataat gctccccgca gagccacttg gctcctcaca taatgagatt ttctgaagag
     3301 ttgaagccct aaaataactt gctagtgcat gtttagaccc agcgaagtgg gtatgtgtgt
     3361 gtacgtgtat taaaatgtag gtaggctacc tacatgtgtt tgtgtatgtg tatatatatg
     3421 tatatgtatg tatatgcata tatatatccg tgctcttaaa tacatatgta agagatacac
     3481 acatattcat gtatacatac acattggcac tattttctgt ggtttatttc agatttgtgt
     3541 cctgccatca tattgttatt ttaaagacac tggattttaa aatatcattt cctaaatata
     3601 ggctttcagt aaacttttga aagaattagt tttccaggag aaattatttc catcaaatgg
     3661 aaaatacata aaggggaaac agtatttcga aattcctggg gtctattaaa atattaccat
     3721 aaaatattag agaactttcc aatgaaatag caatgatcta aaacttaagt ttttgttttt
     3781 gtttttaaaa acatgagact acttatgtaa aatattgatt ataccagctc ttattcactg
     3841 agtttacatt tttaaaaata ttaatatata atttaaggct aaataaaata aaccaaaata
     3901 tggtaccctt tatcagcttt acctatttag attgttaaag tcctttgtta tgatcagcta
     3961 acagatgtat ataaggtact ttaggcagta atgtttacat ttcccccaaa aaatatatat
     4021 gattgatgag aacgctggtt ggtaaaatta acataaattc atcatttgtt gggtccattg
     4081 gatctggtta ttatattgaa ataaaattgt aaataaagtc ttcgtgcttt aaatattgct
     4141 ggatgtatga actcactgta agatatttta caaatgtgca ataattataa agccttgtat
     4201 attacgttat ttattgtgtt tggtcatgta aaataaatgt tatttaaatc aa
//
