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 GAD2
Gene summary
Basic gene Info.Gene symbolGAD2
Gene nameglutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
SynonymsGAD65
CytomapUCSC genome browser: 10p11.23
Type of geneprotein-coding
RefGenesNM_000818.2,
NM_001134366.1,
Description65 kDa glutamic acid decarboxylaseGAD-65Glutamate decarboxylase-2 (pancreas)glutamate decarboxylase 2glutamate decarboxylase 65 kDa isoform
Modification date20141222
dbXrefs MIM : 138275
HGNC : HGNC
Ensembl : ENSG00000136750
HPRD : 11817
Vega : OTTHUMG00000017836
ProteinUniProt: Q05329
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GAD2
BioGPS: 2572
PathwayNCI Pathway Interaction Database: GAD2
KEGG: GAD2
REACTOME: GAD2
Pathway Commons: GAD2
ContextiHOP: GAD2
ligand binding site mutation search in PubMed: GAD2
UCL Cancer Institute: GAD2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for GAD2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R558F556LCOAD1
H282F283LKIRC1
T339V340LLUAD1
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 GAD2
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.
LBSAAchange of nsSNVRelative stability change
T339V340L-0.79741467
R558F556L-0.17001469
H282F283L-0.010975866
(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 GAD2 from PDB

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Differential gene expression and gene-gene network for GAD2
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 GAD2 and the right PPI network was created from samples without mutations in the LBS of GAD2. 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 GAD2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0036341Schizophrenia5AlteredExpression, Biomarker, GeneticVariation
umls:C0036572Seizures3Biomarker
umls:C0236736Cocaine-Related Disorders1Biomarker
umls:C0011884Diabetic Retinopathy1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for GAD2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00142L-Glutamic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GAD2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ABUGAMMA-AMINOBUTYRIC ACID2okkAH282
ABUGAMMA-AMINOBUTYRIC ACID2okkAT339 R558


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Conservation information for LBS of GAD2
Multiple alignments for Q05329 in multiple species
LBSAA sequence# speciesSpecies
H282TSEHSHFSLKK4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus
K396TWNPHKMMGVP4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus
L182RYFNQLSTGLD4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus
Q181PRYFNQLSTGL4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus
R558KVNFFRMVISN4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus
S183YFNQLSTGLDM4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus
T339ATAGTTVYGAF4Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus


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