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mutLBSgeneDB |
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| Gene summary for EHMT2 |
 Gene summary |
| Basic gene Info. | Gene symbol | EHMT2 |
| Gene name | euchromatic histone-lysine N-methyltransferase 2 | |
| Synonyms | BAT8|C6orf30|G9A|GAT8|KMT1C|NG36 | |
| Cytomap | UCSC genome browser: 6p21.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001289413.1, NM_006709.4,NM_025256.6, | |
| Description | G9A 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 date | 20141222 | |
| dbXrefs | MIM : 604599 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204371 | ||
| HPRD : 06854 | ||
| Vega : OTTHUMG00000031180 | ||
| Protein | UniProt: Q96KQ7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EHMT2 | |
| BioGPS: 10919 | ||
| Pathway | NCI Pathway Interaction Database: EHMT2 | |
| KEGG: EHMT2 | ||
| REACTOME: EHMT2 | ||
| Pathway Commons: EHMT2 | ||
| Context | iHOP: EHMT2 | |
| ligand binding site mutation search in PubMed: EHMT2 | ||
| UCL Cancer Institute: EHMT2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0018027 | peptidyl-lysine dimethylation | 20118233 |
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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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C1017 | N1018K | PRAD | 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | C1017 | N1018K | -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) |
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| Phenotype information for EHMT2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Therapeutic |
| umls:C0024121 | Lung Neoplasms | 1 | Biomarker |
| umls:C0027627 | Neoplasm Metastasis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of EHMT2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2o8j | A | C1017 | ZN | ZINC(2+) | 2o8j | A | C1017 | ZN | ZINC(2+) | 2o8j | B | C1017 | ZN | ZINC(2+) | 2o8j | B | C1017 | ZN | ZINC(2+) | 2o8j | C | C1017 | ZN | ZINC(2+) | 2o8j | C | C1017 | ZN | ZINC(2+) | 2o8j | D | C1017 | ZN | ZINC(2+) | 2o8j | D | C1017 | ZN | ZINC(2+) | 3k5k | A | C1017 | ZN | ZINC(2+) | 3k5k | A | C1017 | ZN | ZINC(2+) | 3k5k | B | C1017 | ZN | ZINC(2+) | 3k5k | B | C1017 | ZN | ZINC(2+) | 3rjw | A | C1017 | ZN | ZINC(2+) | 3rjw | A | C1017 | ZN | ZINC(2+) | 3rjw | B | C1017 | ZN | ZINC(2+) | 3rjw | B | C1017 | ZN | ZINC(2+) | 4nvq | A | C1017 | ZN | ZINC(2+) | 4nvq | A | C1017 | ZN | ZINC(2+) | 4nvq | B | C1017 | ZN | ZINC(2+) | 4nvq | B | C1017 |
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| Conservation information for LBS of EHMT2 |
| Multiple alignments for Q96KQ7 in multiple species |
| LBS | AA sequence | # species | Species |
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