mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

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)

* Left PPI network was created from samples with mutations in the LBS of AMY2A and the right PPI network was created from samples without mutations in the LBS of AMY2A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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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