B2M Chromosome 15
Beta-2-microglobulin
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What This Gene Does
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 fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
Gene Info
Gene Group
C1-set domain containing
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000166710
Associated Conditions (8)
Hypoproteinemia
hypercatabolic
Inborn genetic diseases
Amyloidosis
hereditary systemic 6
Familial visceral amyloidosis
Ostertag type
Non-Hodgkin lymphoma
Key Variants
RS778103494
Conflicting classifications of pathogenicity
Hypoproteinemia, hypercatabolic, Inborn genetic diseases
Health Risk
RS1057519879
Likely pathogenic
Amyloidosis, hereditary systemic 6, Hypoproteinemia
Health Risk
RS863225287
Likely pathogenic
Hypoproteinemia, hypercatabolic, Familial visceral amyloidosis
Health Risk
RS2086865732
Pathogenic
Hypoproteinemia, hypercatabolic, Hypoproteinemia
Health Risk
RS398122820
Pathogenic
Familial visceral amyloidosis, Ostertag type, Non-Hodgkin lymphoma
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS778103494 | Health Risk | Conflicting classifications of pathogenicity | Hypoproteinemia, hypercatabolic, Inborn genetic diseases |
| RS1057519879 | Health Risk | Likely pathogenic | Amyloidosis, hereditary systemic 6, Hypoproteinemia |
| RS863225287 | Health Risk | Likely pathogenic | Hypoproteinemia, hypercatabolic, Familial visceral amyloidosis |
| RS2086865732 | Health Risk | Pathogenic | Hypoproteinemia, hypercatabolic, Hypoproteinemia |
| RS398122820 | Health Risk | Pathogenic | Familial visceral amyloidosis, Ostertag type, Non-Hodgkin lymphoma |