mutLBSgeneDB |
Gene summary for CLIC2 |
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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. |
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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 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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Differential gene expression and gene-gene network for CLIC2 |
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Phenotype information for CLIC2 |
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Disease ID | Disease name | # PubMed | Association type |
umls:C3550913 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 | 1 | GeneticVariation |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CLIC2 |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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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 |
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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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