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Gene Gene information from NCBI Gene database.
Entrez ID 567
Gene name Beta-2-microglobulin
Gene symbol B2M
Synonyms (NCBI Gene)
AMYLD6IMD43MHC1D4
Chromosome 15
Chromosome location 15q21.1
Summary This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fib
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs398122820 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
922 Show/Hide all (922)
miRTarBase ID miRNA Experiments Reference
MIRT028088 hsa-miR-93-5p Sequencing 20371350
MIRT072257 hsa-miR-3609 PAR-CLIP 20371350
MIRT072258 hsa-miR-548ah-5p PAR-CLIP 20371350
MIRT072248 hsa-miR-106a-5p PAR-CLIP 20371350
MIRT072250 hsa-miR-106b-5p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NFKB1 Activation 12480693
USF1 Activation 12480693
USF2 Activation 12480693
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
85 Show/Hide all (85)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001913 Process T cell mediated cytotoxicity IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IEA
GO:0002237 Process Response to molecule of bacterial origin IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109700 914 ENSG00000166710
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61769
Protein name Beta-2-microglobulin [Cleaved into: Beta-2-microglobulin form pI 5.3]
Protein function Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its
PDB 1A1M , 1A1N , 1A1O , 1A6Z , 1A9B , 1A9E , 1AGB , 1AGC , 1AGD , 1AGE , 1AGF , 1AKJ , 1AO7 , 1B0G , 1B0R , 1BD2 , 1C16 , 1CE6 , 1CG9 , 1DE4 , 1DUY , 1DUZ , 1E27 , 1E28 , 1EEY , 1EEZ , 1EFX , 1EXU , 1GZP , 1GZQ , 1HHG , 1HHH , 1HHI , 1HHJ , 1HHK , 1HLA , 1HSA , 1HSB , 1I1F , 1I1Y , 1I4F , 1I7R , 1I7T , 1I7U , 1IM3 , 1IM9 , 1JF1 , 1JGD , 1JGE , 1JHT , 1JNJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 27 → 107 Immunoglobulin C1-set domain Domain
Sequence
Sequence length 119
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Antigen processing and presentation ER-Phagosome pathway
Human cytomegalovirus infection Endosomal/Vacuolar pathway
Human T-cell leukemia virus 1 infection Nef mediated downregulation of MHC class I complex cell surface expression
Herpes simplex virus 1 infection Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Epstein-Barr virus infection DAP12 interactions
Human immunodeficiency virus 1 infection DAP12 signaling
  Neutrophil degranulation
  Interferon gamma signaling
  Modulation by Mtb of host immune system
  Amyloid fiber formation
  Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyloidosis, hereditary systemic 6 Likely pathogenic rs1057519879 RCV005009638
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial visceral amyloidosis, Ostertag type Likely pathogenic; Pathogenic rs863225287, rs398122820 RCV002478720
RCV000024598
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoproteinemia, hypercatabolic Likely pathogenic rs863225287, rs1057519879 RCV000201934
RCV005009638
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Hodgkin lymphoma Pathogenic rs398122820 RCV000989305
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (24)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMYLOIDOSIS, FAMILIAL VISCERAL — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES — CTD 21793797
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (316)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 29573958
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 30826634
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 22005293, 2689182, 28885000
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 6296550
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 24135907, 28616688
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 30161158, 8737931
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 6296550
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 22137796, 27238634, 31782146
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 21453388, 29297942, 30630986
★★★★★
★☆☆☆☆
Found in Text Mining only