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 CASP2
Gene summary
Basic gene Info.Gene symbolCASP2
Gene namecaspase 2, apoptosis-related cysteine peptidase
CytomapUCSC genome browser: 7q34-q35
Type of geneprotein-coding
Descriptioncaspase-2neural precursor cell expressed developmentally down-regulated protein 2protease ICH-1protein phosphatase 1, regulatory subunit 57
Modification date20141207
dbXrefs MIM : 600639
Ensembl : ENSG00000106144
HPRD : 02800
Vega : OTTHUMG00000023641
ProteinUniProt: P42575
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CASP2
BioGPS: 835
PathwayNCI Pathway Interaction Database: CASP2
Pathway Commons: CASP2
ContextiHOP: CASP2
ligand binding site mutation search in PubMed: CASP2
UCL Cancer Institute: CASP2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0016485protein processing9044836
GO:0043065positive regulation of apoptotic process10980123

Ligand binding site mutations for CASP2
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 CASP2
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 CASP2 from PDB

Differential gene expression and gene-gene network for CASP2
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 CASP2 and the right PPI network was created from samples without mutations in the LBS of CASP2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CASP2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007134Carcinoma, Renal Cell1Biomarker
umls:C3714756Intellectual Disability1Biomarker

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

Pharmacological information for CASP2
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.

Gene-centered drug-gene interaction network
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 CASP2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ACE,ALA,ASP,VAL,ALA,ASP)3r5jBM377 W385 G419
IIIPeptide ligand (ACE,ALA,ASP,VAL,ALA,ASP)3r5jDM377 W385 G419
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6gBM377 W385 G419
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6gDM377 W385 G419
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6lBM377 W385 G419
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6lDM377 W385 G419
IIIPeptide ligand (ACE,ASP,VAL,ALA,ASP)3r7bDM377 W385 G419
IIIPeptide ligand (ACE,ASP,VAL,ALA,ASP)3r7nBM377 W385 G419
IIIPeptide ligand (ACE,ASP,VAL,ALA,ASP)3r7nDM377 W385 G419
IIIPeptide ligand (ACE,ALA,ASP,VAL,ALA,ASP)3r5jAR219
IIIPeptide ligand (ACE,ALA,ASP,VAL,ALA,ASP)3r5jCR219
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6gAR219
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6gCR219
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6lAR219
IIIPeptide ligand (ACE,VAL,ASP,VAL,ALA,ASP)3r6lCR219
IIIPeptide ligand (ACE,ASP,VAL,ALA,ASP)3r7bCR219
IIIPeptide ligand (ACE,ASP,VAL,ALA,ASP)3r7nAR219
IIIPeptide ligand (ACE,ASP,VAL,ALA,ASP)3r7nCR219

Conservation information for LBS of CASP2
Multiple alignments for P42575 in multiple species
LBSAA sequence# speciesSpecies
A375CLKGTAAMRNT2Homo sapiens, Gallus gallus
A375CLKGNAAMRNT2Mus musculus, Rattus norvegicus
A376LKGTAAMRNTK2Homo sapiens, Gallus gallus
A376LKGNAAMRNTK2Mus musculus, Rattus norvegicus
A421EREGYAPGTEF2Mus musculus, Rattus norvegicus
A421DREGYAPGTEF1Homo sapiens
A421QREGYAPGTEF1Gallus gallus
C320FFIQACRGDET4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D323QACRGDETDRG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
F426APGTEFHRCKE4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G278ALLSHGVEGGI2Mus musculus, Rattus norvegicus
G278ALLSHGVEGAI1Homo sapiens
G278ALLSHGVEGGV1Gallus gallus
G419IKEREGYAPGT2Mus musculus, Rattus norvegicus
G419IKDREGYAPGT1Homo sapiens
G419IKQREGYAPGT1Gallus gallus
H277VALLSHGVEGG3Gallus gallus, Mus musculus, Rattus norvegicus
H277VALLSHGVEGA1Homo sapiens
M377KGTAAMRNTKR2Homo sapiens, Gallus gallus
M377KGNAAMRNTKR2Mus musculus, Rattus norvegicus
N379TAAMRNTKRGS2Homo sapiens, Gallus gallus
N379NAAMRNTKRGS2Mus musculus, Rattus norvegicus
Q318KMFFIQACRGD4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R219KDLEFRSGGDV2Mus musculus, Rattus norvegicus
R219KELEFRSGGDV1Homo sapiens
R219KDLEYRSGGDV1Gallus gallus
R378GTAAMRNTKRG2Homo sapiens, Gallus gallus
R378GNAAMRNTKRG2Mus musculus, Rattus norvegicus
T325CRGDETDRGVD4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T380AAMRNTKRGSW4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
W385TKRGSWYIEAL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y420KEREGYAPGTE2Mus musculus, Rattus norvegicus
Y420KDREGYAPGTE1Homo sapiens
Y420KQREGYAPGTE1Gallus gallus

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