|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for GAD2 |
 Gene summary |
| Basic gene Info. | Gene symbol | GAD2 |
| Gene name | glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) | |
| Synonyms | GAD65 | |
| Cytomap | UCSC genome browser: 10p11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000818.2, NM_001134366.1, | |
| Description | 65 kDa glutamic acid decarboxylaseGAD-65Glutamate decarboxylase-2 (pancreas)glutamate decarboxylase 2glutamate decarboxylase 65 kDa isoform | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 138275 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136750 | ||
| HPRD : 11817 | ||
| Vega : OTTHUMG00000017836 | ||
| Protein | UniProt: Q05329 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GAD2 | |
| BioGPS: 2572 | ||
| Pathway | NCI Pathway Interaction Database: GAD2 | |
| KEGG: GAD2 | ||
| REACTOME: GAD2 | ||
| Pathway Commons: GAD2 | ||
| Context | iHOP: GAD2 | |
| ligand binding site mutation search in PubMed: GAD2 | ||
| UCL Cancer Institute: GAD2 | ||
| 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 |
| Top |
| Ligand binding site mutations for GAD2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R558 | F556L | COAD | 1 | H282 | F283L | KIRC | 1 | T339 | V340L | LUAD | 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 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. |
| LBS | AAchange of nsSNV | Relative stability change | T339 | V340L | -0.79741467 | R558 | F556L | -0.17001469 | H282 | F283L | -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 |
| Top |
| 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) |
| Top |
| Top |
| Phenotype information for GAD2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0036341 | Schizophrenia | 5 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0036572 | Seizures | 3 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker |
| umls:C0011884 | Diabetic Retinopathy | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of GAD2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ABU | GAMMA-AMINOBUTYRIC ACID | 2okk | A | H282 | ABU | GAMMA-AMINOBUTYRIC ACID | 2okk | A | T339 R558 |
| Top |
| Conservation information for LBS of GAD2 |
| Multiple alignments for Q05329 in multiple species |
| LBS | AA sequence | # species | Species | H282 | TSEHSHFSLKK | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus | K396 | TWNPHKMMGVP | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus | L182 | RYFNQLSTGLD | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus | Q181 | PRYFNQLSTGL | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus | R558 | KVNFFRMVISN | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus | S183 | YFNQLSTGLDM | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus | T339 | ATAGTTVYGAF | 4 | Homo sapiens, Canis lupus familiaris, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |