LOCUS       NM_004098               2595 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant
            1, mRNA.
ACCESSION   NM_004098
VERSION     NM_004098.4
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 2595)
  AUTHORS   Zhou,X., Dong,S., Zhou,Y., He,Z., Zhang,Z., Liao,L., Zou,B.,
            Zheng,X., Peng,K. and Duan,X.
  TITLE     EMX2 inhibits clear cell renal cell carcinoma progress via
            modulating Akt/FOXO3a pathway
  JOURNAL   Mol Carcinog 63 (5), 951-961 (2024)
   PUBMED   38362840
  REMARK    GeneRIF: EMX2 inhibits clear cell renal cell carcinoma progress via
            modulating Akt/FOXO3a pathway.
REFERENCE   2  (bases 1 to 2595)
  AUTHORS   Santo,M., Rigoldi,L., Falcone,C., Tuccillo,M., Calabrese,M.,
            Martinez-Cerdeno,V. and Mallamaci,A.
  TITLE     Spatial control of astrogenesis progression by cortical
            arealization genes
  JOURNAL   Cereb Cortex 33 (6), 3107-3123 (2023)
   PUBMED   35818636
  REMARK    GeneRIF: Spatial control of astrogenesis progression by cortical
            arealization genes.
REFERENCE   3  (bases 1 to 2595)
  AUTHORS   Jimenez-Garcia,M.P., Lucena-Cacace,A., Otero-Albiol,D. and
            Carnero,A.
  TITLE     Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT pathway
            activation in sarcomagenesis
  JOURNAL   J Exp Clin Cancer Res 40 (1), 247 (2021)
   PUBMED   34364391
  REMARK    GeneRIF: Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT
            pathway activation in sarcomagenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2595)
  AUTHORS   Jimenez-Garcia,M.P., Lucena-Cacace,A., Otero-Albiol,D. and
            Carnero,A.
  TITLE     Regulation of sarcomagenesis by the empty spiracles homeobox genes
            EMX1 and EMX2
  JOURNAL   Cell Death Dis 12 (6), 515 (2021)
   PUBMED   34016958
  REMARK    GeneRIF: Regulation of sarcomagenesis by the empty spiracles
            homeobox genes EMX1 and EMX2.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2595)
  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   6  (bases 1 to 2595)
  AUTHORS   Guerrini,R. and Carrozzo,R.
  TITLE     Epileptogenic brain malformations: clinical presentation,
            malformative patterns and indications for genetic testing
  JOURNAL   Seizure 11 Suppl A, 532-43 (2002)
   PUBMED   12185771
  REMARK    GeneRIF: EMX2 gene has been reported in schezencephaly (cleft
            brain) including epilepsy in some patients.
            Review article
REFERENCE   7  (bases 1 to 2595)
  AUTHORS   Noonan,F.C., Mutch,D.G., Ann Mallon,M. and Goodfellow,P.J.
  TITLE     Characterization of the homeodomain gene EMX2: sequence
            conservation, expression analysis, and a search for mutations in
            endometrial cancers
  JOURNAL   Genomics 76 (1-3), 37-44 (2001)
   PUBMED   11549315
REFERENCE   8  (bases 1 to 2595)
  AUTHORS   Brunelli,S., Faiella,A., Capra,V., Nigro,V., Simeone,A., Cama,A.
            and Boncinelli,E.
  TITLE     Germline mutations in the homeobox gene EMX2 in patients with
            severe schizencephaly
  JOURNAL   Nat Genet 12 (1), 94-96 (1996)
   PUBMED   8528262
REFERENCE   9  (bases 1 to 2595)
  AUTHORS   Kastury,K., Druck,T., Huebner,K., Barletta,C., Acampora,D.,
            Simeone,A., Faiella,A. and Boncinelli,E.
  TITLE     Chromosome locations of human EMX and OTX genes
  JOURNAL   Genomics 22 (1), 41-45 (1994)
   PUBMED   7959790
REFERENCE   10 (bases 1 to 2595)
  AUTHORS   Simeone,A., Gulisano,M., Acampora,D., Stornaiuolo,A., Rambaldi,M.
            and Boncinelli,E.
  TITLE     Two vertebrate homeobox genes related to the Drosophila empty
            spiracles gene are expressed in the embryonic cerebral cortex
  JOURNAL   EMBO J 11 (7), 2541-2550 (1992)
   PUBMED   1352754
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF301598.1 and AI701984.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004098.3.
            
            Summary: This gene encodes a homeobox-containing transcription
            factor that is the homolog to the 'empty spiracles' gene in
            Drosophila. Research on this gene in humans has focused on its
            expression in three tissues: dorsal telencephalon, olfactory
            neuroepithelium, and urogenetial system. It is expressed in the
            dorsal telencephalon during development in a low rostral-lateral to
            high caudal-medial gradient and is proposed to pattern the
            neocortex into defined functional areas. It is also expressed in
            embryonic and adult olfactory neuroepithelia where it complexes
            with eukaryotic translation initiation factor 4E (eIF4E) and
            possibly regulates mRNA transport or translation. In the developing
            urogenital system, it is expressed in epithelial tissues and is
            negatively regulated by HOXA10. Alternative splicing results in
            multiple transcript variants encoding distinct proteins.[provided
            by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AL161811.1, AF301598.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000553456.5/ ENSP00000450962.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2591              AF301598.1         302-2892
            2592-2595           AI701984.1         13-16               c
FEATURES             Location/Qualifiers
     source          1..2595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.11"
     gene            1..2595
                     /gene="EMX2"
                     /note="empty spiracles homeobox 2"
                     /db_xref="GeneID:2018"
                     /db_xref="HGNC:HGNC:3341"
                     /db_xref="MIM:600035"
     exon            1..928
                     /gene="EMX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             523..1281
                     /gene="EMX2"
                     /note="isoform 1 is encoded by transcript variant 1; empty
                     spiracles-like protein 2; homeobox protein EMX2; empty
                     spiracles homolog 2"
                     /codon_start=1
                     /product="homeobox protein EMX2 isoform 1"
                     /protein_id="NP_004089.1"
                     /db_xref="CCDS:CCDS7601.1"
                     /db_xref="GeneID:2018"
                     /db_xref="HGNC:HGNC:3341"
                     /db_xref="MIM:600035"
                     /translation="MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPI
                     NPFLNGFHSAAAAAAGRGVYSNPDLVFAEAVSHPPNPAVPVHPVPPPHALAAHPLPSS
                     HSPHPLFASQQRDPSTFYPWLIHRYRYLGHRFQGNDTSPESFLLHNALARKPKRIRTA
                     FSPSQLLRLEHAFEKNHYVVGAERKQLAHSLSLTETQVKVWFQNRRTKFKRQKLEEEG
                     SDSQQKKKGTHHINRWRIATKQASPEEIDVTSDD"
     exon            929..1113
                     /gene="EMX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..2595
                     /gene="EMX2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2570..2575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMX2"
                     /note="hexamer: AATAAA"
     polyA_site      2595
                     /gene="EMX2"
                     /note="major polyA site"
ORIGIN      
        1 gcacaacttg tgaagaagcg aacacttcca tggattgtcc ttggacttag ggcgccctgc
       61 ccgccttttg cagaggagaa aaaacttttt tttttttttg cctcccccga gaactttccc
      121 cccttctcct ccctgcctct aactccgatc cccccacgcc atctcgccaa aaaaaaaaaa
      181 aaaaaaaaaa aagaaaaaaa aagaaaaaaa aagaaaaaaa attaccccaa tccacgcctg
      241 caaattcttc tggaaggatt ttcccccctc tcttcaggtt gggcgcgttt ggtgcaagat
      301 tctcgggatc ctcggctttg cctctccctc tccctccccc ctcctttcct ttttcctttc
      361 ctttcctttc tttcttcctt tccttccccc cacccccacc cccaccccaa acaaacgagt
      421 ccccaattct cgtccgtcct cgccgcgggc agcgggcggc ggaggcagcg tgcggcggtc
      481 gccaggagct gggagcccag ggcgcccgct cctcggcgca gcatgttcca gccggcgccc
      541 aagcgctgct tcaccatcga gtcgctggtg gccaaggaca gtcccctgcc cgcctcgcgc
      601 tccgaggacc ccatccgtcc cgcggcactc agctacgcta actccagccc cataaatccg
      661 ttcctcaacg gcttccactc ggccgccgcc gccgccgccg gtaggggcgt ctactccaac
      721 ccggacttgg tgttcgccga ggcggtctcg cacccgccca accccgccgt gccagtgcac
      781 ccggtgccgc cgccgcacgc cctggccgcc caccccctac cctcctcgca ctcgccacac
      841 cccctattcg cctcgcagca gcgggatccg tccaccttct acccctggct catccaccgc
      901 taccgatatc tgggtcatcg cttccaaggg aacgacacta gccccgagag tttccttttg
      961 cacaacgcgc tggcccgaaa gcccaagcgg atccgaaccg ccttctcccc gtcccagctt
     1021 ctaaggctgg aacacgcctt tgagaagaat cactacgtgg tgggcgccga aaggaagcag
     1081 ctggcacaca gcctcagcct cacggaaact caggtaaaag tatggtttca gaaccgaaga
     1141 acaaagttca aaaggcagaa gctggaggaa gaaggctcag attcgcaaca aaagaaaaaa
     1201 gggacgcacc atattaaccg gtggagaatc gccaccaagc aggcgagtcc ggaggaaata
     1261 gacgtgacct cagatgatta aaaacataaa cctaacccca cagaaacgga caacatggag
     1321 caaaagagac agggagaggt ggagaaggaa aaaaccctac aaaacaaaaa caaaccgcat
     1381 acacgttcac cgagaaaggg agagggaatc ggagggagca gcggaatgcg gcgaagactc
     1441 tggacagcga gggcacaggg tcccaaaccg aggccgcgcc aagatggcag aggatggagg
     1501 ctccttcatc aacaagcgac cctcgtctaa agaggcagct gagtgagaga cacagagaga
     1561 aggagaaaga gggagggaga gagagaaaga gagagaaaga gagagagaga gagagagaga
     1621 gaaagctgaa cgtgcactct gacaagggga gctgtcaatc aaacaccaaa ccggggagac
     1681 aagatgattg gcaggtattc cgtttatcac agtccactta aaaaatgatg atgatgataa
     1741 aaaccacgac ccaaccaggc acaggacttt tttgtttttt gcacttcgct gtgtttcccc
     1801 cccatcttta aaaataatta gtaataaaaa acaaaaattc catatctagc cccatcccac
     1861 acctgtttca aatccttgaa atgcatgtag cagttgttgg gcgaatggtg tttaaagacc
     1921 gaaaatgaat tgtaattttc ttttcctttt aaagacaggt tctgtgtgct ttttattttg
     1981 attttttttc ccaagaaatg tgcagtctgt aaacactttt tgataccttc tgatgtcaaa
     2041 gtgattgtgc aagctaaatg aagtaggctc agcgatagtg gtcctcttac agagaaacgg
     2101 ggagcaggac gacggggggg ctgggggtgg cgggggaggg tgcccacaaa aagaatcagg
     2161 acttgtactg ggaaaaaaac ccctaaatta attatatttc ttggacattc cctttcctaa
     2221 catcctgagg cttaaaaccc tgatgcaaac ttctcctttc agtggttgga gaaattggcc
     2281 gagttcaacc attcactgca atgcctattc caaactttaa atctatctat tgcaaaacct
     2341 gaaggactgt agttagcggg gatgatgtta agtgtggcca agcgcacggc ggcaagtttt
     2401 caagcactga gtttctattc caagatcata gacttactaa agagagtgac aaatgcttcc
     2461 ttaatgtctt ctataccaga atgtaaatat ttttgtgttt tgtgttaatt tgttagaatt
     2521 ctaacacact atatacttcc aagaagtatg tcaatgtcaa tattttgtca ataaagattt
     2581 atcaatatgc cctca
//
