ENSG00000166710


Homo sapiens

Features
Gene ID: ENSG00000166710
  
Biological name :B2M
  
Synonyms : B2M / beta-2-microglobulin / P61769
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q21.1
Gene start: 44711477
Gene end: 44718877
  
Corresponding Affymetrix probe sets: 201891_s_at (Human Genome U133 Plus 2.0 Array)   216231_s_at (Human Genome U133 Plus 2.0 Array)   232311_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453191
Ensembl peptide - ENSP00000453350
Ensembl peptide - ENSP00000340858
Ensembl peptide - ENSP00000437604
Ensembl peptide - ENSP00000452780
Ensembl peptide - ENSP00000452861
Ensembl peptide - ENSP00000453186
NCBI entrez gene - 567     See in Manteia.
OMIM - 109700
RefSeq - NM_004048
RefSeq - XM_005254549
RefSeq Peptide - NP_004039
swissprot - J3KNU0
swissprot - F5H6I0
swissprot - P61769
swissprot - Q16446
swissprot - H0YLF3
Ensembl - ENSG00000166710
  
Related genetic diseases (OMIM): 105200 - ?Amyloidosis, familial visceral, 105200
  241600 - Immunodeficiency 43, 241600
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 b2mENSDARG00000053136Danio rerio
 b2mlENSDARG00000015887Danio rerio
 zmp:0000001138ENSDARG00000071168Danio rerio
 B2MENSGALG00000002160Gallus gallus
 B2mENSMUSG00000060802Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003006  Immunoglobulin/major histocompatibility complex, conserved site
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR013783  Immunoglobulin-like fold
 IPR015707  Beta-2-Microglobulin
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis HEP
 biological_processGO:0001916 positive regulation of T cell mediated cytotoxicity IEA
 biological_processGO:0002237 response to molecule of bacterial origin IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
 biological_processGO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IEA
 biological_processGO:0002726 positive regulation of T cell cytokine production IDA
 biological_processGO:0006826 iron ion transport IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I IGI
 biological_processGO:0032092 positive regulation of protein binding IGI
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0033216 ferric iron import IEA
 biological_processGO:0042026 protein refolding IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045646 regulation of erythrocyte differentiation IEA
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IGI
 biological_processGO:0050690 regulation of defense response to virus by virus TAS
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0055072 iron ion homeostasis IC
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0071281 cellular response to iron ion IGI
 biological_processGO:0071283 cellular response to iron(III) ion IEA
 biological_processGO:1900121 negative regulation of receptor binding IDA
 biological_processGO:1900122 positive regulation of receptor binding IGI
 biological_processGO:1900390 regulation of iron ion import IGI
 biological_processGO:1904434 positive regulation of ferrous iron binding IGI
 biological_processGO:1904437 positive regulation of transferrin receptor binding IGI
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0031901 early endosome membrane TAS
 cellular_componentGO:0031905 early endosome lumen TAS
 cellular_componentGO:0035580 specific granule lumen TAS
 cellular_componentGO:0042612 MHC class I protein complex IEA
 cellular_componentGO:0055038 recycling endosome membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1990712 HFE-transferrin receptor complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Endosomal/Vacuolar pathway
Nef mediated downregulation of MHC class I complex cell surface expression
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
DAP12 signaling
Neutrophil degranulation
Interferon gamma signaling
Amyloid fiber formation
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000093 Proteinuria 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0000988 Skin rash 
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 HP:0001097 Keratoconjunctivitis sicca "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators]
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 HP:0001396 Cholestasis 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0002024 Malabsorption 
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 HP:0002028 Chronic diarrhea 
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002254 Intermittent diarrhea 
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 HP:0002271 Autonomic dysregulation 
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0002579 Gastrointestinal dysmotility 
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 HP:0002607 Bowel incontinence 
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 HP:0002986 Radial bowing 
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 HP:0003022 Hypoplasia of the ulna "Underdevelopment of the ulna." [HPO:curators]
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003075 Hypoproteinemia 
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 HP:0003216 Generalized amyloid deposition 
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 HP:0003828 Variable expressivity 
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0004926 Orthostatic hypotension due to autonomic dysfunction 
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 HP:0005341 Abnormal bladder regulation due to autonomic dysfunction 
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 HP:0007267 Emg shows chronic axonal neuropathy 
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 HP:0012450 Chronic constipation "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex / reaction
 ENSG00000129354 AP1M2 / Q9Y6Q5 / adaptor related protein complex 1 mu 2 subunit  / complex / reaction
 ENSG00000117281 CD160 / O95971 / CD160 molecule  / complex / reaction
 ENSG00000138802 O95487 / SEC24B / SEC24 homolog B, COPII coat complex component  / complex / reaction
 ENSG00000138674 O94979 / SEC31A / SEC31 homolog A, COPII coat complex component  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000011600 O43914 / TYROBP / TYRO protein tyrosine kinase binding protein  / complex / reaction
 ENSG00000167004 PDIA3 / P30101 / protein disulfide isomerase family A member 3  / complex / reaction
 ENSG00000158477 CD1A / P06126 / CD1a molecule  / complex
 ENSG00000072958 AP1M1 / Q9BXS5 / adaptor related protein complex 1 mu 1 subunit  / complex / reaction
 ENSG00000153563 CD8A / P01732 / CD8a molecule  / complex / reaction
 ENSG00000240403 P43630 / KIR3DL2 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000167286 CD3D / P04234 / CD3d molecule  / complex / reaction
 ENSG00000125498 P43626 / KIR2DL1 / killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1  / complex / reaction
 ENSG00000100934 Q15436 / SEC23A / Sec23 homolog A, coat complex II component  / complex / reaction
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000150961 O94855 / SEC24D / SEC24 homolog D, COPII coat complex component  / complex / reaction
 ENSG00000166747 AP1G1 / O43747 / adaptor related protein complex 1 gamma 1 subunit  / complex / reaction
 ENSG00000152056 AP1S3 / Q96PC3 / adaptor related protein complex 1 sigma 3 subunit  / complex / reaction
 ENSG00000182287 AP1S2 / P56377 / adaptor related protein complex 1 sigma 2 subunit  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000100280 AP1B1 / Q10567 / adaptor related protein complex 1 beta 1 subunit  / complex / reaction
 ENSG00000157020 SEC13 / P55735 / SEC13 homolog, nuclear pore and COPII coat complex component  / complex / reaction
 ENSG00000175115 PACS1 / Q6VY07 / phosphofurin acidic cluster sorting protein 1  / complex / reaction
 ENSG00000176986 P53992 / SEC24C / SEC24 homolog C, COPII coat complex component  / complex / reaction
 ENSG00000134539 KLRD1 / Q13241 / killer cell lectin like receptor D1  / complex / reaction
 ENSG00000167633 P43629 / KIR3DL1 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1  / complex / reaction
 ENSG00000113615 O95486 / SEC24A / SEC24 homolog A, COPII coat complex component  / complex / reaction
 ENSG00000106367 AP1S1 / P61966 / adaptor related protein complex 1 sigma 1 subunit  / complex / reaction
 ENSG00000172116 CD8B / P10966 / CD8b molecule  / complex / reaction
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / complex / reaction
 ENSG00000189013 Q99706 / KIR2DL4 / killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4  / complex / reaction
 ENSG00000134545 KLRC1 / P26715 / killer cell lectin like receptor C1  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000113441 LNPEP / Q9UIQ6 / leucyl and cystinyl aminopeptidase  / complex
 ENSG00000104974 LILRA1 / O75019 / leukocyte immunoglobulin like receptor A1  / complex / reaction
 ENSG00000127022 CANX / P27824 / calnexin  / reaction
 ENSG00000243772 P43628 / KIR2DL3 / killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3  / complex / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000131042 LILRB2 / Q8N423 / leukocyte immunoglobulin like receptor B2  / complex / reaction
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / - / complex / reaction
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / complex / reaction
 ENSG00000185825 BCAP31 / P51572 / B cell receptor associated protein 31  / complex
 ENSG00000158473 CD1D / P15813 / CD1d molecule  / complex
 ENSG00000158485 CD1B / P29016 / CD1b molecule  / complex
 ENSG00000158481 CD1C / P29017 / CD1c molecule  / complex
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000206503 HLA-A / P04439 / P13746 / P16188 / major histocompatibility complex, class I, A  / complex
 ENSG00000211799 TRAV19 / T cell receptor alpha variable 19  / complex / reaction
 ENSG00000152700 SAR1B / Q9Y6B6 / secretion associated Ras related GTPase 1B  / complex / reaction
 ENSG00000204632 HLA-G / P17693 / major histocompatibility complex, class I, G  / complex
 ENSG00000205809 KLRC2 / P26717 / killer cell lectin like receptor C2  / complex






 

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