LOCUS       NM_007374               2592 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens SIX homeobox 6 (SIX6), mRNA.
ACCESSION   NM_007374
VERSION     NM_007374.3
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 2592)
  AUTHORS   Lu,S.Y., Zhang,X.J., Wang,Y.M., Yuan,N., Kam,K.W., Chan,P.P.,
            Tam,P.O., Yip,W.W., Young,A.L., Tham,C.C., Pang,C.P., Yam,J.C. and
            Chen,L.J.
  TITLE     Association of SIX1-SIX6 polymorphisms with peripapillary retinal
            nerve fibre layer thickness in children
  JOURNAL   Br J Ophthalmol 107 (8), 1216-1222 (2023)
   PUBMED   35017159
  REMARK    GeneRIF: Association of SIX1-SIX6 polymorphisms with peripapillary
            retinal nerve fibre layer thickness in children.
REFERENCE   2  (bases 1 to 2592)
  AUTHORS   Lee,Y.C., Lee,M.Y. and Shin,H.Y.
  TITLE     Lack of association between SIX1/SIX6 locus polymorphisms and
            pseudoexfoliation syndrome in a population from the Republic of
            Korea
  JOURNAL   Medicine (Baltimore) 101 (52), e31542 (2022)
   PUBMED   36596020
  REMARK    GeneRIF: Lack of association between SIX1/SIX6 locus polymorphisms
            and pseudoexfoliation syndrome in a population from the Republic of
            Korea.
REFERENCE   3  (bases 1 to 2592)
  AUTHORS   Shin,H.Y., Lee,Y.C. and Lee,M.Y.
  TITLE     Association of Polymorphisms at the SIX1/SIX6 Locus With Normal
            Tension Glaucoma in a Korean Population
  JOURNAL   J Glaucoma 31 (9), 763-766 (2022)
   PUBMED   35658088
  REMARK    GeneRIF: Association of Polymorphisms at the SIX1/SIX6 Locus With
            Normal Tension Glaucoma in a Korean Population.
REFERENCE   4  (bases 1 to 2592)
  AUTHORS   Dong,S., Yang,Z., Xu,P., Zheng,W., Zhang,B., Fu,F., Mao,Z.,
            Yuan,J., Chen,H. and Yu,W.
  TITLE     Mutually exclusive epigenetic modification on SIX6 with
            hypermethylation for precancerous stage and metastasis emergence
            tracing
  JOURNAL   Signal Transduct Target Ther 7 (1), 208 (2022)
   PUBMED   35790732
  REMARK    GeneRIF: Mutually exclusive epigenetic modification on SIX6 with
            hypermethylation for precancerous stage and metastasis emergence
            tracing.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2592)
  AUTHORS   Panagiotou,E.S., Fernandez-Fuentes,N., Farraj,L.A., McKibbin,M.,
            Elcioglu,N.H., Jafri,H., Cerman,E., Parry,D.A., Logan,C.V.,
            Johnson,C.A., Inglehearn,C.F., Toomes,C. and Ali,M.
  TITLE     Novel SIX6 mutations cause recessively inherited congenital
            cataract, microcornea, and corneal opacification with or without
            coloboma and microphthalmia
  JOURNAL   Mol Vis 28, 57-69 (2022)
   PUBMED   35693420
  REMARK    GeneRIF: Novel SIX6 mutations cause recessively inherited
            congenital cataract, microcornea, and corneal opacification with or
            without coloboma and microphthalmia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2592)
  AUTHORS   Lopez-Rios,J., Tessmar,K., Loosli,F., Wittbrodt,J. and Bovolenta,P.
  TITLE     Six3 and Six6 activity is modulated by members of the groucho
            family
  JOURNAL   Development 130 (1), 185-195 (2003)
   PUBMED   12441302
REFERENCE   7  (bases 1 to 2592)
  AUTHORS   Forconi,F., Sahota,S.S., Raspadori,D., Mockridge,C.I., Lauria,F.
            and Stevenson,F.K.
  TITLE     Tumor cells of hairy cell leukemia express multiple clonally
            related immunoglobulin isotypes via RNA splicing
  JOURNAL   Blood 98 (4), 1174-1181 (2001)
   PUBMED   11493467
REFERENCE   8  (bases 1 to 2592)
  AUTHORS   Gallardo,M.E., Lopez-Rios,J., Fernaud-Espinosa,I., Granadino,B.,
            Sanz,R., Ramos,C., Ayuso,C., Seller,M.J., Brunner,H.G.,
            Bovolenta,P. and Rodriguez de Cordoba,S.
  TITLE     Genomic cloning and characterization of the human homeobox gene
            SIX6 reveals a cluster of SIX genes in chromosome 14 and associates
            SIX6 hemizygosity with bilateral anophthalmia and pituitary
            anomalies
  JOURNAL   Genomics 61 (1), 82-91 (1999)
   PUBMED   10512683
REFERENCE   9  (bases 1 to 2592)
  AUTHORS   Lopez-Rios,J., Gallardo,M.E., Rodriguez de Cordoba,S. and
            Bovolenta,P.
  TITLE     Six9 (Optx2), a new member of the six gene family of transcription
            factors, is expressed at early stages of vertebrate ocular and
            pituitary development
  JOURNAL   Mech Dev 83 (1-2), 155-159 (1999)
   PUBMED   10381575
REFERENCE   10 (bases 1 to 2592)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049874.3 and BC065831.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_007374.2.
            
            Summary: The protein encoded by this gene is a homeobox protein
            that is similar to the Drosophila 'sine oculis' gene product. This
            gene is found in a cluster of related genes on chromosome 14 and is
            thought to be involved in eye development. Defects in this gene are
            a cause of isolated microphthalmia with cataract type 2 (MCOPCT2).
            [provided by RefSeq, Jul 2008].
            
            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 :: BC065831.1, AJ011785.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327720.6/ ENSP00000328596.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-74                AL049874.3         309-382
            75-1549             BC065831.1         1-1475
            1550-2592           AL049874.3         2971-4013
FEATURES             Location/Qualifiers
     source          1..2592
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..2592
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /note="SIX homeobox 6"
                     /db_xref="GeneID:4990"
                     /db_xref="HGNC:HGNC:10892"
                     /db_xref="MIM:606326"
     exon            1..825
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /inference="alignment:Splign:2.1.0"
     CDS             254..994
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /note="optic homeobox 2; sine oculis homeobox protein 6;
                     homeodomain protein OPTX2; sine oculis homeobox homolog 6;
                     sine oculis homeobox-like protein 6"
                     /codon_start=1
                     /product="homeobox protein SIX6"
                     /protein_id="NP_031400.2"
                     /db_xref="CCDS:CCDS9747.1"
                     /db_xref="GeneID:4990"
                     /db_xref="HGNC:HGNC:10892"
                     /db_xref="MIM:606326"
                     /translation="MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAAC
                     EALNKNESVLRARAIVAFHGGNYRELYHILENHKFTKESHAKLQALWLEAHYQEAEKL
                     RGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRHLLREWYLQDPYPNPSKKRE
                     LAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGSGRALRAEGDGTPEVLGV
                     ATSPAASLSSKAATSAISITSSDSECDI"
     exon            826..2592
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1389
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /note="major polyA site"
     regulatory      1515..1520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /note="hexamer: AATAAA"
     polyA_site      1553
                     /gene="SIX6"
                     /gene_synonym="MCOPCT2; ODRMD; OPTX2; Six9"
                     /note="major polyA site"
ORIGIN      
        1 aatagcggag ccagctcgcc tgccggcgtg cctgagccga gccgagcccg aaccccaagc
       61 cgcggagcca gcacctcctc cagtcggggt cgtccgctcc cggccgttga gccaccgccg
      121 ccacccggta gtgtgtcccg ctgccccaat ccgcctcatc aacaagcgcc tggcacactc
      181 agccaggccc gcgggcatct gctgcgtgtc ccgctccggg ctcagtgccc tcgccgccgc
      241 cggcactgcc tcgatgttcc agctgcccat cttgaatttc agcccccagc aagtggccgg
      301 ggtatgtgag accctggaag agagcggcga tgtggagcgc ctgggtcgct tcctctggtc
      361 gctgcccgtg gcccctgcgg cctgcgaggc cctcaacaag aatgagtcgg tgctacgcgc
      421 acgagccatc gtggcctttc acggtggcaa ctaccgcgag ctctatcata tcctggaaaa
      481 ccacaagttc accaaggagt cgcacgccaa gctgcaggcg ctgtggcttg aagcacacta
      541 ccaggaggct gagaagctgc gtggaagacc cctgggacct gtggacaagt accgagtaag
      601 gaagaagttc ccgctgccgc gcaccatttg ggacggcgaa cagaagacac actgcttcaa
      661 ggagcgcacg cggcacctgc tacgcgagtg gtacctgcag gatccatacc ctaaccccag
      721 caaaaaacgt gagctcgccc aggcaaccgg actgacccct acgcaggtgg gcaactggtt
      781 caaaaaccgc cgacaaaggg accgagcggc tgcagccaag aacagactcc agcagcaggt
      841 cctgtcacag ggttccgggc gggcactacg ggcggagggc gacggcacgc cagaggtgct
      901 gggcgtcgcc accagcccgg ccgccagtct atccagcaag gcggccactt cagccatctc
      961 catcacgtcc agcgacagcg agtgcgacat ctgagttgcc catccaggat gctcagaagc
     1021 agattccagt gtaaaaacga gaaaaacaaa atgaaagagg ggaagaagat gagagacctg
     1081 caaatccagc gccacagaag ccaggtgacc agggacccgc gggctcgggt tgccgtttcc
     1141 cgccccaccc cgcggccggc ctggcttcac tggcgccctt tggccgcgac cacgggaacc
     1201 agcggtgagg cctgacccag caccacgttc ttcttgcttt gctttttcct aaggattttg
     1261 ctgcaaagtc tccttcggaa cccgaactgc aagctgagcg cctgcccaga ttctcccatg
     1321 ggtatttcac gtcgaaagga cgctgttaca tatgtataac tttcgcttta aagttttttt
     1381 ttaacaaaac atatatatgc tgtttattta cttatttaag agaccgccat ggtaggtttc
     1441 tctgtagctt ggggaacttg ctgtttctaa acatgcaggc tggtggtgat gggttctgtg
     1501 tggagaagcc aaacaataaa acaacctagt gggcaacctt cttaattaag ggagctgctc
     1561 tcagattcct tttcttctta ttattattaa tatcattccc ttcaccaggc atgcagggac
     1621 ccttgagcaa atggtctccg gaaggtctta cctatatatc ttttgccttc tttggtgctt
     1681 cctggtatat gttttaaaca acctatggta ggtctataac cacctcccac gtcaaattac
     1741 acgtatgtgc atatatgtat gtacctatac aaacatatgt atgtacctat acaaacatat
     1801 gtatgtatgc atacacgtga tatatttaag gctagaaatt ggcaacatgt gagcgtcctc
     1861 tctaaggcaa gtccccgcat ccccagcaca ggtaattatg gcttgtccac ttgacactcg
     1921 tttacatgaa gtgtcaacag ctttcaggag caatttagga agccaaacta tgggactcaa
     1981 taagtgagtc ctattttcta aaaatgcaaa actatcctga ctcaggctct gcagcaagaa
     2041 aggctttctg tctccttcaa ggccccctcc aatacaaaag cagcaggcac ccatgatcat
     2101 gctagagtga gcatatactg catttaggat tgagctatta ttaaaataag acaaaagatg
     2161 atagaagagg ttgtaaataa ttagactaac atcttcttgc tgcagaattt ggttttaatc
     2221 aaatgaatgg tttttaacaa gagggatact gagatggggg aaaggatgta atcatgtcac
     2281 atactgaggg taaaacaagg ctgtagaaat aactggcatt ttaaaaacct aatctccgaa
     2341 ttaagcatag aacaagtcat caagggcctc attgtcctgg taatggcctc gattaaaaca
     2401 taaaatattt ttagcattta atttttcctc gtgcacatgc atgtatgcac ctatacatga
     2461 acaaatgcat gcatatacaa cgcaaaaaca tctaccatct ttgcactaag aaaataaatg
     2521 ctagccagag tctctaattt tgttcctagt gaaacagatt gcatattata aaatttgaca
     2581 ttgatcttta aa
//
