2025-05-09 20:24:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001165924 2723 bp mRNA linear PRI 29-JUN-2013 DEFINITION Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 2, mRNA. ACCESSION NM_001165924 VERSION NM_001165924.1 GI:260064071 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 2723) AUTHORS Li,X., Hawkins,G.A., Ampleford,E.J., Moore,W.C., Li,H., Hastie,A.T., Howard,T.D., Boushey,H.A., Busse,W.W., Calhoun,W.J., Castro,M., Erzurum,S.C., Israel,E., Lemanske,R.F. Jr., Szefler,S.J., Wasserman,S.I., Wenzel,S.E., Peters,S.P., Meyers,D.A. and Bleecker,E.R. TITLE Genome-wide association study identifies T1 pathway genes associated with lung function in asthmatic patients JOURNAL J. Allergy Clin. Immunol. (2013) In press PUBMED 23541324 REMARK Publication Status: Available-Online prior to print REFERENCE 2 (bases 1 to 2723) AUTHORS Wilk,J.B., Shrine,N.R., Loehr,L.R., Zhao,J.H., Manichaikul,A., Lopez,L.M., Smith,A.V., Heckbert,S.R., Smolonska,J., Tang,W., Loth,D.W., Curjuric,I., Hui,J., Cho,M.H., Latourelle,J.C., Henry,A.P., Aldrich,M., Bakke,P., Beaty,T.H., Bentley,A.R., Borecki,I.B., Brusselle,G.G., Burkart,K.M., Chen,T.H., Couper,D., Crapo,J.D., Davies,G., Dupuis,J., Franceschini,N., Gulsvik,A., Hancock,D.B., Harris,T.B., Hofman,A., Imboden,M., James,A.L., Khaw,K.T., Lahousse,L., Launer,L.J., Litonjua,A., Liu,Y., Lohman,K.K., Lomas,D.A., Lumley,T., Marciante,K.D., McArdle,W.L., Meibohm,B., Morrison,A.C., Musk,A.W., Myers,R.H., North,K.E., Postma,D.S., Psaty,B.M., Rich,S.S., Rivadeneira,F., Rochat,T., Rotter,J.I., Artigas,M.S., Starr,J.M., Uitterlinden,A.G., Wareham,N.J., Wijmenga,C., Zanen,P., Province,M.A., Silverman,E.K., Deary,I.J., Palmer,L.J., Cassano,P.A., Gudnason,V., Barr,R.G., Loos,R.J., Strachan,D.P., London,S.J., Boezen,H.M., Probst-Hensch,N., Gharib,S.A., Hall,I.P., O'Connor,G.T., Tobin,M.D. and Stricker,B.H. TITLE Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction JOURNAL Am. J. Respir. Crit. Care Med. 186 (7), 622-632 (2012) PUBMED 22837378 REFERENCE 3 (bases 1 to 2723) AUTHORS Sinner,M.F., Porthan,K., Noseworthy,P.A., Havulinna,A.S., Tikkanen,J.T., Muller-Nurasyid,M., Peloso,G., Ulivi,S., Beckmann,B.M., Brockhaus,A.C., Cooper,R.R., Gasparini,P., Hengstenberg,C., Hwang,S.J., Iorio,A., Junttila,M.J., Klopp,N., Kahonen,M., Laaksonen,M.A., Lehtimaki,T., Lichtner,P., Lyytikainen,L.P., Martens,E., Meisinger,C., Meitinger,T., Merchant,F.M., Nieminen,M.S., Peters,A., Pietila,A., Perz,S., Oikarinen,L., Raitakari,O., Reinhard,W., Silander,K., Thorand,B., Wichmann,H.E., Sinagra,G., Viikari,J., O'Donnell,C.J., Ellinor,P.T., Huikuri,H.V., Kaab,S., Newton-Cheh,C. and Salomaa,V. TITLE A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern JOURNAL Heart Rhythm 9 (10), 1627-1634 (2012) PUBMED 22683750 REFERENCE 4 (bases 1 to 2723) AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K., Gibbs,R.A. and Butte,N.F. TITLE Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population JOURNAL PLoS ONE 7 (12), E51954 (2012) PUBMED 23251661 REFERENCE 5 (bases 1 to 2723) AUTHORS Li,J., Mo,M., Chen,Z., Chen,Z., Sheng,Q., Mu,H., Zhang,F., Zhang,Y., Zhi,X.Y., Li,H., He,B. and Zhou,H.M. TITLE Adenoviral delivery of the EMX2 gene suppresses growth in human gastric cancer JOURNAL PLoS ONE 7 (9), E45970 (2012) PUBMED 23029345 REMARK GeneRIF: EMX2 expression led to inhibition of cell proliferation and Wnt signaling pathway both in vitro and in a gastric cancer xenograft model in vivo. REFERENCE 6 (bases 1 to 2723) AUTHORS Guerrini,R. and Carrozzo,R. TITLE Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing JOURNAL Seizure 11 (SUPPL A), 532-543 (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 2723) 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 2723) 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 2723) 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 2723) 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, AC005871.3 and AI701984.1. 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 (2) lacks an exon in the coding region, compared to variant 1, which results in a frameshift and a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1. Isoform 2 lacks the C-terminal homeodomain of 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 :: BX460754.2, BP873246.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1123 AF301598.1 1-1123 1124-1229 AC005871.3 34899-35004 c 1230-2707 AC005871.3 29030-30507 c 2708-2723 AI701984.1 1-16 c FEATURES Location/Qualifiers source 1..2723 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q26.1" gene 1..2723 /gene="EMX2" /note="empty spiracles homeobox 2" /db_xref="GeneID:2018" /db_xref="HGNC:3341" /db_xref="MIM:600035" exon 1..1229 /gene="EMX2" /inference="alignment:Splign:1.39.8" variation 150 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:12777466" variation 187 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:375090740" variation 268 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:193287673" misc_feature 284..286 /gene="EMX2" /note="upstream in-frame stop codon" variation 386..387 /gene="EMX2" /replace="" /replace="t" /db_xref="dbSNP:368535750" variation 423 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:375486605" variation 456 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:12777755" variation 470 /gene="EMX2" /replace="" /replace="t" /db_xref="dbSNP:71013666" variation 488 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:60309535" variation 494 /gene="EMX2" /replace="" /replace="g" /db_xref="dbSNP:374002074" variation 645 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:372863199" variation 659 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:12784456" variation 688..693 /gene="EMX2" /replace="" /replace="ccccca" /db_xref="dbSNP:149284992" STS 728..1815 /gene="EMX2" /db_xref="UniSTS:481530" variation 737 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:369213869" variation 778 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:8192643" STS 779..1433 /gene="EMX2" /db_xref="UniSTS:482320" CDS 824..1333 /gene="EMX2" /note="isoform 2 is encoded by transcript variant 2; empty spiracles-like protein 2; homeobox protein EMX2; empty spiracles homolog 2" /codon_start=1 /product="homeobox protein EMX2 isoform 2" /protein_id="NP_001159396.1" /db_xref="GI:260064072" /db_xref="CCDS:CCDS53583.1" /db_xref="GeneID:2018" /db_xref="HGNC:3341" /db_xref="MIM:600035" /translation="
MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPINPFLNGFHSAAAAAAGRGVYSNPDLVFAEAVSHPPNPAVPVHPVPPPHALAAHPLPSSHSPHPLFASQQRDPSTFYPWLIHRYRYLGHRFQGKSMVSEPKNKVQKAEAGGRRLRFATKEKRDAPY
" variation 836 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:371549541" variation 865 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:375691102" variation 893 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:369744669" variation 916 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:146160041" variation 928 /gene="EMX2" /replace="a" /replace="t" /db_xref="dbSNP:373030604" variation 944 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:140164453" variation 961 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:377504325" variation 1069 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:371177025" variation 1079 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:113852997" variation 1082 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:200918900" variation 1095 /gene="EMX2" /replace="a" /replace="c" /db_xref="dbSNP:200357168" variation 1114 /gene="EMX2" /replace="a" /replace="c" /db_xref="dbSNP:149834474" variation 1144 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:376153573" variation 1161 /gene="EMX2" /replace="a" /replace="t" /db_xref="dbSNP:370537063" variation 1171 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:144775289" STS 1175..1379 /gene="EMX2" /standard_name="Emx2" /db_xref="UniSTS:530684" variation 1198 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:148439570" exon 1230..2711 /gene="EMX2" /inference="alignment:Splign:1.39.8" variation 1291 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:200981903" variation 1360 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:376235349" variation 1363 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:147858760" variation 1423 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:146762820" variation 1431 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:56407327" variation 1433 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:376621996" variation 1434..1435 /gene="EMX2" /replace="" /replace="t" /db_xref="dbSNP:35212038" variation 1506 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:139391042" variation 1515 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:191919707" STS 1569..1772 /gene="EMX2" /standard_name="Emx2" /db_xref="UniSTS:142986" variation 1696 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:11814647" variation 1703 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:11814648" variation 1707 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:11818517" variation 1713 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:11814649" variation 1714..1717 /gene="EMX2" /replace="" /replace="agag" /db_xref="dbSNP:66710107" variation 1714..1715 /gene="EMX2" /replace="" /replace="ag" /db_xref="dbSNP:113566709" variation 1716..1719 /gene="EMX2" /replace="" /replace="agag" /db_xref="dbSNP:34929200" variation 1717..1720 /gene="EMX2" /replace="" /replace="gaga" /db_xref="dbSNP:146292406" variation 1717 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:11818518" variation 1729 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:56380433" variation 1735..1738 /gene="EMX2" /replace="" /replace="gaga" /db_xref="dbSNP:55851441" variation 1743 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:447520" variation 1958 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:374374688" variation 1988 /gene="EMX2" /replace="" /replace="a" /db_xref="dbSNP:72541118" variation 2022 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:143671290" variation 2070 /gene="EMX2" /replace="g" /replace="t" /db_xref="dbSNP:75535495" variation 2200 /gene="EMX2" /replace="c" /replace="g" /db_xref="dbSNP:374436349" variation 2231 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:371551174" variation 2275 /gene="EMX2" /replace="a" /replace="g" /db_xref="dbSNP:182380025" variation 2313 /gene="EMX2" /replace="a" /replace="t" /db_xref="dbSNP:148079404" variation 2322 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:187010704" variation 2396 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:141898399" STS 2471..2677 /gene="EMX2" /standard_name="STS-AA025104" /db_xref="UniSTS:21044" variation 2598 /gene="EMX2" /replace="c" /replace="t" /db_xref="dbSNP:41284394" ORIGIN
cgggcgccgcaggagcgagtgagctgggagcgaggggcgaaggcgcggagaagcccggccgcccggtgggcggcagaaggctcagccgaggcggcggcgccgactccgttccactctcggcccggatccaggcctccgggttcccaggcgctcacctccctctgacgcactttaaagagtctccccccttccacctcagggcgagtaatagcgaccaatcatcaagccatttaccaggcttcggaggaagctgtttatgtgatccccgcactaattaggctcatgaactaacaaatcgtttgcacaacttgtgaagaagcgaacacttccatggattgtccttggacttagggcgccctgcccgccttttgcagaggagaaaaaacttttttttttttttgcctcccccgagaactttccccccttctcctccctgcctctaactccgatccccccacgccatctcgccaaaaaaaaaaaaaaaaaaaaaaaagaaaaaaaaagaaaaaaaaagaaaaaaaattaccccaatccacgcctgcaaattcttctggaaggattttcccccctctcttcaggttgggcgcgtttggtgcaagattctcgggatcctcggctttgcctctccctctccctcccccctcctttcctttttcctttcctttcctttctttcttcctttccttccccccacccccacccccaccccaaacaaacgagtccccaattctcgtccgtcctcgccgcgggcagcgggcggcggaggcagcgtgcggcggtcgccaggagctgggagcccagggcgcccgctcctcggcgcagcatgttccagccggcgcccaagcgctgcttcaccatcgagtcgctggtggccaaggacagtcccctgcccgcctcgcgctccgaggaccccatccgtcccgcggcactcagctacgctaactccagccccataaatccgttcctcaacggcttccactcggccgccgccgccgccgccggtaggggcgtctactccaacccggacttggtgttcgccgaggcggtctcgcacccgcccaaccccgccgtgccagtgcacccggtgccgccgccgcacgccctggccgcccaccccctaccctcctcgcactcgccacaccccctattcgcctcgcagcagcgggatccgtccaccttctacccctggctcatccaccgctaccgatatctgggtcatcgcttccaaggtaaaagtatggtttcagaaccgaagaacaaagttcaaaaggcagaagctggaggaagaaggctcagattcgcaacaaaagaaaaaagggacgcaccatattaaccggtggagaatcgccaccaagcaggcgagtccggaggaaatagacgtgacctcagatgattaaaaacataaacctaaccccacagaaacggacaacatggagcaaaagagacagggagaggtggagaaggaaaaaaccctacaaaacaaaaacaaaccgcatacacgttcaccgagaaagggagagggaatcggagggagcagcggaatgcggcgaagactctggacagcgagggcacagggtcccaaaccgaggccgcgccaagatggcagaggatggaggctccttcatcaacaagcgaccctcgtctaaagaggcagctgagtgagagacacagagagaaggagaaagagggagggagagagagaaagagagagaaagagagagagagagagagagagagaaagctgaacgtgcactctgacaaggggagctgtcaatcaaacaccaaaccggggagacaagatgattggcaggtattccgtttatcacagtccacttaaaaaatgatgatgatgataaaaaccacgacccaaccaggcacaggacttttttgttttttgcacttcgctgtgtttcccccccatctttaaaaataattagtaataaaaaacaaaaattccatatctagccccatcccacacctgtttcaaatccttgaaatgcatgtagcagttgttgggcgaatggtgtttaaagaccgaaaatgaattgtaattttcttttccttttaaagacaggttctgtgtgctttttattttgattttttttcccaagaaatgtgcagtctgtaaacactttttgataccttctgatgtcaaagtgattgtgcaagctaaatgaagtaggctcagcgatagtggtcctcttacagagaaacggggagcaggacgacgggggggctgggggtggcgggggagggtgcccacaaaaagaatcaggacttgtactgggaaaaaaacccctaaattaattatatttcttggacattccctttcctaacatcctgaggcttaaaaccctgatgcaaacttctcctttcagtggttggagaaattggccgagttcaaccattcactgcaatgcctattccaaactttaaatctatctattgcaaaacctgaaggactgtagttagcggggatgatgttaagtgtggccaagcgcacggcggcaagttttcaagcactgagtttctattccaagatcatagacttactaaagagagtgacaaatgcttccttaatgtcttctataccagaatgtaaatatttttgtgttttgtgttaatttgttagaattctaacacactatatacttccaagaagtatgtcaatgtcaatattttgtcaataaagatttatcaatatgccctcaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2018 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA GeneID:2018 -> Molecular function: GO:0003677 [DNA binding] evidence: NAS GeneID:2018 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:2018 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:2018 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS GeneID:2018 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:2018 -> Biological process: GO:0021542 [dentate gyrus development] evidence: IEA GeneID:2018 -> Biological process: GO:0021796 [cerebral cortex regionalization] evidence: IEA GeneID:2018 -> Biological process: GO:0021846 [cell proliferation in forebrain] evidence: IEA GeneID:2018 -> Biological process: GO:0021885 [forebrain cell migration] evidence: IEA GeneID:2018 -> Biological process: GO:0030182 [neuron differentiation] evidence: IEA GeneID:2018 -> Biological process: GO:0042493 [response to drug] evidence: IEA GeneID:2018 -> Biological process: GO:0072001 [renal system development] evidence: IEA GeneID:2018 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
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