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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 ... See more...
Aliases for B2M Gene
Aliases for B2M Gene
External Ids for B2M Gene
- HGNC: 914
- Entrez Gene: 567
- Ensembl: ENSG00000166710
- OMIM: 109700
- UniProtKB: P61769
Previous GeneCards Identifiers for B2M Gene
- GC15P040370
- GC15P037899
- GC15P042582
- GC15P042719
- GC15P042790
- GC15P045003
- GC15P021827
Summaries for B2M Gene
-
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]
GeneCards Summary for B2M Gene
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.
UniProtKB/Swiss-Prot Summary for B2M Gene
-
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).
Additional gene information for B2M Gene
- HGNC(914)
- Entrez Gene(567)
- Ensembl(ENSG00000166710)
- OMIM(109700)
- UniProtKB(P61769)
- Open Targets Platform(ENSG00000166710)
- Monarch Initiative
- Search for B2M at DataMed
- Search for B2M at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B2M Gene
Genomics for B2M Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B2M Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B2M on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B2M
- Top Transcription factor binding sites by QIAGEN in the B2M gene promoter:
-
- ATF-2
- GATA-1
- GATA-6
- POU3F2
- SRY
- STAT1
- STAT1alpha
- STAT1beta
- TBP
Genomic Locations for B2M Gene
Genomic Locations for B2M Gene
- chr15:44,711,487-44,718,877
- (GRCh38/hg38)
- Size:
- 7,391 bases
- Orientation:
- Plus strand
- chr15:45,003,675-45,011,075
- (GRCh37/hg19)
- Size:
- 7,401 bases
- Orientation:
- Plus strand
Genomic View for B2M Gene
Genes around B2M on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.1 by HGNC
- 15q21.1 by Entrez Gene
- 15q21.1 by Ensembl
B2M Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for B2M Gene
Proteins for B2M Gene
-
Protein details for B2M Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P61769-B2MG_HUMAN
- Recommended name:
- Beta-2-microglobulin
- Protein Accession:
- P61769
- P01884
- Q540F8
- Q6IAT8
- Q9UCK0
- Q9UD48
- Q9UDF4
Protein attributes for B2M Gene
- Size:
- 119 amino acids
- Molecular mass:
- 13715 Da
- Quaternary structure:
-
- Heterodimer of an alpha chain and a beta chain. Beta-2-microglobulin is the beta-chain of major histocompatibility complex class I molecules. Polymers of beta 2-microglobulin can be found in tissues from patients on long-term hemodialysis. B2M alone (not in complex with HLA-I) interacts with M.tuberculosis EsxA (ESAT-6) and an EsxA-EsxB (CFP-10) complex; the tripartite complex can be detected in the host endoplasmic reticulum (PubMed:25356553). The B2M-EsxA complex can be detected in patients with pleural tuberculosis and is stable from pH 4.0 to 8.0 and in the presence of 2M NaCl (PubMed:25356553). Forms a heterotrimer with HLA-E and a self- or a foreign peptide (PubMed:9427624). Forms a heterotrimer with HLA-G and a self-peptide (PubMed:17056715). Forms a heterotrimer with HLA-F and a self-peptide (PubMed:10605026). Forms a heterotrimer with MR1 and a metabolite antigen.
Protein Expression for B2M Gene
Post-translational modifications for B2M Gene
- Glycation of Ile-21 is observed in long-term hemodialysis patients.
-
Glycosylation at Ile21, Lys39, Lys61, Lys68, Lys78, Thr106, Lys111, and Lys114
- NX_P61769 (NX_P61769-1)
- Modification sites at PhosphoSitePlus
Other Protein References for B2M Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ B2M Antibody
- NSJ Bioreagents Beta-2 Microglobulin Antibody (Mouse Monoclonal)
-
BioLegend
- beta2-microglobulin Antibody (316306)
- beta2-microglobulin Antibody (316305)
- beta2-microglobulin Antibody (316302)
- beta2-microglobulin Antibody (316304)
- beta2-microglobulin Antibody (316308)
- beta2-microglobulin Antibody (316312)
- beta2-microglobulin Antibody (316311)
- beta2-microglobulin Antibody (280303)
- beta2-microglobulin Antibody (316318)
- beta2-microglobulin Antibody (316317)
- APC/Fire(TM) 750 beta2-microglobulin Antibody (316314)
- PerCP/Cyanine5.5 beta2-microglobulin Antibody (316315)
- APC/Fire(TM) 750 beta2-microglobulin Antibody (316313)
- PerCP/Cyanine5.5 beta2-microglobulin Antibody (316316)
- beta2-microglobulin Antibody (316320)
- beta2-microglobulin Antibody (316319)
- TotalSeq(TM)-A0057 beta2-microglobulin Antibody
- beta2-microglobulin Antibody (395803)
- beta2-microglobulin Antibody (395804)
- beta2-microglobulin Antibody (395702)
-
Custom Antibody ServicesOriGene Antibodies for B2M
- AM02302PU-N
- AM02303PU-N
- AM09263PU-N
- AM09264PU-N
- AM09265PU-N
- AM09266HR-N
- AM20523PU-N
- AP12414PU-N
- AP12415PU-N
- AP31732PU-N
- AP31992PU-N
- BM2145
- BM603
- BM604B
- BM604F
- BM604HRP
- BM604PE
- BM604S
- CF802776
- CF803617
- DDX0060P-100
- R1065BS
- R1065HRP
- R1065HRPS
- SM1707
- SM1707PS
- SM3150B
- SM3150P
- TA311281
- TA318002
- TA318043
- TA319173
- TA319617
- TA321615
- TA321616
- TA327075
- TA352992L
- TA802776
- TA802776JM
- TA802776S
- TA803617
- TA803617S
- Novus Biologicals Antibodies for B2M
-
Abcam antibodies for B2M
- Invitrogen Antibodies for B2M (AFLGC-B2m)
- antibodies-online: Show 188 available beta-2 Microglobulin Antibodies ranked by validation data
- Compare Top beta-2 Microglobulin Antibodies
-
Recommended
- 262 WB Antibodies (anti-human)
- 103 IHC (p) Antibodies (anti-human)
- 70 FACS Antibodies (anti-human)
- 70 IF Antibodies (anti-human)
- 43 IHC (f) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 13 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 EIA Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 3 RIA Antibodies (anti-human)
- 2 IEP Antibodies (anti-human)
- 1 IA Antibody (anti-human)
- 1 ID Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 RID Antibody (anti-human)
- 40 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 2 RIA Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IF Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 51 WB Antibodies (anti-rat)
- 12 FACS Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 IHC (fro) Antibodies (anti-rat)
- 2 RIA Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for B2M
-
Santa Cruz Biotechnology (SCBT) Antibodies for B2M
- Sino Biological Antibodies for B2M
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for B2M
- Origene Custom Protein Services for B2M
- Sino Biological Recombinant Proteins for B2M
- Sino Biological Cell Lysates for B2M
- ProSpec Recombinant Proteins for B2M
-
Abcam proteins for B2M
Assay Products
- RayBiotech Human B2M ELISA
- Novus Biologicals ELISA Kits for B2M
- antibodies-online: Show 101 available beta-2 Microglobulin Elisa Kits ranked by validation data
- Compare Top beta-2 Microglobulin Elisa Kits
-
Quality Products:
- ABIN365026
- ABIN6730891
- ABIN6720456
- ABIN624946
- ABIN5067593
- ABIN612797
- ABIN1884526
- ABIN414956
- ABIN491851
- ABIN1568565
- ABIN2014324
- ABIN457118
- ABIN1568566
- ABIN1884527
- ABIN5522903
- ABIN5593497
- ABIN773404
- ABIN5652184
- ABIN6254553
- ABIN4967481
- ABIN1113753
- ABIN367427
- ABIN1874252
- ABIN579500
- ABIN5670701
- ABIN5696519
- ABIN1568567
- ABIN5593498
- ABIN772061
- ABIN5652186
- ABIN826082
- ABIN1559764
- ABIN779321
- ABIN778266
- ABIN1123524
-
Signalway ELISA kits for B2M
-
Abcam assays for B2M
- Sino Biological Assays for B2M
No data available for DME Specific Peptides for B2M Gene
Domains & Families for B2M Gene
Gene Families for B2M Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for B2M Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for B2M Gene
- GenScript: Design optimal peptide antigens:
-
- Beta-2-microglobulin (B2MG_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P61769- Family:
-
- Belongs to the beta-2-microglobulin family.
Function for B2M Gene
Molecular function for B2M Gene
- UniProtKB/Swiss-Prot 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).
- GENATLAS Biochemistry:
- microglobulin,beta-2 mutated in any tumoral cells (with loss of HLA class 1 antigen)
Phenotypes From GWAS Catalog for B2M Gene
| 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 |
Phenotypes for B2M Gene
- MGI mutant phenotypes for B2M:
-
inferred from 3 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for B2M:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability ratio
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Increased hepcidin::fluc mRNA expression
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
Animal Models for B2M Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for B2M
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B2M - Select products 50% OFF >
- * B2M CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for B2M
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B2M
-
Santa Cruz Biotechnology (SCBT) CRISPR for B2M
miRNA for B2M Gene
- miRTarBase miRNAs that target B2M
-
- mmu-miR-122-5p (MIRT005976)
- hsa-miR-93-5p (MIRT028088)
- hsa-miR-17-5p (MIRT072246)
- hsa-miR-20a-5p (MIRT072247)
- hsa-miR-106a-5p (MIRT072248)
- hsa-miR-142-5p (MIRT072249)
- hsa-miR-106b-5p (MIRT072250)
- hsa-miR-20b-5p (MIRT072251)
- hsa-miR-526b-3p (MIRT072252)
- hsa-miR-519d-3p (MIRT072253)
- hsa-miR-568 (MIRT072254)
- hsa-miR-2113 (MIRT072255)
- hsa-miR-3609 (MIRT072257)
- hsa-miR-548ah-5p (MIRT072258)
- hsa-miR-4796-3p (MIRT072259)
- hsa-miR-5590-3p (MIRT072260)
- hsa-miR-6792-5p (MIRT072261)
- hsa-miR-491-3p (MIRT072274)
- hsa-miR-4495 (MIRT072275)
- hsa-miR-4670-3p (MIRT072276)
- hsa-miR-6079 (MIRT072278)
- hsa-miR-16-2-3p (MIRT192760)
- hsa-miR-195-3p (MIRT192762)
- hsa-miR-383-3p (MIRT192771)
- hsa-miR-340-5p (MIRT192772)
- hsa-miR-888-5p (MIRT192773)
- hsa-miR-3973 (MIRT192775)
- hsa-miR-96-3p (MIRT342414)
- hsa-miR-5694 (MIRT342419)
- hsa-miR-4263 (MIRT380548)
- hsa-miR-4524a-3p (MIRT395128)
- hsa-miR-380-3p (MIRT481105)
- hsa-miR-411-3p (MIRT481106)
- hsa-miR-379-3p (MIRT481107)
- hsa-miR-139-3p (MIRT481108)
- hsa-miR-520h (MIRT481109)
- hsa-miR-520g-3p (MIRT481110)
- hsa-miR-4802-3p (MIRT481111)
- hsa-miR-186-5p (MIRT481112)
- hsa-miR-3133 (MIRT481113)
- hsa-miR-5010-3p (MIRT481114)
- hsa-miR-595 (MIRT481115)
- mmu-miR-466c-5p (MIRT595724)
- mmu-miR-466b-5p (MIRT595725)
- mmu-miR-466o-5p (MIRT595726)
- mmu-miR-511-3p (MIRT595727)
- mmu-miR-1904 (MIRT595728)
- mmu-miR-544-3p (MIRT595729)
- mmu-miR-568 (MIRT595730)
- mmu-miR-876-5p (MIRT595731)
- hsa-miR-4804-3p (MIRT772569)
- hsa-miR-501-3p (MIRT773013)
- hsa-miR-502-3p (MIRT773020)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B2M
- Browse OriGene Inhibitory RNA Products For B2M
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B2M
Clone Products
- Applied Biological Materials (abm): Clones for B2M - Select products 50% OFF >
- * B2M as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for B2M
- Addgene plasmids for B2M
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B2M
Cell Line Products
-
Horizon Cell Lines for B2M
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for B2M Gene
Localization for B2M Gene
Subcellular locations from UniProtKB/Swiss-Prot for B2M Gene
- Secreted. Cell surface. Note=Detected in serum and urine (PubMed:1336137, PubMed:7554280). {ECO:0000269 PubMed:7554280, ECO:0000269 Ref.6}.
- Note=(Microbial infection) In the presence of M.tuberculosis EsxA-EsxB complex decreased amounts of B2M are found on the cell surface (PubMed:25356553). .
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| endosome | 4 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| nucleus | 3 |
| lysosome | 2 |
| peroxisome | 1 |
- Cytosol (4)
- Golgi apparatus (4)
- Plasma membrane (4)
| 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 | -- |
Pathways & Interactions for B2M Gene
| 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 | ||
Pathways by source for B2M Gene
3 BioSystems pathways for B2M Gene
24 Reactome pathways for B2M Gene
1 GeneGo (Thomson Reuters) pathway for B2M Gene
- Immune response Antigen presentation by MHC class I
1 Cell Signaling Technology pathway for B2M Gene
| 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 | -- |
Drugs & Compounds for B2M Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for B2M Gene
mRNA/cDNA for B2M Gene
- 1 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000559720 1220 nts (view in UCSC)
- ENST00000561424 604 nts (view in UCSC)
- ENST00000559916 1081 nts (view in UCSC)
- ENST00000349264 732 nts (view in UCSC)
- ENST00000648006 1675 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B2M - Select products 50% OFF >
- * B2M CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for B2M
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B2M
-
Santa Cruz Biotechnology (SCBT) CRISPR for B2M
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B2M
- Browse OriGene Inhibitory RNA Products For B2M
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B2M
Clone Products
- Applied Biological Materials (abm): Clones for B2M - Select products 50% OFF >
- * B2M as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for B2M
- Addgene plasmids for B2M
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B2M
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||
| SP2: | - | - | - | - | |||||||||
| SP3: | - | ||||||||||||
| SP4: | - |
Relevant External Links for B2M Gene
- GeneLoc Exon Structure for
- B2M
Expression for B2M Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for B2M Gene
This gene is overexpressed in Whole Blood (x8.3).
This gene is overexpressed in Cerebrospinal fluid (10.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B2M Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B2M
SOURCE GeneReport for Unigene cluster for B2M Gene:
Hs.534255Evidence on tissue expression from TISSUES for B2M Gene
- Blood(5)
- Liver(5)
- Lung(5)
- Pancreas(5)
- Spleen(5)
- Skin(4.9)
- Nervous system(4.9)
- Intestine(4.9)
- Bone marrow(4.9)
- Lymph node(4.9)
- Eye(4.9)
- Stomach(4.8)
- Kidney(4.7)
- Urine(4.7)
- Bone(4.7)
- Heart(4.2)
- Muscle(4.1)
- Thyroid gland(4)
- Adrenal gland(4)
- Gall bladder(3.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for B2M Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
- middle ear
- mouth
- nose
- pharynx
- sinus
- skull
Thorax:
- bronchus
- heart
- lung
Limb:
- arm
- forearm
- radius
- ulna
- upper limb
General:
- blood
- blood vessel
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for B2M
-
OriGene qPCR primer pairs and template standards for B2M
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for B2M Gene
Orthologs for B2M Gene
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 |
- Species where no ortholog for B2M was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for B2M Gene
- ENSEMBL:
- Gene Tree for B2M (if available)
- TreeFam:
- Gene Tree for B2M (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B2M: view image
Paralogs for B2M Gene
Paralogs for B2M Gene
(138) SIMAP similar genes for B2M Gene using alignment to 6 proteins:
- B2MG_HUMAN
- F5H6I0_HUMAN
- H0YLF3_HUMAN
- J3KNU0_HUMAN
- K7N5M3_HUMAN
- K7N5M4_HUMAN
- Tcr-alpha
- TCRBV11S1A1T
- beta 2-microglobulin
- TRAC
- TRBC2
- TRBC1
- TRA@
- TCRBV13S3
- TCRBV12S2A1T
- TCRBV12S2
- TCRBV15S1
- TCRBV13S9/13S2A1T
- TCRBV13S2A1T
- TCRBV13S2
- hADV36S1
- TCRBV14S1
- TCRBV13S6A2T
- TCRBV13S1
- TCRBV12S3
- BV13S3J2.6
- TCRBV12S1A1N2
- BV13S6J2.1
- BV13S1J2.7
- TCRBV13S5
- TCRBV3S1
- TCRBV17S1A1T
- T-Cell Receptor V-alpha region
- BV13S1J2.2
- V2-6
- hADV23S1
- BV17S1J1.2
- BV05S1J2.1
- V2-1
- V1-22
- hADV38S2
- hADV29S1
- BV03S1J2.2
- hADV14S1
- VL6
- V2-14
- TCRBV7S2A1N4T
- TCRA
- IGLV
- BV17S1J2.1
- HuC4lambda Vlambda
- BV05S1J2.2
- BV17S1J1.1
- V2-13
- TCRBV1S1A1N1
- IGLV3-19
- IGKC
- BV17S1J2.7
- DQ-A1
- HLA-DPB1
- TCR
- HLA-DPB
- VL4
- V1-19
- TCRBV7S3A2
- TCRBV5S1A1T
- TCRBV22S1A2N1T
- IGLV2-23
- IGLC7
- IGLC6
- HLA-DRB4*0102
- C1 segment
- HLA-DQB1*05
- HLA-DQ3
- HLA-DQA1
- hDV101S1
- IGLV3-25
- IGLC2
- IGL@
- DKFZp667J0810
- BV06S7J2.1
- HLA-DQB1*06x
- HLA-DP
- HLA-DQB
- HLA-F
- HLA-DQB1
- HLQ-DQB1
- V1-4
- TRBV12-3
- TCRBV8S2A1T
- BV20S1J2.7
- BV06S7J2.2
- HLA-DRB5
- HLA-DQB2
- HLA-DQ
- HLA DQB1
- HLA-DPA1
- HLA DRB4
- HLA-DR
- HLA-DQ-beta
- HLA-DRB3
- HLA-DRB4
- TCRBV6S4A1
- TCRBV6S3A1N1T
- TCRBV5S6A3N2T
- TCRBV5S4A2T
- TCRBV24S1A3T
- TCRBV23S1A2T
- HLA-Dw12
- HLA-DRw12
- HLA-DRB2
- HLA-DR-beta1
- HLA-DR-beta 1
- HLA-DQB1/DRB1
- HLA-DQA2
- HLA-D
- HLA-DRB1
- DRB1
- TCRBV9S1A1T
- TCRBV7S1A1N2T
- TCRBV6S8A2T
- TCRBV5S2
- TCRBV21S2A2
- TCRBV20S1A1N2
- TCRBV16S1A1N1
- TCRB
- CD1A
- HLA-C
- BV08S1J2.7
- HLA-DMB
- V1-17
- TCRBV6S6A2T
- TCRBV5S3A2T
- IGLV5-37
- IGLV2-18
- BV18S1J1.5
- HLA-DOA
- HLA-DOB
- HLA-B
- HLA-A
- VH
- TCRBV6S2A1N1T
- IGK@
- BV07S1J2.7
Variants for B2M Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B2M Gene
| 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 |
Residual Variation Intolerance Score:
44.4% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B2M Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B2M Gene
Disorders for B2M Gene
(132) MalaCards diseases for B2M Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 43 |
|
|
| amyloidosis, familial visceral |
|
|
| variant abeta2m amyloidosis |
|
|
| immunodeficiency by defective expression of mhc class i |
|
|
| lymphoma, non-hodgkin, familial |
|
Search B2M in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B2MG_HUMAN- 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 mutations affecting the gene represented in this entry.
- Amyloidosis 8 (AMYL8) [MIM:105200]: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. {ECO:0000269 PubMed:22693999}. Note=The disease is caused by mutations affecting the gene represented in this entry. Apart from the presence of causative mutations, beta-2-microglobulin may adopt the fibrillar configuration of amyloid when its serum levels are persistently high. High beta(2)-microglobulin serum levels result in amyloidosis 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}.
Genatlas disease for B2M Gene
amyloidosis,hemodialysis-related (B2M deposit)
Additional Disease Information for B2M
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for B2M Gene
- The ESAT-6 protein of Mycobacterium tuberculosis interacts with beta-2-microglobulin (β2M) affecting antigen presentation function of macrophage. (PMID: 25356553) Sreejit G … Mukhopadhyay S (PLoS pathogens 2014) 3 4
- Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. (PMID: 22693999) Valleix S … Bellotti V (The New England journal of medicine 2012) 3 4
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation. (PMID: 19284997) Ricagno S … Bolognesi M (Biochemical and biophysical research communications 2009) 3 4
- Identification of beta2-microglobulin as a potential target for ovarian cancer. (PMID: 19829086) Yang HS … Peng F (Cancer biology & therapy 2009) 3 23
ExternalLinks
Products for B2M Gene
- View all 29 R&D Systems B2M (beta 2-Microglobulin) Products
- View all 25 R&D Systems B2M (beta 2-Microglobulin) Primary Antibodies
- View all 2 R&D Systems B2M (beta 2-Microglobulin) ELISAs
- View all R&D Systems B2M (beta 2-Microglobulin) Luminex Assays
- View all R&D Systems B2M (beta 2-Microglobulin) Proteome Profiler Antibody Arrays
- Learn more about R&D Systems custom B2M antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for B2M
- AM02302PU-N
- AM02303PU-N
- AM09263PU-N
- AM09264PU-N
- AM09265PU-N
- AM09266HR-N
- AM20523PU-N
- AP12414PU-N
- AP12415PU-N
- AP31732PU-N
- AP31992PU-N
- BM2145
- BM603
- BM604B
- BM604F
- BM604HRP
- BM604PE
- BM604S
- CF802776
- CF803617
- DDX0060P-100
- R1065BS
- R1065HRP
- R1065HRPS
- SM1707
- SM1707PS
- SM3150B
- SM3150P
- TA311281
- TA318002
- TA318043
- TA319173
- TA319617
- TA321615
- TA321616
- TA327075
- TA352992L
- TA802776
- TA802776JM
- TA802776S
- TA803617
- TA803617S
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for B2M
- Origene Custom Protein Services for B2M
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B2M
- Browse OriGene Inhibitory RNA Products For B2M
- OriGene qPCR primer pairs for B2M
- OriGene qPCR primer pairs and template standards for B2M
- OriGene CRISPR knockouts for B2M
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For B2M
- Sino Biological Human cDNA Clone for B2M
- Sino Biological Recombinant Proteins for B2M
- Sino Biological Cell Lysates for B2M
- Sino Biological Antibodies for B2M
- Sino Biological Assays for B2M
- Browse Recombinant Proteins
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for B2M
- Novus Biologicals proteins and lysates for B2M
- Novus Biologicals ELISA Kits for B2M
- Browse Antibodies
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- Abcam antibodies for B2M
- Abcam proteins for B2M
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- ProSpec Recombinant Proteins for B2M
- Taconic Biosciences Mouse Models for B2M
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for B2M (AFLGC-B2m)
- VectorBuilder Custom and pre-made DNA vectors for B2M (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for B2M (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for B2M (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for B2M CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for B2M
- Addgene plasmids for B2M
- antibodies-online: Show 188 available beta-2 Microglobulin Antibodies ranked by validation data
- Compare Top beta-2 Microglobulin Antibodies
- Recommended
- 262 WB Antibodies (anti-human)
- 103 IHC (p) Antibodies (anti-human)
- 70 FACS Antibodies (anti-human)
- 70 IF Antibodies (anti-human)
- 43 IHC (f) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 13 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 EIA Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 3 RIA Antibodies (anti-human)
- 2 IEP Antibodies (anti-human)