LOCUS       NM_021220               1583 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ovo like zinc finger 2 (OVOL2), transcript variant 1,
            mRNA.
ACCESSION   NM_021220
VERSION     NM_021220.4
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 1583)
  AUTHORS   Sunny,S.S., Lachova,J., Kasparek,P., Palkova,M., Spoutil,F.,
            Prochazka,J., Sedlacek,R., Liskova,P. and Kozmik,Z.
  TITLE     Ovol2 promoter mutations in mice and human illuminate
            species-specific phenotypic divergence
  JOURNAL   Hum Mol Genet 33 (6), 491-500 (2024)
   PUBMED   37971355
  REMARK    GeneRIF: Ovol2 promoter mutations in mice and human illuminate
            species-specific phenotypic divergence.
REFERENCE   2  (bases 1 to 1583)
  AUTHORS   Zhang,X., Luo,F., Luo,S., Li,L., Ren,X., Lin,J., Liang,Y., Ma,C.,
            Ding,L., Zhang,D., Ye,T., Lin,Y., Jin,B., Gao,S. and Ye,Q.
  TITLE     Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast
            Cancer
  JOURNAL   Adv Sci (Weinh) 9 (27), e2200705 (2022)
   PUBMED   35896951
  REMARK    GeneRIF: Transcriptional Repression of Aerobic Glycolysis by OVOL2
            in Breast Cancer.
REFERENCE   3  (bases 1 to 1583)
  AUTHORS   Zhang,R., Geng,G.J., Guo,J.G., Mi,Y.J., Zhu,X.L., Li,N., Liu,H.M.,
            Lin,J.F., Wang,J.W., Zhao,G., Ye,G.Z., Li,B.A., Luo,Q.C. and
            Jiang,J.
  TITLE     An NF-kappaB/OVOL2 circuit regulates glucose import and cell
            survival in non-small cell lung cancer
  JOURNAL   Cell Commun Signal 20 (1), 40 (2022)
   PUBMED   35346238
  REMARK    GeneRIF: An NF-kappaB/OVOL2 circuit regulates glucose import and
            cell survival in non-small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1583)
  AUTHORS   Gugnoni,M., Manzotti,G., Vitale,E., Sauta,E., Torricelli,F.,
            Reggiani,F., Pistoni,M., Piana,S. and Ciarrocchi,A.
  TITLE     OVOL2 impairs RHO GTPase signaling to restrain mitosis and
            aggressiveness of Anaplastic Thyroid Cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 108 (2022)
   PUBMED   35337349
  REMARK    GeneRIF: OVOL2 impairs RHO GTPase signaling to restrain mitosis and
            aggressiveness of Anaplastic Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1583)
  AUTHORS   Roca,H., Hernandez,J., Weidner,S., McEachin,R.C., Fuller,D.,
            Sud,S., Schumann,T., Wilkinson,J.E., Zaslavsky,A., Li,H.,
            Maher,C.A., Daignault-Newton,S., Healy,P.N. and Pienta,K.J.
  TITLE     Transcription factors OVOL1 and OVOL2 induce the mesenchymal to
            epithelial transition in human cancer
  JOURNAL   PLoS One 8 (10), e76773 (2013)
   PUBMED   24124593
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1583)
  AUTHORS   Kumar,A., Bhandari,A., Sinha,R., Sardar,P., Sushma,M., Goyal,P.,
            Goswami,C. and Grapputo,A.
  TITLE     Molecular phylogeny of OVOL genes illustrates a conserved C2H2 zinc
            finger domain coupled by hypervariable unstructured regions
  JOURNAL   PLoS One 7 (6), e39399 (2012)
   PUBMED   22737237
  REMARK    GeneRIF: Molecular phylogeny of OVOL1, OVOL2 and OVOL3 genes
            illustrates a conserved C2H2 zinc finger domain coupled by
            hypervariable unstructured regions in humans and other species
REFERENCE   7  (bases 1 to 1583)
  AUTHORS   Moroi,S.E., Gokhale,P.A., Schteingart,M.T., Sugar,A., Downs,C.A.,
            Shimizu,S., Krafchak,C., Fuse,N., Elner,S.G., Elner,V.M., Flint,A.,
            Epstein,M.P., Boehnke,M. and Richards,J.E.
  TITLE     Clinicopathologic correlation and genetic analysis in a case of
            posterior polymorphous corneal dystrophy
  JOURNAL   Am J Ophthalmol 135 (4), 461-470 (2003)
   PUBMED   12654361
  REMARK    GeneRIF: congenital hereditary endothelial dystrophy 1 (CHED1) and
            CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2
            (COL8A2) gene were excluded by linkage and haplotype analyses.
REFERENCE   8  (bases 1 to 1583)
  AUTHORS   Li,B., Dai,Q., Li,L., Nair,M., Mackay,D.R. and Dai,X.
  TITLE     Ovol2, a mammalian homolog of Drosophila ovo: gene structure,
            chromosomal mapping, and aberrant expression in blind-sterile mice
  JOURNAL   Genomics 80 (3), 319-325 (2002)
   PUBMED   12213202
REFERENCE   9  (bases 1 to 1583)
  AUTHORS   Callaghan,M., Hand,C.K., Kennedy,S.M., FitzSimon,J.S., Collum,L.M.
            and Parfrey,N.A.
  TITLE     Homozygosity mapping and linkage analysis demonstrate that
            autosomal recessive congenital hereditary endothelial dystrophy
            (CHED) and autosomal dominant CHED are genetically distinct
  JOURNAL   Br J Ophthalmol 83 (1), 115-119 (1999)
   PUBMED   10209448
REFERENCE   10 (bases 1 to 1583)
  AUTHORS   Toma,N.M., Ebenezer,N.D., Inglehearn,C.F., Plant,C., Ficker,L.A.
            and Bhattacharya,S.S.
  TITLE     Linkage of congenital hereditary endothelial dystrophy to
            chromosome 20
  JOURNAL   Hum Mol Genet 4 (12), 2395-2398 (1995)
   PUBMED   8634716
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160411.25, BC006148.1,
            BX331154.2 and AI811832.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021220.3.
            
            Summary: This gene encodes a member of the evolutionarily conserved
            ovo-like protein family. Mammalian members of this family contain a
            single zinc finger domain composed of a tetrad of C2H2 zinc fingers
            with variable N- and C-terminal extensions that contain
            intrinsically disordered domains. Members of this family are
            involved in epithelial development and differentiation. Knockout of
            this gene in mouse results in early embryonic lethality with
            phenotypes that include neurectoderm expansion, impaired
            vascularization, and heart anomalies. In humans, allelic variants
            of this gene have been associated with posterior polymorphous
            corneal dystrophy. [provided by RefSeq, Apr 2016].
            
            Transcript Variant: This variant (1) represents the longest
            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 :: BC006148.1, BX365717.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278780.7/ ENSP00000278780.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AL160411.25        24667-24700         c
            35-1276             BC006148.1         1-1242
            1277-1392           BX331154.2         87-202              c
            1393-1583           AI811832.1         19-209              c
FEATURES             Location/Qualifiers
     source          1..1583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     gene            1..1583
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /note="ovo like zinc finger 2"
                     /db_xref="GeneID:58495"
                     /db_xref="HGNC:HGNC:15804"
                     /db_xref="MIM:616441"
     exon            1..382
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /inference="alignment:Splign:2.1.0"
     CDS             283..1110
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transcription factor Ovo-like 2; zinc finger protein 339;
                     corneal endothelial dystrophy 1 (autosomal dominant)"
                     /codon_start=1
                     /product="transcription factor Ovo-like 2 isoform 1"
                     /protein_id="NP_067043.2"
                     /db_xref="CCDS:CCDS13132.1"
                     /db_xref="GeneID:58495"
                     /db_xref="HGNC:HGNC:15804"
                     /db_xref="MIM:616441"
                     /translation="MPKVFLVKRRSLGVSVRSWDELPDEKRADTYIPVGLGRLLHDPP
                     EDCRSDGGSSSGSGSSSAGEPGGAESSSSPHAPESETPEPGDAEGPDGHLATKQRPVA
                     RSKIKFTTGTCSDSVVHSCDLCGKGFRLQRMLNRHLKCHNQVKRHLCTFCGKGFNDTF
                     DLKRHVRTHTGIRPYKCNVCNKAFTQRCSLESHLKKIHGVQQQYAYKQRRDKLYVCED
                     CGYTGPTQEDLYLHVNSAHPGSSFLKKTSKKLAALLQGKLTSAHQENTSLSEEEERK"
     exon            383..603
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /inference="alignment:Splign:2.1.0"
     exon            604..793
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /inference="alignment:Splign:2.1.0"
     exon            794..1583
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /note="hexamer: AATAAA"
     polyA_site      1484
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /note="major polyA site"
     regulatory      1549..1554
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
                     /note="hexamer: AATGAA"
     polyA_site      1583
                     /gene="OVOL2"
                     /gene_synonym="CHED; CHED1; CHED2; EUROIMAGE566589; PPCD1;
                     ZNF339"
ORIGIN      
        1 aagtttcctg gtgccttttc tattccacct tatgaaactt tttccccggc gtggtctcac
       61 tcgcgattta aggcataggt gtcgccgagc cgggaggctg ggagtcgcca ggcgtgcggg
      121 ggagaggcct gggccgcgcc gcggcggggg gtggaggaag agggcaggcg aggcgggaag
      181 gtgggctctg gccgccggga gccggggacg gagccgccgc cgttgcccct agcggggagc
      241 agccgggagg agggggccgc agtcgggaga ggggacccca ccatgcccaa agtcttcctg
      301 gtgaagagga ggagcctggg ggtctcggtc cgcagctggg atgagctccc ggatgagaaa
      361 agggcagaca cctacatccc agtgggccta ggccgcctgc tccacgaccc ccccgaggac
      421 tgccgcagcg acggcggcag cagcagcggc agcggcagca gcagcgcggg ggagcctgga
      481 ggagcagaga gcagctcgtc cccgcacgcc cccgagagcg aaacccccga gcccggcgac
      541 gccgagggcc ccgatggaca cctggcgacc aagcagcgcc cggtcgccag atcgaaaatc
      601 aagttcacca caggcacgtg cagcgactcg gtggttcaca gctgtgacct gtgtggcaag
      661 ggcttccgtc tgcagcgcat gctgaaccgt cacctcaagt gccacaacca ggtgaaaaga
      721 cacctgtgca ccttctgcgg caagggcttc aacgacacct tcgacctgaa gaggcacgtc
      781 cgcacacaca caggcattcg tccctacaaa tgcaacgtct gcaataaagc cttcacccag
      841 cgctgctctc tggagtccca cctgaagaaa atccatgggg tgcagcagca gtatgcctat
      901 aagcagcggc gggacaagct ctacgtctgc gaggattgcg gctacacggg ccccacccag
      961 gaggacctgt acctgcacgt gaacagtgcc catccgggca gctcgtttct caaaaagaca
     1021 tctaaaaaac tggcagccct tctgcagggc aagctgacat ccgcacacca ggagaatacc
     1081 agcctgagtg aggaggagga gaggaagtga ggagaaggaa ggggaggaca gacgttcaca
     1141 ctgccacgta tgtctacgtg gatttttggt tttcagcttc ccccacccca ctggctcttc
     1201 ttaattagaa gtgaccagtt cacctctgtg tccttttgaa acatcagcag tagggtccat
     1261 tccaagattg tcagttgccg ttagtgacgt caggccctgt aacctgtgtc ctgtctggcg
     1321 cagttgctca cattcaccaa agtttgtttt catgatcctg atggccaaga acaccgtgtg
     1381 ggattttttt ttcccccaag gattttcaca cacggaagga gaggtatttc ttagagagat
     1441 catcatttta tggtgccttg aaataaaaat acttctactt gaaatgctgt ttaagcaagg
     1501 caagtgaatt ttgttattct gaaagagttt acagaaacta ttttaataaa tgaaatgttc
     1561 ttgtgaagct tttaaaagca aaa
//
