mutLBSgeneDB |
Gene summary for AMY2A |
Gene summary |
Basic gene Info. | Gene symbol | AMY2A |
Gene name | amylase, alpha 2A (pancreatic) | |
Synonyms | AMY2|AMY2B|PA | |
Cytomap | UCSC genome browser: 1p21 | |
Type of gene | protein-coding | |
RefGenes | NM_000699.2, | |
Description | 1,4-alpha-D-glucan glucanohydrolasealpha-amylaseamylase, pancreatic, alpha-2Afound in the pancreasglycogenasepancreatic alpha-amylasepancreatic amylase 2Apancreatic amylase alpha 2A | |
Modification date | 20141207 | |
dbXrefs | MIM : 104650 | |
HGNC : HGNC | ||
Ensembl : ENSG00000243480 | ||
HPRD : 00094 | ||
Vega : OTTHUMG00000011023 | ||
Protein | UniProt: P04746 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AMY2A | |
BioGPS: 279 | ||
Pathway | NCI Pathway Interaction Database: AMY2A | |
KEGG: AMY2A | ||
REACTOME: AMY2A | ||
Pathway Commons: AMY2A | ||
Context | iHOP: AMY2A | |
ligand binding site mutation search in PubMed: AMY2A | ||
UCL Cancer Institute: AMY2A | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0016052 | carbohydrate catabolic process | 10769135 |
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Ligand binding site mutations for AMY2A |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | W218 | W218C | COAD | 1 | V249 | V249G | COAD | 1 | R35 | R35Q | COAD | 1 | Q78 | V80F | HNSC | 1 | Q78 | P79A | LUAD | 1 | S18 | P19Q | LUAD | 1 | W74 | E75K | SKCM | 1 | R210 | G208R | SKCM | 1 | D212,R210 | L211I | STAD | 1 | D92 | D92N | THCA | 1 | E186 | E186D | 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 AMY2A |
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 | R210 | G208R | 0.077255398 | W218 | W218C | -1.4573596 | R35 | R35Q | -1.4226949 | V249 | V249G | -1.1983808 | D92 | D92N | -1.1390029 | Q78 | P79A | -1.1048666 | S18 | P19Q | -1.0029579 | R210 | L211I | -0.98116344 | D212 | L211I | -0.98116344 | E186 | E186D | -0.95242736 | W74 | E75K | -0.59993316 | Q78 | V80F | -0.47163581 |
(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 AMY2A from PDB |
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Differential gene expression and gene-gene network for AMY2A |
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 AMY2A |
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 AMY2A |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|investigational | DB00284 | Acarbose | Small molecule | |
Experimental | DB01922 | Maltosyl-Alpha (1,4)-D-Gluconhydroximo-1,5-Lactam | Small molecule | |
Experimental | DB02218 | N-[4-Hydroxymethyl-Cyclohexan-6-Yl-1,2,3-Triol]-4,6-Dideoxy-4-Aminoglucopyranoside | Small molecule | |
Experimental | DB02379 | Beta-D-Glucose | Small molecule | |
Experimental | DB02889 | 4-O-(4,6-Dideoxy-4-{[4,5,6-Trihydroxy-3-(Hydroxymethyl)Cyclohex-2-En-1-Yl]Amino}-Beta-D-Lyxo-Hexopyranosyl)-Alpha-D-Erythro-Hexopyranose | Small molecule | |
Experimental | DB03088 | Pyroglutamic Acid | Small molecule | |
Experimental | DB03092 | 5-Hydroxymethyl-Chonduritol | Small molecule | |
Experimental | DB03439 | 4,6-Dideoxy-4-Amino-Alpha-D-Glucose | Small molecule | |
Experimental | DB03495 | 4,6-Dideoxy-4-{[4,5,6-Trihydroxy-3-(Hydroxymethyl)Cyclohex-2-En-1-Yl]Amino}-Alpha-D-Lyxo-Hexopyranosyl-(1->4)-Alpha-D-Threo-Hexopyranosyl-(1->6)-Alpha-L-Threo-Hexopyranose | Small molecule | |
Experimental | DB03773 | 6-Deoxy-Alpha-D-Glucose | Small molecule | |
Experimental | DB03971 | Acarbose Derived Hexasaccharide | Small molecule | |
Experimental | DB04453 | 4-O-(4,6-Dideoxy-4-{[4-[(4-O-Hexopyranosylhexopyranosyl)Oxy]-5,6-Dihydroxy-3-(Hydroxymethyl)Cyclohex-2-En-1-Yl]Amino}Hexopyranosyl)Hexopyranose | Small molecule | |
Experimental | DB04618 | 4,6-DIDEOXY-4-{[4-[(4-O-HEXOPYRANOSYLHEXOPYRANOSYL)OXY]-5,6-DIHYDROXY-3-(HYDROXYMETHYL)CYCLOHEX-2-EN-1-YL]AMINO}HEXOPYRANOSYL-(1->4)HEXOPYRANOSYL-(1->4)HEXOPYRANOSE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of AMY2A 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 AMY2A |
Multiple alignments for P04746 in multiple species |
LBS | AA sequence | # species | Species |
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