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mutLBSgeneDB |
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| Gene summary for ERBB3 |
 Gene summary |
| Basic gene Info. | Gene symbol | ERBB3 |
| Gene name | erb-b2 receptor tyrosine kinase 3 | |
| Synonyms | ErbB-3|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3 | |
| Cytomap | UCSC genome browser: 12q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001005915.1, NM_001982.3, | |
| Description | human epidermal growth factor receptor 3proto-oncogene-like protein c-ErbB-3receptor tyrosine-protein kinase erbB-3tyrosine kinase-type cell surface receptor HER3v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 190151 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000065361 | ||
| HPRD : 01820 | ||
| Vega : OTTHUMG00000170140 | ||
| Protein | UniProt: P21860 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ERBB3 | |
| BioGPS: 2065 | ||
| Pathway | NCI Pathway Interaction Database: ERBB3 | |
| KEGG: ERBB3 | ||
| REACTOME: ERBB3 | ||
| Pathway Commons: ERBB3 | ||
| Context | iHOP: ERBB3 | |
| ligand binding site mutation search in PubMed: ERBB3 | ||
| UCL Cancer Institute: ERBB3 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for ERBB3. | 1. "Buac K, Watkins-Chow DE, Loftus SK, Larson DM, Incao A, Gibney G, Pavan WJ. A Sox10 expression screen identifies an amino acid essential for Erbb3 function. PLoS Genet. 2008 Sep 5;4(9):e1000177. doi: 10.1371/journal.pgen.1000177. PubMed PMID: 18773073; PubMed Central PMCID: PMC2518866. " 18773073 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007162 | negative regulation of cell adhesion | 7556068 | GO:0007165 | signal transduction | 10572067 | GO:0009968 | negative regulation of signal transduction | 11389077 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7556068 | GO:0042127 | regulation of cell proliferation | 11389077 | GO:0051048 | negative regulation of secretion | 10559227 |
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| Ligand binding site mutations for ERBB3 |
| 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 | V723 | V723A | COAD | 2 | P791,G793 | L792V | BRCA | 1 | L785 | L783V | BRCA | 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. |
| Clinical information for ERBB3 from My Cancer Genome. |
| Erb-b2 receptor tyrosine kinase 3 (ERBB3) is a gene that encodes a receptor tyrosine kinase in the epidermal growth factor family. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer. Related Pathways: Receptor tyrosine kinase/growth factor signaling. Modified: December 4, 2015 |
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| Protein structure related information for ERBB3 |
| 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 | V723 | V723A | -1.2801911 | P791 | L792V | -0.55865997 | G793 | L792V | -0.55865997 | L785 | L783V | -0.4543736 |
| (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 ERBB3 from PDB |
| PDB ID | PDB title | PDB structure | 3LMG | Crystal structure of the ERBB3 kinase domain in complex with AMP-PNP |  |
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| Differential gene expression and gene-gene network for ERBB3 |
| 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 ERBB3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 5 | AlteredExpression, Biomarker |
| umls:C0024121 | Lung Neoplasms | 3 | AlteredExpression, Biomarker |
| umls:C0016978 | Gallbladder Neoplasms | 1 | Biomarker |
| umls:C2931822 | Nasopharyngeal carcinoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ERBB3 |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ERBB3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ERBB3 |
| Multiple alignments for P21860 in multiple species |
| LBS | AA sequence | # species | Species | A851 | SQVQVADFGVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C740 | IKIPVCIKVIE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D852 | QVQVADFGVAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G716 | KLKVLGSGVFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G718 | KVLGSGVFGTV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G793 | QYLPLGSLLDH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K742 | IPVCIKVIEDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L715 | RKLKVLGSGVF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L785 | GSSLQLVTQYL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L790 | LVTQYLPLGSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L841 | ALRNVMLKSPS | 2 | Mus musculus, Rattus norvegicus | L841 | AARNVLLKSPS | 1 | Homo sapiens | N834 | SMVHRDLALRN | 2 | Mus musculus, Rattus norvegicus | N834 | GMVHRNLAARN | 1 | Homo sapiens | N839 | DLALRNVMLKS | 2 | Mus musculus, Rattus norvegicus | N839 | NLAARNVLLKS | 1 | Homo sapiens | P791 | VTQYLPLGSLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q788 | LQLVTQYLPLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R838 | RDLALRNVMLK | 2 | Mus musculus, Rattus norvegicus | R838 | RNLAARNVLLK | 1 | Homo sapiens | S717 | LKVLGSGVFGT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S794 | YLPLGSLLDHV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T787 | SLQLVTQYLPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V719 | VLGSGVFGTVH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V723 | GVFGTVHKGIW | 2 | Mus musculus, Rattus norvegicus | V723 | GVFGTVHKGVW | 1 | Homo sapiens | V772 | DHAHIVRLLGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V855 | VADFGVADLLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y789 | QLVTQYLPLGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y868 | DKQLLHSEAKT | 2 | Mus musculus, Rattus norvegicus | Y868 | DKQLLYSEAKT | 1 | Homo sapiens |
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