LOCUS       NM_005413               2533 bp    mRNA    linear   PRI 14-APR-2013
DEFINITION  Homo sapiens SIX homeobox 3 (SIX3), mRNA.
ACCESSION   NM_005413
VERSION     NM_005413.3  GI:261878476
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 2533)
  AUTHORS   Zuo,L., Zhang,F., Zhang,H., Zhang,X.Y., Wang,F., Li,C.S., Lu,L.,
            Hong,J., Lu,L., Krystal,J., Deng,H.W. and Luo,X.
  TITLE     Genome-wide search for replicable risk gene regions in alcohol and
            nicotine co-dependence
  JOURNAL   Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (4), 437-444
            (2012)
   PUBMED   22488850
REFERENCE   2  (bases 1 to 2533)
  AUTHORS   Roessler,E., Velez,J.I., Zhou,N. and Muenke,M.
  TITLE     Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF
            in holoprosencephaly probands to describe the parameters limiting
            the observed frequency of mutant genexgene interactions
  JOURNAL   Mol. Genet. Metab. 105 (4), 658-664 (2012)
   PUBMED   22310223
  REMARK    GeneRIF: Mutations in SIX3 is associated with holoprosencephaly.
REFERENCE   3  (bases 1 to 2533)
  AUTHORS   Mercier,S., Dubourg,C., Garcelon,N., Campillo-Gimenez,B.,
            Gicquel,I., Belleguic,M., Ratie,L., Pasquier,L., Loget,P.,
            Bendavid,C., Jaillard,S., Rochard,L., Quelin,C., Dupe,V., David,V.
            and Odent,S.
  TITLE     New findings for phenotype-genotype correlations in a large
            European series of holoprosencephaly cases
  JOURNAL   J. Med. Genet. 48 (11), 752-760 (2011)
   PUBMED   21940735
  REMARK    GeneRIF: There was a positive correlation between the severity of
            the brain malformation and facial features for SHH, SIX3, and TGIF,
            but no such correlation was found for ZIC2 mutations.
REFERENCE   4  (bases 1 to 2533)
  AUTHORS   Kim,Y.J., Go,M.J., Hu,C., Hong,C.B., Kim,Y.K., Lee,J.Y.,
            Hwang,J.Y., Oh,J.H., Kim,D.J., Kim,N.H., Kim,S., Hong,E.J.,
            Kim,J.H., Min,H., Kim,Y., Zhang,R., Jia,W., Okada,Y., Takahashi,A.,
            Kubo,M., Tanaka,T., Kamatani,N., Matsuda,K., Park,T., Oh,B.,
            Kimm,K., Kang,D., Shin,C., Cho,N.H., Kim,H.L., Han,B.G., Lee,J.Y.
            and Cho,Y.S.
  CONSRTM   MAGIC consortium
  TITLE     Large-scale genome-wide association studies in East Asians identify
            new genetic loci influencing metabolic traits
  JOURNAL   Nat. Genet. 43 (10), 990-995 (2011)
   PUBMED   21909109
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2533)
  AUTHORS   Mikkola,I., Bruun,J.A., Holm,T. and Johansen,T.
  TITLE     Superactivation of Pax6-mediated transactivation from paired
            domain-binding sites by dna-independent recruitment of different
            homeodomain proteins
  JOURNAL   J. Biol. Chem. 276 (6), 4109-4118 (2001)
   PUBMED   11069920
REFERENCE   6  (bases 1 to 2533)
  AUTHORS   Ohkura,N., Ohkubo,T., Maruyama,K., Tsukada,T. and Yamaguchi,K.
  TITLE     The orphan nuclear receptor NOR-1 interacts with the homeobox
            containing protein Six3
  JOURNAL   Dev. Neurosci. 23 (1), 17-24 (2001)
   PUBMED   11173923
REFERENCE   7  (bases 1 to 2533)
  AUTHORS   Wallis,D.E., Roessler,E., Hehr,U., Nanni,L., Wiltshire,T.,
            Richieri-Costa,A., Gillessen-Kaesbach,G., Zackai,E.H., Rommens,J.
            and Muenke,M.
  TITLE     Mutations in the homeodomain of the human SIX3 gene cause
            holoprosencephaly
  JOURNAL   Nat. Genet. 22 (2), 196-198 (1999)
   PUBMED   10369266
REFERENCE   8  (bases 1 to 2533)
  AUTHORS   Leppert,G.S., Yang,J.M. and Sundin,O.H.
  TITLE     Sequence and location of SIX3, a homeobox gene expressed in the
            human eye
  JOURNAL   Ophthalmic Genet. 20 (1), 7-21 (1999)
   PUBMED   10415461
REFERENCE   9  (bases 1 to 2533)
  AUTHORS   Granadino,B., Gallardo,M.E., Lopez-Rios,J., Sanz,R., Ramos,C.,
            Ayuso,C., Bovolenta,P. and Rodriguez de Cordoba,S.
  TITLE     Genomic cloning, structure, expression pattern, and chromosomal
            location of the human SIX3 gene
  JOURNAL   Genomics 55 (1), 100-105 (1999)
   PUBMED   9889003
REFERENCE   10 (bases 1 to 2533)
  AUTHORS   Hecht,B.K., Hecht,F. and Munke,M.
  TITLE     Forebrain cleavage gene causing holoprosencephaly: deletion mapping
            to chromosome band 2p21
  JOURNAL   Am. J. Med. Genet. 40 (1), 130 (1991)
   PUBMED   1887845
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ012611.1, BF570321.1,
            EL952320.1, AC012354.11, CD673488.1 and BM668514.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 23, 2009 this sequence version replaced gi:116686130.
            
            Summary: This gene encodes a member of the sine oculis homeobox
            transcription factor family. The encoded protein plays a role in
            eye development. Mutations in this gene have been associated with
            holoprosencephaly type 2. [provided by RefSeq, Oct 2009].
            
            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 :: AJ012611.1, BF569811.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1148              AJ012611.1         1-1148
            1149-1149           BF570321.1         188-188             c
            1150-1697           AJ012611.1         1150-1697
            1698-1757           EL952320.1         423-482
            1758-1902           AC012354.11        102886-103030
            1903-2517           CD673488.1         16-630              c
            2518-2533           BM668514.1         8-23                c
FEATURES             Location/Qualifiers
     source          1..2533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2533
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="SIX homeobox 3"
                     /db_xref="GeneID:6496"
                     /db_xref="HGNC:10889"
                     /db_xref="HPRD:04756"
                     /db_xref="MIM:603714"
     exon            1..1013
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /inference="alignment:Splign:1.39.8"
     STS             1..31
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /standard_name="AU048745"
                     /db_xref="UniSTS:145195"
     variation       5..6
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="gt"
                     /db_xref="dbSNP:142044497"
     STS             115..1448
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /db_xref="UniSTS:495216"
     CDS             208..1206
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="sine oculis homeobox homolog 3"
                     /codon_start=1
                     /product="homeobox protein SIX3"
                     /protein_id="NP_005404.1"
                     /db_xref="GI:4885597"
                     /db_xref="CCDS:CCDS1821.1"
                     /db_xref="GeneID:6496"
                     /db_xref="HGNC:10889"
                     /db_xref="HPRD:04756"
                     /db_xref="MIM:603714"
                     /translation="

MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGAGGGSGGGNGAGGGGAGGAGGGGGGGSRAPPEELSMFQLPTLNFSPEQVASVCETLEETGDIERLGRFLWSLPVAPGACEAINKHESILRARAVVAFHTGNFRDLYHILENHKFTKESHGKLQAMWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRSLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQHQAIGPSGMRSLAEPGCPTHGSAESPSTAASPTTSVSSLTERADTGTSILSVTSSDSECDV

"
     misc_feature    829..993
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(829..840,844..846,895..897,913..915,952..954,
                     958..963,970..975,979..987,991..993)
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(832..834,841..843,961..963,970..975,982..984)
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       225
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201997244"
     variation       234
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:13414404"
     variation       261
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199595730"
     variation       265
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200575650"
     variation       267
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370774455"
     variation       282
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374110392"
     variation       293
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:181010373"
     variation       297
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78018362"
     variation       303
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202214767"
     variation       316
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199823175"
     variation       413
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121917881"
     variation       426
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186163123"
     variation       488
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111843284"
     variation       513
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201451750"
     variation       546
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:137853021"
     variation       558
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199742584"
     variation       570
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376519917"
     variation       576
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200331042"
     variation       586
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372100479"
     variation       592
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:387906867"
     variation       706
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:387906868"
     variation       732
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116680477"
     variation       759
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200844888"
     variation       783
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182881"
     variation       837
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373300081"
     STS             839..964
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /standard_name="RH143896"
                     /db_xref="UniSTS:233142"
     variation       861
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377190737"
     variation       883
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:121917878"
     variation       927
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:191012035"
     variation       956
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121917880"
     variation       977
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:121917879"
     exon            1014..2523
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /inference="alignment:Splign:1.39.8"
     variation       1030
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373028825"
     variation       1031
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377320521"
     variation       1038
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370941478"
     variation       1110
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:78997509"
     variation       1149
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:338074"
     variation       1149
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369744582"
     variation       1154
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201922529"
     variation       1165
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370063753"
     variation       1168
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199795275"
     variation       1218
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373738994"
     variation       1235
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:13384798"
     variation       1236
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:13422228"
     variation       1306
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:188136435"
     STS             1356..1608
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /standard_name="Six3"
                     /db_xref="UniSTS:536466"
     variation       1366
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189838080"
     variation       1540
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149419358"
     variation       1541
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182403837"
     variation       1546
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368057246"
     variation       1547
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:57738927"
     variation       1565
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10204281"
     variation       1642
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143839203"
     variation       1661
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:148138906"
     variation       1682
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187833897"
     variation       1684
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:71422115"
     variation       1700
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141960898"
     variation       1739
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:58780722"
     variation       1780..1782
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="aaa"
                     /db_xref="dbSNP:58156346"
     variation       1782
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36076188"
     variation       1783..1786
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="ggac"
                     /db_xref="dbSNP:371727159"
     variation       1785
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2593333"
     variation       1786
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:149100716"
     variation       1787
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34030175"
     variation       1788
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:150046610"
     variation       1792
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:60528008"
     variation       1819
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147268199"
     variation       1841
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:530134"
     variation       1848
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:554228"
     variation       1864
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:61475963"
     variation       1870..1871
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:77134519"
     variation       1877
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114117244"
     variation       1882
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:530930"
     variation       1914
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34262678"
     variation       2050
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368604342"
     variation       2085
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:192407225"
     STS             2113..2356
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /standard_name="G65690"
                     /db_xref="UniSTS:225483"
     variation       2145
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11692857"
     variation       2173
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:185007423"
     variation       2228..2229
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace=""
                     /replace="aa"
                     /db_xref="dbSNP:71772311"
     variation       2232
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:13022334"
     variation       2279
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76480364"
     variation       2280
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188486933"
     variation       2318
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3180604"
     variation       2324
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3180405"
     variation       2358
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3180404"
     variation       2361
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3180605"
     variation       2367
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3180606"
     variation       2370
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3180607"
     variation       2371
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:62131237"
     variation       2383
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3180608"
     variation       2389
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:338073"
     variation       2390
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3180609"
     variation       2392
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3180610"
     variation       2506
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192925937"
     variation       2517
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184862757"
     polyA_site      2523
                     /gene="SIX3"
                     /gene_synonym="HPE2"
ORIGIN      

gcgggtgtgtgtgtgtgtggatgtgtgtggggtgtgggtgtcccttacgcccttcctcctctccctcctcctcctgctcccccctcctttccttctcctcctcccccctctcctctccctcctcctggtcctcatcgcccctctcctcctcttcctcccctctctcttcctctccctgaattttctcctctcctctcaggtcagtccatggtattccgctcccccctagacctctattcctcccacttcttgttgccaaacttcgccgattctcaccaccgctccatacttctggcgagtagcggcggcgggaacggtgcgggaggcggcggcggcgcgggaggcggcagcggcggcgggaacggtgcgggaggcggcggtgctggcggagcaggcggcggcggcggcggcggctccagggcccccccggaagagttgtccatgttccagctgcccaccctcaacttctcgccggagcaggtggccagcgtctgtgagacgctggaggagacgggcgacatcgagcggctgggccgcttcctctggtcgctgcccgtggcccccggggcgtgcgaggccatcaacaaacacgagtcgatcctgcgcgcgcgcgccgtggtcgccttccacacgggcaacttccgcgacctctaccacatccttgagaaccacaagttcaccaaggagtctcacggcaagctgcaggccatgtggctcgaggcgcactaccaggaggccgagaagctgcgcggccgcccactcggcccggtggacaagtaccgcgtgcgcaagaagttcccgctgccacgcaccatctgggacggcgagcagaagacgcattgcttcaaggagcggactcggagcctgttgcgggagtggtacctacaggacccctaccccaaccccagcaagaaacgcgaactggcgcaggccaccggcctcactcccacacaagtaggcaactggtttaagaaccggcggcagcgcgaccgcgccgcggcggccaagaacaggctccagcaccaggccattggaccgagcggcatgcgctcgctggccgagcccggctgccccacgcacggctcggcagagtcgccgtccacggcggccagcccgaccaccagcgtgtccagcctgacggagcgcgcagacaccggcacctccatcctctcggtaacctccagcgactcggaatgtgatgtatgatagccaaggccgccctcctccctctccttcccctcctcccccactccttcccctccgcctcctagccctcctcctcttcctcctcttccttctcctcctccatccccagaacaaaccgaaatcaggatacccaaccatacacacatacaagtccacacacactcccaccccagccaaaaatatataaaaaacaagaaaataacaaattaaccgcaaactatcaacaacccccaaccaccatctaccactacggccaccccaaaggaccccgacgccaacagacagtcaaacgctgatgttgcgggcagaaaacataaaagaggtgacaattgtatactttctaggacaagcacggcttctcctttcggttcccatggacccggcaccccacctgcatgacgatttatttgtatctgggaaaatattctctctagttaaaaatgatttaaagagtcgactatacaaaaatcaatcaccaccacgaggacaagagggcaaaagcaaaacagacaaaaagaaaaaaaatcgccgtctccgttccgaatttgttaaaaaaaaaaaaaaaaaaaaaaaaaaggacagggggaaaaaaaaaaaaaaagaactcctggagagggaaatagcaaatgtgtcttgccttttgttgctctctctctctttttttttctctcgctctctttctttctcttcttctctctgtttttaagtcaagtattggtcaaaaaaatgcaatcttctgttttttgttcagcagacaatcattttcttcgtaagcacctttttctctccactctgtcactgcctgtgtgggtactggttataaatgtggaaaaagaatagttatgactgtaacagatttttatttttatttcaaaattttatatgaattatgtatatcttaatgatcggtcattttcccagtttgtaatatatgtgtagaaattgcctgtatatgatattgctttttctcctctccctttctctttctctcctctccctctctctgtctttctccccgctcaactgtctcttttctttttggggttctcctcccactcggtgctcctggtgtcgacttggcagtcaaggagaggcatggtggcctgggttaggaagagggaccctgtcgctagcaaaagcggagagtgagattgtagtattcttatgcaaaagctatttccagtatttcttagcagcttcagaggtatctctcactccctgtagggcgcttttactgttatcttaaactgcgtgtttatctatatgtaaaaactttctaaagcaaatacagtattctccattttcttatcactcccaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:6496 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:6496 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:6496 -> Biological process: GO:0006606 [protein import into nucleus] evidence: IEA
            GeneID:6496 -> Biological process: GO:0007420 [brain development] evidence: TAS
            GeneID:6496 -> Biological process: GO:0007601 [visual perception] evidence: TAS
            GeneID:6496 -> Biological process: GO:0021536 [diencephalon development] evidence: IEA
            GeneID:6496 -> Biological process: GO:0021537 [telencephalon development] evidence: IEA
            GeneID:6496 -> Biological process: GO:0021797 [forebrain anterior/posterior pattern specification] evidence: IEA
            GeneID:6496 -> Biological process: GO:0030178 [negative regulation of Wnt receptor signaling pathway] evidence: IEA
            GeneID:6496 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA
            GeneID:6496 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:6496 -> Biological process: GO:0048512 [circadian behavior] evidence: IEA
            GeneID:6496 -> Biological process: GO:0060235 [lens induction in camera-type eye] evidence: IEA
            GeneID:6496 -> Cellular component: GO:0005634 [nucleus] evidence: IEA