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 Hypoproteinemia, Hypercatabolic and Variant Abeta2m Amyloidosis. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters. GO annotations related to this gene include identical protein binding.
UniProtKB/Swiss-Prot 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).
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B2M Gene
Genomics for B2M Gene
Regulatory Elements for B2M Gene
Enhancers for B2M Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around B2M on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the B2M gene promoter:
Regulatory Element Products
Genomic Location for B2M Gene
- Chromosome:
- 15
- Start:
- 44,711,477 bp from pter
- End:
- 44,718,877 bp from pter
- 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 Ensembl
- 15q21.1 by Entrez Gene
- 15q21.1 by HGNC
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).
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, posLast=3939, posLast=6161, posLast=6868, posLast=7878, posLast=106106, posLast=111111, and Lys114
- Modification sites at PhosphoSitePlus
Other Protein References for B2M Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for B2M
- R&D Systems Antibodies for B2M (beta 2-Microglobulin)
- Cell Signaling Technology (CST) Antibodies for B2M (B2M)
-
Custom Antibody ServicesOriGene Antibodies for B2M
- TA802776JM
- TA802776HM
- TA802776GM
- TA802776FM
- TA802776EM
- TA802776DM
- TA802776CM
- TA802776BM
- TA802776AM
- CF803617
- TA803617
- CF802776
- TA802776
- TA590171
- TA352992
- TA327075
- TA321616
- TA321615
- TA319617
- TA319173
- TA319172
- TA318043
- TA318002
- TA311281
- SM3150P
- SM3150B
- R1065HRPS
- R1065HRP
- R1065BS
- BM604S
- BM604PE
- BM604HRP
- BM604F
- BM604B
- BM604
- BM603
- BM2145
- AP31992PU-N
- AP31732PU-N
- AP12415PU-N
- AP12414PU-N
- AP07548PU-N
- AM20523PU-N
- AM09266HR-N
- AM09265PU-N
- AM09264PU-N
- AM09263PU-N
- AM08384PU-N
- AM08319PU-N
- AM02303PU-N
- AM02302PU-N
- Novus Biologicals Antibodies for B2M
-
Abcam antibodies for B2M
-
Cloud-Clone Corp. Antibodies for B2M
- Invitrogen Antibodies for B2M
- antibodies-online Antibodies for B2M: See all 447
- GeneTex B2M antibody for B2M
-
Custom Antibody ServicesProSci Antibodies for B2M
-
Santa Cruz Biotechnology (SCBT) Antibodies for B2M
Protein Products
- Enzo Life Sciences proteins for B2M
- Search Origene for MassSpec and Protein Over-expression Lysates for B2M
- Origene Custom Protein Services for B2M
- Sino Biological Cell Lysates for B2M
- Sino Biological Recombinant Proteins for B2M
- ProSpec Recombinant Proteins for B2M
-
Cloud-Clone Corp. Proteins for B2M
- antibodies-online Proteins for B2M: See all 132
- Search antibodies-online for peptides
- Search GeneTex for Proteins for B2M
-
Abcam proteins for B2M
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays, Luminex Assays, ELISAs, and other biochemical assays for B2M (beta 2-Microglobulin)
- antibodies-online Kits for B2M: See all 69
-
Abcam assays for B2M
No data available for DME Specific Peptides for B2M Gene
Domains & Families for B2M Gene
Gene Families for B2M Gene
Protein Domains for B2M Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for B2M Gene
- GenScript: Design optimal peptide antigens:
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
- GENATLAS Biochemistry:
- microglobulin,beta-2 mutated in any tumoral cells (with loss of HLA class 1 antigen)
- 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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001948 | glycoprotein binding | IPI | 9465039 |
| GO:0005515 | protein binding | IPI | 10638746 |
| GO:0042802 | identical protein binding | IPI | 21569201 |
Phenotypes for B2M Gene
- MGI mutant phenotypes for B2M:
-
inferred from 2 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for B2M:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased viability ratio
- Resistant to vaccinia virus (VACV-A4L) infection
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
Animal Model Products
- Cyagen custom Knockout/knockin (KOKI) mouse models for B2M
-
-
ViGene Biosciences lentiviral particle packaged cDNA for B2M gene
-
ViGene Biosciences ready-to-package AAV shRNAs for B2M gene
- Search ViGene Biosciences for B2M
CRISPR Products
-
OriGene CRISPR knockouts for B2M
-
Santa Cruz Biotechnology (SCBT) CRISPR for B2M
- GenScript: Design CRISPR guide RNA sequences for B2M
miRNA for B2M Gene
- miRTarBase miRNAs that target B2M
-
- 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)
miRNA Products
- Search ViGene Biosciences for B2M
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for B2M
- Browse OriGene Inhibitory RNA Products For B2M
-
ViGene Biosciences ready-to-package AAV shRNAs for B2M gene
Clone Products
- Sino Biological Human cDNA Clone for B2M
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for B2M
- VectorBuilder custom plasmid, inducible vectors for B2M
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for B2M
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for B2M
-
ViGene Biosciences adenoviral particle packaged cDNA for B2M gene
-
ViGene Biosciences lentiviral particle packaged cDNA for B2M gene
-
ViGene Biosciences ready-to-package AAV shRNAs for B2M gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10611 VA4-13460 VA6-11782 VF4-13287) 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 | 5 |
| cytoskeleton | 2 |
| nucleus | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005576 | extracellular region | TAS,IEA | -- |
| GO:0005615 | extracellular space | IDA | 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 | ||
| 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 | Class I MHC mediated antigen processing and presentation | ||
Pathways by source for B2M Gene
1 Cell Signaling Technology pathway for B2M Gene
3 BioSystems pathways for B2M Gene
1 KEGG pathway for B2M Gene
1 GeneGo (Thomson Reuters) pathway for B2M Gene
Interacting Proteins for B2M Gene
Selected Interacting proteins:
P61769-B2MG_HUMAN
ENSP00000452780
for B2M Gene via
IID
STRING
UniProtKB
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001895 | retina homeostasis | IEP | 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 | -- |
No data available for SIGNOR curated interactions for B2M Gene
Drugs & Compounds for B2M Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for B2M Gene
mRNA/cDNA for B2M Gene
- (2) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (5611) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for B2M
-
Santa Cruz Biotechnology (SCBT) CRISPR for B2M
- GenScript: Design CRISPR guide RNA sequences for B2M
miRNA Products
- Search ViGene Biosciences for B2M
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for B2M
- Browse OriGene Inhibitory RNA Products For B2M
-
ViGene Biosciences ready-to-package AAV shRNAs for B2M gene
Clone Products
- Sino Biological Human cDNA Clone for B2M
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for B2M
- VectorBuilder custom plasmid, inducible vectors for B2M
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for B2M
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10611 VA4-13460 VA6-11782 VF4-13287) for B2M
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||
| SP2: | - | - | - | - | |||||||||
| SP3: | - | ||||||||||||
| SP4: | - |
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, PaxDb, and MOPED for B2M Gene
NURSA nuclear receptor signaling pathways regulating expression of B2M Gene:
B2MSOURCE GeneReport for Unigene cluster for B2M Gene:
Hs.534255Evidence on tissue expression from TISSUES for B2M Gene
- Blood(5)
- Liver(5)
- Lung(5)
- Intestine(4.9)
- Pancreas(4.9)
- Skin(4.9)
- Spleen(4.9)
- Nervous system(4.9)
- Bone marrow(4.8)
- Eye(4.8)
- Lymph node(4.8)
- Stomach(4.8)
- Kidney(4.7)
- Urine(4.7)
- Bone(4.5)
- Heart(3.8)
- Muscle(3.7)
- Thyroid gland(3.7)
- Adrenal gland(3.6)
- Gall bladder(3.4)
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
Organs:
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
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 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | B2M 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | B2M 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | B2m 34 |
|
||
| mouse (Mus musculus) |
Mammalia | B2m 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | B2M 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| B2M 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | B2M 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| zebrafish (Danio rerio) |
Actinopterygii | b2ml 34 35 |
|
||
| b2m 35 |
|
OneToMany | |||
| B2M (3 of 3) 35 |
|
OneToMany |
- Species where no ortholog for B2M was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for B2M Gene
(138) SIMAP similar genes for B2M Gene using alignment to 6 proteins:
- 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
No data available for Paralogs for B2M Gene
Variants for B2M Gene
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104894481 | Pathogenic, Immunodeficiency 43 (IMD43) [MIM:241600] | 44,711,577(+) | TGCTC(C/G/T)CGCTA | upstream-variant-2KB, reference, missense | |
| rs398122820 | Pathogenic, Amyloidosis 8 (AMYL8) [MIM:105200] | 44,715,641(+) | AAAAA(A/G)ATGAG | reference, missense | |
| rs863225287 | Pathogenic | 44,711,614(+) | CCAGC(G/T)TGAGT | upstream-variant-2KB, splice-donor-variant | |
| rs1000219847 | -- | 44,712,011(+) | AGGCG(C/T)GGCGC | intron-variant, upstream-variant-2KB | |
| rs1000272307 | -- | 44,711,761(+) | TCTCG(C/G)GGAAG | intron-variant, upstream-variant-2KB |
| 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)
Relevant External Links for B2M Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B2M Gene
Disorders for B2M Gene
(100) MalaCards diseases for B2M Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoproteinemia, hypercatabolic |
|
|
| variant abeta2m amyloidosis |
|
|
| amyloidosis, familial visceral |
|
|
| immunodeficiency by defective expression of hla class 1 |
|
|
| urinary system disease |
|
Search B2M in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B2MG_HUMAN- 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}.
- 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.
Genatlas disease for B2M Gene
amyloidosis,hemodialysis-related (B2M deposit)
Relevant External Links for B2M
Publications for B2M Gene
- The ESAT-6 protein of Mycobacterium tuberculosis interacts with beta-2-microglobulin (I^2M) affecting antigen presentation function of macrophage. (PMID: 25356553) Sreejit G. … Mukhopadhyay S. (PLoS Pathog. 2014) 3 4 64
- Hereditary systemic amyloidosis due to Asp76Asn variant I^2-microglobulin. (PMID: 22693999) Valleix S. … Bellotti V. (N. Engl. J. Med. 2012) 3 4 64
- 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation. (PMID: 19284997) Ricagno S. … Bolognesi M. (Biochem. Biophys. Res. Commun. 2009) 3 4 64
- Identification of beta2-microglobulin as a potential target for ovarian cancer. (PMID: 19829086) Yang H.S. … Peng F. (Cancer Biol. Ther. 2009) 3 22 64
Products for B2M Gene
- R&D Systems Antibodies for B2M (beta 2-Microglobulin)
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- ViGene Biosciences adenoviral particle packaged cDNA for B2M gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for B2M
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for B2M Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (50) eBioscience
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- (52) Cell Signaling Technology
- (53) GenBank
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
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- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
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