mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PVALB
Gene summary
Basic gene Info.Gene symbolPVALB
Gene nameparvalbumin
SynonymsD22S749
CytomapUCSC genome browser: 22q13.1
Type of geneprotein-coding
RefGenesNM_002854.2,
Descriptionparvalbumin alpha
Modification date20141207
dbXrefs MIM : 168890
HGNC : HGNC
Ensembl : ENSG00000100362
HPRD : 01353
Vega : OTTHUMG00000150547
ProteinUniProt: P20472
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PVALB
BioGPS: 5816
PathwayNCI Pathway Interaction Database: PVALB
KEGG: PVALB
REACTOME: PVALB
Pathway Commons: PVALB
ContextiHOP: PVALB
ligand binding site mutation search in PubMed: PVALB
UCL Cancer Institute: PVALB
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PVALB

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D52D52HLUAD1
F58,S56G57VSKCM1
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

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.
LBSAAchange of nsSNVRelative stability change
D52D52H-0.87426078
S56G57V-0.28908959
F58G57V-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)
* Left PPI network was created from samples with mutations in the LBS of PVALB and the right PPI network was created from samples without mutations in the LBS of PVALB. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PVALB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0036341Schizophrenia15AlteredExpression, Biomarker
umls:C0007134Carcinoma, Renal Cell4Biomarker
umls:C0005586Bipolar Disorder4Biomarker
umls:C1510502Adenoma, Oxyphilic1Biomarker
umls:C0033975Psychotic Disorders1Biomarker
umls:C0036572Seizures1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB01942Formic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PVALB go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1rjvAD52 S56 F58
CACALCIUM(2+)1rk9AD52 S56 F58


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Conservation information for LBS of PVALB
Multiple alignments for P20472 in multiple species
LBSAA sequence# speciesSpecies
D52VFHILDKDKSG3Bos taurus, Mus musculus, Rattus norvegicus
D52VFHMLDKDKSG1Homo sapiens
D54HILDKDKSGFI3Bos taurus, Mus musculus, Rattus norvegicus
D54HMLDKDKSGFI1Homo sapiens
E60KSGFIEEDELG3Homo sapiens, Mus musculus, Rattus norvegicus
E60KSGFIEEEELG1Bos taurus
E63FIEEDELGSIL2Mus musculus, Rattus norvegicus
E63FIEEDELGFIL1Homo sapiens
E63FIEEEELGFIL1Bos taurus
F58KDKSGFIEEDE3Homo sapiens, Mus musculus, Rattus norvegicus
F58KDKSGFIEEEE1Bos taurus
I59DKSGFIEEDEL3Homo sapiens, Mus musculus, Rattus norvegicus
I59DKSGFIEEEEL1Bos taurus
S56LDKDKSGFIEE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus


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