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mutLBSgeneDB |
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| Gene summary for CAPN2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CAPN2 |
| Gene name | calpain 2, (m/II) large subunit | |
| Synonyms | CANP2|CANPL2|CANPml|mCANP | |
| Cytomap | UCSC genome browser: 1q41-q42 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001146068.1, NM_001748.4, | |
| Description | CANP 2M-calpaincalcium-activated neutral proteinase 2calpain 2, large [catalytic] subunitcalpain 2, large subunitcalpain M-typecalpain large polypeptide L2calpain, large polypeptide L2calpain-2 catalytic subunitcalpain-2 large subunitmillimolar- | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 114230 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000162909 | ||
| HPRD : 00254 | ||
| Vega : OTTHUMG00000037376 | ||
| Protein | UniProt: P17655 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CAPN2 | |
| BioGPS: 824 | ||
| Pathway | NCI Pathway Interaction Database: CAPN2 | |
| KEGG: CAPN2 | ||
| REACTOME: CAPN2 | ||
| Pathway Commons: CAPN2 | ||
| Context | iHOP: CAPN2 | |
| ligand binding site mutation search in PubMed: CAPN2 | ||
| UCL Cancer Institute: CAPN2 | ||
| 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 |
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| Ligand binding site mutations for CAPN2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D96 | R94H | UCEC | 2 | N189 | I188M | BRCA | 1 | E320 | R318W | COAD | 1 | G91 | A92V | SKCM | 1 | G103 | A101V | STAD | 1 | E320 | R318Q | 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 CAPN2 |
| 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 | G91 | A92V | 0.17109556 | E320 | R318Q | -1.513619 | E320 | R318W | -1.2370339 | G103 | A101V | -1.1266569 | N189 | I188M | -0.83318905 | D96 | R94H | -0.65817443 |
| (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 CAPN2 from PDB |
| PDB ID | PDB title | PDB structure | 1KFU | Crystal Structure of Human m-Calpain Form II |  |
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| Differential gene expression and gene-gene network for CAPN2 |
| 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 CAPN2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023467 | Leukemia, Myeloid, Acute | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CAPN2 |
| 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 CAPN2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2nqa | A | E320 | III | Peptide ligand (ACE,LEU,LEU,AR7) | 2nqa | A | G103 | III | Peptide ligand (ACE,LEU,LEU,AR7) | 2nqa | B | G103 | CA | CALCIUM(2+) | 2nqa | A | G91 D96 | CA | CALCIUM(2+) | 2nqa | B | G91 D96 | III | Peptide ligand (ACE,LEU,LEU,AR7) | 2nqa | A | N189 | III | Peptide ligand (ACE,LEU,LEU,AR7) | 2nqa | B | N189 |
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| Conservation information for LBS of CAPN2 |
| Multiple alignments for P17655 in multiple species |
| LBS | AA sequence | # species | Species | A263 | LVKGHAYSVTG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | C105 | GALGDCWLLAA | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | D321 | TRRHEDGEFWM | 2 | Homo sapiens, Gallus gallus | D321 | TERQEDGEFWM | 2 | Mus musculus, Rattus norvegicus | D321 | TRQHEDGEFWM | 1 | Bos taurus | D96 | GATRTDICQGA | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | E175 | SAEGSEFWSAL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | E320 | LTRRHEDGEFW | 2 | Homo sapiens, Gallus gallus | E320 | LTERQEDGEFW | 2 | Mus musculus, Rattus norvegicus | E320 | LTRQHEDGEFW | 1 | Bos taurus | E323 | RQEDGEFWMSF | 2 | Mus musculus, Rattus norvegicus | E323 | RHEDGEFWMSF | 1 | Homo sapiens | E323 | RHEDGEFWMAF | 1 | Gallus gallus | E323 | QHEDGEFWMSF | 1 | Bos taurus | G103 | CQGALGDCWLL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | G190 | YAKINGCYEAL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G190 | YAKLNGSYEAL | 1 | Gallus gallus | G90 | PQFIIGGATRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G90 | PRFIAGGATRT | 1 | Gallus gallus | G90 | PQFITGGATRT | 1 | Bos taurus | G91 | QFIIGGATRTD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G91 | RFIAGGATRTD | 1 | Gallus gallus | G91 | QFITGGATRTD | 1 | Bos taurus | H262 | KLVKGHAYSVT | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | N189 | AYAKINGCYEA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N189 | AYAKLNGSYEA | 1 | Gallus gallus |
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