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mutLBSgeneDB |
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| Gene summary for EPCAM |
 Gene summary |
| Basic gene Info. | Gene symbol | EPCAM |
| Gene name | epithelial cell adhesion molecule | |
| Synonyms | DIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACSTD1|TROP1 | |
| Cytomap | UCSC genome browser: 2p21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002354.2, | |
| Description | adenocarcinoma-associated antigencell surface glycoprotein Trop-1epithelial glycoprotein 314human epithelial glycoprotein-2major gastrointestinal tumor-associated protein GA733-2membrane component, chromosome 4, surface marker (35kD glycoprotein)tum | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 185535 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000119888 | ||
| HPRD : 01709 | ||
| Vega : OTTHUMG00000128853 | ||
| Protein | UniProt: P16422 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPCAM | |
| BioGPS: 4072 | ||
| Pathway | NCI Pathway Interaction Database: EPCAM | |
| KEGG: EPCAM | ||
| REACTOME: EPCAM | ||
| Pathway Commons: EPCAM | ||
| Context | iHOP: EPCAM | |
| ligand binding site mutation search in PubMed: EPCAM | ||
| UCL Cancer Institute: EPCAM | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0008284 | positive regulation of cell proliferation | 15195135 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 15195135 | GO:2000048 | negative regulation of cell-cell adhesion mediated by cadherin | 9382878 |
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| Ligand binding site mutations for EPCAM |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V212 | A210T | LUAD | 1 | D232 | D232N | SKCM | 1 | Y174 | Y174C | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for EPCAM |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | V212 | A210T | -1.4429606 | D232 | D232N | -1.1902465 | Y174 | Y174C | -0.52426291 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for EPCAM from PDB |
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| Differential gene expression and gene-gene network for EPCAM |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for EPCAM |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 44 | Biomarker, GeneticVariation |
| umls:C2750737 | Diarrhea 5, With Tufting Enteropathy, Congenital | 6 | Biomarker, GeneticVariation |
| umls:C0919267 | Ovarian Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C0030297 | Pancreatic Neoplasms | 2 | Biomarker |
| umls:C2931459 | Lynch syndrome I (site-specific colonic cancer) | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EPCAM |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Investigational | DB05319 | oportuzumab monatox | Biotech |  |
| Investigational | DB05831 | ING-1 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of EPCAM go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | DMU | DECYL-BETA-D-MALTOPYRANOSIDE | 4mzv | A | Y174 V212 D232 |
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| Conservation information for LBS of EPCAM |
| Multiple alignments for P16422 in multiple species |
| LBS | AA sequence | # species | Species | D219 | YYFEKDVKGES | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta | D219 | YYFEKDVKDDS | 1 | Gallus gallus | D219 | YYFEKDVKDES | 1 | Bos taurus | D232 | SSKSMDLRVNG | 2 | Mus musculus, Rattus norvegicus | D232 | SKK-MDLTVNG | 1 | Homo sapiens | D232 | NNK-LNMNIDN | 1 | Gallus gallus | D232 | SKR-MDLRVNG | 1 | Bos taurus | D232 | SKK-MDLRVNG | 1 | Macaca mulatta | F216 | DVAYYFEKDVK | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus, Macaca mulatta | I146 | TYWIIIELKHK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Macaca mulatta | I146 | TTWIIIEMRHA | 1 | Gallus gallus | I170 | ALQKEITTRYQ | 1 | Homo sapiens | I170 | YLKDTITSRYM | 1 | Gallus gallus | I170 | ALQEAFTSRYK | 1 | Mus musculus | I170 | ALQDTFASRYM | 1 | Rattus norvegicus | I170 | ALKDVITNRYQ | 1 | Bos taurus | I170 | ALEEAIKTRYQ | 1 | Macaca mulatta | I193 | NNVITIDLMQN | 2 | Mus musculus, Rattus norvegicus | I193 | NNVITIDLVQN | 1 | Homo sapiens | I193 | NPTITIDLKQN | 1 | Gallus gallus | I193 | NDVITIDLVQN | 1 | Bos taurus | I193 | DNVITIDLVQN | 1 | Macaca mulatta | K221 | FEKDVKGESLF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta | K221 | FEKDVKDDSIF | 1 | Gallus gallus | K221 | FEKDVKDESLF | 1 | Bos taurus | K229 | SLFHSKK-MDL | 2 | Homo sapiens, Macaca mulatta | K229 | SLFHSSKSMDL | 2 | Mus musculus, Rattus norvegicus | K229 | SIFLNNK-LNM | 1 | Gallus gallus | K229 | SLFHSKR-MDL | 1 | Bos taurus | L166 | SLRTALQKEIT | 1 | Homo sapiens | L166 | SLTRYLKDTIT | 1 | Gallus gallus | L166 | SLQTALQEAFT | 1 | Mus musculus | L166 | SLHTALQDTFA | 1 | Rattus norvegicus | L166 | SLQSALKDVIT | 1 | Bos taurus | L166 | SLRTALEEAIK | 1 | Macaca mulatta | P244 | QLDLDPGQTLI | 2 | Homo sapiens, Macaca mulatta | P244 | ELKFD--NMMV | 1 | Gallus gallus | P244 | PLDLDPGQTLI | 1 | Mus musculus | P244 | LLDLDPGQTLI | 1 | Rattus norvegicus | P244 | LLDLDPGRTSI | 1 | Bos taurus | R173 | KEITTRYQLDP | 1 | Homo sapiens | R173 | DTITSRYMLDG | 1 | Gallus gallus | R173 | EAFTSRYKLNQ | 1 | Mus musculus | R173 | DTFASRYMLNP | 1 | Rattus norvegicus | R173 | DVITNRYQLDP | 1 | Bos taurus | R173 | EAIKTRYQLDP | 1 | Macaca mulatta | V212 | VDIADVAYYFE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Macaca mulatta | V212 | VDITDVAYYFE | 1 | Gallus gallus | V220 | YFEKDVKGESL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta | V220 | YFEKDVKDDSI | 1 | Gallus gallus | V220 | YFEKDVKDESL | 1 | Bos taurus | Y174 | EITTRYQLDPK | 1 | Homo sapiens | Y174 | TITSRYMLDGR | 1 | Gallus gallus | Y174 | AFTSRYKLNQK | 1 | Mus musculus | Y174 | TFASRYMLNPK | 1 | Rattus norvegicus | Y174 | VITNRYQLDPK | 1 | Bos taurus | Y174 | AIKTRYQLDPK | 1 | Macaca mulatta |
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