LOCUS       NM_133267               1673 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens GS homeobox 2 (GSX2), mRNA.
ACCESSION   NM_133267
VERSION     NM_133267.3
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 1673)
  AUTHORS   Zhuang,L., Yao,Y., Peng,L., Cui,F., Chen,C., Zhang,Y., Sun,L.,
            Yu,Q. and Lin,K.
  TITLE     Silencing GS Homeobox 2 Alleviates Gemcitabine Resistance in
            Pancreatic Cancer Cells by Activating SHH/GLI1 Signaling Pathway
  JOURNAL   Dig Dis Sci 67 (8), 3773-3782 (2022)
   PUBMED   34623580
  REMARK    GeneRIF: Silencing GS Homeobox 2 Alleviates Gemcitabine Resistance
            in Pancreatic Cancer Cells by Activating SHH/GLI1 Signaling
            Pathway.
REFERENCE   2  (bases 1 to 1673)
  AUTHORS   De Mori,R., Severino,M., Mancardi,M.M., Anello,D., Tardivo,S.,
            Biagini,T., Capra,V., Casella,A., Cereda,C., Copeland,B.R.,
            Gagliardi,S., Gamucci,A., Ginevrino,M., Illi,B., Lorefice,E.,
            Musaev,D., Stanley,V., Micalizzi,A., Gleeson,J.G., Mazza,T.,
            Rossi,A. and Valente,E.M.
  TITLE     Agenesis of the putamen and globus pallidus caused by recessive
            mutations in the homeobox gene GSX2
  JOURNAL   Brain 142 (10), 2965-2978 (2019)
   PUBMED   31412107
REFERENCE   3  (bases 1 to 1673)
  AUTHORS   Zeng,W.J., Yang,Y.L., Liu,Z.Z., Wen,Z.P., Chen,Y.H., Hu,X.L.,
            Cheng,Q., Xiao,J., Zhao,J. and Chen,X.P.
  TITLE     Integrative Analysis of DNA Methylation and Gene Expression
            Identify a Three-Gene Signature for Predicting Prognosis in
            Lower-Grade Gliomas
  JOURNAL   Cell Physiol Biochem 47 (1), 428-439 (2018)
   PUBMED   29794476
  REMARK    GeneRIF: This study identified and validated a three-gene (EMP3,
            GSX2 and EMILIN3) prognostic signature in Lower-Grade Gliomas.
REFERENCE   4  (bases 1 to 1673)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 1673)
  AUTHORS   Faedo,A., Laporta,A., Segnali,A., Galimberti,M., Besusso,D.,
            Cesana,E., Belloli,S., Moresco,R.M., Tropiano,M., Fuca,E., Wild,S.,
            Bosio,A., Vercelli,A.E., Biella,G. and Cattaneo,E.
  TITLE     Differentiation of human telencephalic progenitor cells into MSNs
            by inducible expression of Gsx2 and Ebf1
  JOURNAL   Proc Natl Acad Sci U S A 114 (7), E1234-E1242 (2017)
   PUBMED   28137879
  REMARK    GeneRIF: Data show that GS Homeobox 2 (Gsx2) and Early B-cell
            factor 1 (Ebf1) combined overexpression in human embryonic stem
            (hES) cells achieves high yields of medium spiny neurons (MSNs).
REFERENCE   6  (bases 1 to 1673)
  AUTHORS   Waclaw,R.R., Wang,B., Pei,Z., Ehrman,L.A. and Campbell,K.
  TITLE     Distinct temporal requirements for the homeobox gene Gsx2 in
            specifying striatal and olfactory bulb neuronal fates
  JOURNAL   Neuron 63 (4), 451-465 (2009)
   PUBMED   19709628
  REMARK    GeneRIF: Gsx2 specifies striatal projection neuron and olfactory
            bulb interneuron identity at distinct time points during
            neurogenesis in transgenic mice.
REFERENCE   7  (bases 1 to 1673)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (bases 1 to 1673)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   9  (bases 1 to 1673)
  AUTHORS   Dauwerse,J.G., De Die-Smulders,C.E., Bakker,E., Breuning,M.H. and
            Peters,D.J.
  TITLE     Heterozygous truncating mutation in the human homeobox gene GSH2
            has no discernable phenotypic effect
  JOURNAL   J Med Genet 39 (9), 686-688 (2002)
   PUBMED   12205114
REFERENCE   10 (bases 1 to 1673)
  AUTHORS   Cools,J., Mentens,N., Odero,M.D., Peeters,P., Wlodarska,I.,
            Delforge,M., Hagemeijer,A. and Marynen,P.
  TITLE     Evidence for position effects as a variant ETV6-mediated
            leukemogenic mechanism in myeloid leukemias with a
            t(4;12)(q11-q12;p13) or t(5;12)(q31;p13)
  JOURNAL   Blood 99 (5), 1776-1784 (2002)
   PUBMED   11861295
  REMARK    GeneRIF: ectopically expressed in myeloid leukemic cells with
            t(4;12)(q11-q12;p13), suggesting that expression of GSH2 was
            deregulated by the translocation, indicating a variant leukemogenic
            mechanism for translocations involving the 5' end of ETV6
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC110298.5.
            
            On Nov 23, 2018 this sequence version replaced NM_133267.2.
            
            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 :: AB028838.1, BC075090.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326902.7/ ENSP00000319118.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-756               AC110298.5         493-1248
            757-1673            AC110298.5         1912-2828
FEATURES             Location/Qualifiers
     source          1..1673
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..1673
                     /gene="GSX2"
                     /gene_synonym="DMJDS2; GSH2"
                     /note="GS homeobox 2"
                     /db_xref="GeneID:170825"
                     /db_xref="HGNC:HGNC:24959"
                     /db_xref="MIM:616253"
     exon            1..756
                     /gene="GSX2"
                     /gene_synonym="DMJDS2; GSH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             183..1097
                     /gene="GSX2"
                     /gene_synonym="DMJDS2; GSH2"
                     /note="homeobox protein GSH-2; genetic-screened homeobox
                     2"
                     /codon_start=1
                     /product="GS homeobox 2"
                     /protein_id="NP_573574.2"
                     /db_xref="CCDS:CCDS3494.1"
                     /db_xref="GeneID:170825"
                     /db_xref="HGNC:HGNC:24959"
                     /db_xref="MIM:616253"
                     /translation="MSRSFYVDSLIIKDTSRPAPSLPEPHPGPDFFIPLGMPPPLVMS
                     VSGPGCPSRKSGAFCVCPLCVTSHLHSSRGSVGAGSGGAGAGVTGAGGSGVAGAAGAL
                     PLLKGQFSSAPGDAQFCPRVNHAHHHHHPPQHHHHHHQPQQPGSAAAAAAAAAAAAAA
                     AALGHPQHHAPVCTATTYNVADPRRFHCLTMGGSDASQVPNGKRMRTAFTSTQLLELE
                     REFSSNMYLSRLRRIEIATYLNLSEKQVKIWFQNRRVKHKKEGKGTQRNSHAGCKCVG
                     SQVHYARSEDEDSLSPASANDDKEISPL"
     exon            757..1673
                     /gene="GSX2"
                     /gene_synonym="DMJDS2; GSH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1655..1660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSX2"
                     /gene_synonym="DMJDS2; GSH2"
                     /note="hexamer: AATGAA"
     polyA_site      1673
                     /gene="GSX2"
                     /gene_synonym="DMJDS2; GSH2"
                     /note="major polyA site"
ORIGIN      
        1 gggggacgtg aggaccagcc ctctccgggg acccctttgt tcccagccca gacgccaaca
       61 cctctgcgtc cccaagggct tgactgcccg tgtctgcgcg gctcccaggg cagagcttag
      121 aacactagag gagaggggtc gccgcgaact gccggggctt ccagccaccc acccctctcg
      181 acatgtcgcg ctccttctat gtcgactcgc tcatcatcaa ggacacctca cggcctgcgc
      241 cctcgctgcc tgaaccgcac cccgggccgg atttcttcat cccgcttggc atgccgcccc
      301 cattggtgat gtccgtgtcc ggccccggct gcccgtcccg caagagcggc gcgttctgcg
      361 tgtgccctct ctgcgtcact tcgcacctgc actcctctcg ggggtctgtg ggcgccggca
      421 gcgggggcgc aggggccggg gttaccgggg ccggaggcag tggggtggca ggggccgcag
      481 gggcactgcc tctgcttaag ggccagttct cttcggctcc tggggacgcg cagttttgcc
      541 cgcgggtgaa ccatgcgcat catcaccacc acccgccgca gcaccaccat caccatcatc
      601 agccccagca gcctggctcg gccgcggcgg cggcagcagc agcagcggcg gcggcggccg
      661 cggcggcctt ggggcacccg cagcaccacg cacctgtctg caccgccacc acctacaacg
      721 tggcggaccc gcggagattc cactgcctca ccatgggagg ctctgacgcc agccaggtac
      781 ccaatggcaa gaggatgagg acggcgttca ctagcacgca actcctggag ctggagagag
      841 aattctcttc caacatgtac ctgtctcgac tccggaggat tgaaatcgcc acttacctga
      901 acctgtcgga gaagcaggtg aaaatctggt ttcagaaccg ccgagtgaag cacaagaagg
      961 aggggaaggg cacgcagagg aacagtcacg cgggctgcaa gtgcgtcggg agccaggtgc
     1021 actacgcgcg ctccgaggat gaggactccc tgtcgccggc ctcagccaac gatgacaagg
     1081 agatttcccc cttatgaggg agggcctcct ccctcacatc ccccgctcct ggcagaccag
     1141 gcaacgccaa ggcgtggggc acccaggggc cagaatcctt gctcattgca gtggtcccat
     1201 ctggagaaga aacgaacctg gaagttctgg aatggacaag ccgggacctg acccttcgcg
     1261 tctccttctt gacctgttta tctaggactc caacttgaag ttacagattt ttttaaaaaa
     1321 tgtaaataac ctataattca actcattctt gtcgtataac agaggaaaaa cagggttggt
     1381 ttaagtttaa cactgtatgg ggtttttgaa agcacatgtc agttccccat ccctactctc
     1441 tttcagaact cgataagaac acaggattta ttgattattt tctgttgtcg ttttcaaaca
     1501 aaaacaccca agttgaaaat aatttagaaa attagacctt gtaggtcttg ctttctgaaa
     1561 tttcgcctgg ggagaattta aaatctaagt cgctggaagt ccctttgtat gtgaataggt
     1621 ttatataaaa tttatattta tatttattta aataaatgaa acaaaaacca gaa
//
