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mutLBSgeneDB |
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| Gene summary for CHP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CHP2 |
| Gene name | calcineurin-like EF-hand protein 2 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 16p12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_022097.3, | |
| Description | calcineurin B homologous protein 2calcineurin-like EF hand protein 2hepatocellular carcinoma antigen gene 520hepatocellular carcinoma-associated antigen 520 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000166869 | ||
| HPRD : 14259 | ||
| Vega : OTTHUMG00000131611 | ||
| Protein | UniProt: O43745 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHP2 | |
| BioGPS: 63928 | ||
| Pathway | NCI Pathway Interaction Database: CHP2 | |
| KEGG: CHP2 | ||
| REACTOME: CHP2 | ||
| Pathway Commons: CHP2 | ||
| Context | iHOP: CHP2 | |
| ligand binding site mutation search in PubMed: CHP2 | ||
| UCL Cancer Institute: CHP2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0008284 | positive regulation of cell proliferation | 18815128 | GO:0010922 | positive regulation of phosphatase activity | 18815128 | GO:0042307 | positive regulation of protein import into nucleus | 18815128 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 18815128 | GO:0070886 | positive regulation of calcineurin-NFAT signaling cascade | 18815128 | GO:0071277 | cellular response to calcium ion | 18815128 |
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| Ligand binding site mutations for CHP2 |
| 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 | F177 | V175M | BRCA | 1 | R159 | R159C | COAD | 1 | T160 | T160M | COAD | 1 | R159 | R159C | GBM | 1 | K189 | K189E | HNSC | 1 | F90 | H89Y | SKCM | 1 | A164 | D165N | SKCM | 1 | V139 | V139A | SKCM | 1 | L140 | R141H | STAD | 1 | F90 | R91C | 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 CHP2 |
| 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 | L140 | R141H | -1.4894289 | F177 | V175M | -1.1582203 | F90 | R91C | -1.0431538 | K189 | K189E | -0.89703611 | V139 | V139A | -0.89077194 | F90 | H89Y | -0.71784783 | T160 | T160M | -0.59896449 | A164 | D165N | -0.59827417 | R159 | R159C | -0.43271528 |
| (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 CHP2 from PDB |
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| Differential gene expression and gene-gene network for CHP2 |
| 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 CHP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CHP2 |
| 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 CHP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ARG,SER,ILE,ASN,GLU,GLU,ILE,HIS,THR,GLN,PHE,LEU,ASP,HIS,LEU,LEU,THR,GLY,ILE,GLU,ASP,ILE,CYS,GLY,HIS) | 2bec | A | F90 V139 L140 R159 T160 A164 F177 K189 |
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| Conservation information for LBS of CHP2 |
| Multiple alignments for O43745 in multiple species |
| LBS | AA sequence | # species | Species | A119 | NKLRFAFQLYD | 2 | Mus musculus, Rattus norvegicus | A119 | NKLHYAFQLYD | 1 | Homo sapiens | A164 | RTVQEADEDGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A56 | LQQIGALAVNP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E163 | DRTVQEADEDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F177 | VSFVEFTKSLE | 1 | Homo sapiens | F177 | VSFLEFTKSLE | 1 | Mus musculus | F177 | VSFLEFAKSLE | 1 | Rattus norvegicus | F70 | RIIDSFFPNGS | 2 | Mus musculus, Rattus norvegicus | F70 | RIIESFFPDGS | 1 | Homo sapiens | F83 | VDFPGFVRVLA | 1 | Homo sapiens | F83 | LYFAGFARVLA | 1 | Mus musculus | F83 | VYFAGFARVLA | 1 | Rattus norvegicus | F90 | RVLAYFRPIDE | 2 | Mus musculus, Rattus norvegicus | F90 | RVLAHFRPVED | 1 | Homo sapiens | I192 | EQKMSIRILK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I194 | KMSIRILK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I54 | LDLQQIGALAV | 2 | Mus musculus, Rattus norvegicus | I54 | MDLQQIGALAV | 1 | Homo sapiens | I66 | PLGDRIIDSFF | 2 | Mus musculus, Rattus norvegicus | I66 | PLGDRIIESFF | 1 | Homo sapiens | K183 | TKSLEKMDVEQ | 1 | Homo sapiens | K183 | TKSLEKMNIEQ | 1 | Mus musculus | K183 | AKSLEKMNIEQ | 1 | Rattus norvegicus | K189 | MNIEQKMSIRI | 2 | Mus musculus, Rattus norvegicus | K189 | MDVEQKMSIRI | 1 | Homo sapiens | L122 | RFAFQLYDLDR | 2 | Mus musculus, Rattus norvegicus | L122 | HYAFQLYDLDR | 1 | Homo sapiens | L140 | EMLQVLRLMVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L181 | EFTKSLEKMDV | 1 | Homo sapiens | L181 | EFTKSLEKMNI | 1 | Mus musculus | L181 | EFAKSLEKMNI | 1 | Rattus norvegicus | L57 | QQIGALAVNPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L62 | LAVNPLGDRII | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L87 | GFARVLAYFRP | 2 | Mus musculus, Rattus norvegicus | L87 | GFVRVLAHFRP | 1 | Homo sapiens | M136 | ISRNEMLQVLR | 2 | Mus musculus, Rattus norvegicus | M136 | ISRHEMLQVLR | 1 | Homo sapiens | M143 | QVLRLMVGVQV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M184 | KSLEKMNIEQK | 2 | Mus musculus, Rattus norvegicus | M184 | KSLEKMDVEQK | 1 | Homo sapiens | M190 | NIEQKMSIRIL | 2 | Mus musculus, Rattus norvegicus | M190 | DVEQKMSIRIL | 1 | Homo sapiens | N60 | GALAVNPLGDR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P61 | ALAVNPLGDRI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R159 | ESITDRTVQEA | 2 | Mus musculus, Rattus norvegicus | R159 | ENIADRTVQEA | 1 | Homo sapiens | R193 | QKMSIRILK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R30 | QASLLRLYHRF | 2 | Mus musculus, Rattus norvegicus | R30 | QASLLRLHHRF | 1 | Homo sapiens | R34 | LRLYHRFQALD | 2 | Mus musculus, Rattus norvegicus | R34 | LRLHHRFRALD | 1 | Homo sapiens | S191 | IEQKMSIRILK | 2 | Mus musculus, Rattus norvegicus | S191 | VEQKMSIRILK | 1 | Homo sapiens | T160 | SITDRTVQEAD | 2 | Mus musculus, Rattus norvegicus | T160 | NIADRTVQEAD | 1 | Homo sapiens | V139 | NEMLQVLRLMV | 2 | Mus musculus, Rattus norvegicus | V139 | HEMLQVLRLMV | 1 | Homo sapiens | Y118 | MNKLRFAFQLY | 2 | Mus musculus, Rattus norvegicus | Y118 | RNKLHYAFQLY | 1 | Homo sapiens | Y123 | FAFQLYDLDRD | 2 | Mus musculus, Rattus norvegicus | Y123 | YAFQLYDLDRD | 1 | Homo sapiens |
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