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 EMR2
Gene summary
Basic gene Info.Gene symbolEMR2
Gene nameegf-like module containing, mucin-like, hormone receptor-like 2
SynonymsCD312
CytomapUCSC genome browser: 19p13.1
Type of geneprotein-coding
RefGenesNM_001271052.1,
NM_013447.3,NM_152916.1,NM_152917.1,NM_152918.1,
NM_152919.1,NM_152920.1,NM_152921.1,
DescriptionEGF-like module-containing mucin-like hormone receptor-like 2
Modification date20141207
dbXrefs MIM : 606100
HGNC : HGNC
Ensembl : ENSG00000127507
HPRD : 07308
Vega : OTTHUMG00000183408
ProteinUniProt: Q9UHX3
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EMR2
BioGPS: 30817
PathwayNCI Pathway Interaction Database: EMR2
KEGG: EMR2
REACTOME: EMR2
Pathway Commons: EMR2
ContextiHOP: EMR2
ligand binding site mutation search in PubMed: EMR2
UCL Cancer Institute: EMR2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for EMR2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D67D67NCOAD1
G90G90ELUSC1
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.
LBSAAchange of nsSNVRelative stability change
D67D67N-0.86914568
G90G90E-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)
* Left PPI network was created from samples with mutations in the LBS of EMR2 and the right PPI network was created from samples without mutations in the LBS of EMR2. 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 EMR2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for EMR2
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 EMR2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of EMR2
Multiple alignments for Q9UHX3 in multiple species
LBSAA sequence# speciesSpecies
D119ENTCQDVDECQ2Homo sapiens, Macaca mulatta
D119ENTCRDVDECQ1Canis lupus familiaris
D67METCDDINECA1Homo sapiens
D67LESCDDIDECG1Canis lupus familiaris
D67TEICDDINECV1Macaca mulatta
E215CEDVDECSSGQ1Homo sapiens
E215CEDVDECSSGK1Canis lupus familiaris
E215CEDVDECSSGL1Macaca mulatta
E70CDDINECATLS1Homo sapiens
E70CDDIDECGPPP1Canis lupus familiaris
E70CDDINECVPPS1Macaca mulatta
G234CFNTVGSYSCR1Homo sapiens
G234CINTVGSYKCR1Canis lupus familiaris
G234CFNTVGSYTCR1Macaca mulatta
G90CWNTEGSYDCV1Homo sapiens
G90CQNTEGSYHCM1Canis lupus familiaris
G90CRNTEGSYDCV1Macaca mulatta
I68ETCDDINECAT1Homo sapiens
I68ESCDDIDECGP1Canis lupus familiaris
I68EICDDINECVP1Macaca mulatta
N231STVCFNTVGSY2Homo sapiens, Macaca mulatta
N231STVCINTVGSY1Canis lupus familiaris
N69TCDDINECATL1Homo sapiens
N69SCDDIDECGPP1Canis lupus familiaris
N69ICDDINECVPP1Macaca mulatta
N87FSDCWNTEGSY1Homo sapiens
N87LADCQNTEGSY1Canis lupus familiaris
N87SSDCRNTEGSY1Macaca mulatta
S235FNTVGSYSCRC1Homo sapiens
S235INTVGSYKCRC1Canis lupus familiaris
S235FNTVGSYTCRC1Macaca mulatta
S91WNTEGSYDCVC1Homo sapiens
S91QNTEGSYHCMC1Canis lupus familiaris
S91RNTEGSYDCVC1Macaca mulatta
T232TVCFNTVGSYS1Homo sapiens
T232TVCINTVGSYK1Canis lupus familiaris
T232TVCFNTVGSYT1Macaca mulatta
T88SDCWNTEGSYD1Homo sapiens
T88ADCQNTEGSYH1Canis lupus familiaris
T88SDCRNTEGSYD1Macaca mulatta
V213TVCEDVDECSS2Homo sapiens, Canis lupus familiaris
V213TICEDVDECSS1Macaca mulatta


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