GGRNA | NM_016932.4

LOCUS       NM_016932               2178 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens SIX homeobox 2 (SIX2), mRNA.
ACCESSION   NM_016932
VERSION     NM_016932.4  GI:219275577
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 2178)
  AUTHORS   Murphy,A.J., Pierce,J., de Caestecker,C., Taylor,C., Anderson,J.R.,
            Perantoni,A.O., de Caestecker,M.P. and Lovvorn,H.N. III.
  TITLE     SIX2 and CITED1, markers of nephronic progenitor self-renewal,
            remain active in primitive elements of Wilms' tumor
  JOURNAL   J. Pediatr. Surg. 47 (6), 1239-1249 (2012)
   PUBMED   22703800
  REMARK    GeneRIF: Nuclear protein & mRNA expression of SIX2 were similar
            across all stages of disease, in favorable or unfavorable histology
            & in treatment failure or success. It is not found in normal
            kidney.
REFERENCE   2  (bases 1 to 2178)
  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   3  (bases 1 to 2178)
  AUTHORS   Monks,D.C., Jahangir,A., Shanske,A.L., Samanich,J., Morrow,B.E. and
            Babcock,M.
  TITLE     Mutational analysis of HOXA2 and SIX2 in a Bronx population with
            isolated microtia
  JOURNAL   Int. J. Pediatr. Otorhinolaryngol. 74 (8), 878-882 (2010)
   PUBMED   20542577
  REMARK    GeneRIF: Lack of mutations in the coding regions of SIX2 among the
            sporadic microtia patients
REFERENCE   4  (bases 1 to 2178)
  AUTHORS   Kumar,J.P.
  TITLE     The sine oculis homeobox (SIX) family of transcription factors as
            regulators of development and disease
  JOURNAL   Cell. Mol. Life Sci. 66 (4), 565-583 (2009)
   PUBMED   18989625
  REMARK    Review article
REFERENCE   5  (bases 1 to 2178)
  AUTHORS   Weber,S., Taylor,J.C., Winyard,P., Baker,K.F., Sullivan-Brown,J.,
            Schild,R., Knuppel,T., Zurowska,A.M., Caldas-Alfonso,A., Litwin,M.,
            Emre,S., Ghiggeri,G.M., Bakkaloglu,A., Mehls,O., Antignac,C.,
            Network,E., Schaefer,F. and Burdine,R.D.
  TITLE     SIX2 and BMP4 mutations associate with anomalous kidney development
  JOURNAL   J. Am. Soc. Nephrol. 19 (5), 891-903 (2008)
   PUBMED   18305125
  REMARK    GeneRIF: Defects in these proteins could affect kidney development
            at multiple stages, leading to the congenital anomalies observed in
            patients with renal hypodysplasia
REFERENCE   6  (bases 1 to 2178)
  AUTHORS   Christensen,K.L., Patrick,A.N., McCoy,E.L. and Ford,H.L.
  TITLE     The six family of homeobox genes in development and cancer
  JOURNAL   Adv. Cancer Res. 101, 93-126 (2008)
   PUBMED   19055944
  REMARK    Review article
REFERENCE   7  (bases 1 to 2178)
  AUTHORS   Buller,C., Xu,X., Marquis,V., Schwanke,R. and Xu,P.X.
  TITLE     Molecular effects of Eya1 domain mutations causing organ defects in
            BOR syndrome
  JOURNAL   Hum. Mol. Genet. 10 (24), 2775-2781 (2001)
   PUBMED   11734542
REFERENCE   8  (bases 1 to 2178)
  AUTHORS   Boucher,C.A., Winchester,C.L., Hamilton,G.M., Winter,A.D.,
            Johnson,K.J. and Bailey,M.E.
  TITLE     Structure, mapping and expression of the human gene encoding the
            homeodomain protein, SIX2
  JOURNAL   Gene 247 (1-2), 145-151 (2000)
   PUBMED   10773454
REFERENCE   9  (bases 1 to 2178)
  AUTHORS   Celli,J., van Beusekom,E., Hennekam,R.C., Gallardo,M.E.,
            Smeets,D.F., de Cordoba,S.R., Innis,J.W., Frydman,M., Konig,R.,
            Kingston,H., Tolmie,J., Govaerts,L.C., van Bokhoven,H. and
            Brunner,H.G.
  TITLE     Familial syndromic esophageal atresia maps to 2p23-p24
  JOURNAL   Am. J. Hum. Genet. 66 (2), 436-444 (2000)
   PUBMED   10677303
REFERENCE   10 (bases 1 to 2178)
  AUTHORS   Kawakami,K., Ohto,H., Takizawa,T. and Saito,T.
  TITLE     Identification and expression of six family genes in mouse retina
  JOURNAL   FEBS Lett. 393 (2-3), 259-263 (1996)
   PUBMED   8814301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF332197.1, BC024033.2,
            AI697804.1 and AI299144.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 1, 2009 this sequence version replaced gi:34147624.
            
            Summary: This gene is a member of the vertebrate gene family which
            encode proteins homologous to the Drosophila 'sine oculis' homeobox
            protein. The encoded protein is a transcription factor which, like
            other members of this gene family, may be involved in limb or eye
            development. [provided by RefSeq, Dec 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF332197.1, BC024033.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-946               AF332197.1         1-946
            947-1791            BC024033.2         927-1771
            1792-2136           AI697804.1         1-345               c
            2137-2178           AI299144.1         1-42                c
FEATURES             Location/Qualifiers
     source          1..2178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2178
                     /gene="SIX2"
                     /note="SIX homeobox 2"
                     /db_xref="GeneID:10736"
                     /db_xref="HGNC:10888"
                     /db_xref="MIM:604994"
     exon            1..853
                     /gene="SIX2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    255..257
                     /gene="SIX2"
                     /note="upstream in-frame stop codon"
     CDS             294..1169
                     /gene="SIX2"
                     /note="sine oculis homeobox homolog 2"
                     /codon_start=1
                     /product="homeobox protein SIX2"
                     /protein_id="NP_058628.3"
                     /db_xref="GI:219275578"
                     /db_xref="CCDS:CCDS1822.1"
                     /db_xref="GeneID:10736"
                     /db_xref="HGNC:10888"
                     /db_xref="MIM:604994"
                     /translation="

MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHSSSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS

"
     misc_feature    684..815
                     /gene="SIX2"
                     /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(801..803,810..815)
                     /gene="SIX2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       546
                     /gene="SIX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11540435"
     exon            854..2154
                     /gene="SIX2"
                     /inference="alignment:Splign:1.39.8"
     STS             866..1678
                     /gene="SIX2"
                     /standard_name="SIX2_2180"
                     /db_xref="UniSTS:280997"
     variation       880
                     /gene="SIX2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200287647"
     variation       1650
                     /gene="SIX2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2290029"
     variation       1792
                     /gene="SIX2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2290030"
ORIGIN

gcgagggaacggcgggcgggcgcggagcatgcggagcggcgccccgggcggcccccgggcttgggcgagggcttgggccaggcgcgcgggccgttggggttcggagcttcgtgggacccgcggccggcgcggggacgtacggcagtgactcggggctcaccgggggccagtgccgggccagggggccagccccgcccgcgtctcggcccggacggcccggcgaggaagctcccatgcgggaccgcgcggcccggtgagggcgcgcgcgggcgggcggggacgcagccggcaccatgtccatgctgcccaccttcggcttcacgcaggagcaagtggcgtgcgtgtgcgaggtgctgcagcagggcggcaacatcgagcggctgggccgcttcctgtggtcgctgcccgcctgcgagcaccttcacaagaatgaaagcgtgctcaaggccaaggccgtggtggccttccaccgcggcaacttccgcgagctctacaagatcctggagagccaccagttctcgccgcacaaccacgccaagctgcagcagctgtggctcaaggcacactacatcgaggcggagaagctgcgcggccgacccctgggcgccgtgggcaaataccgcgtgcgccgcaaattcccgctgccgcgctccatctgggacggcgaggagaccagctactgcttcaaggaaaagagtcgcagcgtgctgcgcgagtggtacgcgcacaacccctacccttcaccccgcgagaagcgtgagctggcggaggccacgggcctcaccaccacacaggtcagcaactggttcaagaaccggcggcagcgcgaccgggcggccgaggccaaggaaagggagaacaacgagaactccaattctaacagccacaacccgctgaatggcagcggcaagtcggtgttaggcagctcggaggatgagaagactccatcggggacgccagaccactcatcatccagccccgcactgctcctcagcccgccgccccctgggctgccgtccctgcacagcctgggccaccctccgggccccagcgcagtgccagtgccggtgccaggcggaggtggagcggacccactgcaacaccaccatggcctgcaggactccatcctcaaccccatgtcagccaacctcgtggacctgggctcctagaacccatttgccttgatgagcttgccttttgtgacttgacactggggacgtggagtggcggtgtccaggggcgccccgcccctgcggccccaccaggtactgaaagacccgcaggctgagcgggtagaacagccgggtagggcagatagctgtctatgttggttcttgtttgggatttattttcaacaagttacttttaggatccttttggggctggagactgagtcttgaaccacagaagggaataaattatacaccactgtcattctctctctccctctgtctcttccttttaccctctcttgtcttgccttttccccctttcctcttcctttcccttccttctcttttcttttttctgctttctgtctttctccctctccttgtattgctttccttctagatttctagcttgccaccgttcattctctccttctgtctctccctttctctctccttctctgtttctcctctcttctctcctgccagtctcttgtactctgtgtcctggtccctccgtatgtacccctgtctttctcctcctgactggtggtctatctgcccctacctctggccctcgctttaccggagtagggggtgggagagggaagaggagagaaaatacagggactttgaacctaggccatctcctgaggccttttccctcgcccatgtgggtcagtgggagctgcaggtgtcagcttttcgtctagtaacttaagtgagagagaaagggcagcgccacagaagcccctaaacgccgcctcgtcatacgcccctcctccttctctcttggcgaggccccgccacaccgcgctcttcctcccgggactgtgactacagcgctcccggctgagcgcgccccccgagccgccgacttgccgtctccccgtaatgccctcatgtgaatgttcttcgggaaatatttctgcttttattttataataaaattagaaatcataaatatataaatggttatatgccaaaaaaaaaaaaaaaaaaaaaaaaa

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