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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

B2M Gene

protein-coding GIFtS: 68
GCID: GC15P045003

beta-2-microglobulin

Explore 237 diseases affiliated with
B2M via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Beta-2-Microglobulin¹
Beta Chain Of MHC Class I Molecules²
Beta-2-Microglobin¹

External Ids:	HGNC: 914¹	Entrez Gene: 567²	Ensembl: ENSG00000166710⁷	OMIM: 109700⁵	UniProtKB: P61769³

Export aliases for B2M gene to outside databases

Previous GC identifers: GC15P040370 GC15P037899 GC15P042582 GC15P042719 GC15P042790 GC15P021827

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for B2M:

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. A mutation in this gene has been shown to result in

hypercatabolic hypoproteinemia.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

Function: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide

antigens to the immune system

Gene Wiki entry for B2M (Beta-2 microglobulin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the B2M gene promoter:
TBP SRY STAT1 GATA-6 ATF-2 STAT1beta POU3F2 GATA-1 STAT1alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): B2M promoter sequence

Search SABiosciences Chromatin IP Primers for B2M

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B2M

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21-q22.2 Ensembl cytogenetic band: 15q21.1 HGNC cytogenetic band: 15q21-q22.2

B2M Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B2M gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P045003: view genomic region (about GC identifiers)

Start:	45,003,675 bp from pter	End:	45,011,075 bp from pter
Size:	7,401 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769 (See protein sequence)

Recommended Name: Beta-2-microglobulin precursor

Size: 119 amino acids; 13715 Da

Subunit: 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

Subcellular location: Secreted. Note=Detected in serum and urine

6/392 PDB 3D structures from and Proteopedia for B2M (see all 392):

1A1M (3D)

1A1N (3D)

1A1O (3D)

1A6Z (3D)

1A9B (3D)

1A9E (3D)

Secondary accessions: P01884 Q540F8 Q6IAT8 Q9UCK0 Q9UD48 Q9UDF4

Explore the universe of human proteins at neXtProt for B2M: NX_P61769

Post-translational modifications:

Glycation of Ile-21 is observed in long-term hemodialysis patients¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P61769

B2M Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004039.1

ENSEMBL proteins:

ENSP00000452780 ENSP00000453023 ENSP00000453191 ENSP00000453350 ENSP00000340858

ENSP00000452861 ENSP00000453186 ENSP00000437604

Reactome Protein details: P61769
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for B2M
	Browse Proteins at Uscn

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IEA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005886	plasma membrane	TAS	--

B2M for ontologies About GeneDecksing

B2M Antibody Products:

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Assay Products for B2M:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

B2M for domains About GeneDecksing

5 InterPro domains/families:

IPR007110 Ig-like_dom

IPR003006 Ig/MHC_CS

IPR015707 B2Microglobulin

IPR013783 Ig-like_fold

IPR003597 Ig_C1-set

Graphical View of Domain Structure for InterPro Entry P61769

ProtoNet protein and cluster: P61769

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

Similarity: Belongs to the beta-2-microglobulin family

Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

Function: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide

antigens to the immune system

Genatlas biochemistry entry for B2M:

microglobulin,beta-2 mutated in any tumoral cells (with loss of HLA class 1 antigen)

miRNA Products:		OriGene 3'-UTR Clone: B2M Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat B2M
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate B2M:
		hsa-miR-513a-3p hsa-miR-1322 hsa-miR-340
		SwitchGear 3'UTR luciferase reporter plasmid: B2M 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B2M (see all 7) OriGene shRNA RFP: B2M OriGene siRNA: B2M
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B2M

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for B2M

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		Search LifeMap BioReagents cell lines for B2M

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B2M

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15723809

B2M for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for B2M:

Decreased influenza A H1N1 (A/

Decreased influenza A/WSN/33 r

Animal Models:
Mouse knock-outs for B2M: B2m^tm1Jae B2m^tm1Unc
14 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for B2m):

cardiovascular system	cellular	digestive/alimentary	endocrine/exocrine gland	growth/size
hematopoietic system	homeostasis/metabolism	immune system	integument	liver/biliary system
mortality/aging	nervous system	reproductive system	tumorigenesis

B2M for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Translocation of peptide bound MHC class I complex to cell surface

Translocation of peptide bound MHC class I complex to cell surface	1.00	Endosomal/Vacuolar pathway	0.78
Journey of cargo through Golgi complex	1.00	Peptide loading on MHC class I in phagosome	0.70
Expression of peptide bound class I MHC on cell surface	1.00	Antigen Presentation: Folding, assembly and peptide loading of class I MHC	0.28
Export of peptide loaded MHC class I complex to PM	1.00

Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters

	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1.00			Nef mediated downregulation of MHC class I complex cell surface expression	0.48
	The role of Nef in HIV-1 replication and disease pathogenesis	0.75			Degradation of MHC I Complex	0.48

Immune System

	Immune System	1.00			Innate Immune System	0.46
	Adaptive Immune System	0.59

Amyloid precursor proteins form ordered fibrils

Amyloid precursor proteins form ordered fibrils

1.00

Amyloids

0.43

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Interferon Signaling

0.61

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for B2M

Immune response Antigen presentation by MHC class I

1 Cell Signaling Technology (CST) Pathway for B2M

Lymphocyte Signaling

1 GeneGo (Thomson Reuters) Pathway for B2M

Immune response Antigen presentation by MHC class I

3 BioSystems Pathways for B2M

	TCR signaling in naive CD8+ T cells
	Downstream signaling in naive CD8+ T cells
	IL12-mediated signaling events

5/29 Reactome Pathways for B2M (see all 29)

	Endosomal/Vacuolar pathway
	Antigen Presentation: Folding, assembly and peptide loading of class I MHC
	The role of Nef in HIV-1 replication and disease pathogenesis
	ER-Phagosome pathway
	Disease

1 Kegg Pathway (Kegg details for B2M):

Antigen processing and presentation

B2M for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for B2M

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/203 Interacting proteins for B2M (P61769^{1, 2, 3} ENSP00000340858⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 203)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HLA-B	P30481²^,³, ENSP00000399168⁴	MINT-24887 I2D: score=1 MINT-24786 I2D: score=1 MINT-25080 I2D: score=3 MINT-24861 I2D: score=1 MINT-24943 I2D: score=1 MINT-25057 I2D: score=4 I2D: score=1 STRING: ENSP00000399168
HLA-A	P13746³, ENSP00000366005⁴	I2D: score=2 I2D: score=1 I2D: score=2 I2D: score=2 MINT-24957 I2D: score=3 MINT-24995 I2D: score=2 STRING: ENSP00000366005
CD1B	P29016¹^,²^,³, ENSP00000357150⁴	EBI-714718,EBI-1033762 MINT-24761 I2D: score=4 STRING: ENSP00000357150
ENSG00000206452	P30504²^,³, ENSP00000383245⁴	MINT-24804 I2D: score=1 STRING: ENSP00000383245
FCGRT	P55899²^,³, ENSP00000221466⁴	MINT-24843 I2D: score=6 STRING: ENSP00000221466

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001916	positive regulation of T cell mediated cytotoxicity	IEA	--
GO:0002237	response to molecule of bacterial origin	IEA	--
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	--
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	--
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	--

B2M for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

B2M for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for B2M

2 DrugBank Compounds for B2M About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
3-Indolebutyric Acid	--	133-32-4	target	--	10592235
N-Formylmethionine	--	--	target	--	10592235

10/128 Novoseek chemical compound relationships for B2M gene (see all 128) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neopterin	91.3	373	11246052 (7), 1976599 (6), 8517058 (6), 1582019 (6) (see all 99)
beta2-microglobulin	83.7	10	12649720 (2), 18691256 (2), 17223968 (1), 11293823 (1) (see all 6)
cuprophan	81.4	15	2264202 (3), 8465819 (2), 7973484 (1), 1992659 (1) (see all 10)
actb	78.2	22	10378372 (3), 15720708 (3), 19656400 (1), 19544972 (1) (see all 16)
creatinine	74.1	339	12738401 (7), 17519026 (5), 11248475 (4), 8848352 (3) (see all 99)
polysulfone	71.9	20	8793795 (2), 1516991 (2), 8465821 (2), 17050637 (2) (see all 11)
polyacrylonitrile	66.2	6	1516991 (2), 2174686 (2), 9347661 (1), 7832652 (1)
an 69	58.9	4	8381935 (2), 2197235 (1)
2',5'-oligoadenylate	58.7	35	2059368 (4), 8471593 (3), 7683894 (3), 1760815 (2) (see all 18)
cadmium	56.2	73	1765861 (2), 18692183 (2), 9037804 (2), 17943303 (2) (see all 39)

Search CenterWatch for drugs/clinical trials and news about B2M / B2MG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for B2M gene:

NM_004048.2

Unigene Cluster for B2M:

Beta-2-microglobulin

Hs.534255 [show with all ESTs]

Unigene Representative Sequence: AK022379

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000558401(uc001zuc.3) ENST00000559720(uc010uek.1 uc010bdx.1)

ENST00000561424 ENST00000559916 ENST00000349264 ENST00000557901 ENST00000559907

ENST00000560681 ENST00000559220 ENST00000561139 ENST00000560556 ENST00000560113

ENST00000544417

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		3 QIAGEN miScript miRNA Assays for microRNAs that regulate B2M:
		hsa-miR-513a-3p hsa-miR-1322 hsa-miR-340
		SwitchGear 3'UTR luciferase reporter plasmid: B2M 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: B2M (NM_004048)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B2M
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B2M

Additional cDNA sequence:

AB021288.1 AF072097.1 AK022379.1 AK303560.1 AK315776.1 AY007153.1 AY187687.1 BC032589.1

BC064910.1 CR457066.1 DQ839493.1 DQ839494.1 DQ884406.1 S54761.1 S82297.1 V00567.1

24/129 DOTS entries (see all 129):

DT.91677800 DT.91869130 DT.100744815 DT.91784683 DT.100744805 DT.100744850 DT.100744823 DT.100744876

DT.100060553 DT.91945313 DT.87008425 DT.100060562 DT.91784584 DT.100744810 DT.98132007 DT.100744841

DT.91687294 DT.320726 DT.95255900 DT.95255887 DT.100689059 DT.100744813 DT.91784806 DT.121059468

24/5611 AceView cDNA sequences (see all 5611):

CR596444 AI919530 BU629461 CA421505 CR613955 BE619437 CB268086 BM996491

CR599875 BM845294 AA650578 BQ631628 BU657343 BM353270 CR590254 AW089594

AA344362 BM787486 AA380296 BM760704 BM760036 BM970121 CA417002 AA283298

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for B2M About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	·	3c	^	4
SP1:					-						-
SP2:			-		-		-				-
SP3:											-
SP4:					-

ECgene alternative splicing isoforms for B2M

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

B2M expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTGTGGTTA

About this image

B2M expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

Rockefeller university embryonic stem cell line 1 (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Floating colonies of cardiomyocytes (Differentiation of c...)

Early cardiomyocytes (Differentiation of c...)

Hepatocyte-like cells (Functional hepatocyt...)

Trophoblast-like cells (Generation of tropho...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See B2M Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for B2M

SOURCE GeneReport for Unigene cluster: Hs.534255

SABiosciences Expression via Pathway-Focused PCR Arrays including B2M (see all 149):

Antiviral Response in human mouse rat

Multiple Sclerosis in human mouse rat

Wound Healing in human mouse rat

Prostate Cancer in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B2M

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B2M

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for B2M gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	B2m^{1 , 5}	beta-2 microglobulin^{1, 5}	71.71(n)¹ 68.07(a)¹		2 (60.55 cM)⁵ 12010¹ NM_009735.3¹ NP_033865.2¹ 122147686⁵
chicken (Gallus gallus)	Aves	B2M¹	beta-2-microglobulin	54.05(n) 46.85(a)		414830 NM_001001750.1 NP_001001750.1
lizard (Anolis carolinensis)	Reptilia	B2M⁶ --	--	46(a) 38(a)	many → 1 many → 1	GL343490.1(364590-366690) GL343490.1(413157-414489)
zebrafish (Danio rerio)	Actinopterygii	b2ml¹	beta-2-microglobulin, like	54.05(n) 48.65(a)		791742 NM_213126.1 NP_998291.1

ENSEMBL Gene Tree for B2M (if available)
TreeFam Gene Tree for B2M (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894481^1,2	C	pathogenic	80554632(+)	`TGCTCC/GCGCTA`	2	P A	mis¹		0	--	--	--	--
rs1901529^1,2	C,A,	--	21825511(+)	`CAAAGA/GAAACT`	1	--	us2k¹		4		NA CSA WA	242
rs17235822^1,2	C,	--	21825860(+)	`TAAATA/GANNNN`	1	--	us2k¹ tfbs³		3		NA	124
rs74773063^1,2	C,F,	--	21825982(+)	`ATTTTC/TTTAGT`	1	--	us2k¹		1		WA	118
rs78335029^1,2		--	21826312(+)	`AACTCT/CCACTA`	1	--	us2k¹		2		CSA WA	120
rs3759876^1,2	C,F,H,	--	21826344(+)	`TCCAGT/CGTCTA`	1	--	us2k¹ tfbs³		8		EA NS	2368
rs111974789^1,2		--	21826603(+)	`TAGCAG/ATTACT`	1	--	us2k¹		1		CSA	2
rs11854648^1,2	H	--	21827065(+)	`TCCTAG/TAATGA`	1	--	us2k¹		0	--	--	--	--
rs74929217^1,2		--	21827199(+)	`GAAAAC/TGGGAA`	1	--	us2k¹		1		WA	118
rs36220461^1,2	C	--	21827298(+)	`TTTAAG/TATAAG`	1	--	ut5¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for B2M (45003675 - 45011075 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for B2M
1 CNV: 3961
Human Gene Mutation Database (HGMD): B2M

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing B2M

DNA2.0 Custom Variant and Variant Library Synthesis for B2M

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

B2M for disorders           About GeneDecksing

OMIM gene information: 109700
OMIM disorders: 241600
UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]. Affected individuals

show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation

Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The

capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum

levels lead to amyloidosis in patients on long-term hemodialysis

20/237 diseases for B2M (see all 237): About MalaCards

intestinal pseudo-obstruction hypoproteinemia, hypercatabolic twin-to-twin transfusion syndrome post-transplant lymphoproliferative disease

osteitis fibrosa monoclonal gammopathy of undetermined significance twin twin transfusion syndrome tick-borne encephalitis

carpal tunnel syndrome steroid-resistant nephrotic syndrome aids dementia complex diffuse large b-cell lymphoma

hypersensitivity reaction type ii disease mercury poisoning retinol binding protein tropical spastic paraparesis

iron overload human immunodeficiency virus infectious disease amyloidosis aa lymphomatoid papulosis

15 diseases from the University of Copenhagen DISEASES database for B2M:

Amyloidosis Multiple myeloma Carpal tunnel syndrome Kidney failure

Proteinuria Human immunodeficiency virus infectious disease Lymphoma Arthropathy

Nephritis Leukemia Pyelonephritis Diabetes mellitus

Hypersensitivity reaction type II disease Arthritis Macroglobulinemia

10/98 Novoseek disease relationships for B2M gene (see all 98) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
amyloidosis	86.5	235	8699608 (4), 2191408 (3), 16267605 (3), 18350445 (3) (see all 99)
amyloid deposition	69.4	30	9839174 (4), 8742217 (2), 7675780 (2), 2067215 (1) (see all 21)
myeloma	66.9	24	8701935 (1), 12705694 (1), 1954991 (1), 1638024 (1) (see all 22)
carpal tunnel syndrome	66.4	15	7973484 (1), 9481434 (1), 7955417 (1), 10853552 (1) (see all 14)
proteinuria	62.2	36	2122516 (2), 7554529 (2), 1582058 (2), 2181210 (1) (see all 29)
hiv infections	62	42	1398802 (2), 18610664 (2), 2059368 (2), 8002043 (2) (see all 35)
arthropathy, erosive	61.6	1	7753473 (1)
albuminuria	60.9	8	2250610 (2), 9693499 (1), 10332434 (1), 8343614 (1) (see all 7)
arthropathy	60.9	18	7653483 (2), 8314633 (1), 8302409 (1), 8024566 (1) (see all 15)
aids-related complex	58.9	4	1976599 (1), 2127261 (1), 1774603 (1), 7546418 (1)

Genatlas disease: B2M

amyloidosis,hemodialysis-related (B2M deposit)

Genetic Association Database (GAD): B2M
Human Genome Epidemiology (HuGE) Navigator: B2M (10 documents)

Export disorders for B2M gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for B2M gene, integrated from 9 sources (see all 1534):
(articles sorted by number of sources associating them with B2M)

Utopia: connect your pdf to the dynamic
world of online information

Amino acid sequence of a modified beta 2-microglobulin in renal failure patient urine and long-term dialysis patient blood. (PubMed id 7554280)^{1, 2, 9} Momoi T.... Saito A. (1995)
Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation. (PubMed id 19284997)^{1, 2} Ricagno S....Bolognesi M. (2009)
DE loop mutations affect beta2-microglobulin stability and amyloid aggregation. (PubMed id 18835253)^{1, 2} Ricagno S.... Bolognesi M. (2008)
High-resolution crystal structure of beta2-microglobulin formed at pH 7.0. (PubMed id 17646174)^{1, 2} Iwata K....Goto Y. (2007)
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. (PubMed id 16549777)^{1, 2} Wani M.A.... Anderson C.L. (2006)
Conformation of amyloid fibrils of beta2-microglobulin probed by tryptophan mutagenesis. (PubMed id 16901902)^{1, 2} Kihara M.... Goto Y. (2006)
Cloning of human beta-microglobulin gene and its high expression in Escherichia coli. (PubMed id 16108498)^{1, 2} He X.H.... Zeng Y.Y. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Crystal structure of monomeric human beta-2-microglobulin reveals clues to its amyloidogenic properties. (PubMed id 12119416)^{1, 2} Trinh C.H.... Radford S.E. (2002)
Bound water structure and polymorphic amino acids act together to allow the binding of different peptides to MHC class I HLA-B53. (PubMed id 8624812)^{1, 2} Smith K.J.... Jones E.Y. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 567	HGNC: 914	AceView: B2MandRNF36andLOC400368	Ensembl:ENSG00000166710	euGenes: HUgn567
ECgene: B2M	Kegg: 567	H-InvDB: B2M

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for B2M	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Beta-2-microglobulin

Intellectual Property for B2M gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for B2M gene:
Search GeneIP for patents involving B2M

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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B2M Gene

beta-2-microglobulin

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ARTHROPATHY, EROSIVE
Osteitis fibrosa
Microalbuminuria
PLASMACYTOSIS
Lymphoma Large Cell
AMYLOIDOSIS SECONDARY
Oral candidiasis
PAGETS BONE DISEASE
Bone Diseases
Hereditary hemochromatosis
Meningitis Viral
Sjogrens Syndrome Primary
Fractures Pathological
asymptomatic HIV infection
Hyperparathyroidism Secondary
AIDS
ALVEOLITIS
Nephrotic Syndrome
Amyloidosis
Hypophosphatemia
Diabetes Mellitus Insulin-Dependent
Monoclonal gammopathy
OBSTRUCTIVE UROPATHY
HEPATITIS ACUTE VIRAL
Lymphocytosis
Lymphoma
Urinary Tract Diseases
Chronic pyelonephritis
RENAL DISEASE
Hypercalcemia
Macroglossia
BONE LESION
Diabetic Nephropathies
Proteinuria
immunodeficiency
metabolic acidosis
Intestinal Pseudo-Obstruction
HIV encephalitis
Anemia
URINARY TRACT ANOMALY
MYELOMA
Renal Failure
Rheumatoid Arthritis
Tumors
HEMOGLOBINEMIA
Renal tubular disorder
Necrosis
Renal Failure Acute
Carpal Tunnel Syndrome
virus infection
hypercalciuria
progressive disease
LYTIC LESION
Lymphadenopathy
Amyloid deposition
arthropathy
Leukemia Lymphocytic Chronic
Aminoaciduria
Chronic glomerulonephritis
TOXICITY RENAL
Acidosis Renal Tubular
Sjogrens Syndrome
Opportunistic Infections
Lymphopenia
Carcinoma Renal Cell
Lymphoma High-Grade
Spondylarthropathies
metastatic renal cell carcinoma
Viremia
Uremia
Albuminuria
Chronic myeloproliferative disease
ivdu
METASTATIC CALCIFICATION
HIV Infections
Lymphoproliferative Disorders
Tuberculosis Renal
AIDS-Related Complex
Lymphocytic Leukemia Chronic B-Cell
Chronic arthropathy
skeletal disorder
Amyloidosis Systemic
Central Nervous System Infections
Endemic Nephropathy Balkan
AIDS Dementia Complex
KIDNEY DYSFUNCTION
Hemochromatosis
Proximal Renal Tubular Dysfunction
Iron Overload
Plasmacytoma
Lymphoma Non-Hodgkins
Glomerulonephritis
Peritonitis
BONE DESTRUCTION
Synovitis
LEUKAEMIA LYMPHOCYTIC
Renal Failure Chronic
Bone Cysts

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B2M Gene

beta-2-microglobulin

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