mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CLIC2
Gene summary
Basic gene Info.Gene symbolCLIC2
Gene namechloride intracellular channel 2
CytomapUCSC genome browser: Xq28
Type of geneprotein-coding
Descriptionchloride intracellular channel protein 2
Modification date20141207
dbXrefs MIM : 300138
Ensembl : ENSG00000155962
HPRD : 02139
Vega : OTTHUMG00000022660
ProteinUniProt: O15247
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CLIC2
BioGPS: 1193
PathwayNCI Pathway Interaction Database: CLIC2
Pathway Commons: CLIC2
ContextiHOP: CLIC2
ligand binding site mutation search in PubMed: CLIC2
UCL Cancer Institute: CLIC2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0010880regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum15147738
GO:0051099positive regulation of binding15916532
GO:0055114oxidation-reduction process15147738
GO:0060315negative regulation of ryanodine-sensitive calcium-release channel activity15147738

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of CLIC2 and the right PPI network was created from samples without mutations in the LBS of CLIC2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CLIC2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3550913MENTAL RETARDATION, X-LINKED, SYNDROMIC 321GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CLIC2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CLIC2
Multiple alignments for O15247 in multiple species
LBSAA sequence# speciesSpecies
A131NTQKEANKNFE2Homo sapiens, Rattus norvegicus
A131S--KDSGDGTE1Arabidopsis thaliana
C114SFDVGCNLFAK2Homo sapiens, Rattus norvegicus
C114S--VGSKIFST1Arabidopsis thaliana
E25G-SDGESIGNC2Homo sapiens, Rattus norvegicus
E25SITTPNKLGDC1Arabidopsis thaliana
F110KYKESFDVGCN2Homo sapiens, Rattus norvegicus
F110PEKAS--VGSK1Arabidopsis thaliana
F135EANKNFEKSLL2Homo sapiens, Rattus norvegicus
F135DSGDGTEQVLL1Arabidopsis thaliana
F37FCQRLFMILWL2Homo sapiens, Rattus norvegicus
F37FCQKVLLTMEE1Arabidopsis thaliana
G113ESFDVGCNLFA2Homo sapiens, Rattus norvegicus
G113AS--VGSKIFS1Arabidopsis thaliana
H227REEFTHTCPED1Homo sapiens
H227RESFTNTRAET1Arabidopsis thaliana
H227REEFAHTCPED1Rattus norvegicus
I27SDGESIGNCPF2Homo sapiens, Rattus norvegicus
I27TTPNKLGDCPF1Arabidopsis thaliana
K189CSLLPKLNIIK2Homo sapiens, Rattus norvegicus
K189LSLAPKLYHMK1Arabidopsis thaliana
L186LADCSLLPKLN2Homo sapiens, Rattus norvegicus
L186AADLSLAPKLY1Arabidopsis thaliana
N134KEANKNFEKSL2Homo sapiens, Rattus norvegicus
N134KDSGDGTEQVL1Arabidopsis thaliana
S185TLADCSLLPKL2Homo sapiens, Rattus norvegicus
S185SAADLSLAPKL1Arabidopsis thaliana
S26-SDGESIGNCP2Homo sapiens, Rattus norvegicus
S26ITTPNKLGDCP1Arabidopsis thaliana
T51KFNVTTVDMTR1Homo sapiens
T51PYDMKMVDLSN1Arabidopsis thaliana
T51KFNVTTIDTAR1Rattus norvegicus
W41LFMILWLKGVK2Homo sapiens, Rattus norvegicus
W41VLLTMEEKNVP1Arabidopsis thaliana

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