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 B2M
Gene summary
Basic gene Info.Gene symbolB2M
Gene namebeta-2-microglobulin
Synonyms-
CytomapUCSC genome browser: 15q21-q22.2
Type of geneprotein-coding
RefGenesNM_004048.2,
Descriptionbeta chain of MHC class I moleculesbeta-2-microglobin
Modification date20141207
dbXrefs MIM : 109700
HGNC : HGNC
Ensembl : ENSG00000166710
HPRD : 00189
ProteinUniProt: P61769
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_B2M
BioGPS: 567
PathwayNCI Pathway Interaction Database: B2M
KEGG: B2M
REACTOME: B2M
Pathway Commons: B2M
ContextiHOP: B2M
ligand binding site mutation search in PubMed: B2M
UCL Cancer Institute: B2M
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 B2M

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
M1M1IHNSC2
M1M1VOV2
I55D54NBLCA1
M1R3CBRCA1
Y83Y83FBRCA1
M1M1LCOAD1
Y30Y30HCOAD1
S75,S77F76LCOAD1
L85,Y83L84RCOAD1
N41L43RCOAD1
M1M1ICOAD1
Q28K26ECOAD1
M1M1VHNSC1
H51H51PKIRC1
M1M1ILUSC1
M1M1LSKCM1
P92P92ASKCM1
M1M1ISTAD1
E97Y98CSTAD1
Y46,S48V47MUCEC1
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 B2M
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
N41L43R-1.5921543
E97Y98C-1.5162007
Y83L84R-1.0204237
L85L84R-1.0204237
S48V47M-0.9964957
Y46V47M-0.9964957
I55D54N-0.8268974
S75F76L-0.71881706
S77F76L-0.71881706
P92P92A-0.69565069
M1R3C-0.65203312
M1M1V-0.60936804
M1M1I-0.50992244
H51H51P-0.49991765
Y83Y83F-0.45980553
M1M1L-0.44274881
Y30Y30H-0.35521487
Q28K26E-0.3275606
(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 B2M from PDB
PDB IDPDB titlePDB structure
1A1MMHC CLASS I MOLECULE B*5301 COMPLEXED WITH PEPTIDE TPYDINQML FROM GAG PROTEIN OF HIV2

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Differential gene expression and gene-gene network for B2M
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 B2M and the right PPI network was created from samples without mutations in the LBS of B2M. 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 B2M
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0022658Kidney Diseases5Biomarker
umls:C2609414Acute Kidney Injury3Biomarker
umls:C0079744Lymphoma, Large B-Cell, Diffuse3Biomarker
umls:C0033578Prostatic Neoplasms2AlteredExpression, Biomarker
umls:C0004364Autoimmune Diseases2Biomarker, Therapeutic
umls:C1855796Hypoproteinemia, Hypercatabolic1Biomarker, GeneticVariation
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker
umls:C0018799Heart Diseases1Biomarker
umls:C0020455Hypergammaglobulinemia1Therapeutic
umls:C0079774Lymphoma, T-Cell, Peripheral1Biomarker

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

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Pharmacological information for B2M
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigational|vet_approvedDB00254DoxycyclineSmall molecule
ExperimentalDB027403-Indolebutyric AcidSmall molecule
ExperimentalDB04464N-FormylmethionineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of B2M go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of B2M
Multiple alignments for P61769 in multiple species
LBSAA sequence# speciesSpecies
A35YSRHPPENGKP3Mus musculus, Rattus norvegicus, Macaca mulatta
A35YSRHPAENGKS2Homo sapiens, Pan troglodytes
A35YSRHPPEDGKP2Bos taurus, Bos taurus
A35YSHFPGEYGKP1Danio rerio
E36SRHPPENGKPN3Mus musculus, Rattus norvegicus, Macaca mulatta
E36SRHPAENGKSN2Homo sapiens, Pan troglodytes
E36SRHPPEDGKPN2Bos taurus, Bos taurus
E36SHFPGEYGKPN1Danio rerio
E56HPSDIEVDLLK3Homo sapiens, Pan troglodytes, Macaca mulatta
E56HPPQIEIDLLK2Bos taurus, Bos taurus
E56HPPDISIELLK1Danio rerio
E56HPPHIEIQMLK1Mus musculus
E56HPPQIEIELLK1Rattus norvegicus
E97PTEKDEYACRV2Homo sapiens, Pan troglodytes
E97PNSKDQYSCRV2Bos taurus, Bos taurus
E97PEKGDEYTCSV1Danio rerio
E97PTETDTYACRV1Mus musculus
E97PTETDVYACRV1Rattus norvegicus
E97PNEKDEYACRV1Macaca mulatta
H104ACRVNHVTLSQ2Homo sapiens, Pan troglodytes
H104SCRVKHVTLEQ2Bos taurus, Bos taurus
H104TCSVRH--MKE1Danio rerio
H104ACRVKHASMAE1Mus musculus
H104ACRVKHVTLKE1Rattus norvegicus
H104ACRVNHVTLSG1Macaca mulatta
H33QVYSRHPPENG3Mus musculus, Rattus norvegicus, Macaca mulatta
H33QVYSRHPAENG2Homo sapiens, Pan troglodytes
H33QVYSRHPPEDG2Bos taurus, Bos taurus
H33HVYSHFPGEYG1Danio rerio
H51YVSGFHPSDIE3Homo sapiens, Pan troglodytes, Macaca mulatta
H51YVYGFHPPQIE2Bos taurus, Bos taurus
H51YVSSFHPPDIS1Danio rerio
H51YVTQFHPPHIE1Mus musculus
H51YVSQFHPPQIE1Rattus norvegicus
I21SGLEAIQRTPK3Homo sapiens, Pan troglodytes, Macaca mulatta
I21SGLDAIQRPPK2Bos taurus, Bos taurus
I21TVQGKVS-TPK1Danio rerio
I21TGLYAIQKTPQ1Mus musculus
I21AVVLAIQKTPQ1Rattus norvegicus
I55FHPSDIEVDLL3Homo sapiens, Pan troglodytes, Macaca mulatta
I55FHPPQIEIDLL2Bos taurus, Bos taurus
I55FHPPDISIELL1Danio rerio
I55FHPPHIEIQML1Mus musculus
I55FHPPQIEIELL1Rattus norvegicus
K39PAENGKSNFLN2Homo sapiens, Pan troglodytes
K39PPENGKPNFLN2Rattus norvegicus, Macaca mulatta
K39PPEDGKPNYLN2Bos taurus, Bos taurus
K39PGEYGKPNTLI1Danio rerio
K39PPENGKPNILN1Mus musculus
K78DLSFSKDWSFY6Homo sapiens, Rattus norvegicus, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta
K78DLAFEKGWQFH1Danio rerio
K78DMSFSKDWSFY1Mus musculus
K95FTPTEKDEYAC2Homo sapiens, Pan troglodytes
K95FTPNSKDQYSC2Bos taurus, Bos taurus
K95FTPEKGDEYTC1Danio rerio
K95FTPTETDTYAC1Mus musculus
K95FTPTETDVYAC1Rattus norvegicus
K95FTPNEKDEYAC1Macaca mulatta
L85WSFYLLYYTEF3Homo sapiens, Pan troglodytes, Macaca mulatta
L85WSFYILAHTEF2Mus musculus, Rattus norvegicus
L85WSFYLLSHAEF2Bos taurus, Bos taurus
L85WQFHLTKSVAF1Danio rerio
M18Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta
N103YACRVNHVTLS3Homo sapiens, Pan troglodytes, Macaca mulatta
N103YSCRVKHVTLE2Bos taurus, Bos taurus
N103YTCSVRH--MK1Danio rerio
N103YACRVKHASMA1Mus musculus
N103YACRVKHVTLK1Rattus norvegicus
N41ENGKSNFLNCY2Homo sapiens, Pan troglodytes
N41ENGKPNFLNCY2Rattus norvegicus, Macaca mulatta
N41EDGKPNYLNCY2Bos taurus, Bos taurus
N41EYGKPNTLICY1Danio rerio
N41ENGKPNILNCY1Mus musculus
N62VDLLKNGERIE2Homo sapiens, Pan troglodytes
N62IDLLKNGEKI-2Bos taurus, Bos taurus
N62IELLKNGQVMS1Danio rerio
N62IQMLKNGKKIP1Mus musculus
N62IELLKNGKKIP1Rattus norvegicus
N62VDLLKNGEKMG1Macaca mulatta
P34VYSRHPPENGK3Mus musculus, Rattus norvegicus, Macaca mulatta
P34VYSRHPAENGK2Homo sapiens, Pan troglodytes
P34VYSRHPPEDGK2Bos taurus, Bos taurus
P34VYSHFPGEYGK1Danio rerio
P92YTEFTPTEKDE2Homo sapiens, Pan troglodytes
P92HAEFTPNSKDQ2Bos taurus, Bos taurus
P92SVAFTPEKGDE1Danio rerio
P92HTEFTPTETDT1Mus musculus
P92HTEFTPTETDV1Rattus norvegicus
P92YTEFTPNEKDE1Macaca mulatta
Q28RTPKIQVYSRH3Homo sapiens, Pan troglodytes, Macaca mulatta
Q28KTPQIQVYSRH2Mus musculus, Rattus norvegicus
Q28RPPKIQVYSRH2Bos taurus, Bos taurus
Q28-TPKVHVYSHF1Danio rerio
S31KIQVYSRHPPE3Bos taurus, Bos taurus, Macaca mulatta
S31KIQVYSRHPAE2Homo sapiens, Pan troglodytes
S31QIQVYSRHPPE2Mus musculus, Rattus norvegicus
S31KVHVYSHFPGE1Danio rerio
S48LNCYVSGFHPS3Homo sapiens, Pan troglodytes, Macaca mulatta
S48LNCYVYGFHPP2Bos taurus, Bos taurus
S48LICYVSSFHPP1Danio rerio
S48LNCYVTQFHPP1Mus musculus
S48LNCYVSQFHPP1Rattus norvegicus
S72EKVEHSDLSFS2Homo sapiens, Pan troglodytes
S72-KSEQSDLSFS2Bos taurus, Bos taurus
S72SDTKQTDLAFE1Danio rerio
S72PKVEMSDMSFS1Mus musculus
S72PNIEMSDLSFS1Rattus norvegicus
S72GKVEHSDLSFS1Macaca mulatta
S75EHSDLSFSKDW3Homo sapiens, Pan troglodytes, Macaca mulatta
S75EQSDLSFSKDW2Bos taurus, Bos taurus
S75KQTDLAFEKGW1Danio rerio
S75EMSDMSFSKDW1Mus musculus
S75EMSDLSFSKDW1Rattus norvegicus
S77SDLSFSKDWSF6Homo sapiens, Rattus norvegicus, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta
S77TDLAFEKGWQF1Danio rerio
S77SDMSFSKDWSF1Mus musculus
V57PSDIEVDLLKN3Homo sapiens, Pan troglodytes, Macaca mulatta
V57PPQIEIDLLKN2Bos taurus, Bos taurus
V57PPDISIELLKN1Danio rerio
V57PPHIEIQMLKN1Mus musculus
V57PPQIEIELLKN1Rattus norvegicus
W80SFSKDWSFYLL5Homo sapiens, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta
W80SFSKDWSFYIL2Mus musculus, Rattus norvegicus
W80AFEKGWQFHLT1Danio rerio
Y30PKIQVYSRHPP3Bos taurus, Bos taurus, Macaca mulatta
Y30PKIQVYSRHPA2Homo sapiens, Pan troglodytes
Y30PQIQVYSRHPP2Mus musculus, Rattus norvegicus
Y30PKVHVYSHFPG1Danio rerio
Y46NFLNCYVSGFH3Homo sapiens, Pan troglodytes, Macaca mulatta
Y46NYLNCYVYGFH2Bos taurus, Bos taurus
Y46NTLICYVSSFH1Danio rerio
Y46NILNCYVTQFH1Mus musculus
Y46NFLNCYVSQFH1Rattus norvegicus
Y83KDWSFYLLYYT3Homo sapiens, Pan troglodytes, Macaca mulatta
Y83KDWSFYILAHT2Mus musculus, Rattus norvegicus
Y83KDWSFYLLSHA2Bos taurus, Bos taurus
Y83KGWQFHLTKSV1Danio rerio
Y86SFYLLYYTEFT3Homo sapiens, Pan troglodytes, Macaca mulatta
Y86SFYILAHTEFT2Mus musculus, Rattus norvegicus
Y86SFYLLSHAEFT2Bos taurus, Bos taurus
Y86QFHLTKSVAFT1Danio rerio


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