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mutLBSgeneDB |
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| Gene summary for SUV420H2 |
 Gene summary |
| Basic gene Info. | Gene symbol | SUV420H2 |
| Gene name | suppressor of variegation 4-20 homolog 2 (Drosophila) | |
| Synonyms | KMT5C | |
| Cytomap | UCSC genome browser: 19q13.42 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032701.3, | |
| Description | histone-lysine N-methyltransferase SUV420H2lysine N-methyltransferase 5Csu(var)4-20 homolog 2suv4-20h2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613198 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000133247 | ||
| HPRD : 15454 | ||
| Vega : OTTHUMG00000150483 | ||
| Protein | UniProt: Q86Y97 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SUV420H2 | |
| BioGPS: 84787 | ||
| Pathway | NCI Pathway Interaction Database: SUV420H2 | |
| KEGG: SUV420H2 | ||
| REACTOME: SUV420H2 | ||
| Pathway Commons: SUV420H2 | ||
| Context | iHOP: SUV420H2 | |
| ligand binding site mutation search in PubMed: SUV420H2 | ||
| UCL Cancer Institute: SUV420H2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for SUV420H2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y217 | E219K | HNSC | 1 | G120 | N119S | UCEC | 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 SUV420H2 |
| 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 | G120 | N119S | 0.13097388 | Y217 | E219K | -0.91650734 |
| (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 SUV420H2 from PDB |
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| Differential gene expression and gene-gene network for SUV420H2 |
| 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 SUV420H2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SUV420H2 |
| 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 SUV420H2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAM | S-ADENOSYL-L-METHIONINE | 3rq4 | A | G120 Y217 |
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| Conservation information for LBS of SUV420H2 |
| Multiple alignments for Q86Y97 in multiple species |
| LBS | AA sequence | # species | Species | A121 | METNGAKIVST | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A179 | WLGPAAFINHD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C185 | FINHDCKPNCK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C229 | EKNEHCECYTC | 2 | Mus musculus, Rattus norvegicus | C229 | EKNEHCECHTC | 1 | Homo sapiens | C231 | NEHCECYTCER | 2 | Mus musculus, Rattus norvegicus | C231 | NEHCECHTCER | 1 | Homo sapiens | C234 | CECYTCERKGE | 2 | Mus musculus, Rattus norvegicus | C234 | CECHTCERKGE | 1 | Homo sapiens | E117 | TRYSMETNGAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E230 | KNEHCECYTCE | 2 | Mus musculus, Rattus norvegicus | E230 | KNEHCECHTCE | 1 | Homo sapiens | F160 | AGENDFSIMYS | 2 | Homo sapiens, Mus musculus | F160 | AGENDFSVMYS | 1 | Rattus norvegicus | F180 | LGPAAFINHDC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F222 | YGEGFFGEKNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G120 | SMETNGAKIVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H183 | AAFINHDCKPN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H32 | LGFRTHKMNVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I181 | GPAAFINHDCK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M116 | CTRYSMETNGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N182 | PAAFINHDCKP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y114 | LPCTRYSMETN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y217 | EVTCFYGEGFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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