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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
//

Annotations:

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

by @meso_cacase at DBCLS
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