mutLBSgeneDB |
Gene summary for PVALB |
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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. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for PVALB |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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Differential gene expression and gene-gene network for PVALB |
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Phenotype information for PVALB |
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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 |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PVALB |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB01942 | Formic Acid | Small molecule | ![]() |
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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 |
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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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