Human Gene B2M (uc010uek.1) Description and Page Index
  Description: Homo sapiens beta-2-microglobulin (B2M), mRNA.
RefSeq Summary (NM_004048): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.89046.1, SRR1803614.167326.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## Protein has antimicrobial activity :: PMID: 23144825 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr15:45,003,685-45,008,550 Size: 4,866 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr15:45,003,745-45,007,922 Size: 4,178 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:45,003,685-45,008,550)mRNA (may differ from genome)Protein (122 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F5H6I0_HUMAN
DESCRIPTION: SubName: Full=Beta-2-microglobulin form pI 5.3;
FUNCTION: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system (By similarity).
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): B2M
CDC HuGE Published Literature: B2M

-  MalaCards Disease Associations
  MalaCards Gene Search: B2M
Diseases sorted by gene-association score: amyloidosis, familial visceral* (1250), immunodeficiency 43* (1228), variant abeta2m amyloidosis* (350), immunodeficiency by defective expression of hla class 1* (175), urinary system disease (28), amyloidosis (26), balkan nephropathy (24), extramedullary plasmacytoma (22), amyloid tumor (22), chronic pyelonephritis (22), carpal tunnel syndrome, familial (19), renal tuberculosis (18), tuberculosis (18), mercury poisoning (18), complication in hemodialysis (17), uremic neuropathy (15), acquired immunodeficiency syndrome (15), peritonitis (14), uremia (13), kidney disease (13), post-transplant lymphoproliferative disease (13), fmr1-related disorders (12), chronic kidney failure (12), acute kidney failure (12), hemoglobinemia (12), arthropathy (11), non-secretory myeloma (11), nerve compression syndrome (10), intravascular large b-cell lymphoma (10), nasal cavity lymphoma (10), hemorrhagic fever with renal syndrome (10), hemochromatosis (10), indolent myeloma (10), hydronephrosis (10), pleural tuberculosis (10), nephrotic syndrome (10), adenoid basal cell carcinoma (10), plasmacytoma (10), aids dementia complex (10), spondylarthropathy (9), paget's disease of bone (9), hereditary amyloidosis (8), solitary osseous plasmacytoma (8), cutaneous adenocystic carcinoma (8), meningoencephalitis (8), sjogren's syndrome (7), thalassemia minor (7), pyelitis (7), urinary tract obstruction (6), non-gestational choriocarcinoma (6), oral candidiasis (6), inner ear disease (6), fanconi-like syndrome (6), sclerosing keratitis (6), amyloidosis aa (6), periarthritis (6), plasma cell neoplasm (6), monoclonal gammopathy of uncertain significance (6), median rhomboid glossitis (6), prostate squamous cell carcinoma (6), human immunodeficiency virus infectious disease (5), tibial neuropathy (5), tarsal tunnel syndrome (5), von economo's disease (5), orthostatic proteinuria (5), lymphoma, non-hodgkin (5), retinitis pigmentosa 7 and digenic (5), hemorrhagic fever (5), meningeal melanomatosis (5), oculogyric crisis (5), mature b-cell neoplasm (5), diffuse glomerulonephritis (5), reticulosarcoma (4), functional colonic disease (4), aminoaciduria (4), macroglossia (4), b-cell expansion with nfkb and t-cell anergy (4), myopathy, x-linked, with excessive autophagy (4), acute kidney tubular necrosis (4), ovarian cystic teratoma (4), cecum adenocarcinoma (4), colonic pseudo-obstruction (4), chronic lymphocytic leukemia (4), punctate epithelial keratoconjunctivitis (4), anterior scleritis (4), cloacogenic carcinoma (4), small intestine lymphoma (3), vernal conjunctivitis (3), multiple myeloma (3), hemophagocytic lymphohistiocytosis (2), diabetes mellitus, insulin-dependent (2), renal cell carcinoma (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1653.67 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 22144.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.4060-0.273 Picture PostScript Text
3' UTR -187.42628-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015707 - B2Microglobulin
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003597 - Ig_C1-set

Pfam Domains:
PF07654 - Immunoglobulin C1-set domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on F5H6I0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002376 immune system process
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0006955 immune response

Cellular Component:
GO:0005576 extracellular region
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0042612 MHC class I protein complex


-  Descriptions from all associated GenBank mRNAs
  AF072097 - Homo sapiens beta-2 microglobulin mRNA, complete cds.
AK315776 - Homo sapiens cDNA, FLJ96890, Homo sapiens beta-2-microglobulin (B2M), mRNA.
AK303560 - Homo sapiens cDNA FLJ57067 complete cds, highly similar to Beta-2-microglobulin precursor.
S82297 - beta 2-microglobulin {11bp deleted between nucleotides 98-99} [human, colon cancer cell line HCT, mRNA Mutant, 416 nt].
S82300 - beta 2-microglobulin {C to A point mutation at nucleotide 121} [human, colon cancer cell line HCT, mRNA Mutant, 427 nt].
S54761 - beta 2- mu =beta 2-microglobulin [human, SK-MEL-33 cells, mRNA Mutant, 433 nt].
BC032589 - Homo sapiens beta-2-microglobulin, mRNA (cDNA clone MGC:45276 IMAGE:5502428), complete cds.
BC064910 - Homo sapiens beta-2-microglobulin, mRNA (cDNA clone MGC:70796 IMAGE:6055473), complete cds.
X07621 - Human mutant (Daudi) beta2 - microglobulin mRNA.
AY007153 - Homo sapiens clone CDABP0092 mRNA sequence.
AB021288 - Homo sapiens mRNA for beta 2-microglobulin, complete cds.
CR457066 - Homo sapiens full open reading frame cDNA clone RZPDo834B107D for gene B2M, beta-2-microglobulin; complete cds, incl. stopcodon.
AB463439 - Synthetic construct DNA, clone: pF1KB6777, Homo sapiens B2M gene for beta-2-microglobulin, without stop codon, in Flexi system.
AY187687 - Homo sapiens beta-2-microglobulin precursor, mRNA, complete cds.
DQ839493 - Homo sapiens clone BFC06113 beta-2-microglobulin precursor mRNA, complete cds.
DQ839494 - Homo sapiens clone BFC06014 beta-2-microglobulin precursor mRNA, complete cds.
DQ884406 - Homo sapiens clone BFC06043 beta-2-microglobulin precursor mRNA, complete cds.
DQ890551 - Synthetic construct clone IMAGE:100003181; FLH166536.01X; RZPDo839A0288D beta-2-microglobulin (B2M) gene, encodes complete protein.
DQ893711 - Synthetic construct Homo sapiens clone IMAGE:100008171; FLH166532.01L; RZPDo839A0287D beta-2-microglobulin (B2M) gene, encodes complete protein.
KJ890750 - Synthetic construct Homo sapiens clone ccsbBroadEn_00144 B2M gene, encodes complete protein.
KR710896 - Synthetic construct Homo sapiens clone CCSBHm_00017962 B2M (B2M) mRNA, encodes complete protein.
V00567 - Human messenger RNA fragment for the beta-2 microglobulin.
AK026463 - Homo sapiens cDNA: FLJ22810 fis, clone KAIA2933, highly similar to AB021288 Homo sapiens mRNA for beta 2-microglobulin.
MA868167 - JP 2018536436-A/3: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868168 - JP 2018536436-A/4: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868169 - JP 2018536436-A/5: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873657 - JP 2018536436-A/5493: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873658 - JP 2018536436-A/5494: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868170 - JP 2018536436-A/6: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868171 - JP 2018536436-A/7: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868172 - JP 2018536436-A/8: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873659 - JP 2018536436-A/5495: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868173 - JP 2018536436-A/9: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868174 - JP 2018536436-A/10: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868175 - JP 2018536436-A/11: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868183 - JP 2018536436-A/19: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873665 - JP 2018536436-A/5501: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868184 - JP 2018536436-A/20: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868185 - JP 2018536436-A/21: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868186 - JP 2018536436-A/22: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868187 - JP 2018536436-A/23: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868188 - JP 2018536436-A/24: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868189 - JP 2018536436-A/25: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868190 - JP 2018536436-A/26: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873668 - JP 2018536436-A/5504: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868191 - JP 2018536436-A/27: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868192 - JP 2018536436-A/28: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868193 - JP 2018536436-A/29: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873671 - JP 2018536436-A/5507: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA873672 - JP 2018536436-A/5508: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868211 - JP 2018536436-A/47: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
MA868212 - JP 2018536436-A/48: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596069 - KR 1020180133840-A/5493: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596070 - KR 1020180133840-A/5494: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596071 - KR 1020180133840-A/5495: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596077 - KR 1020180133840-A/5501: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596080 - KR 1020180133840-A/5504: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596083 - KR 1020180133840-A/5507: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY596084 - KR 1020180133840-A/5508: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590579 - KR 1020180133840-A/3: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590580 - KR 1020180133840-A/4: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590581 - KR 1020180133840-A/5: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590582 - KR 1020180133840-A/6: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590583 - KR 1020180133840-A/7: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590584 - KR 1020180133840-A/8: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590585 - KR 1020180133840-A/9: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590586 - KR 1020180133840-A/10: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590587 - KR 1020180133840-A/11: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590595 - KR 1020180133840-A/19: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590596 - KR 1020180133840-A/20: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590597 - KR 1020180133840-A/21: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590598 - KR 1020180133840-A/22: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590599 - KR 1020180133840-A/23: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590600 - KR 1020180133840-A/24: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590601 - KR 1020180133840-A/25: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590602 - KR 1020180133840-A/26: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590603 - KR 1020180133840-A/27: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590604 - KR 1020180133840-A/28: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590605 - KR 1020180133840-A/29: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590623 - KR 1020180133840-A/47: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.
LY590624 - KR 1020180133840-A/48: COMPOSITIONS AND METHODS FOR IMMUNOONCOLOGY.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04612 - Antigen processing and presentation

BioCarta from NCI Cancer Genome Anatomy Project
h_mhcPathway - Antigen Processing and Presentation
h_nkcellsPathway - Ras-Independent pathway in NK cell-mediated cytotoxicity
h_ctlPathway - CTL mediated immune response against target cells

-  Other Names for This Gene
  Alternate Gene Symbols: AK303560, F5H6I0, F5H6I0_HUMAN, NM_004048, NP_004039
UCSC ID: uc010uek.1
RefSeq Accession: NM_004048
Protein: F5H6I0

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK303560.1
exon count: 2CDS single in 3' UTR: no RNA size: 1027
ORF size: 369CDS single in intron: no Alignment % ID: 99.90
txCdsPredict score: 938.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 651# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.