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2025-05-12 01:20:01, 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 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
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