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mutLBSgeneDB |
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| Gene summary for AP2B1 |
 Gene summary |
| Basic gene Info. | Gene symbol | AP2B1 |
| Gene name | adaptor-related protein complex 2, beta 1 subunit | |
| Synonyms | ADTB2|AP105B|AP2-BETA|CLAPB1 | |
| Cytomap | UCSC genome browser: 17q11.2-q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001030006.1, NM_001282.2, | |
| Description | AP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor-related protein complex 2 subunit betabeta-2-adaptinbeta-ada | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601025 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000006125 | ||
| HPRD : 03015 | ||
| Vega : OTTHUMG00000179924 | ||
| Protein | UniProt: P63010 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AP2B1 | |
| BioGPS: 163 | ||
| Pathway | NCI Pathway Interaction Database: AP2B1 | |
| KEGG: AP2B1 | ||
| REACTOME: AP2B1 | ||
| Pathway Commons: AP2B1 | ||
| Context | iHOP: AP2B1 | |
| ligand binding site mutation search in PubMed: AP2B1 | ||
| UCL Cancer Institute: AP2B1 | ||
| 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 |
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| Ligand binding site mutations for AP2B1 |
| 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 | A806 | A806V | BLCA | 1 | R904 | R904P | OV | 1 | L838 | A839T | UCEC | 1 | N802 | N802S | 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 AP2B1 |
| 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 | N802 | N802S | -0.85464634 | R904 | R904P | -0.67939238 | L838 | A839T | -0.65619347 | A806 | A806V | -0.45372156 |
| (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 AP2B1 from PDB |
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| Differential gene expression and gene-gene network for AP2B1 |
| 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 AP2B1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AP2B1 |
| 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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| 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 AP2B1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,ALA,PHE) | 2g30 | A | A806 | III | Peptide ligand (ILE,VAL,PHE) | 2iv8 | A | A806 | III | Peptide ligand (SER,PHE,GLY,ASP,GLY,PHE,ALA,ASP,PHE) | 2iv9 | A | A806 | III | Peptide ligand (ASP,ASP,GLY,LEU,ASP,GLU,ALA,PHE,SER,ARG,LEU,ALA,GLN,SER,ARG,THR) | 2g30 | A | L838 R904 | III | Peptide ligand (ASP,ASP,ASP,ILE,VAL,PHE,GLU,ASP,PHE,ALA,ARG,GLN,ARG,LEU) | 2iv8 | A | L838 R904 | III | Peptide ligand (SER,PHE,GLY,ASP,GLY,PHE,ALA,ASP,PHE) | 2iv9 | B | N802 |
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| Conservation information for LBS of AP2B1 |
| Multiple alignments for P63010 in multiple species |
| LBS | AA sequence | # species | Species | A712 | YVAPKAVWLPA | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | A754 | HMTDFAIQFNK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | A806 | NNLQVAVKNNI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | A877 | NVYTIAKRNVE | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | C818 | VFYFSCLIPLN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D812 | VKNNIDVFYFS | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E849 | IPNENELQFQI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E882 | AKRNVEGQDML | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E902 | IWILAELRIQP | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | F757 | DFAIQFNKNSF | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | F837 | MERQVFLATWK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I876 | NNVYTIAKRNV | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K719 | WLPAVKAKGLE | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K808 | LQVAVKNNIDV | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K842 | FLATWKDIPNE | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | L819 | FYFSCLIPLNV | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | L838 | ERQVFLATWKD | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | N758 | FAIQFNKNSFG | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | N802 | MEPLNNLQVAV | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | N846 | WKDIPNENELQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | P716 | KAVWLPAVKAK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | P799 | VMKMEPLNNLQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Q756 | TDFAIQFNKNS | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Q804 | PLNNLQVAVKN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Q835 | GKMERQVFLAT | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Q884 | RNVEGQDMLYQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | R834 | DGKMERQVFLA | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | R879 | YTIAKRNVEGQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | R904 | ILAELRIQPGN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | S817 | DVFYFSCLIPL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | S915 | PNYTLSLKCRA | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V713 | VAPKAVWLPAV | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V805 | LNNLQVAVKNN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V813 | KNNIDVFYFSC | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V881 | IAKRNVEGQDM | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | W714 | APKAVWLPAVK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | W841 | VFLATWKDIPN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Y815 | NIDVFYFSCLI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Y888 | GQDMLYQSLKL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus |
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