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mutLBSgeneDB |
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| Gene summary for PVALB |
 Gene summary |
| Basic gene Info. | Gene symbol | PVALB |
| Gene name | parvalbumin | |
| Synonyms | D22S749 | |
| Cytomap | UCSC genome browser: 22q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002854.2, | |
| Description | parvalbumin alpha | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 168890 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100362 | ||
| HPRD : 01353 | ||
| Vega : OTTHUMG00000150547 | ||
| Protein | UniProt: P20472 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PVALB | |
| BioGPS: 5816 | ||
| Pathway | NCI Pathway Interaction Database: PVALB | |
| KEGG: PVALB | ||
| REACTOME: PVALB | ||
| Pathway Commons: PVALB | ||
| Context | iHOP: PVALB | |
| ligand binding site mutation search in PubMed: PVALB | ||
| UCL Cancer Institute: PVALB | ||
| 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 |
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| Ligand binding site mutations for PVALB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D52 | D52H | LUAD | 1 | F58,S56 | G57V | SKCM | 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 PVALB |
| 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 | D52 | D52H | -0.87426078 | S56 | G57V | -0.28908959 | F58 | G57V | -0.28908959 |
| (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 PVALB from PDB |
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| Differential gene expression and gene-gene network for PVALB |
| 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 PVALB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0036341 | Schizophrenia | 15 | AlteredExpression, Biomarker |
| umls:C0007134 | Carcinoma, Renal Cell | 4 | Biomarker |
| umls:C0005586 | Bipolar Disorder | 4 | Biomarker |
| umls:C1510502 | Adenoma, Oxyphilic | 1 | Biomarker |
| umls:C0033975 | Psychotic Disorders | 1 | Biomarker |
| umls:C0036572 | Seizures | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PVALB |
| 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 |
| Experimental | DB01942 | Formic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PVALB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1rjv | A | D52 S56 F58 | CA | CALCIUM(2+) | 1rk9 | A | D52 S56 F58 |
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| Conservation information for LBS of PVALB |
| Multiple alignments for P20472 in multiple species |
| LBS | AA sequence | # species | Species | D52 | VFHILDKDKSG | 3 | Bos taurus, Mus musculus, Rattus norvegicus | D52 | VFHMLDKDKSG | 1 | Homo sapiens | D54 | HILDKDKSGFI | 3 | Bos taurus, Mus musculus, Rattus norvegicus | D54 | HMLDKDKSGFI | 1 | Homo sapiens | E60 | KSGFIEEDELG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E60 | KSGFIEEEELG | 1 | Bos taurus | E63 | FIEEDELGSIL | 2 | Mus musculus, Rattus norvegicus | E63 | FIEEDELGFIL | 1 | Homo sapiens | E63 | FIEEEELGFIL | 1 | Bos taurus | F58 | KDKSGFIEEDE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F58 | KDKSGFIEEEE | 1 | Bos taurus | I59 | DKSGFIEEDEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I59 | DKSGFIEEEEL | 1 | Bos taurus | S56 | LDKDKSGFIEE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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