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 NSMCE2
Gene summary
Basic gene Info.Gene symbolNSMCE2
Gene namenon-SMC element 2, MMS21 homolog (S. cerevisiae)
CytomapUCSC genome browser: 8q24.13
Type of geneprotein-coding
DescriptionE3 SUMO-protein ligase NSE2MMS21 homologhMMS21methyl methanesulfonate sensitivity gene 21non-SMC element 2 homolognon-structural maintenance of chromosomes element 2 homologzinc finger, MIZ-type containing 7
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000156831
HPRD : 08131
Vega : OTTHUMG00000164993
ProteinUniProt: Q96MF7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NSMCE2
BioGPS: 286053
PathwayNCI Pathway Interaction Database: NSMCE2
Pathway Commons: NSMCE2
ContextiHOP: NSMCE2
ligand binding site mutation search in PubMed: NSMCE2
UCL Cancer Institute: NSMCE2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for NSMCE2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for NSMCE2
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
(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 NSMCE2 from PDB

Differential gene expression and gene-gene network for NSMCE2
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 NSMCE2 and the right PPI network was created from samples without mutations in the LBS of NSMCE2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NSMCE2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for NSMCE2
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 NSMCE2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NSMCE2
Multiple alignments for Q96MF7 in multiple species
LBSAA sequence# speciesSpecies
C185VKNKVCGHTYE2Homo sapiens, Bos taurus
C185VKNKMCGHTYE2Mus musculus, Rattus norvegicus
C210KKKACCPKIGC3Bos taurus, Mus musculus, Rattus norvegicus
C210KKKAYCPQIGC1Homo sapiens
C215CPKIGCSHTDM2Mus musculus, Rattus norvegicus
C215CPQIGCSHTDI1Homo sapiens
C215CPKIGCSHVDM1Bos taurus
H187NKMCGHTYEEE2Mus musculus, Rattus norvegicus
H187NKVCGHTYEED1Homo sapiens
H187NKVCGHTYEEE1Bos taurus

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