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mutLBSgeneDB |
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| Gene summary for CLIC2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CLIC2 |
| Gene name | chloride intracellular channel 2 | |
| Synonyms | CLIC2b|MRXS32|XAP121 | |
| Cytomap | UCSC genome browser: Xq28 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001289.5, | |
| Description | chloride intracellular channel protein 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300138 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000155962 | ||
| HPRD : 02139 | ||
| Vega : OTTHUMG00000022660 | ||
| Protein | UniProt: O15247 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CLIC2 | |
| BioGPS: 1193 | ||
| Pathway | NCI Pathway Interaction Database: CLIC2 | |
| KEGG: CLIC2 | ||
| REACTOME: CLIC2 | ||
| Pathway Commons: CLIC2 | ||
| Context | iHOP: CLIC2 | |
| ligand binding site mutation search in PubMed: CLIC2 | ||
| UCL Cancer Institute: CLIC2 | ||
| 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:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 15147738 | GO:0051099 | positive regulation of binding | 15916532 | GO:0055114 | oxidation-reduction process | 15147738 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 15147738 |
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| Ligand binding site mutations for CLIC2 |
| 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 | F37 | R35G | PRAD | 1 | F37 | L36R | UCEC | 1 | F110 | S109Y | 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 CLIC2 |
| 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 | F37 | L36R | -1.3175738 | F37 | R35G | -1.08553 | F110 | S109Y | -0.94524925 |
| (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 CLIC2 from PDB |
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| Differential gene expression and gene-gene network for CLIC2 |
| 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 CLIC2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3550913 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CLIC2 |
| 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 CLIC2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MNB | 3-CARBOXY-4-NITROBENZENETHIOL | 2per | A | F110 | GSH | GLUTATHIONATE(1-) | 2r4v | A | F37 |
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| Conservation information for LBS of CLIC2 |
| Multiple alignments for O15247 in multiple species |
| LBS | AA sequence | # species | Species | A131 | NTQKEANKNFE | 2 | Homo sapiens, Rattus norvegicus | A131 | S--KDSGDGTE | 1 | Arabidopsis thaliana | C114 | SFDVGCNLFAK | 2 | Homo sapiens, Rattus norvegicus | C114 | S--VGSKIFST | 1 | Arabidopsis thaliana | E25 | G-SDGESIGNC | 2 | Homo sapiens, Rattus norvegicus | E25 | SITTPNKLGDC | 1 | Arabidopsis thaliana | F110 | KYKESFDVGCN | 2 | Homo sapiens, Rattus norvegicus | F110 | PEKAS--VGSK | 1 | Arabidopsis thaliana | F135 | EANKNFEKSLL | 2 | Homo sapiens, Rattus norvegicus | F135 | DSGDGTEQVLL | 1 | Arabidopsis thaliana | F37 | FCQRLFMILWL | 2 | Homo sapiens, Rattus norvegicus | F37 | FCQKVLLTMEE | 1 | Arabidopsis thaliana | G113 | ESFDVGCNLFA | 2 | Homo sapiens, Rattus norvegicus | G113 | AS--VGSKIFS | 1 | Arabidopsis thaliana | H227 | REEFTHTCPED | 1 | Homo sapiens | H227 | RESFTNTRAET | 1 | Arabidopsis thaliana | H227 | REEFAHTCPED | 1 | Rattus norvegicus | I27 | SDGESIGNCPF | 2 | Homo sapiens, Rattus norvegicus | I27 | TTPNKLGDCPF | 1 | Arabidopsis thaliana | K189 | CSLLPKLNIIK | 2 | Homo sapiens, Rattus norvegicus | K189 | LSLAPKLYHMK | 1 | Arabidopsis thaliana | L186 | LADCSLLPKLN | 2 | Homo sapiens, Rattus norvegicus | L186 | AADLSLAPKLY | 1 | Arabidopsis thaliana | N134 | KEANKNFEKSL | 2 | Homo sapiens, Rattus norvegicus | N134 | KDSGDGTEQVL | 1 | Arabidopsis thaliana | S185 | TLADCSLLPKL | 2 | Homo sapiens, Rattus norvegicus | S185 | SAADLSLAPKL | 1 | Arabidopsis thaliana | S26 | -SDGESIGNCP | 2 | Homo sapiens, Rattus norvegicus | S26 | ITTPNKLGDCP | 1 | Arabidopsis thaliana | T51 | KFNVTTVDMTR | 1 | Homo sapiens | T51 | PYDMKMVDLSN | 1 | Arabidopsis thaliana | T51 | KFNVTTIDTAR | 1 | Rattus norvegicus | W41 | LFMILWLKGVK | 2 | Homo sapiens, Rattus norvegicus | W41 | VLLTMEEKNVP | 1 | Arabidopsis thaliana |
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