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2025-05-12 01:29:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002354 1731 bp mRNA linear PRI 01-JUL-2013
DEFINITION Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.
ACCESSION NM_002354
VERSION NM_002354.2 GI:218505669
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 1731)
AUTHORS Wu,C.J., Mannan,P., Lu,M. and Udey,M.C.
TITLE Epithelial cell adhesion molecule (EpCAM) regulates claudin
dynamics and tight junctions
JOURNAL J. Biol. Chem. 288 (17), 12253-12268 (2013)
PUBMED 23486470
REMARK GeneRIF: EpCAM modulates adhesion and TJ function by regulating
intracellular localization and degradation of selected claudins.
REFERENCE 2 (bases 1 to 1731)
AUTHORS Tomita,N., Yamano,T., Matsubara,N. and Tamura,K.
TITLE [A novel genetic disorder of Lynch syndrome - EPCAM gene deletion]
JOURNAL Gan To Kagaku Ryoho 40 (2), 143-147 (2013)
PUBMED 23411950
REMARK GeneRIF: epigenetic inactivation of MSH2 gene due to
hypermethylation of promotor region by the deletion of 3'part of
epithelial cell adhesion molecule(EPCAM) gene
Review article
REFERENCE 3 (bases 1 to 1731)
AUTHORS Alberti,S., Ambrogi,F., Boracchi,P., Fornili,M., Querzoli,P.,
Pedriali,M., La Sorda,R., Lattanzio,R., Tripaldi,R., Piantelli,M.,
Biganzoli,E. and Coradini,D.
TITLE Cytoplasmic Trop-1/Ep-CAM overexpression is associated with a
favorable outcome in node-positive breast cancer
JOURNAL Jpn. J. Clin. Oncol. 42 (12), 1128-1137 (2012)
PUBMED 23072840
REMARK GeneRIF: Cytoplasmic Trop-1/Ep-CAM overexpression associated with
survival in node-positive breast cancer; its expression may have
different clinical implications according to its subcellular
localization.
REFERENCE 4 (bases 1 to 1731)
AUTHORS Kunavisarut,T., Kak,I., Macmillan,C., Ralhan,R. and Walfish,P.G.
TITLE Immunohistochemical analysis based Ep-ICD subcellular localization
index (ESLI) is a novel marker for metastatic papillary thyroid
microcarcinoma
JOURNAL BMC Cancer 12, 523 (2012)
PUBMED 23153310
REMARK GeneRIF: Data indicate that the nuclear and cytoplasmic epithelial
cell adhesion molecule (EpCAM) extracellular domain (EpEx)and
intracellular domain (Ep-ICD) were found to correlate positively
with metastasis in papillary thyroid microcarcinoma (PTMC)
patients.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1731)
AUTHORS Martowicz,A., Spizzo,G., Gastl,G. and Untergasser,G.
TITLE Phenotype-dependent effects of EpCAM expression on growth and
invasion of human breast cancer cell lines
JOURNAL BMC Cancer 12, 501 (2012)
PUBMED 23110550
REMARK GeneRIF: Findings suggest clinical implications for EpCAM-based
targeting strategies in patients with invasive breast cancer.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 1731)
AUTHORS Szala,S., Froehlich,M., Scollon,M., Kasai,Y., Steplewski,Z.,
Koprowski,H. and Linnenbach,A.J.
TITLE Molecular cloning of cDNA for the carcinoma-associated antigen
GA733-2
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (9), 3542-3546 (1990)
PUBMED 2333300
REFERENCE 7 (bases 1 to 1731)
AUTHORS Simon,B., Podolsky,D.K., Moldenhauer,G., Isselbacher,K.J.,
Gattoni-Celli,S. and Brand,S.J.
TITLE Epithelial glycoprotein is a member of a family of epithelial cell
surface antigens homologous to nidogen, a matrix adhesion protein
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (7), 2755-2759 (1990)
PUBMED 2108441
REFERENCE 8 (bases 1 to 1731)
AUTHORS Perez,M.S. and Walker,L.E.
TITLE Isolation and characterization of a cDNA encoding the KS1/4
epithelial carcinoma marker
JOURNAL J. Immunol. 142 (10), 3662-3667 (1989)
PUBMED 2469722
REFERENCE 9 (bases 1 to 1731)
AUTHORS Strnad,J., Hamilton,A.E., Beavers,L.S., Gamboa,G.C., Apelgren,L.D.,
Taber,L.D., Sportsman,J.R., Bumol,T.F., Sharp,J.D. and Gadski,R.A.
TITLE Molecular cloning and characterization of a human
adenocarcinoma/epithelial cell surface antigen complementary DNA
JOURNAL Cancer Res. 49 (2), 314-317 (1989)
PUBMED 2463074
REFERENCE 10 (bases 1 to 1731)
AUTHORS Linnenbach,A.J., Wojcierowski,J., Wu,S.A., Pyrc,J.J., Ross,A.H.,
Dietzschold,B., Speicher,D. and Koprowski,H.
TITLE Sequence investigation of the major gastrointestinal
tumor-associated antigen gene family, GA733
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (1), 27-31 (1989)
PUBMED 2911574
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB044092.1, BP262680.1,
BC014785.1, DA963872.1 and AW050533.1.
This sequence is a reference standard in the RefSeqGene project.
On Dec 19, 2008 this sequence version replaced gi:4505058.
Summary: This gene encodes a carcinoma-associated antigen and is a
member of a family that includes at least two type I membrane
proteins. This antigen is expressed on most normal epithelial cells
and gastrointestinal carcinomas and functions as a homotypic
calcium-independent cell adhesion molecule. The antigen is being
used as a target for immunotherapy treatment of human carcinomas.
Mutations in this gene result in congenital tufting enteropathy.
[provided by RefSeq, Dec 2008].
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 :: AK026585.1, M26481.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-9 DB044092.1 1-9
10-176 BP262680.1 6-172
177-701 BC014785.1 1-525
702-702 DA963872.1 539-539
703-1497 BC014785.1 527-1321
1498-1731 AW050533.1 1-234 c
FEATURES Location/Qualifiers
source 1..1731
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p21"
gene 1..1731
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="epithelial cell adhesion molecule"
/db_xref="GeneID:4072"
/db_xref="HGNC:11529"
/db_xref="MIM:185535"
exon 1..434
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 80
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377705938"
variation 101
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:375055995"
variation 112
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:371271353"
variation 139
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112970128"
variation 167
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376344699"
misc_feature 173..175
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="upstream in-frame stop codon"
variation 304..323
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace=""
/replace="ccctcccgcgagtcccgggc"
/db_xref="dbSNP:201752400"
CDS 359..1303
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="tumor-associated calcium signal transducer 1; human
epithelial glycoprotein-2; adenocarcinoma-associated
antigen; membrane component, chromosome 4, surface marker
(35kD glycoprotein); epithelial glycoprotein 314; cell
surface glycoprotein Trop-1; major gastrointestinal
tumor-associated protein GA733-2"
/codon_start=1
/product="epithelial cell adhesion molecule precursor"
/protein_id="NP_002345.2"
/db_xref="GI:218505670"
/db_xref="CCDS:CCDS1833.1"
/db_xref="GeneID:4072"
/db_xref="HGNC:11529"
/db_xref="MIM:185535"
/translation="
MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNGSKLGRRAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSKSLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQLDLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKAEIKEMGEMHRELNA
"
sig_peptide 359..427
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 428..1300
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/product="epithelial cell adhesion molecule"
misc_feature 428..1153
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="Region: extracellular domain"
misc_feature 428..430
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="non-experimental evidence, no additional
details recorded"
/note="(Probable); propagated from UniProtKB/Swiss-Prot
(P16422.2); other site"
misc_feature 551..>733
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="Thyroglobulin type I repeats.; The N-terminal
region of human thyroglobulin contains 11 type-1 repeats
TY repeats are proposed to be inhibitors of cysteine
proteases; Region: TY; cd00191"
/db_xref="CDD:29153"
misc_feature order(566..568,638..640,692..694,701..703)
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="protease interaction site; other site"
/db_xref="CDD:29153"
misc_feature 1154..1222
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="Region: transmembrane domain"
misc_feature 1154..1222
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P16422.2);
transmembrane region"
misc_feature 1223..1300
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/note="Region: cytoplasmic domain"
variation 363
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201402370"
variation 364
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:374563131"
variation 408
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:116429842"
exon 435..542
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 461
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141751351"
variation 466
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201251927"
variation 476
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372660671"
variation 492
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372142268"
variation 493
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72882770"
variation 499
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:186094931"
variation 505
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190508047"
variation 517
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:150562209"
variation 519
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376674068"
variation 523
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201645229"
variation 529
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:369992289"
variation 537
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147494515"
variation 542
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373605377"
exon 543..783
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 548
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:11554293"
variation 555
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:267606785"
variation 568
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141843322"
variation 608
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139208605"
variation 625
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:146480420"
variation 628
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:199599343"
variation 637
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200529878"
variation 655
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143264703"
variation 656
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149274310"
variation 658
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200150189"
variation 662
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:34474955"
variation 679
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201970884"
variation 690
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373819791"
variation 693
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:146913093"
variation 700
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200495968"
variation 702
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1126497"
variation 703
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115212523"
variation 704..705
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace=""
/replace="tg"
/db_xref="dbSNP:111849096"
variation 718
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371217745"
exon 784..849
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 816
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:189732445"
variation 844
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144245461"
variation 845
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148725106"
variation 846
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:146044104"
exon 850..913
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 851
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146685071"
variation 873
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:74531854"
variation 874
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371372017"
exon 914..1015
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 920
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201228878"
variation 935
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200676965"
variation 965
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374380877"
variation 974
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367993015"
variation 989
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149875996"
exon 1016..1216
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 1025
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:372674836"
variation 1045
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:13398742"
variation 1056
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202126213"
variation 1097
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:147958220"
variation 1101
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803936"
variation 1126
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200600253"
variation 1129
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202201524"
variation 1173
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377276151"
variation 1175
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148106293"
variation 1189
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115283528"
variation 1216
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138718438"
exon 1217..1261
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 1260
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200490326"
exon 1262..1718
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/inference="alignment:Splign:1.39.8"
variation 1276
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:376919625"
variation 1319
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147650232"
STS 1322..1553
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/standard_name="STS-M26481"
/db_xref="UniSTS:17612"
variation 1339
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:77204711"
variation 1344
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200991028"
variation 1347
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:368515082"
STS 1355..1602
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/standard_name="STS-N92767"
/db_xref="UniSTS:75378"
STS 1369..1603
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/standard_name="RH65104"
/db_xref="UniSTS:87968"
variation 1376
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803881"
variation 1397
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111488650"
variation 1421
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1421"
variation 1479
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181258023"
variation 1518
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:3203645"
STS 1531..1643
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/standard_name="RH67888"
/db_xref="UniSTS:1547"
variation 1537
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:140584057"
variation 1544
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:184633732"
variation 1561
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:376013663"
variation 1564
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:189199539"
variation 1568
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11554292"
polyA_signal 1585..1590
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
variation 1600
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1126913"
polyA_site 1621
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
variation 1648
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:373489094"
variation 1656
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:59080121"
variation 1686
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149731012"
polyA_signal 1690..1695
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
polyA_site 1718
/gene="EPCAM"
/gene_synonym="DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8;
KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1"
ORIGIN
aactgcagcgccggggctgggggaggggagcctactcactcccccaactcccgggcggtgactcatcaacgagcaccagcggccagaggtgagcagtcccgggaaggggccgagaggcggggccgccaggtcgggcaggtgtgcgctccgccccgccgcgcgcacagagcgctagtccttcggcgagcgagcaccttcgacgcggtccggggaccccctcgtcgctgtcctcccgacgcggacccgcgtgccccaggcctcgcgctgcccggccggctcctcgtgtcccactcccggcgcacgccctcccgcgagtcccgggcccctcccgcgcccctcttctcggcgcgcgcgcagcatggcgcccccgcaggtcctcgcgttcgggcttctgcttgccgcggcgacggcgacttttgccgcagctcaggaagaatgtgtctgtgaaaactacaagctggccgtaaactgctttgtgaataataatcgtcaatgccagtgtacttcagttggtgcacaaaatactgtcatttgctcaaagctggctgccaaatgtttggtgatgaaggcagaaatgaatggctcaaaacttgggagaagagcaaaacctgaaggggccctccagaacaatgatgggctttatgatcctgactgcgatgagagcgggctctttaaggccaagcagtgcaacggcacctccatgtgctggtgtgtgaacactgctggggtcagaagaacagacaaggacactgaaataacctgctctgagcgagtgagaacctactggatcatcattgaactaaaacacaaagcaagagaaaaaccttatgatagtaaaagtttgcggactgcacttcagaaggagatcacaacgcgttatcaactggatccaaaatttatcacgagtattttgtatgagaataatgttatcactattgatctggttcaaaattcttctcaaaaaactcagaatgatgtggacatagctgatgtggcttattattttgaaaaagatgttaaaggtgaatccttgtttcattctaagaaaatggacctgacagtaaatggggaacaactggatctggatcctggtcaaactttaatttattatgttgatgaaaaagcacctgaattctcaatgcagggtctaaaagctggtgttattgctgttattgtggttgtggtgatagcagttgttgctggaattgttgtgctggttatttccagaaagaagagaatggcaaagtatgagaaggctgagataaaggagatgggtgagatgcatagggaactcaatgcataactatataatttgaagattatagaagaagggaaatagcaaatggacacaaattacaaatgtgtgtgcgtgggacgaagacatctttgaaggtcatgagtttgttagtttaacatcatatatttgtaatagtgaaacctgtactcaaaatataagcagcttgaaactggctttaccaatcttgaaatttgaccacaagtgtcttatatatgcagatctaatgtaaaatccagaacttggactccatcgttaaaattatttatgtgtaacattcaaatgtgtgcattaaatatgcttccacagtaaaatctgaaaaactgatttgtgattgaaagctgcctttctatttacttgagtcttgtacatacatacttttttatgagctatgaaataaaacattttaaactgaatttcttaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4072 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:4072 -> Biological process: GO:0001657 [ureteric bud development] evidence: IEA
GeneID:4072 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IDA
GeneID:4072 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:4072 -> Cellular component: GO:0005923 [tight junction] evidence: IDA
GeneID:4072 -> Cellular component: GO:0009986 [cell surface] evidence: IEA
GeneID:4072 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
GeneID:4072 -> Cellular component: GO:0016323 [basolateral plasma membrane] evidence: IDA
GeneID:4072 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IDA
GeneID:4072 -> Cellular component: GO:0016328 [lateral plasma membrane] evidence: IDA
by
@meso_cacase at
DBCLS
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