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2024-03-29 08:31:58, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001424               5186 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.
ACCESSION   NM_001424
VERSION     NM_001424.4  GI:197304738
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 5186)
  AUTHORS   Luykx,J.J., Bakker,S.C., Lentjes,E., Neeleman,M., Strengman,E.,
            Mentink,L., Deyoung,J., de Jong,S., Sul,J.H., Eskin,E., van
            Eijk,K., van Setten,J., Buizer-Voskamp,J.E., Cantor,R.M., Lu,A.,
            van Amerongen,M., van Dongen,E.P., Keijzers,P., Kappen,T.,
            Borgdorff,P., Bruins,P., Derks,E.M., Kahn,R.S. and Ophoff,R.A.
  TITLE     Genome-wide association study of monoamine metabolite levels in
            human cerebrospinal fluid
  JOURNAL   Mol. Psychiatry (2013) In press
   PUBMED   23319000
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 5186)
  AUTHORS   Fu,M., Rao,R., Sudhakar,D., Hogue,C.P., Rutta,Z., Morales,S.,
            Gordon,L.K., Braun,J., Goodglick,L. and Wadehra,M.
  TITLE     Epithelial membrane protein-2 promotes endometrial tumor formation
            through activation of FAK and Src
  JOURNAL   PLoS ONE 6 (5), E19945 (2011)
   PUBMED   21637765
  REMARK    GeneRIF: Manipulation of EMP2 levels in endometrial cancer cells
            regulates the phosphorylation of FAK and Src, and promotes their
            distribution into lipid raft domains.
REFERENCE   3  (bases 1 to 5186)
  AUTHORS   Mick,E., Todorov,A., Smalley,S., Hu,X., Loo,S., Todd,R.D.,
            Biederman,J., Byrne,D., Dechairo,B., Guiney,A., McCracken,J.,
            McGough,J., Nelson,S.F., Reiersen,A.M., Wilens,T.E., Wozniak,J.,
            Neale,B.M. and Faraone,S.V.
  TITLE     Family-based genome-wide association scan of
            attention-deficit/hyperactivity disorder
  JOURNAL   J Am Acad Child Adolesc Psychiatry 49 (9), 898-905 (2010)
   PUBMED   20732626
REFERENCE   4  (bases 1 to 5186)
  AUTHORS   Fu,M., Maresh,E.L., Soslow,R.A., Alavi,M., Mah,V., Zhou,Q.,
            Iasonos,A., Goodglick,L., Gordon,L.K., Braun,J. and Wadehra,M.
  TITLE     Epithelial membrane protein-2 is a novel therapeutic target in
            ovarian cancer
  JOURNAL   Clin. Cancer Res. 16 (15), 3954-3963 (2010)
   PUBMED   20670949
  REMARK    GeneRIF: EMP2 is expressed in the majority of ovarian tumors and
            may be a feasible target in vivo.
REFERENCE   5  (bases 1 to 5186)
  AUTHORS   Shimazaki,K., Lepin,E.J., Wei,B., Nagy,A.K., Coulam,C.P.,
            Mareninov,S., Fu,M., Wu,A.M., Marks,J.D., Braun,J., Gordon,L.K. and
            Wadehra,M.
  TITLE     Diabodies targeting epithelial membrane protein 2 reduce
            tumorigenicity of human endometrial cancer cell lines
  JOURNAL   Clin. Cancer Res. 14 (22), 7367-7377 (2008)
   PUBMED   19010852
  REMARK    GeneRIF: EMP2 may be a potential pharmacologic target for human
            endometrial cancer.
REFERENCE   6  (bases 1 to 5186)
  AUTHORS   Wadehra,M., Sulur,G.G., Braun,J., Gordon,L.K. and Goodglick,L.
  TITLE     Epithelial membrane protein-2 is expressed in discrete anatomical
            regions of the eye
  JOURNAL   Exp. Mol. Pathol. 74 (2), 106-112 (2003)
   PUBMED   12710941
  REMARK    GeneRIF: This protein is expressed in discrete anatomical regions
            of the eye.
REFERENCE   7  (bases 1 to 5186)
  AUTHORS   Street,V.A., Goldy,J.D., Golden,A.S., Tempel,B.L., Bird,T.D. and
            Chance,P.F.
  TITLE     Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p
            identifies a novel locus for demyelinating neuropathies
  JOURNAL   Am. J. Hum. Genet. 70 (1), 244-250 (2002)
   PUBMED   11713717
  REMARK    GeneRIF: evaluation as candidate gene for Charcot-Marie-Tooth
            disease type 1C on chromosome 16p
REFERENCE   8  (bases 1 to 5186)
  AUTHORS   Liehr,T., Kuhlenbaumer,G., Wulf,P., Taylor,V., Suter,U., Van
            Broeckhoven,C., Lupski,J.R., Claussen,U. and Rautenstrauss,B.
  TITLE     Regional localization of the human epithelial membrane protein
            genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and
            19q13.3
  JOURNAL   Genomics 58 (1), 106-108 (1999)
   PUBMED   10331954
REFERENCE   9  (bases 1 to 5186)
  AUTHORS   Ben-Porath,I. and Benvenisty,N.
  TITLE     Characterization of a tumor-associated gene, a member of a novel
            family of genes encoding membrane glycoproteins
  JOURNAL   Gene 183 (1-2), 69-75 (1996)
   PUBMED   8996089
REFERENCE   10 (bases 1 to 5186)
  AUTHORS   Taylor,V. and Suter,U.
  TITLE     Epithelial membrane protein-2 and epithelial membrane protein-3:
            two novel members of the peripheral myelin protein 22 gene family
  JOURNAL   Gene 175 (1-2), 115-120 (1996)
   PUBMED   8917086
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF981157.1, BC009687.1, DA752772.1, AC027277.5 and AA854747.1.
            On Aug 27, 2008 this sequence version replaced gi:42716292.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no quality transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: BG289390.1, BF981157.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-628               BF981157.1         17-644
            629-844             BC009687.1         554-769
            845-1413            DA752772.1         3-571
            1414-4882           AC027277.5         62987-66455
            4883-5186           AA854747.1         1-304               c
FEATURES             Location/Qualifiers
     source          1..5186
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     gene            1..5186
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="epithelial membrane protein 2"
                     /db_xref="GeneID:2013"
                     /db_xref="HGNC:3334"
                     /db_xref="HPRD:11893"
                     /db_xref="MIM:602334"
     exon            1..134
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:1.39.8"
     exon            135..272
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:1.39.8"
     CDS             195..698
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="EMP-2"
                     /codon_start=1
                     /product="epithelial membrane protein 2 precursor"
                     /protein_id="NP_001415.1"
                     /db_xref="GI:4503561"
                     /db_xref="CCDS:CCDS10541.1"
                     /db_xref="GeneID:2013"
                     /db_xref="HGNC:3334"
                     /db_xref="HPRD:11893"
                     /db_xref="MIM:602334"
                     /translation="
MLVLLAFIIAFHITSAALLFIATVDNAWWVGDEFFADVWRICTNNTNCTVINDSFQEYSTLQAVQATMILSTILCCIAFFIFVLQLFRLKQGERFVLTSIIQLMSCLCVMIAASIYTDRREDIHDKNAKFYPVTREGSYGYSYILAWVAFACTFISGMMYLILRKRK
"
     misc_feature    195..674
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; pfam00822"
                     /db_xref="CDD:109862"
     misc_feature    195..257
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P54851.1);
                     transmembrane region"
     sig_peptide     195..242
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    393..455
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P54851.1);
                     transmembrane region"
     misc_feature    477..539
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P54851.1);
                     transmembrane region"
     misc_feature    621..683
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P54851.1);
                     transmembrane region"
     exon            273..363
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:1.39.8"
     exon            364..510
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:1.39.8"
     STS             393..504
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="EMP2"
                     /db_xref="UniSTS:519362"
     exon            511..5181
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:1.39.8"
     STS             531..705
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="RH71236"
                     /db_xref="UniSTS:48992"
     STS             542..667
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="RH70402"
                     /db_xref="UniSTS:19550"
     STS             2040..2203
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="G35510"
                     /db_xref="UniSTS:44150"
     variation       2046
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1142436"
     STS             2081..2528
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     STS             2148..2375
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="GDB:434012"
                     /db_xref="UniSTS:157204"
     variation       2215
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1138755"
     STS             2220..2378
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="L17705"
                     /db_xref="UniSTS:66091"
     STS             2353..3933
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="GDB:631802"
                     /db_xref="UniSTS:158429"
     variation       2881
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3790124"
     variation       2882
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3790125"
     variation       2911
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3790126"
     variation       2994..2995
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace=""
                     /replace="tg"
                     /db_xref="dbSNP:3838366"
     variation       3018
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3790127"
     STS             3727..3796
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     STS             3747..3865
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="D11S2560"
                     /db_xref="UniSTS:37928"
     STS             3758..3846
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       4128
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3087620"
     STS             4134..4268
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="RH65260"
                     /db_xref="UniSTS:86217"
     STS             4153..4268
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="D16S3221"
                     /db_xref="UniSTS:42251"
     variation       4156
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12996"
     variation       4195
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10935"
     polyA_signal    4501..4506
                     /gene="EMP2"
                     /gene_synonym="XMP"
     polyA_site      4529
                     /gene="EMP2"
                     /gene_synonym="XMP"
     variation       4565
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6944"
     STS             4790..5024
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="RH81007"
                     /db_xref="UniSTS:91937"
     STS             4790..4902
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /standard_name="RH66599"
                     /db_xref="UniSTS:3347"
     polyA_signal    5008..5013
                     /gene="EMP2"
                     /gene_synonym="XMP"
     polyA_site      5026
                     /gene="EMP2"
                     /gene_synonym="XMP"
ORIGIN      
gaggggccccgccgcctagagggtggagggagggcgcgcagtcccagcccagagcttcaaaacagcccggcggcctcgcctcgcacccccagccagtccgtcgatccagctgccagcgcagccgccagcgccggcacatcccgctctgggctttaaacgtgacccctcgcctcgactcgccctgccctgtgaaaatgttggtgcttcttgctttcatcatcgccttccacatcacctctgcagccttgctgttcattgccaccgtcgacaatgcctggtgggtaggagatgagttttttgcagatgtctggagaatatgtaccaacaacacgaattgcacagtcatcaatgacagctttcaagagtactccacgctgcaggcggtccaggccaccatgatcctctccaccattctctgctgcatcgccttcttcatcttcgtgctccagctcttccgcctgaagcagggagagaggtttgtcctaacctccatcatccagctaatgtcatgtctgtgtgtcatgattgcggcctccatttatacagacaggcgtgaagacattcacgacaaaaacgcgaaattctatcccgtgaccagagaaggcagctacggctactcctacatcctggcgtgggtggccttcgcctgcaccttcatcagcggcatgatgtacctgatactgaggaagcgcaaatagagttccggagctgggttgcttctgctgcagtacagaatccacattcagataaccattttgtatataatcattattttttgaggtttttctagcaaacgtattgtttcctttaaaagccaaaaaaaaaaaaaaaaaaaaaaaaaaaagaaaaaagaaaaaaaaaatccaaaagagagaagagtttttgcattcttgagatcagagaatagactatgaaggctggtattcagaactgctgcccactcaaaagtctcaacaagacacaagcaaaaatccagcaatgctcaaatccaaaagcactcggcaggacatttcttaaccatggggctgtgatgggaggagaggagaggctgggaaagccgggtctctggggacgtgcttcctatgggtttcagctggcccaagcccctcccgaatctctctgctagtggtgggtggaagagggtgaggtggggtataggagaagaatgacagcttcctgagaggtttcacccaagttccaagtgagaagcaggtgtagtccctggcattctgtctgtatccaaaccagagcccagccatccctccggtatcggggtgggtcagaaaaagtctcacctcaatttgccgacagtgtcacctgcttgccttaggaatggtcatccttaacctgcgtgccagatttagactcgtctttaggcaaaacctacagcgccccccccctcaccccagacctacagaatcagagtcttcaagggatggggccagggaatctgcatttctaacgcgctccctgggcaacgcttcagatgcgttgaagttggggaccacggtgcctgggccaggtcagcagagctgcctcgtaaatgctggggtatcgtcatgtggagatggggaggtgaatgcaacccccacagcaggccaaaaccttggcctccatcgccacagctgtctacatctagggccccaaaactccattcctgagccatgtgaactcatagacaccttcagggtgtggggtacagcctccttcccatcttatcccagaaggcctctcccttcttgtccagcccttcatgctacacctggctggcctctcacccctatttctagagcctcagaggacccatccaccattcattcattcattcattcattcattcattcattcattcatcaacataaatcataacttgcatgcatgtgccaggcacaggggataccctctagagacaatctcctcctagggctcatggcctagtggaggagacagattaaaacttaattagaaaaactggctgggtacagtggctcatgcttgtaatcccagcactttgggaggctgaggcgggtggatcacctgaggtcaggagttcaagaccagcctggccaaaatggtaaaacctgtctctactaaaaatacaaaaatgagctgggcgtggtggtgcatgcctgtaatcccagctatcaggtggctgaggcaggagaatcacttgaaatgggaggtggaggttgcagtgagccgagaccgtgccactgcactccagcctgggtgacagagtgagactccatctcaaaaaaagaaaaaaaagaaaagaaactaattacacactgtgatggaggctgcaaagaacaccactaagaattcaaaatcagctgggtgcggtggctcacacctgtaatcccagcactttgggaggctgaggcaggtggatcacaaggtcaggagttcaagaccagcctggccaacatggtgaaaccccgtctctaccgaaaatacaacaaaattagcccggtgtggtggcaggtgcctgtaatcccagctacttaggaggctgaggcaggagaatcgcttgaaactgggaggcggaggtcgcagtgagccgagattcaccactgcactccagcccaggcgacagtctgagactccgtctcaaaaataaaacgattcaaaatcgaggcctgtggcatggtagggaggctgctttacgcgtgcctattattaaatgctcctggaggcatttaggtatttagatcagtctaaatatagctccattcagttcgtgcagatgacagttattgggcagtacctgtctgtgtaacacccagaaaacatgtctgtggaggggcccatggtcccgacagtaaatgcggtgagagggtcccatagagctggagttttcaagctttaggggttcccgtgctgcttgggacaggctgattcagagggtctgggtgaatgatttccaggtgattttaagactgtgctgagaaatagggcttttggggccttgtccttcaggatcaaagcatgatgctgtgtggcaatgcagaccacccaggaaccatcccaggagataagctctttgcacctcattgtctttttctgcttatgttggagcaggatgctgggggctgtcctgggatggggtgtgggacctcgtgctatttaaatacttttgcacttgaccttctgctgagtggagtggtggtttgccatcagctcagttccagtggagctgaagagacatctggtttgagtagttttagggccaccatggatatctcttcaatgcaggattggctctttccatctgctctttcattcatttgtttttgacagatagtattaaatgtttaccatgttccaggcactgtgtgaggctctgaaaatacaggggtgagcaaatccagatatcctccctgccatcatgaagtttggagtctatgagataggaccccctccctatggagaagccaccaatgcagtacagggtgacctggggccagagacaggacaaatgtcacctcctgcctccatgagatactctcactagtcatattgtgggcaagaatgtggcttacacccctagggttaacaggatgctacccaagctcatggaggaagttgaatcttaagttcccttgaaactttctaccttggtggcttttctataattttcttttttctttttcttttttttttttttttttgagactgagttttgctcttgttgcccaggctggagtgcagtggcaccatcttggctcaccgcaacctctgcctcctgggttcaagtgattctcctgcctcagcctcccgagtagctgggattacaggcatgtcccaccatgcccagctaatttttgtatttttagtagagatggggtttctccatgttggtcaggctggtttcgaactcccaacctcaggtgatccgcccacctcagccttccaaagtgctgggattacaggcatgagccactgcgtctggccttctataattttctggtagtcacgatggaaacaaacaaaacaccttagaaccagagatcgaccccctcaagcaatacatcaattcccttcacaagaaacgtcggggctacatgagtatctgtgttgaatgcggtctgaaatgatcctatggattttcccggctggttgccactgctgtacaacattcagtgcccacatccacctgtgccattaagcttttttgagacatgagagatgcctcttccctgctgtatgacatgcatttgggaagttggaaagaaatgacaaaatcagggagaaaacatccaagcttcttacctgtagatagaatcagccctcacttggtgcttattaccagttattcaagaacaataacaacaacaaaattagtagacatccaagaagcacatattaggaccaaagatagcatcaactgtatttgaaggaactgtagtttgcgcattttatgacatttttataaagtactgtaattctttcattgaggggctatgtgatggagacagactaactcattttgttatttgcattaaaattattttgggtctctgttcaaatgagtttggagaatgcttgacttgttggtctgtgtgaatgtgtatatatatatacctgaatacaggaacatcggagacctattcactcccacacactctgctatagtttgcgtgcttttgtggacacccctcatgaacaggctggcgctctaggacgctctgtgttcactgatgatgaagaaacctagaactccaagcctgtttgtaaacacactaaacacagtggcctagatagaaactgtatcgtagtttaaaatctgcctcgcgggatgttactaaactcgctaatagtttaaaggttacttacaatagagcaagttggacaattttgtggtgttggggaaatgttagggcaaggcctagaggttcattttgaatcttggtttgtgactttagggtagttagaaactttctacttaatgtacctttaaaatagtccattttctatgttttgtataatctgaaactgtacatggaaaataaagtttaaaaccagattgcccagagcaagactctaatgttcccaacggtgatgacatctagggcagaatgctgccattttgaggggcagggggtcagctgatttctcatcaagataataatgtatggtttttacactaagcaactgataaatggacaatttatcactggaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2013 -> Molecular function: GO:0005178 [integrin binding] evidence: IPI
            GeneID:2013 -> Biological process: GO:0001954 [positive regulation of cell-matrix adhesion] evidence: IDA
            GeneID:2013 -> Biological process: GO:0008283 [cell proliferation] evidence: TAS
            GeneID:2013 -> Biological process: GO:2001046 [positive regulation of integrin-mediated signaling pathway] evidence: IDA
            GeneID:2013 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:2013 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA

by @meso_cacase at DBCLS
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