mutLBSgeneDB |
Gene summary for EMR2 |
Gene summary |
Basic gene Info. | Gene symbol | EMR2 |
Gene name | egf-like module containing, mucin-like, hormone receptor-like 2 | |
Synonyms | CD312 | |
Cytomap | UCSC genome browser: 19p13.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001271052.1, NM_013447.3,NM_152916.1,NM_152917.1,NM_152918.1, NM_152919.1,NM_152920.1,NM_152921.1, | |
Description | EGF-like module-containing mucin-like hormone receptor-like 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 606100 | |
HGNC : HGNC | ||
Ensembl : ENSG00000127507 | ||
HPRD : 07308 | ||
Vega : OTTHUMG00000183408 | ||
Protein | UniProt: Q9UHX3 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EMR2 | |
BioGPS: 30817 | ||
Pathway | NCI Pathway Interaction Database: EMR2 | |
KEGG: EMR2 | ||
REACTOME: EMR2 | ||
Pathway Commons: EMR2 | ||
Context | iHOP: EMR2 | |
ligand binding site mutation search in PubMed: EMR2 | ||
UCL Cancer Institute: EMR2 | ||
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 EMR2 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D67 | D67N | COAD | 1 | G90 | G90E | LUSC | 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 EMR2 |
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. |
LBS | AAchange of nsSNV | Relative stability change | D67 | D67N | -0.86914568 | G90 | G90E | -0.86717984 |
(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 EMR2 from PDB |
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Differential gene expression and gene-gene network for EMR2 |
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 EMR2 |
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 EMR2 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of EMR2 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 EMR2 |
Multiple alignments for Q9UHX3 in multiple species |
LBS | AA sequence | # species | Species | D119 | ENTCQDVDECQ | 2 | Homo sapiens, Macaca mulatta | D119 | ENTCRDVDECQ | 1 | Canis lupus familiaris | D67 | METCDDINECA | 1 | Homo sapiens | D67 | LESCDDIDECG | 1 | Canis lupus familiaris | D67 | TEICDDINECV | 1 | Macaca mulatta | E215 | CEDVDECSSGQ | 1 | Homo sapiens | E215 | CEDVDECSSGK | 1 | Canis lupus familiaris | E215 | CEDVDECSSGL | 1 | Macaca mulatta | E70 | CDDINECATLS | 1 | Homo sapiens | E70 | CDDIDECGPPP | 1 | Canis lupus familiaris | E70 | CDDINECVPPS | 1 | Macaca mulatta | G234 | CFNTVGSYSCR | 1 | Homo sapiens | G234 | CINTVGSYKCR | 1 | Canis lupus familiaris | G234 | CFNTVGSYTCR | 1 | Macaca mulatta | G90 | CWNTEGSYDCV | 1 | Homo sapiens | G90 | CQNTEGSYHCM | 1 | Canis lupus familiaris | G90 | CRNTEGSYDCV | 1 | Macaca mulatta | I68 | ETCDDINECAT | 1 | Homo sapiens | I68 | ESCDDIDECGP | 1 | Canis lupus familiaris | I68 | EICDDINECVP | 1 | Macaca mulatta | N231 | STVCFNTVGSY | 2 | Homo sapiens, Macaca mulatta | N231 | STVCINTVGSY | 1 | Canis lupus familiaris | N69 | TCDDINECATL | 1 | Homo sapiens | N69 | SCDDIDECGPP | 1 | Canis lupus familiaris | N69 | ICDDINECVPP | 1 | Macaca mulatta | N87 | FSDCWNTEGSY | 1 | Homo sapiens | N87 | LADCQNTEGSY | 1 | Canis lupus familiaris | N87 | SSDCRNTEGSY | 1 | Macaca mulatta | S235 | FNTVGSYSCRC | 1 | Homo sapiens | S235 | INTVGSYKCRC | 1 | Canis lupus familiaris | S235 | FNTVGSYTCRC | 1 | Macaca mulatta | S91 | WNTEGSYDCVC | 1 | Homo sapiens | S91 | QNTEGSYHCMC | 1 | Canis lupus familiaris | S91 | RNTEGSYDCVC | 1 | Macaca mulatta | T232 | TVCFNTVGSYS | 1 | Homo sapiens | T232 | TVCINTVGSYK | 1 | Canis lupus familiaris | T232 | TVCFNTVGSYT | 1 | Macaca mulatta | T88 | SDCWNTEGSYD | 1 | Homo sapiens | T88 | ADCQNTEGSYH | 1 | Canis lupus familiaris | T88 | SDCRNTEGSYD | 1 | Macaca mulatta | V213 | TVCEDVDECSS | 2 | Homo sapiens, Canis lupus familiaris | V213 | TICEDVDECSS | 1 | Macaca mulatta |
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