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mutLBSgeneDB |
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| Gene summary for NSMCE2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NSMCE2 |
| Gene name | non-SMC element 2, MMS21 homolog (S. cerevisiae) | |
| Synonyms | C8orf36|MMS21|NSE2|ZMIZ7 | |
| Cytomap | UCSC genome browser: 8q24.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_173685.2, | |
| Description | E3 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 date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000156831 | ||
| HPRD : 08131 | ||
| Vega : OTTHUMG00000164993 | ||
| Protein | UniProt: Q96MF7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NSMCE2 | |
| BioGPS: 286053 | ||
| Pathway | NCI Pathway Interaction Database: NSMCE2 | |
| KEGG: NSMCE2 | ||
| REACTOME: NSMCE2 | ||
| Pathway Commons: NSMCE2 | ||
| Context | iHOP: NSMCE2 | |
| ligand binding site mutation search in PubMed: NSMCE2 | ||
| UCL Cancer Institute: NSMCE2 | ||
| 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 NSMCE2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H187 | T188S | OV | 1 | C185,H187 | G186C | SKCM | 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 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 |
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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 | H187 | T188S | -0.78132545 | H187 | G186C | -0.68852798 | C185 | G186C | -0.68852798 |
| (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 |
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| 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) |
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| Phenotype information for NSMCE2 |
| 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 NSMCE2 |
| 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 NSMCE2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of NSMCE2 |
| Multiple alignments for Q96MF7 in multiple species |
| LBS | AA sequence | # species | Species | C185 | VKNKVCGHTYE | 2 | Homo sapiens, Bos taurus | C185 | VKNKMCGHTYE | 2 | Mus musculus, Rattus norvegicus | C210 | KKKACCPKIGC | 3 | Bos taurus, Mus musculus, Rattus norvegicus | C210 | KKKAYCPQIGC | 1 | Homo sapiens | C215 | CPKIGCSHTDM | 2 | Mus musculus, Rattus norvegicus | C215 | CPQIGCSHTDI | 1 | Homo sapiens | C215 | CPKIGCSHVDM | 1 | Bos taurus | H187 | NKMCGHTYEEE | 2 | Mus musculus, Rattus norvegicus | H187 | NKVCGHTYEED | 1 | Homo sapiens | H187 | NKVCGHTYEEE | 1 | Bos taurus |
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