mutLBSgeneDB |
Gene summary for B2M |
Gene summary |
Basic gene Info. | Gene symbol | B2M |
Gene name | beta-2-microglobulin | |
Synonyms | - | |
Cytomap | UCSC genome browser: 15q21-q22.2 | |
Type of gene | protein-coding | |
RefGenes | NM_004048.2, | |
Description | beta chain of MHC class I moleculesbeta-2-microglobin | |
Modification date | 20141207 | |
dbXrefs | MIM : 109700 | |
HGNC : HGNC | ||
Ensembl : ENSG00000166710 | ||
HPRD : 00189 | ||
Protein | UniProt: P61769 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_B2M | |
BioGPS: 567 | ||
Pathway | NCI Pathway Interaction Database: B2M | |
KEGG: B2M | ||
REACTOME: B2M | ||
Pathway Commons: B2M | ||
Context | iHOP: B2M | |
ligand binding site mutation search in PubMed: B2M | ||
UCL Cancer Institute: B2M | ||
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 B2M |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | M1 | M1I | HNSC | 2 | M1 | M1V | OV | 2 | I55 | D54N | BLCA | 1 | M1 | R3C | BRCA | 1 | Y83 | Y83F | BRCA | 1 | M1 | M1L | COAD | 1 | Y30 | Y30H | COAD | 1 | S75,S77 | F76L | COAD | 1 | L85,Y83 | L84R | COAD | 1 | N41 | L43R | COAD | 1 | M1 | M1I | COAD | 1 | Q28 | K26E | COAD | 1 | M1 | M1V | HNSC | 1 | H51 | H51P | KIRC | 1 | M1 | M1I | LUSC | 1 | M1 | M1L | SKCM | 1 | P92 | P92A | SKCM | 1 | M1 | M1I | STAD | 1 | E97 | Y98C | STAD | 1 | Y46,S48 | V47M | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | N41 | L43R | -1.5921543 | E97 | Y98C | -1.5162007 | Y83 | L84R | -1.0204237 | L85 | L84R | -1.0204237 | S48 | V47M | -0.9964957 | Y46 | V47M | -0.9964957 | I55 | D54N | -0.8268974 | S75 | F76L | -0.71881706 | S77 | F76L | -0.71881706 | P92 | P92A | -0.69565069 | M1 | R3C | -0.65203312 | M1 | M1V | -0.60936804 | M1 | M1I | -0.50992244 | H51 | H51P | -0.49991765 | Y83 | Y83F | -0.45980553 | M1 | M1L | -0.44274881 | Y30 | Y30H | -0.35521487 | Q28 | K26E | -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 ID | PDB title | PDB structure | 1A1M | MHC 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) |
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Phenotype information for B2M |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0022658 | Kidney Diseases | 5 | Biomarker |
umls:C2609414 | Acute Kidney Injury | 3 | Biomarker |
umls:C0079744 | Lymphoma, Large B-Cell, Diffuse | 3 | Biomarker |
umls:C0033578 | Prostatic Neoplasms | 2 | AlteredExpression, Biomarker |
umls:C0004364 | Autoimmune Diseases | 2 | Biomarker, Therapeutic |
umls:C1855796 | Hypoproteinemia, Hypercatabolic | 1 | Biomarker, GeneticVariation |
umls:C0279626 | Esophageal Squamous Cell Carcinoma | 1 | Biomarker |
umls:C0018799 | Heart Diseases | 1 | Biomarker |
umls:C0020455 | Hypergammaglobulinemia | 1 | Therapeutic |
umls:C0079774 | Lymphoma, T-Cell, Peripheral | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Approved|investigational|vet_approved | DB00254 | Doxycycline | Small molecule | |
Experimental | DB02740 | 3-Indolebutyric Acid | Small molecule | |
Experimental | DB04464 | N-Formylmethionine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of B2M 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 B2M |
Multiple alignments for P61769 in multiple species |
LBS | AA sequence | # species | Species | A35 | YSRHPPENGKP | 3 | Mus musculus, Rattus norvegicus, Macaca mulatta | A35 | YSRHPAENGKS | 2 | Homo sapiens, Pan troglodytes | A35 | YSRHPPEDGKP | 2 | Bos taurus, Bos taurus | A35 | YSHFPGEYGKP | 1 | Danio rerio | E36 | SRHPPENGKPN | 3 | Mus musculus, Rattus norvegicus, Macaca mulatta | E36 | SRHPAENGKSN | 2 | Homo sapiens, Pan troglodytes | E36 | SRHPPEDGKPN | 2 | Bos taurus, Bos taurus | E36 | SHFPGEYGKPN | 1 | Danio rerio | E56 | HPSDIEVDLLK | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | E56 | HPPQIEIDLLK | 2 | Bos taurus, Bos taurus | E56 | HPPDISIELLK | 1 | Danio rerio | E56 | HPPHIEIQMLK | 1 | Mus musculus | E56 | HPPQIEIELLK | 1 | Rattus norvegicus | E97 | PTEKDEYACRV | 2 | Homo sapiens, Pan troglodytes | E97 | PNSKDQYSCRV | 2 | Bos taurus, Bos taurus | E97 | PEKGDEYTCSV | 1 | Danio rerio | E97 | PTETDTYACRV | 1 | Mus musculus | E97 | PTETDVYACRV | 1 | Rattus norvegicus | E97 | PNEKDEYACRV | 1 | Macaca mulatta | H104 | ACRVNHVTLSQ | 2 | Homo sapiens, Pan troglodytes | H104 | SCRVKHVTLEQ | 2 | Bos taurus, Bos taurus | H104 | TCSVRH--MKE | 1 | Danio rerio | H104 | ACRVKHASMAE | 1 | Mus musculus | H104 | ACRVKHVTLKE | 1 | Rattus norvegicus | H104 | ACRVNHVTLSG | 1 | Macaca mulatta | H33 | QVYSRHPPENG | 3 | Mus musculus, Rattus norvegicus, Macaca mulatta | H33 | QVYSRHPAENG | 2 | Homo sapiens, Pan troglodytes | H33 | QVYSRHPPEDG | 2 | Bos taurus, Bos taurus | H33 | HVYSHFPGEYG | 1 | Danio rerio | H51 | YVSGFHPSDIE | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | H51 | YVYGFHPPQIE | 2 | Bos taurus, Bos taurus | H51 | YVSSFHPPDIS | 1 | Danio rerio | H51 | YVTQFHPPHIE | 1 | Mus musculus | H51 | YVSQFHPPQIE | 1 | Rattus norvegicus | I21 | SGLEAIQRTPK | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | I21 | SGLDAIQRPPK | 2 | Bos taurus, Bos taurus | I21 | TVQGKVS-TPK | 1 | Danio rerio | I21 | TGLYAIQKTPQ | 1 | Mus musculus | I21 | AVVLAIQKTPQ | 1 | Rattus norvegicus | I55 | FHPSDIEVDLL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | I55 | FHPPQIEIDLL | 2 | Bos taurus, Bos taurus | I55 | FHPPDISIELL | 1 | Danio rerio | I55 | FHPPHIEIQML | 1 | Mus musculus | I55 | FHPPQIEIELL | 1 | Rattus norvegicus | K39 | PAENGKSNFLN | 2 | Homo sapiens, Pan troglodytes | K39 | PPENGKPNFLN | 2 | Rattus norvegicus, Macaca mulatta | K39 | PPEDGKPNYLN | 2 | Bos taurus, Bos taurus | K39 | PGEYGKPNTLI | 1 | Danio rerio | K39 | PPENGKPNILN | 1 | Mus musculus | K78 | DLSFSKDWSFY | 6 | Homo sapiens, Rattus norvegicus, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta | K78 | DLAFEKGWQFH | 1 | Danio rerio | K78 | DMSFSKDWSFY | 1 | Mus musculus | K95 | FTPTEKDEYAC | 2 | Homo sapiens, Pan troglodytes | K95 | FTPNSKDQYSC | 2 | Bos taurus, Bos taurus | K95 | FTPEKGDEYTC | 1 | Danio rerio | K95 | FTPTETDTYAC | 1 | Mus musculus | K95 | FTPTETDVYAC | 1 | Rattus norvegicus | K95 | FTPNEKDEYAC | 1 | Macaca mulatta | L85 | WSFYLLYYTEF | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L85 | WSFYILAHTEF | 2 | Mus musculus, Rattus norvegicus | L85 | WSFYLLSHAEF | 2 | Bos taurus, Bos taurus | L85 | WQFHLTKSVAF | 1 | Danio rerio | M1 | 8 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta | N103 | YACRVNHVTLS | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | N103 | YSCRVKHVTLE | 2 | Bos taurus, Bos taurus | N103 | YTCSVRH--MK | 1 | Danio rerio | N103 | YACRVKHASMA | 1 | Mus musculus | N103 | YACRVKHVTLK | 1 | Rattus norvegicus | N41 | ENGKSNFLNCY | 2 | Homo sapiens, Pan troglodytes | N41 | ENGKPNFLNCY | 2 | Rattus norvegicus, Macaca mulatta | N41 | EDGKPNYLNCY | 2 | Bos taurus, Bos taurus | N41 | EYGKPNTLICY | 1 | Danio rerio | N41 | ENGKPNILNCY | 1 | Mus musculus | N62 | VDLLKNGERIE | 2 | Homo sapiens, Pan troglodytes | N62 | IDLLKNGEKI- | 2 | Bos taurus, Bos taurus | N62 | IELLKNGQVMS | 1 | Danio rerio | N62 | IQMLKNGKKIP | 1 | Mus musculus | N62 | IELLKNGKKIP | 1 | Rattus norvegicus | N62 | VDLLKNGEKMG | 1 | Macaca mulatta | P34 | VYSRHPPENGK | 3 | Mus musculus, Rattus norvegicus, Macaca mulatta | P34 | VYSRHPAENGK | 2 | Homo sapiens, Pan troglodytes | P34 | VYSRHPPEDGK | 2 | Bos taurus, Bos taurus | P34 | VYSHFPGEYGK | 1 | Danio rerio | P92 | YTEFTPTEKDE | 2 | Homo sapiens, Pan troglodytes | P92 | HAEFTPNSKDQ | 2 | Bos taurus, Bos taurus | P92 | SVAFTPEKGDE | 1 | Danio rerio | P92 | HTEFTPTETDT | 1 | Mus musculus | P92 | HTEFTPTETDV | 1 | Rattus norvegicus | P92 | YTEFTPNEKDE | 1 | Macaca mulatta | Q28 | RTPKIQVYSRH | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | Q28 | KTPQIQVYSRH | 2 | Mus musculus, Rattus norvegicus | Q28 | RPPKIQVYSRH | 2 | Bos taurus, Bos taurus | Q28 | -TPKVHVYSHF | 1 | Danio rerio | S31 | KIQVYSRHPPE | 3 | Bos taurus, Bos taurus, Macaca mulatta | S31 | KIQVYSRHPAE | 2 | Homo sapiens, Pan troglodytes | S31 | QIQVYSRHPPE | 2 | Mus musculus, Rattus norvegicus | S31 | KVHVYSHFPGE | 1 | Danio rerio | S48 | LNCYVSGFHPS | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | S48 | LNCYVYGFHPP | 2 | Bos taurus, Bos taurus | S48 | LICYVSSFHPP | 1 | Danio rerio | S48 | LNCYVTQFHPP | 1 | Mus musculus | S48 | LNCYVSQFHPP | 1 | Rattus norvegicus | S72 | EKVEHSDLSFS | 2 | Homo sapiens, Pan troglodytes | S72 | -KSEQSDLSFS | 2 | Bos taurus, Bos taurus | S72 | SDTKQTDLAFE | 1 | Danio rerio | S72 | PKVEMSDMSFS | 1 | Mus musculus | S72 | PNIEMSDLSFS | 1 | Rattus norvegicus | S72 | GKVEHSDLSFS | 1 | Macaca mulatta | S75 | EHSDLSFSKDW | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | S75 | EQSDLSFSKDW | 2 | Bos taurus, Bos taurus | S75 | KQTDLAFEKGW | 1 | Danio rerio | S75 | EMSDMSFSKDW | 1 | Mus musculus | S75 | EMSDLSFSKDW | 1 | Rattus norvegicus | S77 | SDLSFSKDWSF | 6 | Homo sapiens, Rattus norvegicus, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta | S77 | TDLAFEKGWQF | 1 | Danio rerio | S77 | SDMSFSKDWSF | 1 | Mus musculus | V57 | PSDIEVDLLKN | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | V57 | PPQIEIDLLKN | 2 | Bos taurus, Bos taurus | V57 | PPDISIELLKN | 1 | Danio rerio | V57 | PPHIEIQMLKN | 1 | Mus musculus | V57 | PPQIEIELLKN | 1 | Rattus norvegicus | W80 | SFSKDWSFYLL | 5 | Homo sapiens, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta | W80 | SFSKDWSFYIL | 2 | Mus musculus, Rattus norvegicus | W80 | AFEKGWQFHLT | 1 | Danio rerio | Y30 | PKIQVYSRHPP | 3 | Bos taurus, Bos taurus, Macaca mulatta | Y30 | PKIQVYSRHPA | 2 | Homo sapiens, Pan troglodytes | Y30 | PQIQVYSRHPP | 2 | Mus musculus, Rattus norvegicus | Y30 | PKVHVYSHFPG | 1 | Danio rerio | Y46 | NFLNCYVSGFH | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | Y46 | NYLNCYVYGFH | 2 | Bos taurus, Bos taurus | Y46 | NTLICYVSSFH | 1 | Danio rerio | Y46 | NILNCYVTQFH | 1 | Mus musculus | Y46 | NFLNCYVSQFH | 1 | Rattus norvegicus | Y83 | KDWSFYLLYYT | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | Y83 | KDWSFYILAHT | 2 | Mus musculus, Rattus norvegicus | Y83 | KDWSFYLLSHA | 2 | Bos taurus, Bos taurus | Y83 | KGWQFHLTKSV | 1 | Danio rerio | Y86 | SFYLLYYTEFT | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | Y86 | SFYILAHTEFT | 2 | Mus musculus, Rattus norvegicus | Y86 | SFYLLSHAEFT | 2 | Bos taurus, Bos taurus | Y86 | QFHLTKSVAFT | 1 | Danio rerio |
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