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mutLBSgeneDB |
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| Gene summary for CASP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CASP2 |
| Gene name | caspase 2, apoptosis-related cysteine peptidase | |
| Synonyms | CASP-2|ICH1|NEDD-2|NEDD2|PPP1R57 | |
| Cytomap | UCSC genome browser: 7q34-q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001224.4, NM_032982.3,NM_032983.3, | |
| Description | caspase-2neural precursor cell expressed developmentally down-regulated protein 2protease ICH-1protein phosphatase 1, regulatory subunit 57 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600639 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000106144 | ||
| HPRD : 02800 | ||
| Vega : OTTHUMG00000023641 | ||
| Protein | UniProt: P42575 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CASP2 | |
| BioGPS: 835 | ||
| Pathway | NCI Pathway Interaction Database: CASP2 | |
| KEGG: CASP2 | ||
| REACTOME: CASP2 | ||
| Pathway Commons: CASP2 | ||
| Context | iHOP: CASP2 | |
| ligand binding site mutation search in PubMed: CASP2 | ||
| UCL Cancer Institute: CASP2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0016485 | protein processing | 9044836 | GO:0043065 | positive regulation of apoptotic process | 10980123 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M377 | M377V | COAD | 1 | W385 | G383V | LUAD | 1 | R219 | R219C | SKCM | 1 | G419 | R417W | 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 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 |
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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 | R219 | R219C | -1.08582 | M377 | M377V | -1.0682277 | G419 | R417W | -0.91129697 | W385 | G383V | -0.61930864 |
| (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 |
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| 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) |
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| Phenotype information for CASP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007134 | Carcinoma, Renal Cell | 1 | Biomarker |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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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 CASP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ACE,ALA,ASP,VAL,ALA,ASP) | 3r5j | B | M377 W385 G419 | III | Peptide ligand (ACE,ALA,ASP,VAL,ALA,ASP) | 3r5j | D | M377 W385 G419 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6g | B | M377 W385 G419 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6g | D | M377 W385 G419 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6l | B | M377 W385 G419 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6l | D | M377 W385 G419 | III | Peptide ligand (ACE,ASP,VAL,ALA,ASP) | 3r7b | D | M377 W385 G419 | III | Peptide ligand (ACE,ASP,VAL,ALA,ASP) | 3r7n | B | M377 W385 G419 | III | Peptide ligand (ACE,ASP,VAL,ALA,ASP) | 3r7n | D | M377 W385 G419 | III | Peptide ligand (ACE,ALA,ASP,VAL,ALA,ASP) | 3r5j | A | R219 | III | Peptide ligand (ACE,ALA,ASP,VAL,ALA,ASP) | 3r5j | C | R219 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6g | A | R219 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6g | C | R219 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6l | A | R219 | III | Peptide ligand (ACE,VAL,ASP,VAL,ALA,ASP) | 3r6l | C | R219 | III | Peptide ligand (ACE,ASP,VAL,ALA,ASP) | 3r7b | C | R219 | III | Peptide ligand (ACE,ASP,VAL,ALA,ASP) | 3r7n | A | R219 | III | Peptide ligand (ACE,ASP,VAL,ALA,ASP) | 3r7n | C | R219 |
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| Conservation information for LBS of CASP2 |
| Multiple alignments for P42575 in multiple species |
| LBS | AA sequence | # species | Species | A375 | CLKGTAAMRNT | 2 | Homo sapiens, Gallus gallus | A375 | CLKGNAAMRNT | 2 | Mus musculus, Rattus norvegicus | A376 | LKGTAAMRNTK | 2 | Homo sapiens, Gallus gallus | A376 | LKGNAAMRNTK | 2 | Mus musculus, Rattus norvegicus | A421 | EREGYAPGTEF | 2 | Mus musculus, Rattus norvegicus | A421 | DREGYAPGTEF | 1 | Homo sapiens | A421 | QREGYAPGTEF | 1 | Gallus gallus | C320 | FFIQACRGDET | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | D323 | QACRGDETDRG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F426 | APGTEFHRCKE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G278 | ALLSHGVEGGI | 2 | Mus musculus, Rattus norvegicus | G278 | ALLSHGVEGAI | 1 | Homo sapiens | G278 | ALLSHGVEGGV | 1 | Gallus gallus | G419 | IKEREGYAPGT | 2 | Mus musculus, Rattus norvegicus | G419 | IKDREGYAPGT | 1 | Homo sapiens | G419 | IKQREGYAPGT | 1 | Gallus gallus | H277 | VALLSHGVEGG | 3 | Gallus gallus, Mus musculus, Rattus norvegicus | H277 | VALLSHGVEGA | 1 | Homo sapiens | M377 | KGTAAMRNTKR | 2 | Homo sapiens, Gallus gallus | M377 | KGNAAMRNTKR | 2 | Mus musculus, Rattus norvegicus | N379 | TAAMRNTKRGS | 2 | Homo sapiens, Gallus gallus | N379 | NAAMRNTKRGS | 2 | Mus musculus, Rattus norvegicus | Q318 | KMFFIQACRGD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R219 | KDLEFRSGGDV | 2 | Mus musculus, Rattus norvegicus | R219 | KELEFRSGGDV | 1 | Homo sapiens | R219 | KDLEYRSGGDV | 1 | Gallus gallus | R378 | GTAAMRNTKRG | 2 | Homo sapiens, Gallus gallus | R378 | GNAAMRNTKRG | 2 | Mus musculus, Rattus norvegicus | T325 | CRGDETDRGVD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | T380 | AAMRNTKRGSW | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | W385 | TKRGSWYIEAL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y420 | KEREGYAPGTE | 2 | Mus musculus, Rattus norvegicus | Y420 | KDREGYAPGTE | 1 | Homo sapiens | Y420 | KQREGYAPGTE | 1 | Gallus gallus |
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