LOCUS       NR_073034               2043 bp    RNA     linear   PRI 17-JUL-2013
DEFINITION  Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 6,
            non-coding RNA.
ACCESSION   NR_073034
VERSION     NR_073034.1  GI:395455076
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 2043)
  AUTHORS   Liu,Z., Chi,L., Fang,Y., Liu,L. and Zhang,X.
  TITLE     Specific expression pattern of a novel Otx2 splicing variant during
            neural differentiation
  JOURNAL   Gene 523 (1), 33-38 (2013)
   PUBMED   23566845
  REMARK    GeneRIF: Otx2c is a novel alternative splicing variant of Otx2 gene
            and it is tightly regulated during the differentiation process
            demonstrating that it may have a potential role in embryonic stem
            cell maintenance and differentiation.
REFERENCE   2  (bases 1 to 2043)
  AUTHORS   Bai,R.Y., Staedtke,V., Lidov,H.G., Eberhart,C.G. and Riggins,G.J.
  TITLE     OTX2 represses myogenic and neuronal differentiation in
            medulloblastoma cells
  JOURNAL   Cancer Res. 72 (22), 5988-6001 (2012)
   PUBMED   22986744
  REMARK    GeneRIF: OTX2 functions via its homeobox domain as a suppressor of
            differentiation, and the loss of OTX2 expression is linked to the
            myogenesis in medullomyoblastoma.
REFERENCE   3  (bases 1 to 2043)
  AUTHORS   Gorbenko Del Blanco,D., Romero,C.J., Diaczok,D., de Graaff,L.C.,
            Radovick,S. and Hokken-Koelega,A.C.
  TITLE     A novel OTX2 mutation in a patient with combined pituitary hormone
            deficiency, pituitary malformation, and an underdeveloped left
            optic nerve
  JOURNAL   Eur. J. Endocrinol. 167 (3), 441-452 (2012)
   PUBMED   22715480
  REMARK    GeneRIF: A novel missense heterozygous OTX2 mutation acts as a
            dominant negative inhibitor of target gene expression in a patient
            with combined pituitary hormone deficiency (CPHD), pituitary
            malformation, and optic nerve hypoplasia.
REFERENCE   4  (bases 1 to 2043)
  AUTHORS   Chassaing,N., Sorrentino,S., Davis,E.E., Martin-Coignard,D.,
            Iacovelli,A., Paznekas,W., Webb,B.D., Faye-Petersen,O.,
            Encha-Razavi,F., Lequeux,L., Vigouroux,A., Yesilyurt,A.,
            Boyadjiev,S.A., Kayserili,H., Loget,P., Carles,D., Sergi,C.,
            Puvabanditsin,S., Chen,C.P., Etchevers,H.C., Katsanis,N.,
            Mercer,C.L., Calvas,P. and Jabs,E.W.
  TITLE     OTX2 mutations contribute to the otocephaly-dysgnathia complex
  JOURNAL   J. Med. Genet. 49 (6), 373-379 (2012)
   PUBMED   22577225
  REMARK    GeneRIF: This study reports a large family in which two cousins
            with micro/anophthalmia each gave birth to at least one child with
            otocephaly. The study subsequently identified in one unrelated
            otocephalic patient a sporadic OTX2 mutation.
REFERENCE   5  (bases 1 to 2043)
  AUTHORS   Gat-Yablonski,G.
  TITLE     Brain development is a multi-level regulated process--the case of
            the OTX2 gene
  JOURNAL   Pediatr Endocrinol Rev 9 (1), 422-430 (2011)
   PUBMED   22783640
  REMARK    GeneRIF: There is no genotype-phenotype correlation and the
            severity of the disease varies not only by the specific OTX2
            mutations but also among individuals harboring the same mutation,
            suggesting the involvement of multiple levels of regulation.
            Review article
REFERENCE   6  (bases 1 to 2043)
  AUTHORS   Nakano,T., Murata,T., Matsuo,I. and Aizawa,S.
  TITLE     OTX2 directly interacts with LIM1 and HNF-3beta
  JOURNAL   Biochem. Biophys. Res. Commun. 267 (1), 64-70 (2000)
   PUBMED   10623575
REFERENCE   7  (bases 1 to 2043)
  AUTHORS   Fong,S.L. and Fong,W.B.
  TITLE     Elements regulating the transcription of human interstitial
            retinoid-binding protein (IRBP) gene in cultured retinoblastoma
            cells
  JOURNAL   Curr. Eye Res. 18 (4), 283-291 (1999)
   PUBMED   10372988
REFERENCE   8  (bases 1 to 2043)
  AUTHORS   Bobola,N., Briata,P., Ilengo,C., Rosatto,N., Craft,C., Corte,G. and
            Ravazzolo,R.
  TITLE     OTX2 homeodomain protein binds a DNA element necessary for
            interphotoreceptor retinoid binding protein gene expression
  JOURNAL   Mech. Dev. 82 (1-2), 165-169 (1999)
   PUBMED   10354480
REFERENCE   9  (bases 1 to 2043)
  AUTHORS   Nagao,T., Leuzinger,S., Acampora,D., Simeone,A., Finkelstein,R.,
            Reichert,H. and Furukubo-Tokunaga,K.
  TITLE     Developmental rescue of Drosophila cephalic defects by the human
            Otx genes
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (7), 3737-3742 (1998)
   PUBMED   9520436
REFERENCE   10 (bases 1 to 2043)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB294481.1 and BC032579.1.
            
            Summary: This gene encodes a member of the bicoid subfamily of
            homeodomain-containing transcription factors. The encoded protein
            acts as a transcription factor and plays a role in brain,
            craniofacial, and sensory organ development. The encoded protein
            also influences the proliferation and differentiation of
            dopaminergic neuronal progenitor cells during mitosis. Mutations in
            this gene cause syndromic microphthalmia 5 (MCOPS5) and combined
            pituitary hormone deficiency 6 (CPHD6). This gene is also suspected
            of having an oncogenic role in medulloblastoma. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms. Pseudogenes of this gene are known to exist on
            chromosomes two and nine. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (6) lacks an exon in the coding
            region, compared to variant 1, which results in a frameshift and
            early stop codon. The transcript is sufficiently abundant to
            represent as a RefSeq record; however, the predicted protein is not
            represented because the product is significantly truncated.
            
            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 :: DB294481.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-631               DB294481.1         4-634
            632-2043            BC032579.1         809-2220
FEATURES             Location/Qualifiers
     source          1..2043
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.3"
     gene            1..2043
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /note="orthodenticle homeobox 2"
                     /db_xref="GeneID:5015"
                     /db_xref="HGNC:8522"
                     /db_xref="MIM:600037"
     misc_RNA        1..2043
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /product="orthodenticle homeobox 2, transcript variant 6"
                     /db_xref="GeneID:5015"
                     /db_xref="HGNC:8522"
                     /db_xref="MIM:600037"
     exon            1..101
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /inference="alignment:Splign:1.39.8"
     exon            102..165
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /inference="alignment:Splign:1.39.8"
     exon            166..381
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    285..392
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /inference="COORDINATES: ab initio prediction:ORF Finder"
                     /note="predicted ORF does not meet quality criteria for
                     protein coding locus with longer protein data"
     exon            382..2030
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /inference="alignment:Splign:1.39.8"
     variation       1012
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:171978"
     variation       1342
                     /gene="OTX2"
                     /gene_synonym="CPHD6; MCOPS5"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:3215889"
ORIGIN      

aaatctccctgagagcgggaccggcctcagctccaacacagcctccactgtgattaaaaataaaaattgctagagcagccctcactcgccacatctactttgatagctggctatttggaatttaaaggatatttgactttttctaacctcccatgaggctgtaagttccactgctccaaacccacccaccaaggactctgaacctgtccaccccgggcgcatcaagatcttccagctgggtacccccgatttgggccgactttgcacctccaaacaaccttagcatgatgtcttatcttaagcaaccgccttacgcagtcaatgggctgagtctgaccacttcgggtatggacttgctgcacccctccgtgggctacccgggtatggtttaagaatcgaagagctaagtgccgccaacaacagcaacaacagcagaatggaggtcaaaacaaagtgagacctgccaaaaagaagacatctccagctcgggaagtgagttcagagagtggaacaagtggccaattcactcccccctctagcacctcagtcccgaccattgccagcagcagtgctcctgtgtctatctggagcccagcttccatctccccactgtcagatcccttgtccacctcctcttcctgcatgcagaggtcctatcccatgacctatactcaggcttcaggttatagtcaaggatatgctggctcaacttcctactttgggggcatggactgtggatcatatttgacccctatgcatcaccagcttcccggaccaggggccacactcagtcccatgggtaccaatgcagtcaccagccatctcaatcagtccccagcttctctttccacccagggatatggagcttcaagcttgggttttaactcaaccactgattgcttggattataaggaccaaactgcctcctggaagcttaacttcaatgctgactgcttggattataaagatcagacatcctcgtggaaattccaggttttgtgaagacctgtagaacctctttttgtgggtgatttttaaatatactgggctggacattccagttttagccaggcattggttaaaagagttagatgggatgatgctcagactcatctgatcaaagttccgagaggcatagaaggaaaaacgaagggccttagaggggcctacaaaccagcaacatgaaatggacaaaccaatctgcttaagatcctgtcatagttttagatcattggttatcctgatttgcaaagtgatcaaaagcattctagccatgtgcaaccaaacaccaccaaaaataaaatcaaacaaaactaagttgtgaaggaagggagggaaggtcatagccttcttaagcagaggtgttccattgttttagccaatccttggttgaatcttaggaatgaacagtgtctcaagctcattcacgtttcatgaccaactggtagttggcactgaaaaaacttttcagggctgtgtgaattgtgtgactgattgtcctagatgcactactttatttaaaaaataatgttcataaggagtcaatatgtagtttaagagacaatcagtgtgtgtcttataaatggtacatctgtggtttttaatctgtgctagacttcaaaactgtgatctcctgttattgtatgcaaccttgaactccacctctgcaggggttcttctgtgattaaataggttataattataagcaaaattcagagcaactgagtactgatctaaaaagattacctttggctggaggtgagctgcactgaaactttacgacaaaatgtctctggacaaagagagtcagagaagagaagcaaaaggacactaattcatctgtaatttactgttggtaagcctagcagtaaagagacattggtcaattgctctgaccctgatgaattattaaactgagatcattgtcgtttatgcttgcagatgttaaatggaaaagttatatatgcataaaccttttcttcctggatttggcagatatgtataattatattaaaatggttctagcacaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5015 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IDA
            GeneID:5015 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
            GeneID:5015 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5015 -> Molecular function: GO:0008190 [eukaryotic initiation factor 4E binding] evidence: TAS
            GeneID:5015 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:5015 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
            GeneID:5015 -> Biological process: GO:0001708 [cell fate specification] evidence: IEA
            GeneID:5015 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS
            GeneID:5015 -> Biological process: GO:0006461 [protein complex assembly] evidence: IDA
            GeneID:5015 -> Biological process: GO:0007411 [axon guidance] evidence: IDA
            GeneID:5015 -> Biological process: GO:0007492 [endoderm development] evidence: IEA
            GeneID:5015 -> Biological process: GO:0008589 [regulation of smoothened signaling pathway] evidence: TAS
            GeneID:5015 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: IEA
            GeneID:5015 -> Biological process: GO:0022037 [metencephalon development] evidence: IEA
            GeneID:5015 -> Biological process: GO:0030900 [forebrain development] evidence: TAS
            GeneID:5015 -> Biological process: GO:0030901 [midbrain development] evidence: TAS
            GeneID:5015 -> Biological process: GO:0032525 [somite rostral/caudal axis specification] evidence: IEA
            GeneID:5015 -> Biological process: GO:0040019 [positive regulation of embryonic development] evidence: ISS
            GeneID:5015 -> Biological process: GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway] evidence: TAS
            GeneID:5015 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
            GeneID:5015 -> Biological process: GO:0042706 [eye photoreceptor cell fate commitment] evidence: IEA
            GeneID:5015 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: ISS
            GeneID:5015 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:5015 -> Biological process: GO:0048852 [diencephalon morphogenesis] evidence: IEA
            GeneID:5015 -> Biological process: GO:0090009 [primitive streak formation] evidence: ISS
            GeneID:5015 -> Biological process: GO:2000543 [positive regulation of gastrulation] evidence: ISS
            GeneID:5015 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
            GeneID:5015 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
            GeneID:5015 -> Cellular component: GO:0030426 [growth cone] evidence: IDA
            GeneID:5015 -> Cellular component: GO:0043234 [protein complex] evidence: IDA