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mutLBSgeneDB |
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| Gene summary for ERBB4 |
 Gene summary |
| Basic gene Info. | Gene symbol | ERBB4 |
| Gene name | erb-b2 receptor tyrosine kinase 4 | |
| Synonyms | ALS19|HER4|p180erbB4 | |
| Cytomap | UCSC genome browser: 2q33.3-q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001042599.1, NM_005235.2, | |
| Description | avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4receptor tyrosine-protein kinase erbB-4tyrosine kinase-type cell surface receptor HER4v-erb-a erythroblastic | |
| Modification date | 20141220 | |
| dbXrefs | MIM : 600543 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000178568 | ||
| HPRD : 02767 | ||
| Vega : OTTHUMG00000133012 | ||
| Protein | UniProt: Q15303 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ERBB4 | |
| BioGPS: 2066 | ||
| Pathway | NCI Pathway Interaction Database: ERBB4 | |
| KEGG: ERBB4 | ||
| REACTOME: ERBB4 | ||
| Pathway Commons: ERBB4 | ||
| Context | iHOP: ERBB4 | |
| ligand binding site mutation search in PubMed: ERBB4 | ||
| UCL Cancer Institute: ERBB4 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007165 | signal transduction | 10572067 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 10353604 | GO:0016477 | cell migration | 9135143 | GO:0018108 | peptidyl-tyrosine phosphorylation | 18334220 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 10353604 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 10353604 | GO:0046777 | protein autophosphorylation | 18334220 |
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| Ligand binding site mutations for ERBB4 |
| 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 | K751 | K751Q | COAD | 2 | E112 | R114Q | COAD | 1 | F862 | F862L | HNSC | 1 | V732 | T731M | HNSC | 1 | E806 | E806D | HNSC | 1 | M799 | M799L | KIRC | 1 | L850 | V849I | LUAD | 1 | L864 | R866K | LUAD | 1 | E806 | L805V | LUAD | 1 | F120 | A118S | LUAD | 1 | G802 | G802V | LUAD | 1 | S67 | E69K | LUSC | 1 | M799 | P800S | LUSC | 1 | D126 | G127E | SKCM | 1 | E112 | R114Q | SKCM | 1 | E112 | D113N | SKCM | 1 | M799 | P800L | SKCM | 1 | Q151 | D150N | SKCM | 1 | G802 | G802C | STAD | 1 | R488 | R488W | STAD | 1 | K51 | R50S | STAD | 1 | L798 | L798P | STAD | 1 | Q44 | Y46C | STAD | 1 | M772 | S774G | STAD | 1 | K51 | R50H | UCEC | 1 | K751 | K751T | UCEC | 1 | M772 | I771T | 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. |
| Clinical information for ERBB4 from My Cancer Genome. |
| Erb-b2 receptor tyrosine kinase 4 (ERBB4) 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 ERBB4 |
| 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 | G802 | G802V | 0.26082605 | F862 | F862L | 0.16624251 | G802 | G802C | 0.15686022 | S67 | E69K | -1.616035 | M799 | P800S | -1.6150644 | L798 | L798P | -1.5726942 | E806 | E806D | -1.4953462 | E112 | R114Q | -1.299852 | M772 | I771T | -1.2588263 | M772 | S774G | -1.2228344 | R488 | R488W | -1.0152976 | M799 | P800L | -0.98959059 | L864 | R866K | -0.87476052 | K51 | R50H | -0.850506 | K51 | R50S | -0.84747852 | E112 | D113N | -0.78861658 | D126 | G127E | -0.7606142 | Q151 | D150N | -0.63053544 | M799 | M799L | -0.62622144 | L850 | V849I | -0.57757173 | F120 | A118S | -0.56474251 | Q44 | Y46C | -0.54714339 | E806 | L805V | -0.39264725 | K751 | K751T | -0.31258994 | K751 | K751Q | -0.2981069 | V732 | T731M | -0.17851682 |
| (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 ERBB4 from PDB |
| PDB ID | PDB title | PDB structure | 3BCE | Crystal structure of the ErbB4 kinase |  |
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| Differential gene expression and gene-gene network for ERBB4 |
| 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 ERBB4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025202 | Melanoma | 10 | Biomarker, GeneticVariation |
| umls:C3715155 | AMYOTROPHIC LATERAL SCLEROSIS 19 | 1 | GeneticVariation |
| umls:C0037286 | Skin Neoplasms | 1 | Biomarker, GeneticVariation |
| umls:C0016978 | Gallbladder 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 ERBB4 |
| 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 |
| Approved | DB08916 | Afatinib | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ERBB4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GW7 | N-{3-CHLORO-4-[(3-FLUOROBENZYL)OXY]PHENYL}-6-ETHYLTHIENO[3,2-D]PYRIMIDIN-4-AMINE | 2r4b | A | V732 K751 M772 L798 M799 G802 L850 F862 | GW7 | N-{3-CHLORO-4-[(3-FLUOROBENZYL)OXY]PHENYL}-6-ETHYLTHIENO[3,2-D]PYRIMIDIN-4-AMINE | 2r4b | B | V732 K751 M772 M799 G802 E806 L850 F862 L864 |
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| Conservation information for LBS of ERBB4 |
| Multiple alignments for Q15303 in multiple species |
| LBS | AA sequence | # species | Species | A749 | VKIPVAIKILN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C803 | LMPHGCLLEYV | 2 | Homo sapiens, Rattus norvegicus | C803 | LMPHGCLLDYV | 1 | Mus musculus | D126 | LNYRKDGNFGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D376 | TGIHGDPYNAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D41 | LSSLSDLEQQY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D861 | HVKITDFGLAR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E112 | GTKLYEDRYAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E806 | HGCLLEYVHEH | 2 | Homo sapiens, Rattus norvegicus | E806 | HGCLLDYVHEH | 1 | Mus musculus | F120 | YALAIFLNYRK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F862 | VKITDFGLARL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G802 | QLMPHGCLLEY | 2 | Homo sapiens, Rattus norvegicus | G802 | QLMPHGCLLDY | 1 | Mus musculus | I750 | KIPVAIKILNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K125 | FLNYRKDGNFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K35 | AGTENKLSSLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K438 | SLLILKQQGIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K51 | YRALRKYYENC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K751 | IPVAIKILNET | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L121 | ALAIFLNYRKD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L36 | GTENKLSSLSD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L369 | GNLIFLVTGIH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L39 | NKLSSLSDLEQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L42 | SSLSDLEQQYR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L435 | SGLSLLILKQQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L437 | LSLLILKQQGI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L783 | PHLVRLLGVCL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L794 | SPTIQLVTQLM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L798 | QLVTQLMPHGC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L850 | AARNVLVKSPN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L864 | ITDFGLARLLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L91 | YVLVALNQFRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M772 | DEALIMASMDH | 2 | Homo sapiens, Mus musculus | M772 | DEALIMASVDH | 1 | Rattus norvegicus | M799 | LVTQLMPHGCL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N34 | CAGTENKLSSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N379 | HGDPYNAIDAI | 2 | Mus musculus, Rattus norvegicus | N379 | HGDPYNAIEAI | 1 | Homo sapiens | Q151 | GVYVDQNKFLC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q346 | SLMSAQTVDSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q405 | GFLNIQSWPPN | 2 | Homo sapiens, Mus musculus | Q405 | GFLNIQTWPPN | 1 | Rattus norvegicus | Q44 | LSDLEQQYRAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q797 | IQLVTQLMPHG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R484 | STINQRIVIRD | 2 | Homo sapiens, Mus musculus | R484 | STVNQRIVIRD | 1 | Rattus norvegicus | R488 | QRIVIRDNRRA | 2 | Mus musculus, Rattus norvegicus | R488 | QRIVIRDNRKA | 1 | Homo sapiens | R782 | HPHLVRLLGVC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S37 | TENKLSSLSDL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S38 | ENKLSSLSDLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S40 | KLSSLSDLEQQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S67 | NLEITSIEHNR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T371 | LIFLVTGIHGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T796 | TIQLVTQLMPH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T860 | NHVKITDFGLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V370 | NLIFLVTGIHG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V732 | GAFGTVYKGIW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V781 | DHPHLVRLLGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y111 | RGTKLYEDRYA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y123 | AIFLNYRKDGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y148 | LNGGVYVDQNK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y378 | IHGDPYNAIDA | 2 | Mus musculus, Rattus norvegicus | Y378 | IHGDPYNAIEA | 1 | Homo sapiens | Y429 | GGRVLYSGLSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y459 | SAGNIYITDNS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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