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mutLBSgeneDB |
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| Gene summary for RAB2A |
 Gene summary |
| Basic gene Info. | Gene symbol | RAB2A |
| Gene name | RAB2A, member RAS oncogene family | |
| Synonyms | LHX|RAB2 | |
| Cytomap | UCSC genome browser: 8q12.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001242644.1, NM_002865.2, | |
| Description | RAB2, member RAS oncogene familyras-related protein Rab-2Asmall GTP binding protein RAB2A | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 179509 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000104388 | ||
| HPRD : 01539 | ||
| Vega : OTTHUMG00000134298 | ||
| Protein | UniProt: P61019 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RAB2A | |
| BioGPS: 5862 | ||
| Pathway | NCI Pathway Interaction Database: RAB2A | |
| KEGG: RAB2A | ||
| REACTOME: RAB2A | ||
| Pathway Commons: RAB2A | ||
| Context | iHOP: RAB2A | |
| ligand binding site mutation search in PubMed: RAB2A | ||
| UCL Cancer Institute: RAB2A | ||
| 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:0006184 | GTP catabolic process | 17562788 |
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| Ligand binding site mutations for RAB2A |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L37 | I39M | UCEC | 1 | K151 | T152S | 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 RAB2A |
| 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 | L37 | I39M | -0.74920935 | K151 | T152S | -0.3592414 |
| (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 RAB2A from PDB |
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| Differential gene expression and gene-gene network for RAB2A |
| 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 RAB2A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RAB2A |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RAB2A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 1z0a | A | K151 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1z0a | B | K151 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1z0a | C | K151 | MG | MAGNESIUM(2+) | 1z0a | C | L37 |
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| Conservation information for LBS of RAB2A |
| Multiple alignments for P61019 in multiple species |
| LBS | AA sequence | # species | Species | A150 | FMETSAKTASN | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | A150 | FMEASAKTAQN | 1 | Arabidopsis thaliana | A150 | FLEASARTAQN | 1 | Arabidopsis thaliana | A63 | QIWDTAGQESF | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | C21 | GVGKSCLLLQF | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | D122 | IGNKSDLESRR | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | D122 | IGNKCDLAHRR | 1 | Arabidopsis thaliana | D122 | IGNKCDLAHKR | 1 | Arabidopsis thaliana | D61 | KLQIWDTAGQE | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | F31 | FTDKRFQPVHD | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | G16 | IIGDTGVGKSC | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | G18 | GDTGVGKSCLL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | K120 | MLIGNKSDLES | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | K120 | MLIGNKCDLAH | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K151 | METSAKTASNV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | K151 | MEASAKTAQNV | 1 | Arabidopsis thaliana | K151 | LEASARTAQNV | 1 | Arabidopsis thaliana | K19 | DTGVGKSCLLL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | L123 | GNKSDLESRRE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | L123 | GNKCDLAHRRA | 1 | Arabidopsis thaliana | L123 | GNKCDLAHKRA | 1 | Arabidopsis thaliana | L37 | QPVHDLTIGVE | 6 | Homo sapiens, Mus musculus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | L37 | QPVHDLTMGVE | 1 | Rattus norvegicus | N119 | IMLIGNKSDLE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | N119 | IMLIGNKCDLA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P33 | DKRFQPVHDLT | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | S149 | IFMETSAKTAS | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus | S149 | IFMEASAKTAQ | 1 | Arabidopsis thaliana | S149 | LFLEASARTAQ | 1 | Arabidopsis thaliana | S20 | TGVGKSCLLLQ | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana | V17 | IGDTGVGKSCL | 7 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Gallus gallus, Arabidopsis thaliana, Arabidopsis thaliana |
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