2025-05-09 20:02:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_133267 1212 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens GS homeobox 2 (GSX2), mRNA. ACCESSION NM_133267 VERSION NM_133267.2 GI:193211415 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 1212) AUTHORS Mendez-Gomez,H.R. and Vicario-Abejon,C. TITLE The homeobox gene Gsx2 regulates the self-renewal and differentiation of neural stem cells and the cell fate of postnatal progenitors JOURNAL PLoS ONE 7 (1), E29799 (2012) PUBMED 22242181 REMARK GeneRIF: Gsx2 negatively regulates neurogenesis from postnatal progenitor cells. REFERENCE 2 (bases 1 to 1212) AUTHORS Shibata,M., Nakao,H., Kiyonari,H., Abe,T. and Aizawa,S. TITLE MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors JOURNAL J. Neurosci. 31 (9), 3407-3422 (2011) PUBMED 21368052 REMARK GeneRIF: Transgenic mice lacking microRNAs miR-9-2 and miR-9-3 exhibit multiple defects of telencephalic structures which may be brought about by dysregulation of Foxg1, Nr2e1, Gsh2, and Meis2 expression. REFERENCE 3 (bases 1 to 1212) 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 4 (bases 1 to 1212) 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 5 (bases 1 to 1212) 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 6 (bases 1 to 1212) 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 EU596451.1, BC075090.2 and AI360912.1. On Jun 28, 2008 this sequence version replaced gi:18959211. ##Evidence-Data-START## Transcript exon combination :: AB028838.1, BC075090.2 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-242 EU596451.1 1-242 243-1205 BC075090.2 1-963 1206-1212 AI360912.1 471-477 FEATURES Location/Qualifiers source 1..1212 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4q12" gene 1..1212 /gene="GSX2" /gene_synonym="GSH2" /note="GS homeobox 2" /db_xref="GeneID:170825" /db_xref="HGNC:24959" /db_xref="HPRD:13612" exon 1..838 /gene="GSX2" /gene_synonym="GSH2" /inference="alignment:Splign:1.39.8" variation 47 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:368553397" STS 195..1212 /gene="GSX2" /gene_synonym="GSH2" /db_xref="UniSTS:480803" misc_feature 208..210 /gene="GSX2" /gene_synonym="GSH2" /note="upstream in-frame stop codon" variation 221 /gene="GSX2" /gene_synonym="GSH2" /replace="g" /replace="t" /db_xref="dbSNP:370144954" variation 225 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:375280653" variation 228 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:367974428" STS 243..1205 /gene="GSX2" /gene_synonym="GSH2" /db_xref="UniSTS:482364" CDS 265..1179 /gene="GSX2" /gene_synonym="GSH2" /note="homeobox protein GSH-2" /codon_start=1 /product="GS homeobox 2" /protein_id="NP_573574.1" /db_xref="GI:18959212" /db_xref="CCDS:CCDS3494.1" /db_xref="GeneID:170825" /db_xref="HGNC:24959" /db_xref="HPRD:13612" /translation="
MSRSFYVDSLIIKDTSRPAPSLPEPHPGPDFFIPLGMPPPLVMSVSGPGCPSRKSGAFCVCPLCVTSHLHSSRGSVGAGSGGAGAGVTGAGGSGVAGAAGALPLLKSQFSSAPGDAQFCPRVNHAHHHHHPPQHHHHHHQPQQPGSAAAAAAAAAAAAAAAALGHPQHHAPVCTATTYNVADPRRFHCLTMGGSDASQVPNGKRMRTAFTSTQLLELEREFSSNMYLSRLRRIEIATYLNLSEKQVKIWFQNRRVKHKKEGKGTQRNSHAGCKCVGSQVHYARSEDEDSLSPASANDDKEISPL
" misc_feature 871..1047 /gene="GSX2" /gene_synonym="GSH2" /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(871..885,889..891,940..942,958..960,997..999, 1003..1008,1015..1020,1024..1032,1036..1041) /gene="GSX2" /gene_synonym="GSH2" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(877..879,886..888,1006..1008,1015..1020,1027..1029) /gene="GSX2" /gene_synonym="GSH2" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 272 /gene="GSX2" /gene_synonym="GSH2" /replace="g" /replace="t" /db_xref="dbSNP:377377329" variation 273 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="c" /db_xref="dbSNP:140713069" variation 285 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="c" /db_xref="dbSNP:144560606" variation 298 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:145597698" variation 310 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="t" /db_xref="dbSNP:201536623" variation 324 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:148460532" variation 397 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:371417798" variation 403 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:200996880" variation 408 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:370613209" variation 420 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:3194383" variation 428 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:150979273" variation 432 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:140790882" variation 446 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:371317920" variation 482 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:375038462" variation 583 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:13144341" variation 672 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:1132998" variation 726 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:371991245" exon 839..1212 /gene="GSX2" /gene_synonym="GSH2" /inference="alignment:Splign:1.39.8" variation 885 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:368607199" variation 888 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:61737615" variation 947 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:374243147" variation 969 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="c" /db_xref="dbSNP:201527645" variation 1008 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="c" /db_xref="dbSNP:181479968" variation 1043 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:200779011" variation 1062 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:144670003" variation 1107 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="t" /db_xref="dbSNP:146677175" variation 1108 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:140212063" variation 1147 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="g" /db_xref="dbSNP:145163904" variation 1152 /gene="GSX2" /gene_synonym="GSH2" /replace="c" /replace="g" /db_xref="dbSNP:187314393" variation 1206 /gene="GSX2" /gene_synonym="GSH2" /replace="a" /replace="c" /db_xref="dbSNP:141885097" ORIGIN
gaggagcctgagccgagcggtactccgcagcatcacgtgccagggtggggggctataaaatacccgagccggggcgccgggcgggggacgtgaggaccagccctctccggggacccctttgttcccagcccagacgccaacacctctgcgtccccaagggcttgactgcccgtgtctgcgcggctcccagggcagagcttagaacactagaggagaggggtcgccgcgaactgccggggcttccagccacccacccctctcgacatgtcgcgctccttctatgtcgactcgctcatcatcaaggacacctcacggcctgcgccctcgctgcctgaaccgcaccccgggccggatttcttcatcccgcttggcatgccgcccccattggtgatgtccgtgtccggccccggctgcccgtcccgcaagagcggcgcgttctgcgtgtgccctctctgcgtcacttcgcacctgcactcctctcgggggtctgtgggcgccggcagcgggggcgcaggggccggggttaccggggccggaggcagtggggtggcaggggccgcaggggcactgcctctgcttaagagccagttctcttcggctcctggggacgcgcagttttgcccgcgggtgaaccatgcgcatcatcaccaccacccgccgcagcaccaccatcaccatcatcagccccagcagcctggctcggccgcggcggcggcagcagcagcagcggcggcggcggccgcggcggccttggggcacccgcagcaccacgcacctgtctgcaccgccaccacctacaacgtggcggacccgcggagattccactgcctcaccatgggaggctctgacgccagccaggtacccaatggcaagaggatgaggacggcgttcactagcacgcaactcctggagctggagagagaattctcttccaacatgtacctgtctcgactccggaggattgaaatcgccacttacctgaacctgtcggagaagcaggtgaaaatctggtttcagaaccgccgagtgaagcacaagaaggaggggaagggcacgcagaggaacagtcacgcgggctgcaagtgcgtcgggagccaggtgcactacgcgcgctccgaggatgaggactccctgtcgccggcctcagccaacgatgacaaggagatttcccccttatgagggagggcctcctccctcacatcccccgctcct
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:170825 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:170825 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:170825 -> Biological process: GO:0002087 [regulation of respiratory gaseous exchange by neurological system process] evidence: IEA GeneID:170825 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:170825 -> Biological process: GO:0021527 [spinal cord association neuron differentiation] evidence: IEA GeneID:170825 -> Biological process: GO:0021575 [hindbrain morphogenesis] evidence: IEA GeneID:170825 -> Biological process: GO:0021798 [forebrain dorsal/ventral pattern formation] evidence: IEA GeneID:170825 -> Biological process: GO:0021889 [olfactory bulb interneuron differentiation] evidence: IEA GeneID:170825 -> Biological process: GO:0048665 [neuron fate specification] evidence: IEA GeneID:170825 -> Biological process: GO:0048853 [forebrain morphogenesis] evidence: IEA GeneID:170825 -> Biological process: GO:0060163 [subpallium neuron fate commitment] evidence: IEA GeneID:170825 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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