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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]
B2M (Beta-2-Microglobulin) is a Protein Coding gene. Diseases associated with B2M include Immunodeficiency 43 and Amyloidosis, Familial Visceral. Among its related pathways are Antigen processing-Cross presentation and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is HLA-DPA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 9427624 |
GO:0042802 | identical protein binding | IPI | 17108084 |
GO:0042803 | protein homodimerization activity | IDA | 28468825 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IEA,HDA | 16502470 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Antigen processing-Cross presentation |
Immune response Antigen presentation by MHC class I
.51
|
|
2 | HIV Life Cycle |
.65
|
.45
|
3 | Innate Immune System |
.61
|
|
4 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | ||
5 | Human cytomegalovirus infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001895 | retina homeostasis | HEP | 23580065 |
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IEA | -- |
GO:0002237 | response to molecule of bacterial origin | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | IEA,TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||
SP2: | - | - | - | - | |||||||||
SP3: | - | ||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B2M 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B2M 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B2M 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | B2m 30 |
|
||
Mouse (Mus musculus) |
Mammalia | B2m 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | B2M 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
B2M 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | B2M 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | b2ml 30 31 |
|
OneToMany | |
b2m 31 |
|
OneToMany | |||
B2M (3 of 3) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719660 | Likely Benign: Hypoproteinemia, hypercatabolic | 44,715,514(+) | C/T | SYNONYMOUS_VARIANT | |
841336 | Uncertain Significance: Hypoproteinemia, hypercatabolic | 44,715,440(+) | G/T | MISSENSE_VARIANT | |
rs1023835002 | Likely Pathogenic: Multiple myeloma; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung cancer; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Malignant melanoma of skin. Likely Pathogenic: Multiple myeloma; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung cancer; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Malignant melanoma of skin | 44,711,547(+) | A/GA/T | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT | |
rs104894481 | Pathogenic: Hypoproteinemia, hypercatabolic. Immunodeficiency 43 (IMD43) [MIM:241600] | 44,711,577(+) | G/Cp.Ala11Pro | MISSENSE_VARIANT | |
rs1057519877 | Likely Pathogenic: Multiple myeloma; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung cancer; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck; Malignant melanoma of skin | 44,711,549(+) | G/A | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2760029 | CNV | gain+loss | 17122850 |
nsv832990 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 43 |
|
|
amyloidosis, familial visceral |
|
|
variant abeta2m amyloidosis |
|
|
immunodeficiency by defective expression of mhc class i |
|
|
lymphoma, non-hodgkin, familial |
|