GGRNA | NR_033258.1

LOCUS       NR_033258               3026 bp    RNA     linear   PRI 16-JUL-2013
DEFINITION  Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2),
            transcript variant 3, non-coding RNA.
ACCESSION   NR_033258
VERSION     NR_033258.1  GI:284413747
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 3026)
  AUTHORS   Cai,J., Schleidt,S., Pelta-Heller,J., Hutchings,D., Cannarsa,G. and
            Iacovitti,L.
  TITLE     BMP and TGF-beta pathway mediators are critical upstream regulators
            of Wnt signaling during midbrain dopamine differentiation in human
            pluripotent stem cells
  JOURNAL   Dev. Biol. 376 (1), 62-73 (2013)
   PUBMED   23352789
  REMARK    GeneRIF: The up-regulation in SMAD-interacting protein 1 (SIP1)
            results in greater repression of the Wnt antagonist, secreted
            frizzled related protein 1 (Sfrp1) in stem cells.
REFERENCE   2  (bases 1 to 3026)
  AUTHORS   Koopmansch,B., Berx,G., Foidart,J.M., Gilles,C. and Winkler,R.
  TITLE     Interplay between KLF4 and ZEB2/SIP1 in the regulation of
            E-cadherin expression
  JOURNAL   Biochem. Biophys. Res. Commun. 431 (4), 652-657 (2013)
   PUBMED   23376074
  REMARK    GeneRIF: these results suggest that E-cadherin expression in cancer
            cells is controlled by a balance between ZEB2 and KLF4 expression
            levels.
REFERENCE   3  (bases 1 to 3026)
  AUTHORS   McKinsey,G.L., Lindtner,S., Trzcinski,B., Visel,A.,
            Pennacchio,L.A., Huylebroeck,D., Higashi,Y. and Rubenstein,J.L.
  TITLE     Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the
            fate switch between cortical and striatal interneurons
  JOURNAL   Neuron 77 (1), 83-98 (2013)
   PUBMED   23312518
  REMARK    GeneRIF: Zfhx1b zinc finger homeobox gene is required to generate
            cortical interneurons in the medial ganglionic eminence.
REFERENCE   4  (bases 1 to 3026)
  AUTHORS   Usova,E.V., Kopantseva,M.R., Kostina,M.B., Van'kovich,A.N.,
            Egorov,V.I. and Kopantsev,E.P.
  TITLE     Expression of the ZEB2 gene in pancreatic stromal cells in
            pancreatic ductal adenocarcinoma, pancreatitis, and normal state
  JOURNAL   Dokl. Biol. Sci. 448, 61-64 (2013)
   PUBMED   23479023
  REMARK    GeneRIF: Expression of the ZEB2 gene in pancreatic stromal cells in
            pancreatic ductal adenocarcinoma, pancreatitis, and normal state.
REFERENCE   5  (bases 1 to 3026)
  AUTHORS   Meral,C., Malbora,B., Celikel,F., Aydemir,G., Suleymanoglu,S.,
            Zollino,M. and Derbent,M.
  TITLE     A case of Mowat-Wilson syndrome caused by a truncating mutation
            within exon 8 of the ZEB2 gene
  JOURNAL   Turk. J. Pediatr. 54 (5), 523-527 (2012)
   PUBMED   23427518
  REMARK    GeneRIF: The investigation identified a heterozygous complex
            rearrangement in exon 8 of ZEB2, specifically a 48-nucleotide
            deletion and a 44-nucleotide insertion that caused a frameshift.
REFERENCE   6  (bases 1 to 3026)
  AUTHORS   Cacheux,V., Dastot-Le Moal,F., Kaariainen,H., Bondurand,N.,
            Rintala,R., Boissier,B., Wilson,M., Mowat,D. and Goossens,M.
  TITLE     Loss-of-function mutations in SIP1 Smad interacting protein 1
            result in a syndromic Hirschsprung disease
  JOURNAL   Hum. Mol. Genet. 10 (14), 1503-1510 (2001)
   PUBMED   11448942
REFERENCE   7  (bases 1 to 3026)
  AUTHORS   Comijn,J., Berx,G., Vermassen,P., Verschueren,K., van Grunsven,L.,
            Bruyneel,E., Mareel,M., Huylebroeck,D. and van Roy,F.
  TITLE     The two-handed E box binding zinc finger protein SIP1 downregulates
            E-cadherin and induces invasion
  JOURNAL   Mol. Cell 7 (6), 1267-1278 (2001)
   PUBMED   11430829
  REMARK    GeneRIF: Conditional expression of SIP1 in E-cadherin-positive
            cells abrogates E-cadherin-mediated intercellular adhesion and
            induces invasion. SIP1 therefore appears to be a promoter of
            invasion in malignant epithelial tumors.
REFERENCE   8  (bases 1 to 3026)
  AUTHORS   Wakamatsu,N., Yamada,Y., Yamada,K., Ono,T., Nomura,N.,
            Taniguchi,H., Kitoh,H., Mutoh,N., Yamanaka,T., Mushiake,K.,
            Kato,K., Sonta,S. and Nagaya,M.
  TITLE     Mutations in SIP1, encoding Smad interacting protein-1, cause a
            form of Hirschsprung disease
  JOURNAL   Nat. Genet. 27 (4), 369-370 (2001)
   PUBMED   11279515
REFERENCE   9  (bases 1 to 3026)
  AUTHORS   Verschueren,K., Remacle,J.E., Collart,C., Kraft,H., Baker,B.S.,
            Tylzanowski,P., Nelles,L., Wuytens,G., Su,M.T., Bodmer,R.,
            Smith,J.C. and Huylebroeck,D.
  TITLE     SIP1, a novel zinc finger/homeodomain repressor, interacts with
            Smad proteins and binds to 5'-CACCT sequences in candidate target
            genes
  JOURNAL   J. Biol. Chem. 274 (29), 20489-20498 (1999)
   PUBMED   10400677
REFERENCE   10 (bases 1 to 3026)
  AUTHORS   Ueki,N., Oda,T., Kondo,M., Yano,K., Noguchi,T. and Muramatsu,M.
  TITLE     Selection system for genes encoding nuclear-targeted proteins
  JOURNAL   Nat. Biotechnol. 16 (13), 1338-1342 (1998)
   PUBMED   9853615
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP218652.1, BC025696.1,
            BC025730.1 and BU688017.1.
            
            Summary: The protein encoded by this gene is a member of the Zfh1
            family of 2-handed zinc finger/homeodomain proteins. It is located
            in the nucleus and functions as a DNA-binding transcriptional
            repressor that interacts with activated SMADs. Mutations in this
            gene are associated with Hirschsprung disease/Mowat-Wilson
            syndrome. Alternatively spliced transcript variants have been found
            for this gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (3) is missing many exons from the
            3' end and contains an alternate 3' terminal exon compared to
            variant 1. It is represented as non-coding because it has
            transcript support but lacks a large portion of the coding region.
            
            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.
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                BP218652.1         1-62
            63-2221             BC025696.1         4-2162
            2222-3004           BC025730.1         1782-2564
            3005-3026           BU688017.1         1-22                c
FEATURES             Location/Qualifiers
     source          1..3026
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q22.3"
     gene            1..3026
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /note="zinc finger E-box binding homeobox 2"
                     /db_xref="GeneID:9839"
                     /db_xref="HGNC:14881"
                     /db_xref="MIM:605802"
     misc_RNA        1..3026
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /product="zinc finger E-box binding homeobox 2, transcript
                     variant 3"
                     /db_xref="GeneID:9839"
                     /db_xref="HGNC:14881"
                     /db_xref="MIM:605802"
     exon            1..453
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /inference="alignment:Splign:1.39.8"
     variation       35
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146048066"
     exon            454..595
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    523..699
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /inference="COORDINATES: ab initio prediction:ORF Finder"
                     /note="predicted ORF length <200 codons; does not meet
                     quality criteria for protein coding locus with longer
                     protein data"
     exon            596..3008
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /inference="alignment:Splign:1.39.8"
     variation       2829
                     /gene="ZEB2"
                     /gene_synonym="HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1053936"
ORIGIN

atttcatttcttccactaaagcgtttgcggagacttcaaggtataatctatcccagatcctttcccagagagaaacttggcgatcacgttttcacatgatgctcacgctcagggcgcttcaattatccctccccacaaagataggtggcgcgtgtttcagggtctctcgtctctctcctacagaaaagaaaaagaaaaaaatgtcattagaagaggcgtaacacgtcagtccgtccccaggtttgtgtttcctggagtggccgaaagagatcagttctaacctgctctgcaggaataacggtcctgcctcccgacactcttggcgaggtttttgtacagtttgctccgggagctgtttcttcgcttccacctttttctcccccacacttcgcggcttcttcatgctttttcttctcaccatttctggccaaaactacaaacaagacttcgcagatcgagcctgcgtgctgccgaagcagggcgccgagtccatgcgaactgccatctgatccgctcttatcaatgaagcagccgatcatggcggatggcccccggtgcaagaggcgcaaacaagccaatcccaggaggaaaaacgccttggagtcagaaatgagcactcggagcgggagatgccctgctgctgcttgccaccggtgcggcccgtttgtaacttgcaaagtttgttgcttttgcccctgattcgggcagcgggtcctgggatgctcctgcttccctcctgcctcccacggagcccgggaagagggtctgcctccccatcccgccaccttccagcatcagcctctgaaaaatctcacagagacatgcacgttgtagcaaaaatcaaatccggaaactgcttgtttcagagaaagaaatgaagttgtcttttaaagaaaaactgaattaggaggagagaaaagggaaataggagaagaaaggaaaagttaaatttgatttttctccagagtttccactaaagggttggggacagtgtgaaggagaaggggagctttttacaaatgcctttggtctctgaacttcagtggcaaagaacagggatcaagttgaatgttctcagggctttggatcctagaggagaaacaatcagaagagcagaaatggttatccctgtttaaaataagccctcactctttaccacttccttaaaggagtggaggtgctggtagtgatggttagaggcaatgagggacggagaagttgctcccgtttcagagatgcttaaatgaaaaggaaagaaaatgcagtcaaccccttctccaggaggtgcctcctagctctcctccctgagaggtgaagttgggatggggcaacgagagtcatacacacttagacaaggaagtttccttcggatcactgtcagtccagacttggttatctttgcaaagtgtggaaatctttggcaagtagctttcttcgtaaagttgatgagcttctagggagcctgttttgctgactttcaaagcactggggcaggttgtgtggcaggtaccagttctgagggcgctccaaagatatccatctccatccttttttctctgtggagatcttctgcaagttttgtcacgctgcacacacacaaggctgggggctatgtatctaggctgatctatttgttttattttggtctggaaaaactaagccaattggggtagaaacatgctttccttcgtagcagagccagtaggctgctggtgtccatagagtgacagtccaccaggactaagggtgggctgaggattttaaactttacattgtttctctgttaccagatacaaataaattcacgtcttccaccatttgttttcaaatagggtaaaaccaagattaaagttccctgctcaactgctatgtcataggtttcagtgtttcccttccttcttaatttgcttaaagaaaattccaagaggttattaaagaccttgatgccatattaagaatatttcctgggaaaaatgtatgtctaccctgaaggtaggaaaggagggcgttgctagcctctagcagtgccgcgtttattctaagatgtgggagattcttttccttgcaacagtttttgtcatctgcattcttccaaggcttttaaggtgcattttcttctgtgtgaaaggaaattctttgtccttttcctctcagcaccgtggcttcccaaggtagacactattttgtgcctgtcacagagagagggagtgcaggtttgcaatgctcacagacaattgattgtctgccctaatgtgtttcatttacatgtttataacgtcaatggtgctggggtgtccactgtaccattcattcccgcattcccacaagggggcaattgtctgaatggccaagtcagacacctttttgattgctctttggttgtcttttcagagcaaagagataaaggaggaaaatctgtgatgcagaaacactagttgaaaatatacagaattaaatgtcaccacaaaagcagatgttaacataagcccaaatatgctttttagccaagatgtgaaggttgaaaaaaataattcagagcagagggaaggatgatttaaaccaataaatatagccctattccccctctttacttcttttctgtctttagcaatcagaagatgaaatgtaattttccttttcatttttaagccttgaaacatccaggcacctcctcattatttgtatgtttgctgtgatttgtgaattttgtatatatttacatagctctgtttatgccaacagcatcagcttaccacttggaaaatctattgaatgactatttgggctgtggggagggtaaacttttaaaaagtaagatccaagtatttcttcatcaagcagtttttaaaaggaaaacgataataatcagtaggctccatggaagcctttgccttaatagctatgtgccaaatacttttatcttgtgtgacagtcatgtcagagtgaaatctctcaggaaaagtgtaactagtagttacaaagtaaataaaggatttcattttaaggtgaaaaaaaaaaaaaaaaaa

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