B2M
entrez
567
canonical
uniprot
P61769
canonical
ensembl
ENSG00000166710
resolver
ensembl
ENSG00000273686
resolver
ensp
ENSP00000453191
resolver
ensp
ENSP00000453350
resolver
ensp
ENSP00000481426
resolver
ensp
ENSP00000488321
resolver
ensp
ENSP00000488548
resolver
ensp
ENSP00000497910
resolver
ensp
ENSP00000576135
resolver
ensp
ENSP00000576136
resolver
ensp
ENSP00000586497
resolver
enst
ENST00000559916
resolver
enst
ENST00000561424
resolver
enst
ENST00000617605
resolver
enst
ENST00000631573
resolver
enst
ENST00000631728
resolver
enst
ENST00000648006
resolver
enst
ENST00000906076
resolver
enst
ENST00000906077
resolver
enst
ENST00000916438
resolver
genesymbol
B2M
resolver
hgnc
HGNC:914
resolver
uniprot
P01884
resolver
uniprot
Q540F8
resolver
uniprot
Q6IAT8
resolver
uniprot
Q9UCK0
resolver
uniprot
Q9UD48
resolver
uniprot
Q9UDF4
resolver
uniprot_entry
B2MG_HUMAN
resolver
uniprot_sec
P01884
resolver
uniprot_sec
Q540F8
resolver
uniprot_sec
Q6IAT8
resolver
uniprot_sec
Q9UCK0
resolver
uniprot_sec
Q9UD48
resolver
uniprot_sec
Q9UDF4
resolver
amino_acid_sequence
MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLNCYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRVNHVTLSQPKIVKWDRDM
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 43 (IMD43) [MIM:241600]: A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease. {ECO:0000269|PubMed:16549777}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Amyloidosis, hereditary systemic 6 (AMYLD6) [MIM:620659]: A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. {ECO:0000269|PubMed:22693999}. Note=The disease is caused by variants affecting the gene represented in this entry. Apart from the presence of causative mutations, beta-2-microglobulin may adopt the fibrillar configuration of amyloid, resulting in amyloidosis, when its serum levels are persistently high, as seen in patients on long-term hemodialysis (PubMed:7918443). In contrast to patients with dialysis-related amyloidosis, patients with hereditary amyloidosis have normal circulating concentrations of beta2-microglobulin (PubMed:22693999). {ECO:0000269|PubMed:22693999, ECO:0000269|PubMed:7918443}.
uniprot
proteins
function
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 export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553). {ECO:0000269|PubMed:25356553}.
uniprot
proteins
mass_dalton
13715
uniprot
proteins
mutagenesis
MUTAGEN 79; /note="D->P: Increases tendency towards amyloid formation."; /evidence="ECO:0000269|PubMed:18835253"; MUTAGEN 80; /note="W->G: Decreases tendency towards amyloid formation."; /evidence="ECO:0000269|PubMed:18395224, ECO:0000269|PubMed:19284997"; MUTAGEN 80; /note="W->V: Increases tendency towards amyloid formation."; /evidence="ECO:0000269|PubMed:18395224, ECO:0000269|PubMed:19284997
uniprot
proteins
post_translational_modification
PTM: Glycation of Ile-21 is observed in long-term hemodialysis patients.
uniprot
proteins
protein_family
Beta-2-microglobulin family
uniprot
proteins
pubmed
10605026
uniprot
proteins
pubmed
11894933
uniprot
proteins
pubmed
12119416
uniprot
proteins
pubmed
12796775
uniprot
proteins
pubmed
1336137
uniprot
proteins
pubmed
1390678
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16108498
uniprot
proteins
pubmed
16491088
uniprot
proteins
pubmed
16549777
uniprot
proteins
pubmed
16901902
uniprot
proteins
pubmed
17056715
uniprot
proteins
pubmed
17646174
uniprot
proteins
pubmed
18395224
uniprot
proteins
pubmed
18835253
uniprot
proteins
pubmed
19284997
uniprot
proteins
pubmed
2038058
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22693999
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24695216
uniprot
proteins
pubmed
25356553
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25946035
uniprot
proteins
pubmed
3309677
uniprot
proteins
pubmed
3312414
uniprot
proteins
pubmed
3532124
uniprot
proteins
pubmed
4586824
uniprot
proteins
pubmed
6171820
uniprot
proteins
pubmed
7554280
uniprot
proteins
pubmed
7862664
uniprot
proteins
pubmed
7918443
uniprot
proteins
pubmed
8084451
uniprot
proteins
pubmed
8624812
uniprot
proteins
pubmed
9427624
uniprot
proteins
sequence_length
119
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1336137, ECO:0000269|PubMed:7554280}. Cell surface {ECO:0000269|PubMed:25356553}. Note=Detected in serum and urine (PubMed:1336137, PubMed:7554280). {ECO:0000269|PubMed:7554280, ECO:0000269|Ref.6}.; SUBCELLULAR LOCATION: Note=(Microbial infection) In the presence of M.tuberculosis EsxA-EsxB complex decreased amounts of B2M are found on the cell surface (PubMed:25356553). {ECO:0000269|PubMed:25356553}.
uniprot
proteins