B2M (beta-2-microglobulin)

2007-02-01  

Identity

HGNC
B2M
LOCATION
15q21.1
LOCUSID
567
ALIAS
IMD43
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 567
MIM: 109700
HGNC: 914
Ensembl: ENSG00000166710

Variants:

dbSNP: 567
ClinVar: 567
TCGA: ENSG00000166710
COSMIC: B2M

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166710ENST00000349264J3KNU0
ENSG00000166710ENST00000544417F5H6I0
ENSG00000166710ENST00000557901Q16446
ENSG00000166710ENST00000559916P61769
ENSG00000166710ENST00000561139H0YLF3
ENSG00000166710ENST00000561424P61769
ENSG00000166710ENST00000648006P61769

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Antigen processing and presentationKEGGko04612
Antigen processing and presentationKEGGhsa04612
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersREACTOMER-HSA-164938
Nef mediated downregulation of MHC class I complex cell surface expressionREACTOMER-HSA-164940
Amyloid fiber formationREACTOMER-HSA-977225
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Endosomal/Vacuolar pathwayREACTOMER-HSA-1236977
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon gamma signalingREACTOMER-HSA-877300
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
221377962011Combined genetic inactivation of β2-Microglobulin and CD58 reveals frequent escape from immune recognition in diffuse large B cell lymphoma.109
164910922006Amyloid formation under physiological conditions proceeds via a native-like folding intermediate.103
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
160240392005Competing pathways determine fibril morphology in the self-assembly of beta2-microglobulin into amyloid.83
119675672002Mapping the core of the beta(2)-microglobulin amyloid fibril by H/D exchange.79
118772962002Oncogenesis of multiple myeloma: 14q32 and 13q chromosomal abnormalities are not randomly distributed, but correlate with natural history, immunological features, and clinical presentation.64
1710808420063D structure of amyloid protofilaments of beta2-microglobulin fragment probed by solid-state NMR.56
152496592004An amyloid-forming segment of beta2-microglobulin suggests a molecular model for the fibril.54
120239612002Functional reconstitution of human FcRn in Madin-Darby canine kidney cells requires co-expressed human beta 2-microglobulin.53
121194162002Crystal structure of monomeric human beta-2-microglobulin reveals clues to its amyloidogenic properties.53

Citation

Dessen P

B2M (beta-2-microglobulin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46339/b2m