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mutLBSgeneDB |
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| Gene summary for MGAM |
 Gene summary |
| Basic gene Info. | Gene symbol | MGAM |
| Gene name | maltase-glucoamylase (alpha-glucosidase) | |
| Synonyms | MG|MGA | |
| Cytomap | UCSC genome browser: 7q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004668.2, | |
| Description | brush border hydrolasemaltase-glucoamylase, intestinal | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 154360 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000257335 | ||
| HPRD : 01104 | ||
| Vega : OTTHUMG00000158395 | ||
| Protein | UniProt: O43451 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MGAM | |
| BioGPS: 8972 | ||
| Pathway | NCI Pathway Interaction Database: MGAM | |
| KEGG: MGAM | ||
| REACTOME: MGAM | ||
| Pathway Commons: MGAM | ||
| Context | iHOP: MGAM | |
| ligand binding site mutation search in PubMed: MGAM | ||
| UCL Cancer Institute: MGAM | ||
| 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 MGAM |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N827 | T829I | SKCM | 2 | N836,A832 | R834Q | UCEC | 2 | N836,A832 | R834Q | COAD | 1 | N836,A832 | R834Q | GBM | 1 | R1510 | R1510H | GBM | 1 | K566 | L568V | LUAD | 1 | P1159 | P1160T | LUAD | 1 | N836,A832 | R834Q | LUAD | 1 | Y385 | R384H | PRAD | 1 | N293 | N295S | SKCM | 1 | D413 | A412V | SKCM | 1 | W527 | G525E | SKCM | 1 | D628 | G627E | SKCM | 1 | D289 | R288K | SKCM | 1 | F536 | S534F | SKCM | 1 | W492 | G494R | SKCM | 1 | I1280 | D1281N | SKCM | 1 | N293 | G294R | SKCM | 1 | I1280 | D1281N | 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 MGAM |
| 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 | N827 | T829I | 0.18865857 | K566 | L568V | -1.4782777 | Y385 | R384H | -1.4393251 | I1280 | D1281N | -1.4316355 | R1510 | R1510H | -1.2136285 | D289 | R288K | -1.1455624 | A832 | R834Q | -1.0561999 | N836 | R834Q | -1.0561999 | D628 | G627E | -0.94154273 | N293 | G294R | -0.89393119 | N293 | N295S | -0.78897461 | W527 | G525E | -0.66142426 | D413 | A412V | -0.5800525 | W492 | G494R | -0.54827338 | F536 | S534F | -0.49292296 | P1159 | P1160T | -0.2232099 |
| (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 MGAM from PDB |
| PDB ID | PDB title | PDB structure | 3TON | Crystral Structure of the C-terminal Subunit of Human Maltase-Glucoamylase |  |
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| Differential gene expression and gene-gene network for MGAM |
| 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 MGAM |
| 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 MGAM |
| 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|investigational | DB00284 | Acarbose | Small molecule |  |
| Approved | DB00491 | Miglitol | Small molecule |  |
| Approved|investigational | DB04878 | Voglibose | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MGAM go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ACR | ACARBOSE | 3top | B | I1280 R1510 | ACR | ACARBOSE | 3top | A | P1159 I1280 R1510 |
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| Conservation information for LBS of MGAM |
| Multiple alignments for O43451 in multiple species |
| LBS | AA sequence | # species | Species |
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