Gene
b2m
- ID
- ZDB-GENE-980526-88
- Name
- beta-2-microglobulin
- Symbol
- b2m Nomenclature History
- Previous Names
-
- bwm
- wu:fa94c05
- wu:fb10a09
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and protein kinase activity. Predicted to be involved in several processes, including antigen processing and presentation of peptide antigen via MHC class I; protein phosphorylation; and regulation of innate immune response. Predicted to localize to MHC class I protein complex; extracellular region; and integral component of membrane. Human ortholog(s) of this gene implicated in arthritis; familial visceral amyloidosis; inflammatory bowel disease; and primary immunodeficiency disease. Is expressed in several structures, including eye; heart; integument; liver; and pleuroperitoneal region. Orthologous to human B2M (beta-2-microglobulin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| immunodeficiency 43 | Alliance | Immunodeficiency 43 | 241600 |
| Amyloidosis, hereditary systemic 6 | 620659 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003006 | Immunoglobulin/major histocompatibility complex, conserved site |
| Domain | IPR003597 | Immunoglobulin C1-set |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Family | IPR015707 | Beta-2-Microglobulin |
| Family | IPR050160 | Major Histocompatibility Complex/Immunoglobulin |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Beta-2-Microglobulin | Immunoglobulin C1-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin/major histocompatibility complex, conserved site | Major Histocompatibility Complex/Immunoglobulin |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q04475
|
116 | |||||||
|
UniProtKB:B0UYS1
|
116 |
Interactions and Pathways
No data available
Plasmids
No data available