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 EHMT2
Gene summary
Basic gene Info.Gene symbolEHMT2
Gene nameeuchromatic histone-lysine N-methyltransferase 2
SynonymsBAT8|C6orf30|G9A|GAT8|KMT1C|NG36
CytomapUCSC genome browser: 6p21.31
Type of geneprotein-coding
RefGenesNM_001289413.1,
NM_006709.4,NM_025256.6,
DescriptionG9A histone methyltransferaseH3-K9-HMTase 3HLA-B associated transcript 8ankyrin repeat-containing proteinhistone H3-K9 methyltransferase 3histone-lysine N-methyltransferase EHMT2histone-lysine N-methyltransferase, H3 lysine-9 specific 3lysine N-met
Modification date20141222
dbXrefs MIM : 604599
HGNC : HGNC
Ensembl : ENSG00000204371
HPRD : 06854
Vega : OTTHUMG00000031180
ProteinUniProt: Q96KQ7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EHMT2
BioGPS: 10919
PathwayNCI Pathway Interaction Database: EHMT2
KEGG: EHMT2
REACTOME: EHMT2
Pathway Commons: EHMT2
ContextiHOP: EHMT2
ligand binding site mutation search in PubMed: EHMT2
UCL Cancer Institute: EHMT2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0018027peptidyl-lysine dimethylation20118233


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Ligand binding site mutations for EHMT2
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C1017N1018KPRAD1
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 EHMT2
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
C1017N1018K-0.33850792
(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 EHMT2 from PDB

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Differential gene expression and gene-gene network for EHMT2
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 EHMT2 and the right PPI network was created from samples without mutations in the LBS of EHMT2. 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 EHMT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0236736Cocaine-Related Disorders1Therapeutic
umls:C0024121Lung Neoplasms1Biomarker
umls:C0027627Neoplasm Metastasis1Biomarker

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

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Pharmacological information for EHMT2
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.
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 EHMT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2o8jAC1017
ZNZINC(2+)2o8jAC1017
ZNZINC(2+)2o8jBC1017
ZNZINC(2+)2o8jBC1017
ZNZINC(2+)2o8jCC1017
ZNZINC(2+)2o8jCC1017
ZNZINC(2+)2o8jDC1017
ZNZINC(2+)2o8jDC1017
ZNZINC(2+)3k5kAC1017
ZNZINC(2+)3k5kAC1017
ZNZINC(2+)3k5kBC1017
ZNZINC(2+)3k5kBC1017
ZNZINC(2+)3rjwAC1017
ZNZINC(2+)3rjwAC1017
ZNZINC(2+)3rjwBC1017
ZNZINC(2+)3rjwBC1017
ZNZINC(2+)4nvqAC1017
ZNZINC(2+)4nvqAC1017
ZNZINC(2+)4nvqBC1017
ZNZINC(2+)4nvqBC1017


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Conservation information for LBS of EHMT2
Multiple alignments for Q96KQ7 in multiple species
LBSAA sequence# speciesSpecies


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