|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for BACE2 |
 Gene summary |
| Basic gene Info. | Gene symbol | BACE2 |
| Gene name | beta-site APP-cleaving enzyme 2 | |
| Synonyms | AEPLC|ALP56|ASP1|ASP21|BAE2|CEAP1|DRAP | |
| Cytomap | UCSC genome browser: 21q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_012105.4, NM_138991.2,NM_138992.2, | |
| Description | 56 kDa aspartic-like proteaseDown syndrome region aspartic proteaseaspartyl protease 1beta-secretase 2beta-site amyloid beta A4 precursor protein-cleaving enzyme 2memapsin-1membrane-associated aspartic protease 1theta-secretasetransmembrane aspart | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605668 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000182240 | ||
| HPRD : 05744 | ||
| Vega : OTTHUMG00000086742 | ||
| Protein | UniProt: Q9Y5Z0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BACE2 | |
| BioGPS: 25825 | ||
| Pathway | NCI Pathway Interaction Database: BACE2 | |
| KEGG: BACE2 | ||
| REACTOME: BACE2 | ||
| Pathway Commons: BACE2 | ||
| Context | iHOP: BACE2 | |
| ligand binding site mutation search in PubMed: BACE2 | ||
| UCL Cancer Institute: BACE2 | ||
| 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:0006509 | membrane protein ectodomain proteolysis | 10591213 |
| Top |
| Ligand binding site mutations for BACE2 |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K148 | V147M | COAD | 1 | R310 | R310C | COAD | 1 | D303 | D303G | STAD | 1 | K148 | V147L | 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. |
| Top |
| Protein structure related information for BACE2 |
| 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 |
 |
| 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 | D303 | D303G | -0.93737833 | R310 | R310C | -0.92621191 | K148 | V147M | -0.86705986 | K148 | V147L | -0.54880799 |
| (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 BACE2 from PDB |
| Top |
| Differential gene expression and gene-gene network for BACE2 |
| 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) |
| Top |
| Top |
| Phenotype information for BACE2 |
| 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 |
| Top |
| Pharmacological information for BACE2 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of BACE2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of BACE2 |
| Multiple alignments for Q9Y5Z0 in multiple species |
| LBS | AA sequence | # species | Species | A409 | ALVIGATVMEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D110 | LQILVDTGSSN | 1 | Homo sapiens | D110 | VQILVDTGSSN | 1 | Mus musculus | D110 | VRILVDTGSSN | 1 | Rattus norvegicus | D303 | DKAIVDSGTTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D87 | DNLQGDSGRGY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E413 | GATVMEGFYVV | 2 | Mus musculus, Rattus norvegicus | E413 | GATVMEGFYVI | 1 | Homo sapiens | F186 | FESENFFLPGI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G112 | ILVDTGSSNFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G305 | AIVDSGTTLLR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G388 | PMMGAGFNYEC | 2 | Mus musculus, Rattus norvegicus | G388 | PMMGAGLNYEC | 1 | Homo sapiens | G89 | LQGDSGRGYYL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G91 | GDSGRGYYLEM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I196 | IKWNGILGLAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K148 | FDVTVKYTQGS | 2 | Homo sapiens, Mus musculus | K148 | FEVTVKYTQGS | 1 | Rattus norvegicus | L108 | QKLQILVDTGS | 1 | Homo sapiens | L108 | QKVQILVDTGS | 1 | Mus musculus | L108 | QKVRILVDTGS | 1 | Rattus norvegicus | L188 | SENFFLPGIKW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L389 | MMGAGFNYECY | 2 | Mus musculus, Rattus norvegicus | L389 | MMGAGLNYECY | 1 | Homo sapiens | N185 | IFESENFFLPG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q151 | TVKYTQGSWTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R310 | GTTLLRLPQKV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R90 | QGDSGRGYYLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S113 | LVDTGSSNFAV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S304 | KAIVDSGTTLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S88 | NLQGDSGRGYY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T150 | VTVKYTQGSWT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T306 | IVDSGTTLLRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T307 | VDSGTTLLRLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T410 | LVIGATVMEGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W193 | LPGIKWNGILG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y149 | DVTVKYTQGSW | 2 | Homo sapiens, Mus musculus | Y149 | EVTVKYTQGSW | 1 | Rattus norvegicus | Y273 | IKEEWYYQIEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y92 | DSGRGYYLEML | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |