2024-03-29 01:04:41, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001168400 1097 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens brain expressed X-linked 2 (BEX2), transcript variant 2, mRNA. ACCESSION NM_001168400 VERSION NM_001168400.1 GI:270309183 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 1097) AUTHORS Zhou,X., Meng,Q., Xu,X., Zhi,T., Shi,Q., Wang,Y. and Yu,R. TITLE Bex2 regulates cell proliferation and apoptosis in malignant glioma cells via the c-Jun NH2-terminal kinase pathway JOURNAL Biochem. Biophys. Res. Commun. 427 (3), 574-580 (2012) PUBMED 23022184 REMARK GeneRIF: Bex2 may be an important player during the development of glioma REFERENCE 2 (bases 1 to 1097) AUTHORS Han,Q.Y., Fan,Y.H., Wang,Y.L., Zhang,S.D. and Han,C.Y. TITLE [BEX2 regulates cell cycle through the interaction with INI1/hSNF5] JOURNAL Yi Chuan 34 (6), 711-718 (2012) PUBMED 22698742 REMARK GeneRIF: Both BEX2 and INI1/hSNF5 mainly localized in cell nucleus. REFERENCE 3 (bases 1 to 1097) AUTHORS Naderi,A., Liu,J. and Francis,G.D. TITLE A feedback loop between BEX2 and ErbB2 mediated by c-Jun signaling in breast cancer JOURNAL Int. J. Cancer 130 (1), 71-82 (2012) PUBMED 21384344 REMARK GeneRIF: BEX2 overexpression was associated with breast cancer. REFERENCE 4 (bases 1 to 1097) AUTHORS Naderi,A., Liu,J. and Hughes-Davies,L. TITLE BEX2 has a functional interplay with c-Jun/JNK and p65/RelA in breast cancer JOURNAL Mol. Cancer 9, 111 (2010) PUBMED 20482821 REMARK GeneRIF: BEX2 has a functional interplay with c-Jun and p65/RelA in breast cancer. Publication Status: Online-Only REFERENCE 5 (bases 1 to 1097) AUTHORS Rohrs,S., Dirks,W.G., Meyer,C., Marschalek,R., Scherr,M., Slany,R., Wallace,A., Drexler,H.G. and Quentmeier,H. TITLE Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia JOURNAL Mol. Cancer 8, 86 (2009) PUBMED 19835597 REMARK GeneRIF: These results suggest that the conspicuous expression of the tumor suppressor genes BEX2, IGSF4 and TIMP3 in MLLmu acute myeloid leukemias cell lines is the consequence of altered epigenetic properties of MLL fusion proteins. Publication Status: Online-Only REFERENCE 6 (bases 1 to 1097) AUTHORS Fischer,C., Drexler,H.G., Reinhardt,J., Zaborski,M. and Quentmeier,H. TITLE Epigenetic regulation of brain expressed X-linked-2, a marker for acute myeloid leukemia with mixed lineage leukemia rearrangements JOURNAL Leukemia 21 (2), 374-377 (2007) PUBMED 17251904 REMARK GeneRIF: Correlation between BEX2 expression and mixed lineage leukemia chromosomal aberrations are shown in the cell lines. REFERENCE 7 (bases 1 to 1097) AUTHORS Foltz,G., Ryu,G.Y., Yoon,J.G., Nelson,T., Fahey,J., Frakes,A., Lee,H., Field,L., Zander,K., Sibenaller,Z., Ryken,T.C., Vibhakar,R., Hood,L. and Madan,A. TITLE Genome-wide analysis of epigenetic silencing identifies BEX1 and BEX2 as candidate tumor suppressor genes in malignant glioma JOURNAL Cancer Res. 66 (13), 6665-6674 (2006) PUBMED 16818640 REMARK GeneRIF: Two novel brain expressed genes, BEX1 and BEX2 are identified; they are silenced in all glioma specimens and exhibit extensive promoter hypermethylation. REFERENCE 8 (bases 1 to 1097) AUTHORS Han,C., Liu,H., Liu,J., Yin,K., Xie,Y., Shen,X., Wang,Y., Yuan,J., Qiang,B., Liu,Y.J. and Peng,X. TITLE Human Bex2 interacts with LMO2 and regulates the transcriptional activity of a novel DNA-binding complex JOURNAL Nucleic Acids Res. 33 (20), 6555-6565 (2005) PUBMED 16314316 REMARK GeneRIF: hBex2 may act as a specific regulator during embryonic development by modulating the transcriptional activity of a novel E-box sequence-binding complex that contains hBex2, LMO2, NSCL2 and LDB1. Publication Status: Online-Only REFERENCE 9 (bases 1 to 1097) AUTHORS Alvarez,E., Zhou,W., Witta,S.E. and Freed,C.R. TITLE Characterization of the Bex gene family in humans, mice, and rats JOURNAL Gene 357 (1), 18-28 (2005) PUBMED 15958283 REFERENCE 10 (bases 1 to 1097) AUTHORS Baldisseri,D.M., Margolis,J.W., Weber,D.J., Koo,J.H. and Margolis,F.L. TITLE Olfactory marker protein (OMP) exhibits a beta-clam fold in solution: implications for target peptide interaction and olfactory signal transduction JOURNAL J. Mol. Biol. 319 (3), 823-837 (2002) PUBMED 12054873 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB498563.1, CB961647.1 and BC015522.1. Summary: This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1. 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 :: CB961647.1 [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 1-20 DB498563.1 1-20 21-686 CB961647.1 30-695 687-1097 BC015522.1 382-792 FEATURES Location/Qualifiers source 1..1097 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq22" gene 1..1097 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /note="brain expressed X-linked 2" /db_xref="GeneID:84707" /db_xref="HGNC:30933" /db_xref="MIM:300691" exon 1..370 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /inference="alignment:Splign:1.39.8" variation 34 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="a" /replace="c" /db_xref="dbSNP:11545116" variation 42 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="g" /db_xref="dbSNP:11545114" misc_feature 281..283 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /note="upstream in-frame stop codon" CDS 359..838 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /note="isoform 2 is encoded by transcript variant 2; protein BEX2; hBex2; brain-expressed X-linked protein 2" /codon_start=1 /product="protein BEX2 isoform 2" /protein_id="NP_001161872.1" /db_xref="GI:270309184" /db_xref="GeneID:84707" /db_xref="HGNC:30933" /db_xref="MIM:300691" /translation="
MQKMVCGAKCCGDAPHVENREEETARIGPGVMESKEERALNNLIVENVNQENDEKDEKEQVANKGEPLALPLNVSEYCVPRGNRRRFRVRQPILQYRWDIMHRLGEPQARMREENMERIGEEVRQLMEKLREKQLSHSLRAVSTDPPHHDHHDEFCLMP
" misc_feature 491..832 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /note="Brain expressed X-linked like family; Region: BEX; pfam04538" /db_xref="CDD:191022" exon 371..446 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /inference="alignment:Splign:1.39.8" variation 389 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="t" /db_xref="dbSNP:3184865" variation 390 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="g" /db_xref="dbSNP:1128200" variation 396 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="a" /replace="g" /db_xref="dbSNP:1045050" variation 405 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="a" /replace="g" /db_xref="dbSNP:1045052" variation 406 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="t" /db_xref="dbSNP:1045055" variation 408 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="g" /replace="t" /db_xref="dbSNP:1045057" variation 431 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="a" /replace="g" /db_xref="dbSNP:1128202" exon 447..1082 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /inference="alignment:Splign:1.39.8" variation 773 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="t" /db_xref="dbSNP:7557" variation 834 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="a" /replace="c" /db_xref="dbSNP:11545113" variation 875 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="g" /db_xref="dbSNP:11545115" STS 923..1048 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /standard_name="WI-15922" /db_xref="UniSTS:62839" variation 964 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" /replace="c" /replace="t" /db_xref="dbSNP:1045299" polyA_signal 1061..1066 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" polyA_site 1082 /gene="BEX2" /gene_synonym="BEX1; DJ79P11.1" ORIGIN
gctcgctcccttctcggcagtggtacctgttcccggtgtccctgaggacgtgcgggccaggtacggccccgaaagtaggaagcggagggggagcaggtaagggacccggagggggtccctggggttggtgtgggggagcagccccggcctgcggatgccccatccccgggcagcagcgcggagacgcagccggtccacgatgcagccccggggccccgccgcgggaccgcgagccttgtgtgagcggaggggtgcccggccccgcgggagccggcgatcctgaggctacgacctttcggaagcacctgcctccgtcaccagcgcaagcttttccaacacccctgctccgcccttcttgatgcagaaaatggtttgcggggccaagtgttgcggcgacgcacctcacgtcgagaatcgggaggaggagactgcaaggataggcccaggagtaatggagtccaaagaggaacgagcgttaaacaatctcatcgtggaaaatgtcaaccaggaaaatgatgaaaaagatgaaaaggagcaagttgctaataaaggggagcccttggccctacctttgaatgttagtgaatactgtgtgcctagaggaaaccgtaggcggttccgcgttaggcagcccatcctgcagtatagatgggacataatgcataggcttggagagccacaggcaaggatgagagaggagaatatggaaaggattggggaggaggtgagacagctgatggaaaagctgagggaaaagcagttgagtcatagtttgcgggcagtcagcactgatccccctcaccatgaccatcacgatgagttttgccttatgccctgaatcctgatggtttccctgaagttaatagggagacccctgcttcctaaacttacacatttgtggtgtacctttgtcgtaaacgttttgatgttacctatttcttgtgggtctcctattaccagcttctaaatgaatgttgtttttgacccagtttgtaagtttctgtcagcaggagagttttacctattgcatggaaagatgctcattatatattgtgaagttaataaaacagttttaaaaagcaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:84707 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:84707 -> Biological process: GO:0007049 [cell cycle] evidence: IEA GeneID:84707 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IDA GeneID:84707 -> Biological process: GO:0051726 [regulation of cell cycle] evidence: IDA GeneID:84707 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:84707 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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