GGRNA | NM_001172509.1

LOCUS       NM_001172509            5730 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.
ACCESSION   NM_001172509
VERSION     NM_001172509.1  GI:289547595
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 5730)
  AUTHORS   Zhou,L.Q., Wu,J., Wang,W.T., Yu,W., Zhao,G.N., Zhang,P., Xiong,J.,
            Li,M., Xue,Z., Wang,X., Xie,X.M., Guo,Z.C., Lv,X. and Liu,D.P.
  TITLE     The AT-rich DNA-binding protein SATB2 promotes expression and
            physical association of human (G)gamma- and (A)gamma-globin genes
  JOURNAL   J. Biol. Chem. 287 (36), 30641-30652 (2012)
   PUBMED   22825848
  REMARK    GeneRIF: results establish SATB2 as a novel gamma-globin gene
            regulator and provide a glimpse of the differential and cooperative
            roles of SATB family proteins in modulating clustered genes
            transcription
REFERENCE   2  (bases 1 to 5730)
  AUTHORS   Wei,J.D., Lin,Y.L., Tsai,C.H., Shieh,H.S., Lin,P.I., Ho,W.P. and
            Chen,R.M.
  TITLE     SATB2 participates in regulation of menadione-induced apoptotic
            insults to osteoblasts
  JOURNAL   J. Orthop. Res. 30 (7), 1058-1066 (2012)
   PUBMED   22570222
  REMARK    GeneRIF: SATB2 may play a crucial role in protecting against
            oxidative stress-induced osteoblast apoptosis.
REFERENCE   3  (bases 1 to 5730)
  AUTHORS   Liu,T.R., Xu,L.H., Yang,A.K., Zhong,Q., Song,M., Li,M.Z., Hu,L.J.,
            Chen,F.J., Hu,Z.D., Han,P. and Zeng,M.S.
  TITLE     Decreased expression of SATB2: a novel independent prognostic
            marker of worse outcome in laryngeal carcinoma patients
  JOURNAL   PLoS ONE 7 (7), E40704 (2012)
   PUBMED   22815795
  REMARK    GeneRIF: SATB2 might involve in the development and progression of
            laryngeal squamous cell carcinoma.
REFERENCE   4  (bases 1 to 5730)
  AUTHORS   Chung,J., Grant,R.I., Kaplan,D.R. and Irwin,M.S.
  TITLE     Special AT-rich binding protein-2 (SATB2) differentially affects
            disease-causing p63 mutant proteins
  JOURNAL   J. Biol. Chem. 286 (47), 40671-40680 (2011)
   PUBMED   21965674
  REMARK    GeneRIF: SATB2 as the first p63 binding partner that differentially
            influences AEC and EEC p63 mutant proteins
REFERENCE   5  (bases 1 to 5730)
  AUTHORS   Magnusson,K., de Wit,M., Brennan,D.J., Johnson,L.B., McGee,S.F.,
            Lundberg,E., Naicker,K., Klinger,R., Kampf,C., Asplund,A.,
            Wester,K., Gry,M., Bjartell,A., Gallagher,W.M., Rexhepaj,E.,
            Kilpinen,S., Kallioniemi,O.P., Belt,E., Goos,J., Meijer,G.,
            Birgisson,H., Glimelius,B., Borrebaeck,C.A., Navani,S., Uhlen,M.,
            O'Connor,D.P., Jirstrom,K. and Ponten,F.
  TITLE     SATB2 in combination with cytokeratin 20 identifies over 95% of all
            colorectal carcinomas
  JOURNAL   Am. J. Surg. Pathol. 35 (7), 937-948 (2011)
   PUBMED   21677534
  REMARK    GeneRIF: SATB2 in combination with cytokeratin 20 identifies over
            95% of all colorectal carcinomas.
REFERENCE   6  (bases 1 to 5730)
  AUTHORS   Rosenfeld,J.A., Ballif,B.C., Lucas,A., Spence,E.J., Powell,C.,
            Aylsworth,A.S., Torchia,B.A. and Shaffer,L.G.
  TITLE     Small deletions of SATB2 cause some of the clinical features of the
            2q33.1 microdeletion syndrome
  JOURNAL   PLoS ONE 4 (8), E6568 (2009)
   PUBMED   19668335
  REMARK    GeneRIF: results suggest that deletion of SATB2 is responsible for
            several of the clinical features associated with 2q32q33
            microdeletion syndrome
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5730)
  AUTHORS   Beaty,T.H., Hetmanski,J.B., Fallin,M.D., Park,J.W., Sull,J.W.,
            McIntosh,I., Liang,K.Y., Vanderkolk,C.A., Redett,R.J.,
            Boyadjiev,S.A., Jabs,E.W., Chong,S.S., Cheah,F.S., Wu-Chou,Y.H.,
            Chen,P.K., Chiu,Y.F., Yeow,V., Ng,I.S., Cheng,J., Huang,S., Ye,X.,
            Wang,H., Ingersoll,R. and Scott,A.F.
  TITLE     Analysis of candidate genes on chromosome 2 in oral cleft
            case-parent trios from three populations
  JOURNAL   Hum. Genet. 120 (4), 501-518 (2006)
   PUBMED   16953426
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 5730)
  AUTHORS   Vieira,A.R., Avila,J.R., Daack-Hirsch,S., Dragan,E., Felix,T.M.,
            Rahimov,F., Harrington,J., Schultz,R.R., Watanabe,Y., Johnson,M.,
            Fang,J., O'Brien,S.E., Orioli,I.M., Castilla,E.E.,
            Fitzpatrick,D.R., Jiang,R., Marazita,M.L. and Murray,J.C.
  TITLE     Medical sequencing of candidate genes for nonsyndromic cleft lip
            and palate
  JOURNAL   PLoS Genet. 1 (6), E64 (2005)
   PUBMED   16327884
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 5730)
  AUTHORS   Dobreva,G., Dambacher,J. and Grosschedl,R.
  TITLE     SUMO modification of a novel MAR-binding protein, SATB2, modulates
            immunoglobulin mu gene expression
  JOURNAL   Genes Dev. 17 (24), 3048-3061 (2003)
   PUBMED   14701874
REFERENCE   10 (bases 1 to 5730)
  AUTHORS   FitzPatrick,D.R., Carr,I.M., McLaren,L., Leek,J.P., Wightman,P.,
            Williamson,K., Gautier,P., McGill,N., Hayward,C., Firth,H.,
            Markham,A.F., Fantes,J.A. and Bonthron,D.T.
  TITLE     Identification of SATB2 as the cleft palate gene on 2q32-q33
  JOURNAL   Hum. Mol. Genet. 12 (19), 2491-2501 (2003)
   PUBMED   12915443
  REMARK    GeneRIF: SATB2 is identified as the cleft palate gene on chromosome
            pair 2 which undergoes translocation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK056638.1 and AC016746.8.
            
            Summary: This gene encodes a DNA binding protein that specifically
            binds nuclear matrix attachment regions. The encoded protein is
            involved in transcription regulation and chromatin remodeling.
            Defects in this gene are associated with isolated cleft palate and
            mental retardation. Alternate splicing results in multiple
            transcript variants that encode the same protein. [provided by
            RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK056638.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1471              AK056638.1         2-1472
            1472-1472           AC016746.8         136075-136075       c
            1473-3369           AK056638.1         1474-3370
            3370-5730           AC016746.8         36925-39285         c
FEATURES             Location/Qualifiers
     source          1..5730
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33"
     gene            1..5730
                     /gene="SATB2"
                     /note="SATB homeobox 2"
                     /db_xref="GeneID:23314"
                     /db_xref="HGNC:21637"
                     /db_xref="MIM:608148"
     exon            1..758
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    638..640
                     /gene="SATB2"
                     /note="upstream in-frame stop codon"
     exon            759..986
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     CDS             818..3019
                     /gene="SATB2"
                     /note="SATB family member 2; special AT-rich
                     sequence-binding protein 2"
                     /codon_start=1
                     /product="DNA-binding protein SATB2"
                     /protein_id="NP_001165980.1"
                     /db_xref="GI:289547596"
                     /db_xref="CCDS:CCDS2327.1"
                     /db_xref="GeneID:23314"
                     /db_xref="HGNC:21637"
                     /db_xref="MIM:608148"
                     /translation="

MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALGYSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTYYANVSATKCQEFGRWYKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSPQLSPQLVRQQIAMAHLINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEVSPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQNFLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKENPSPENRTLWENLCTIRRFLNLPQHERDVIYEEESRHHHSERMQHVVQLPPEPVQVLHRQQSQPAKESSPPREEAPPPPPPTEDSCAKKPRSRTKISLEALGILQSFIHDVGLYPDQEAIHTLSAQLDLPKHTIIKFFQNQRYHVKHHGKLKEHLGSAVDVAEYKDEELLTESEENDSEEGSEEMYKVEAEEENADKSKAAPAEIDQR

"
     misc_feature    995..1282
                     /gene="SATB2"
                     /note="N-terminal domain of SATB1 and similar proteins;
                     Region: SATB1_N; cd11585"
                     /db_xref="CDD:211426"
     misc_feature    order(998..1000,1004..1006,1055..1069,1073..1075,
                     1169..1171,1175..1177,1184..1189,1205..1216,1238..1243,
                     1250..1258,1262..1267)
                     /gene="SATB2"
                     /note="tetramer interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:211426"
     misc_feature    1871..2128
                     /gene="SATB2"
                     /note="CUT domain; Region: CUT; pfam02376"
                     /db_xref="CDD:202226"
     misc_feature    2240..2485
                     /gene="SATB2"
                     /note="CUT domain; Region: CUT; pfam02376"
                     /db_xref="CDD:202226"
     misc_feature    2660..2839
                     /gene="SATB2"
                     /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(2660..2674,2678..2680,2732..2734,2750..2752,
                     2789..2791,2795..2800,2807..2812,2816..2824,2828..2833)
                     /gene="SATB2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(2666..2668,2675..2677,2798..2800,2807..2812,
                     2819..2821)
                     /gene="SATB2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            987..1163
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            1164..1290
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            1291..1414
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            1415..1517
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            1518..1990
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            1991..2203
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            2204..2359
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            2360..2557
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     exon            2558..5730
                     /gene="SATB2"
                     /inference="alignment:Splign:1.39.8"
     STS             3470..3703
                     /gene="SATB2"
                     /standard_name="RH80503"
                     /db_xref="UniSTS:87202"
     variation       4252
                     /gene="SATB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11543297"
     STS             5334..5414
                     /gene="SATB2"
                     /standard_name="Satb2"
                     /db_xref="UniSTS:498445"
     STS             5561..5722
                     /gene="SATB2"
                     /standard_name="D2S2708"
                     /db_xref="UniSTS:21036"
     STS             5561..5690
                     /gene="SATB2"
                     /standard_name="RH91707"
                     /db_xref="UniSTS:91093"
     polyA_signal    5707..5712
                     /gene="SATB2"
     polyA_site      5730
                     /gene="SATB2"
ORIGIN

aaattattattttgaaggcgctagatctggggaccgaaagggggagggggagaaatcggaaaccgaggacaacccaaaaggactcactttgcctgatgactcaacgcaactaataatcatctccctctcagtgtgtctctctctgcggcttgtcagtgagtccggctctggctgctggcagaggcggccgagaggggagaggctggaggtgacagcttgggcggccgccgcgtttcctcccgcgcgcggtcccgggtccctgcgtcttctcggctcttggtgttaccggtcccaccgctctggccgcgcctcctcgcgagctagccgccctgcgaaccagcagccccggctcgccgccgccgccgccgcctccgggttctcagccctttctctccagaacgggtctccttcccgaaggtgtgaaaaggctctttcagcctccttctcttcccccctcctccgccgtcccctcccccgctcgctcgggtgtccctttggaggagtcctttccctctcctcctcctccccctcctccctccccccatcatcatcataacaaccatctccgcaccagaagaagacaccctgacccaggaccttaaacattaggacctggggaagagggaaggggaaggagtaaagaggaagactaggagaacactgcaaagccaagcaccagaaactttccaccctggattctctacttttgctccatggacagagccccagtcagccaagtttcagacagaccgtgagcagtccctgtgcgttttattgcgacctgccggtgggaactttgtctccgagtcggagcagcatggagcggcggagcgagagcccgtgtctgcgggacagccccgaccggcggagcggcagcccggacgtcaaggggcctcccccagtgaaggtggcccggctggagcagaacggcagccccatgggagcccgcgggaggcccaacggcgccgtggccaaggccgtgggaggtttgatgattcctgtcttttgtgtcgtggagcagttggacggctctcttgaatatgacaacagagaagaacacgccgagtttgtcctggtgcggaaagatgtgctttttagccagctggtggagactgcgctcctggccctggggtattctcacagctctgcggcccaggcccaaggaataatcaagctgggaaggtggaaccctctccccctcagttatgtgacagatgcacccgacgcgacagtggccgacatgctacaagatgtctatcatgttgtgacgttgaaaatccaattacaaagttgttcaaagttggaagacttgcctgcggagcagtggaaccatgccacagtccgcaatgccttaaaggaactgctcaaagagatgaaccagagcacattagccaaagaatgccctctctcccagagtatgatttcatccattgtaaatagcacatattatgccaatgtgtcagcaaccaagtgccaggagtttgggagatggtataaaaagtacaagaagattaaagtggaaagagtggaacgagaaaacctttcagactattgtgttctgggccagcgtccaatgcatttaccaaatatgaaccagctggcatccctggggaaaaccaacgaacagtctcctcacagccaaattcaccacagtactccaatccgaaaccaagtgcccgcattacagcccatcatgagccctggtcttctttctccccagcttagtccacaacttgtaaggcaacaaatagccatggcccatctgataaaccaacagattgccgttagccggctcctggctcaccagcatcctcaagccatcaaccagcagttcctgaaccatccacccatccccagagcagttaagccagagccaaccaactcttccgtggaagtctctccagatatctaccagcaagtcagagatgagctgaagagggccagtgtgtcccaagctgtctttgcaagagtggcattcaaccgcacacagggattgttgtctgagattctgcgtaaggaagaagaccctcggacagcctctcagtctcttctagtaaacctgagggccatgcagaatttcctcaatctgccagaagtggagcgagatcgcatctaccaggatgagagggagcggagcatgaatcccaatgtgagcatggtctcctcggcctccagcagtcccagctcctcccgaacccctcaggccaaaacctcgacaccgacaacagacctccctattaaggtggacggcgccaacatcaacatcacagctgccatttatgacgagatccaacaggagatgaaaagggccaaggtgtctcaagccctgtttgccaaagtggctgcaaataaaagtcagggctggctgtgtgaactgctccgctggaaggagaacccaagcccagaaaaccgcaccctctgggaaaacctctgtaccatccgtcgcttcctgaaccttccccagcatgagagggatgtcatctatgaggaggagtcaaggcatcaccacagcgaacgcatgcaacacgtggtccagcttccccctgagccggtgcaggtacttcatagacagcagtctcagccagccaaggagagttcccctcccagagaagaagcgcctcccccacctcctccgactgaagacagttgtgccaaaaagccccggtctcgcacaaagatctccttagaagccctggggatcctccaaagctttattcatgatgtaggcctgtacccagaccaggaagccatccacactctttcggctcagctggatctccccaaacacaccatcatcaagttcttccagaaccagcggtaccacgtgaagcaccacgggaagctgaaagagcacctgggctccgcggtggacgtggctgaatataaggacgaggagctgctgaccgagtcagaggagaacgacagcgaggaaggctccgaggagatgtacaaagtggaggctgaggaggaaaatgctgacaaaagcaaggcagcacctgccgaaattgaccagagataatgtgaacttctactaggcaaagcaatacatcggtccaaggattttctgctttcatttctttaaaagttttttgttagtttgttttttgtttttgtttttgggtttttttggctttatttttgtctttttatgtctgttttgtttttcttacccttttggacatttctttgttgcacaggatacacctatagactgaataagttcagtatttccgaatcagacatcgccttggcaaagacactaaagcgttacactttatcccgtctctatgactggatcatagtcattataatcacaggagactctgccttcattatccttgcacttaacggaagttacatcaggcaagtaccaggatgaaaagaactatgaaataaatgaaggaagctacaagtgtgtgtgtatatgtatatgtatatatctctatatttacatatatatattaaaattgcatgggacagagactttgcaatccgaaagaatagactgtgaaatgagttcttaaagaaaagacttgtttatgtattaaaaaaaccacttcacagtgagtcgctttggctttttgataaactgcggcctgctctcagggtggggtgactatttttgaattcctatttattttttgtgtttgtccctgattttttttttttaattctatggcttcctatctggcagcttaatgggtaatttttgaggtatgtatttaacaaaataaacgacactgccgaaaaaaaaaaaagtgaagtgaaaacaatcagggcacattaaaatgatacaagtcaaataaatcttaaagacacaatgcacacttaaaatgactcaataaaatgacttgctacgttccgttattcaatttgtcattactgtagtgaacagatgcatttctgtggaattccaaataagtaaaactgaaattcagtgcagagaaaactttgtccactagtgcaagtcttgatcaaatgacattttgacattggacatatggaattcatagtatgagccacattttgttgtgaaatttatttacctgcttgtggcttcaaatctgaaaattaataagcctgctcgtttaaaagttgtttgttgttgctgtttttttgtctttttgttttttactagaaaatagttcagtgtaatattaagttagaaaagaagttgctgcccagttaaaggggctccctctcaaataaatctccatccttccctctcccaaaagacatttctgatttctgcttcactttgggcttcctcttcttcgtacacattccatctacctaatcaaacattttcagtccctgatctctcctgtcccttttcctgggatgacagccctaacaagaactgtttttgaatcgttgtgcagctccaggcaatagagtatgtgaagcgatttcagtagaatcacttactcatcctaaaagaaaacattatcccagttacctacatcgcaattaccttatgtaaagcagaactaatgctgactggatgtttaatgggatgagcattaaagctgcaatctactatagtactccagatctctttcggcttcctatgagaaacaccagaagcattactttccacttctacttacagtaattgcaagaggagacctcacattcaggactggcctagtgaacgtaatccatgctttaaactggccattaaacagtcccacatggttggattttttttttttttttgagttgtgctttcacaaaaccttgtcaaagacctcatgcaatatcactttgaaagttattttctgtttactacacaaacattgtaatataactgttaatactatttatatatttgaaaggtataaaaggtaggagttaaaaaaaaaacctctatgtgtagatattaactcagaacttacaatatacagggagaagacatgttgcaatacaagctaattctagctgctcagtaacctctggagtttttaaagggacattttcctgtactttttcaaataatgatgtttaaaaattatcttgacataagcgtcatatacctttgcaaaaggatggttgtttgcagttagccctggccccatccttcctatttctgtagtatgctgcagctttaatcagaaagtccatggttgctgcttcctgatctccgagttactctttccaaattgtcttcttacactgttgctgaaggtcactctgtacacgtaatggaaactgattttgccaagctcttacaaggtggttcatctatcgatggcatccgcatttggtatcttttacacttcaaccaaaaatttattaggtatttttcaatgctaagtcttgccttttattttttaatttcactgccaagtttgcagtggttctaagtgaatctgtgggcattttagcctgtggtcttgccagatctttgcgaattacaatgcatatatgtctatttattcaatatctgtcatataatatctatttggaagaagaaactttctcttgtagtgcctcttgacaaagcacaatttcccgcctttttttttttttgtgaaatgaaaaaaacaaattgtgttttattgcggtatcaacaatgtgaataaggattaacatattgtaaatgttcttttttccatgtaaatcaactatctttgttatcactaagtgataattaatttttaacttatgtgcattgttaggctgttagaattttttggttgttaaaataaacgcattcaataaatatga

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