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mutLBSgeneDB |
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| Gene summary for GABBR2 |
 Gene summary |
| Basic gene Info. | Gene symbol | GABBR2 |
| Gene name | gamma-aminobutyric acid (GABA) B receptor, 2 | |
| Synonyms | GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099 | |
| Cytomap | UCSC genome browser: 9q22.1-q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005458.7, | |
| Description | G protein-coupled receptor 51G-protein coupled receptor 51GABA-B receptor 2GABA-B receptor, R2 subunitGABA-B-R2GABA-BR2gamma-aminobutyric acid B receptor 2gamma-aminobutyric acid type B receptor subunit 2gb2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607340 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136928 | ||
| HPRD : 09552 | ||
| Vega : OTTHUMG00000020345 | ||
| Protein | UniProt: O75899 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GABBR2 | |
| BioGPS: 9568 | ||
| Pathway | NCI Pathway Interaction Database: GABBR2 | |
| KEGG: GABBR2 | ||
| REACTOME: GABBR2 | ||
| Pathway Commons: GABBR2 | ||
| Context | iHOP: GABBR2 | |
| ligand binding site mutation search in PubMed: GABBR2 | ||
| UCL Cancer Institute: GABBR2 | ||
| 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 | GO:0007214 | gamma-aminobutyric acid signaling pathway | 9872316 |
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| Ligand binding site mutations for GABBR2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N407 | F409L | HNSC | 1 | E405 | E405D | 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 GABBR2 |
| 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 | N407 | F409L | -0.8673963 | E405 | E405D | -0.82083541 |
| (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 GABBR2 from PDB |
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| Differential gene expression and gene-gene network for GABBR2 |
| 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 GABBR2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004352 | Autistic Disorder | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GABBR2 |
| 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 | DB00181 | Baclofen | Small molecule |  |
| Investigational | DB05010 | SGS742 | Small molecule |  |
| Investigational | DB08891 | Arbaclofen | Small molecule |  |
| Investigational | DB08892 | Arbaclofen Placarbil | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GABBR2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FUC | ALPHA-L-FUCOPYRANOSE | 4mqf | B | E405 N407 | FUC | ALPHA-L-FUCOPYRANOSE | 4ms1 | B | E405 N407 | FUC | ALPHA-L-FUCOPYRANOSE | 4mqe | B | N407 | FUC | ALPHA-L-FUCOPYRANOSE | 4mr7 | B | N407 | FUC | ALPHA-L-FUCOPYRANOSE | 4mr8 | B | N407 | FUC | ALPHA-L-FUCOPYRANOSE | 4mr9 | B | N407 |
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| Conservation information for LBS of GABBR2 |
| Multiple alignments for O75899 in multiple species |
| LBS | AA sequence | # species | Species | E405 | LNAMNETNFFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N407 | AMNETNFFGVT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T406 | NAMNETNFFGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V416 | VTGQVVFRNGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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