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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 HIV Life Cycle and Measles. 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 | 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 |
.64
|
.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 |
---|---|---|---|---|---|
841336 | Uncertain Significance: Hypoproteinemia, hypercatabolic | 44,715,440(+) |
G/T NM_004048.4(B2M):c.85G>T (p.Val29Phe) |
MISSENSE | |
rs1023835002 | Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck. Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck | 44,711,547(+) |
A/GA/T NM_004048.3(B2M):c.1A>G (p.Met1Val) |
INITIATIOR_CODON_VARIANT,MISSENSE | |
rs104894481 | Uncertain Significance: Hypoproteinemia, hypercatabolic. Immunodeficiency 43 (IMD43) [MIM:241600] | 44,711,577(+) |
G/Cp.Ala11Pro NM_004048.3(B2M):c.31G>C (p.Ala11Pro) |
MISSENSE | |
rs1057519877 | Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck | 44,711,549(+) |
G/A NM_004048.3(B2M):c.3G>A (p.Met1Ile) |
INITIATIOR_CODON_VARIANT,MISSENSE | |
rs1057519879 | Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck. Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck | 44,711,548(+) |
T/CT/G NM_004048.3(B2M):c.2T>C (p.Met1Thr) |
INITIATIOR_CODON_VARIANT,MISSENSE |
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 |
|
|