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 TXNDC5
Gene summary
Basic gene Info.Gene symbolTXNDC5
Gene namethioredoxin domain containing 5 (endoplasmic reticulum)
SynonymsENDOPDI|ERP46|HCC-2|PDIA15|STRF8|UNQ364
CytomapUCSC genome browser: 6p24.3
Type of geneprotein-coding
RefGenesNM_001145549.2,
NM_030810.3,NM_022085.3,
DescriptionER protein 46endoplasmic reticulum protein ERp46endoplasmic reticulum resident protein 46endothelial protein disulphide isomeraseprotein disulfide isomerase family A, member 15thioredoxin domain-containing protein 5thioredoxin related proteinthiore
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000239264
Ensembl : ENSG00000259040
HPRD : 18249
Vega : OTTHUMG00000014216
ProteinUniProt: Q8NBS9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TXNDC5
BioGPS: 81567
PathwayNCI Pathway Interaction Database: TXNDC5
KEGG: TXNDC5
REACTOME: TXNDC5
Pathway Commons: TXNDC5
ContextiHOP: TXNDC5
ligand binding site mutation search in PubMed: TXNDC5
UCL Cancer Institute: TXNDC5
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 TXNDC5

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K280K278NLUAD1
Y262R260CUCEC1
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 TXNDC5
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
K280K278N-0.67429552
Y262R260C-0.30639992
(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 TXNDC5 from PDB

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Differential gene expression and gene-gene network for TXNDC5
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 TXNDC5 and the right PPI network was created from samples without mutations in the LBS of TXNDC5. 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 TXNDC5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0003873Arthritis, Rheumatoid2Biomarker
umls:C0993582Arthritis, Experimental1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for TXNDC5
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TXNDC5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLY,GLU,VAL,CYS,PRO,ALA)3wgxBY262
IIIPeptide ligand (HIS,GLY,GLU,VAL,CYS,PRO,ALA)3wgxAY262 K280


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Conservation information for LBS of TXNDC5
Multiple alignments for Q8NBS9 in multiple species
LBSAA sequence# speciesSpecies


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