LOCUS       NM_016932               2206 bp    mRNA    linear   PRI 22-FEB-2025
DEFINITION  Homo sapiens SIX homeobox 2 (SIX2), mRNA.
ACCESSION   NM_016932
VERSION     NM_016932.5
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 2206)
  AUTHORS   Arcolino,F.O., Hosgood,S., Akalay,S., Jordan,N., Herman,J.,
            Elliott,T., Veys,K., Vermeire,K., Sprangers,B., Nicholson,M., van
            den Heuvel,L. and Levtchenko,E.
  TITLE     De novo SIX2 activation in human kidneys treated with neonatal
            kidney stem/progenitor cells
  JOURNAL   Am J Transplant 22 (12), 2791-2803 (2022)
   PUBMED   35913414
  REMARK    GeneRIF: De novo SIX2 activation in human kidneys treated with
            neonatal kidney stem/progenitor cells.
REFERENCE   2  (bases 1 to 2206)
  AUTHORS   Ciceri,S., Montalvao-de-Azevedo,R., Tajbakhsh,A., Bertolotti,A.,
            Spagnuolo,R.D., Boschetti,L., Capasso,M., D'Angelo,P., Serra,A.,
            Diomedi-Camassei,F., Meli,M., Nantron,M., Quarello,P.,
            Buccoliero,A.M., Tamburini,A., Ciniselli,C.M., Verderio,P.,
            Collini,P., Radice,P., Spreafico,F. and Perotti,D.
  TITLE     Analysis of the mutational status of SIX1/2 and microRNA processing
            genes in paired primary and relapsed Wilms tumors and association
            with relapse
  JOURNAL   Cancer Gene Ther 28 (9), 1016-1024 (2021)
   PUBMED   33281191
  REMARK    GeneRIF: Analysis of the mutational status of SIX1/2 and microRNA
            processing genes in paired primary and relapsed Wilms tumors and
            association with relapse.
REFERENCE   3  (bases 1 to 2206)
  AUTHORS   Jiang,Y., Zhou,B., Liang,B., Zeng,F. and Zou,Z.
  TITLE     Overexpression of Sine Oculis Homeobox Homolog 2 Predicts Poor
            Survival and Clinical Parameters of Patients with Colon
            Adenocarcinoma
  JOURNAL   Ann Clin Lab Sci 50 (6), 717-725 (2020)
   PUBMED   33334785
  REMARK    GeneRIF: Overexpression of Sine Oculis Homeobox Homolog 2 Predicts
            Poor Survival and Clinical Parameters of Patients with Colon
            Adenocarcinoma.
REFERENCE   4  (bases 1 to 2206)
  AUTHORS   Alkhunaizi,E., Unger,S., Shannon,P., Nishimura,G., Blaser,S. and
            Chitayat,D.
  TITLE     Maternal SLE and brachytelephalangic chondrodysplasia punctata in a
            patient with unrelated de novo RAF1 and SIX2 variants
  JOURNAL   Am J Med Genet A 182 (7), 1807-1811 (2020)
   PUBMED   32506814
  REMARK    GeneRIF: Maternal SLE and brachytelephalangic chondrodysplasia
            punctata in a patient with unrelated de novo RAF1 and SIX2
            variants.
REFERENCE   5  (bases 1 to 2206)
  AUTHORS   Velazco-Cruz,L., Goedegebuure,M.M., Maxwell,K.G.,
            Augsornworawat,P., Hogrebe,N.J. and Millman,J.R.
  TITLE     SIX2 Regulates Human beta Cell Differentiation from Stem Cells and
            Functional Maturation In Vitro
  JOURNAL   Cell Rep 31 (8), 107687 (2020)
   PUBMED   32460030
  REMARK    GeneRIF: SIX2 Regulates Human beta Cell Differentiation from Stem
            Cells and Functional Maturation In Vitro.
REFERENCE   6  (bases 1 to 2206)
  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   7  (bases 1 to 2206)
  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 2206)
  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 2206)
  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 2206)
  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 AC012354.11, AF332197.1,
            BC024033.2, AI697804.1 and AI299144.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016932.4.
            
            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].
            
            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 :: AF332197.1, BC024033.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303077.7/ ENSP00000304502.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AC012354.11        166978-167026       c
            50-995              AF332197.1         1-946
            996-1840            BC024033.2         927-1771
            1841-2185           AI697804.1         1-345               c
            2186-2203           AI299144.1         25-42               c
            2204-2206           AC012354.11        162756-162758       c
FEATURES             Location/Qualifiers
     source          1..2206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2206
                     /gene="SIX2"
                     /note="SIX homeobox 2"
                     /db_xref="GeneID:10736"
                     /db_xref="HGNC:HGNC:10888"
                     /db_xref="MIM:604994"
     exon            1..902
                     /gene="SIX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             343..1218
                     /gene="SIX2"
                     /note="sine oculis homeobox homolog 2"
                     /codon_start=1
                     /product="homeobox protein SIX2"
                     /protein_id="NP_058628.3"
                     /db_xref="CCDS:CCDS1822.1"
                     /db_xref="GeneID:10736"
                     /db_xref="HGNC:HGNC:10888"
                     /db_xref="MIM:604994"
                     /translation="MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLH
                     KNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRP
                     LGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELAEA
                     TGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTP
                     SGTPDHSSSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQD
                     SILNPMSANLVDLGS"
     exon            903..2206
                     /gene="SIX2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX2"
                     /note="hexamer: AATAAA"
     polyA_site      1483
                     /gene="SIX2"
                     /note="major polyA site"
     regulatory      2162..2167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX2"
                     /note="hexamer: AATAAA"
     regulatory      2185..2190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIX2"
                     /note="hexamer: TATAAA"
     polyA_site      2203
                     /gene="SIX2"
                     /note="major polyA site"
     polyA_site      2206
                     /gene="SIX2"
ORIGIN      
        1 aagaaagctg agagccagct agacgggagg gagaacgagt gagaagcgag cgagggaacg
       61 gcgggcgggc gcggagcatg cggagcggcg ccccgggcgg cccccgggct tgggcgaggg
      121 cttgggccag gcgcgcgggc cgttggggtt cggagcttcg tgggacccgc ggccggcgcg
      181 gggacgtacg gcagtgactc ggggctcacc gggggccagt gccgggccag ggggccagcc
      241 ccgcccgcgt ctcggcccgg acggcccggc gaggaagctc ccatgcggga ccgcgcggcc
      301 cggtgagggc gcgcgcgggc gggcggggac gcagccggca ccatgtccat gctgcccacc
      361 ttcggcttca cgcaggagca agtggcgtgc gtgtgcgagg tgctgcagca gggcggcaac
      421 atcgagcggc tgggccgctt cctgtggtcg ctgcccgcct gcgagcacct tcacaagaat
      481 gaaagcgtgc tcaaggccaa ggccgtggtg gccttccacc gcggcaactt ccgcgagctc
      541 tacaagatcc tggagagcca ccagttctcg ccgcacaacc acgccaagct gcagcagctg
      601 tggctcaagg cacactacat cgaggcggag aagctgcgcg gccgacccct gggcgccgtg
      661 ggcaaatacc gcgtgcgccg caaattcccg ctgccgcgct ccatctggga cggcgaggag
      721 accagctact gcttcaagga aaagagtcgc agcgtgctgc gcgagtggta cgcgcacaac
      781 ccctaccctt caccccgcga gaagcgtgag ctggcggagg ccacgggcct caccaccaca
      841 caggtcagca actggttcaa gaaccggcgg cagcgcgacc gggcggccga ggccaaggaa
      901 agggagaaca acgagaactc caattctaac agccacaacc cgctgaatgg cagcggcaag
      961 tcggtgttag gcagctcgga ggatgagaag actccatcgg ggacgccaga ccactcatca
     1021 tccagccccg cactgctcct cagcccgccg ccccctgggc tgccgtccct gcacagcctg
     1081 ggccaccctc cgggccccag cgcagtgcca gtgccggtgc caggcggagg tggagcggac
     1141 ccactgcaac accaccatgg cctgcaggac tccatcctca accccatgtc agccaacctc
     1201 gtggacctgg gctcctagaa cccatttgcc ttgatgagct tgccttttgt gacttgacac
     1261 tggggacgtg gagtggcggt gtccaggggc gccccgcccc tgcggcccca ccaggtactg
     1321 aaagacccgc aggctgagcg ggtagaacag ccgggtaggg cagatagctg tctatgttgg
     1381 ttcttgtttg ggatttattt tcaacaagtt acttttagga tccttttggg gctggagact
     1441 gagtcttgaa ccacagaagg gaataaatta tacaccactg tcattctctc tctccctctg
     1501 tctcttcctt ttaccctctc ttgtcttgcc ttttccccct ttcctcttcc tttcccttcc
     1561 ttctcttttc ttttttctgc tttctgtctt tctccctctc cttgtattgc tttccttcta
     1621 gatttctagc ttgccaccgt tcattctctc cttctgtctc tccctttctc tctccttctc
     1681 tgtttctcct ctcttctctc ctgccagtct cttgtactct gtgtcctggt ccctccgtat
     1741 gtacccctgt ctttctcctc ctgactggtg gtctatctgc ccctacctct ggccctcgct
     1801 ttaccggagt agggggtggg agagggaaga ggagagaaaa tacagggact ttgaacctag
     1861 gccatctcct gaggcctttt ccctcgccca tgtgggtcag tgggagctgc aggtgtcagc
     1921 ttttcgtcta gtaacttaag tgagagagaa agggcagcgc cacagaagcc cctaaacgcc
     1981 gcctcgtcat acgcccctcc tccttctctc ttggcgaggc cccgccacac cgcgctcttc
     2041 ctcccgggac tgtgactaca gcgctcccgg ctgagcgcgc cccccgagcc gccgacttgc
     2101 cgtctccccg taatgccctc atgtgaatgt tcttcgggaa atatttctgc ttttatttta
     2161 taataaaatt agaaatcata aatatataaa tggttatatg ccacaa
//
