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B2M Gene

protein-coding GIFtS: 66

GC15P042790

beta-2-microglobulin
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
beta-2-microglobin ^²
beta-2-microglobulin ^²

Descriptions
beta chain of MHC class I molecules ^²

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

Search outside databases for aliases for B2M gene

Previous GC identifers: GC15P040370 GC15P037899 GC15P042582 GC15P042719

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

EntrezGene summary for B2M:

Beta-2-microglobulin is a serum protein found in association with the major histocompatibility

complex (MHC) class I heavy chain on the surface of nearly all nucleated cells (Gussow et al.,

1987 [PubMed 3312414]).[supplied by OMIM]

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

Function: Beta-2-microglobulin is the beta-chain of major histocompatibility complex class I

molecules

Gene Wiki entry for B2M (Beta-2_microglobulin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the B2M gene

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)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P042790: (about GC identifiers)

Start:	42,790,977 bp from pter
End:	42,813,611 bp from pter
Size:	22,635 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000015.8 NT_010194.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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

Recommended Name: Beta-2-microglobulin precursor

Size: 119 amino acids; 13715 Da

Subcellular location: Secreted

PDB structures from and Proteopedia :

1A1M (3D)

1A1N (3D)

1A1O (3D)

1A6Z (3D)

1A9B (3D)

1A9E (3D)

1AGB (3D)

1AGC (3D)

1AGD (3D)

1AGE (3D)

1AGF (3D)

1AKJ (3D)

1AO7 (3D)

1B0G (3D)

1B0R (3D)

1BD2 (3D)

1C16 (3D)

1CE6 (3D)

1CG9 (3D)

1DE4 (3D)

1DUY (3D)

1DUZ (3D)

1E27 (3D)

1E28 (3D)

1EEY (3D)

1EEZ (3D)

1EFX (3D)

1EXU (3D)

1GZP (3D)

1GZQ (3D)

1HHG (3D)

1HHH (3D)

1HHI (3D)

1HHJ (3D)

1HHK (3D)

1HLA (3D)

1HSA (3D)

1HSB (3D)

1I1F (3D)

1I1Y (3D)

1I4F (3D)

1I7R (3D)

1I7T (3D)

1I7U (3D)

1IM3 (3D)

1IM9 (3D)

1JF1 (3D)

1JGD (3D)

1JGE (3D)

1JHT (3D)

1JNJ (3D)

1K5N (3D)

1KPR (3D)

1KTL (3D)

1LDS (3D)

1LP9 (3D)

1M05 (3D)

1M6O (3D)

1MHE (3D)

1MI5 (3D)

1N2R (3D)

1OF2 (3D)

1OGA (3D)

1OGT (3D)

1ONQ (3D)

1P7Q (3D)

1PY4 (3D)

1Q94 (3D)

1QEW (3D)

1QLF (3D)

1QQD (3D)

1QR1 (3D)

1QRN (3D)

1QSE (3D)

1QSF (3D)

1QVO (3D)

1R3H (3D)

1S8D (3D)

1S9W (3D)

1S9X (3D)

1S9Y (3D)

1SYS (3D)

1SYV (3D)

1T1W (3D)

1T1X (3D)

1T1Y (3D)

1T1Z (3D)

1T20 (3D)

1T21 (3D)

1T22 (3D)

1TMC (3D)

1TVB (3D)

1TVH (3D)

1UQS (3D)

1UR7 (3D)

1UXS (3D)

1UXW (3D)

1VGK (3D)

1W0V (3D)

1W0W (3D)

1W72 (3D)

1X7Q (3D)

1XH3 (3D)

1XR8 (3D)

1XR9 (3D)

1XZ0 (3D)

1YDP (3D)

1YPZ (3D)

1ZHK (3D)

1ZHL (3D)

1ZS8 (3D)

1ZSD (3D)

1ZT4 (3D)

1ZVS (3D)

2A83 (3D)

2AK4 (3D)

2AV7 (3D)

2AXF (3D)

2AXG (3D)

2BCK (3D)

2BNQ (3D)

2BNR (3D)

2BSR (3D)

2BSS (3D)

2BST (3D)

2BVQ (3D)

2C7U (3D)

2CII (3D)

2CIK (3D)

2CLR (3D)

2D31 (3D)

2D4D (3D)

2D4F (3D)

2DYP (3D)

2E8D (3D)

2ESV (3D)

2F53 (3D)

2F54 (3D)

2F74 (3D)

2F8O (3D)

2FYY (3D)

2FZ3 (3D)

2GIT (3D)

2GJ6 (3D)

2GT9 (3D)

2GTW (3D)

2GTZ (3D)

2GUO (3D)

2H26 (3D)

2H6P (3D)

2HJK (3D)

2HJL (3D)

2HLA (3D)

2HN7 (3D)

2J8U (3D)

2JCC (3D)

2NW3 (3D)

2NX5 (3D)

2P5E (3D)

2P5W (3D)

2PO6 (3D)

2PYE (3D)

2RFX (3D)

2UWE (3D)

2V2W (3D)

2V2X (3D)

2VB5 (3D)

2VLJ (3D)

2VLK (3D)

2VLL (3D)

2VLR (3D)

2YXF (3D)

2Z9T (3D)

3B3I (3D)

3B6S (3D)

3BGM (3D)

3BH8 (3D)

3BH9 (3D)

3BHB (3D)

3BO8 (3D)

3BP4 (3D)

3BP7 (3D)

3BVN (3D)

3BW9 (3D)

3BWA (3D)

3BXN (3D)

3BZE (3D)

3BZF (3D)

3C9N (3D)

3CDG (3D)

3CII (3D)

3CIQ (3D)

3CZF (3D)

3D18 (3D)

3D25 (3D)

3D2U (3D)

3DBX (3D)

3DHJ (3D)

3DHM (3D)

3DTX (3D)

3DX6 (3D)

3DX7 (3D)

3DX8 (3D)

3DXA (3D)

3FFC (3D)

3FQN (3D)

3FQR (3D)

3FQT (3D)

3FQU (3D)

3FQW (3D)

3FQX (3D)

3FT2 (3D)

3FT3 (3D)

3FT4 (3D)

3GJF (3D)

3HAE (3D)

3HLA (3D)

Secondary accessions: P01884 Q540F8 Q6IAT8 Q9UCK0 Q9UDF4

Post-translational modifications:

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

REFSEQ proteins: NP_004039.1

ENSEMBL proteins:

ENSP00000340858 ENSP00000379978

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for B2M
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (beta 2 Microglobulin)
	Human Recombinant Proteins from Abnova (B2M)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	EXP	15569716
GO:0005576	extracellular region	IEA	--
GO:0005794	Golgi apparatus	IDA	18029348
GO:0005886	plasma membrane	IDA	18029348
GO:0031901	early endosome membrane	EXP	15569716

About this table

Antibodies for B2M:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of B2M
	Sigma-Aldrich Antibodies for B2M
	R&D Systems Antibodies for B2M (beta 2-Microglobulin)
	Antibodies from Abcam (beta 2 Microglobulin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (B2M)
	Novus Biologicals Antibodies for B2M

Assays for B2M:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for B2M (beta 2-Microglobulin) (see all)
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B2M)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (B2M)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004048

Applied Biosystems Silencer® siRNAs for B2M

Sigma-Aldrich siRNA for B2M

Sigma-Aldrich shRNA Panels and shRNA for B2M

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for B2M
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_004048
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004048
untagged cDNA clone in CMV expression vector: NM_004048

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_004048

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

Function: Beta-2-microglobulin is the beta-chain of major histocompatibility complex class I

molecules

Genatlas biochemistry entry for B2M:

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

13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for B2m):

	digestive/alimentary	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system
reproductive system	skin/coat/nails	tumorigenesis

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	12118248

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for B2M (Your Favorite Gene powered by Ingenuity) (see all 7 )

Antigen Presentation Pathway
Dendritic Cell Maturation
IL-4 Signaling
Protein Ubiquitination Pathway
Virus Entry via Endocytic Pathways

GeneDecks B2M for the pathways selected above

About GeneDecksing

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

5/130 Interacting proteins for B2M (ENSP00000340858³ P61769^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 130 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000206505	P01892²	STRING (score=.999) MINT-24995 MINT-24957
HLA-C	P30504²	STRING (score=.997) STRING (score=.975) MINT-24804
ENSG00000206452	P30504²	STRING (score=.999) MINT-24804
ENSG00000206503	P01892²	STRING (score=.999) MINT-24957
FCGRT	P55899²	STRING (score=.999) MINT-24843
HLA-A	P01892²	MINT-24995 MINT-24957
CD1B	P29016¹^,²	STRING (score=.99) EBI-714718, EBI-1033762 MINT-24761 EBI-714718, EBI-1033762 MINT-24761

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	--
GO:0006955	immune response	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for B2M
10/46 Novoseek chemical compound relationships for B2M gene (see all 46 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
neopterin	91.46	372	11246052 (7), 1976599 (6), 8517058 (6), 1582019 (6) (see all 99)
beta2-microglobulin	83.81	10	12649720 (2), 18691256 (2), 17223968 (1), 11293823 (1) (see all 6)
cuprophan	81.53	15	2264202 (3), 8465819 (2), 7973484 (1), 1992659 (1) (see all 10)
actb	73.99	16	10378372 (3), 15720708 (3), 11827948 (1), 18317805 (1) (see all 11)
polysulfone	72.10	20	8793795 (2), 1516991 (2), 8465821 (2), 17050637 (2) (see all 11)
polyacrylonitrile	66.17	6	1516991 (2), 2174686 (2), 9347661 (1), 7832652 (1)
an 69	59.38	4	8381935 (2), 2197235 (1)
cadmium	57.33	73	1765861 (2), 18692183 (2), 9037804 (2), 17943303 (2) (see all 39)
hemophan	55.74	1	1532382 (1)
cellulose triacetate	50.73	1	8177478 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B2M)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (B2M)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004048

Sigma-Aldrich siRNA for B2M

Sigma-Aldrich shRNA Panels and shRNA for B2M

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_004048

REFSEQ mRNAs for B2M gene:

NM_004048.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_004048

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004048
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004048
                                 untagged cDNA clone in CMV expression vector: NM_004048

Additional cDNA sequence:

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

BC064910.1 CR457066.1 CR590254.1 CR591572.1 CR592576.1 CR592679.1 CR593405.1 CR593761.1

CR593874.1 CR594444.1 CR596238.1 CR596347.1 CR596444.1 CR596717.1 CR597808.1 CR599099.1

CR599510.1 CR599875.1 CR603043.1 CR603887.1 CR604110.1 CR604555.1 CR604705.1 CR604949.1

CR605353.1 CR606667.1 CR607236.1 CR608139.1 CR608197.1 CR610094.1 CR610959.1 CR612132.1

CR612519.1 CR613616.1 CR613782.1 CR613955.1 CR614402.1 CR614556.1 CR615574.1 CR615578.1

CR615729.1 CR616171.1 CR616437.1 CR619071.1 CR619828.1 CR620994.1 CR621079.1 CR623073.1

CR624595.1 CR625152.1 CR626821.1 DQ839493.1 DQ839494.1 DQ884406.1 S54761.1 S82297.1

V00567.1

24/121 DOTS entries (see all 121 ):

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

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

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

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

BU507104 BE501646 AW196620 CA843519 BI753414 CA307614 BG535621 AA650578

AA574234 BG106673 BM353813 AW273536 AI758718 BE907091 BQ269060 BU785920

BG252080 BF975902 BU627760 AA167361 BF916825 BQ643718 AA319992 BQ441827

highest scoring ESTs for B2M:

AI925488 S82297 V00567 AA031904 AA044885 AA053062 AA053406 AA056267 AA065196 AA071386

Unigene Cluster for B2M:

Beta-2-microglobulin

Hs.709313 [show with all ESTs]

Unigene Representative Sequence: AK022379

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for B2M

2 Ensembl transcripts including schematic representations:

ENST00000349264 ENST00000396754

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

B2M expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for B2M

¹ / ² / ³

8 probe-sets matching B2M gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
428_s_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.96	V00567	1.00	1.00	1.00	1
201_s_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.97	S82297	1.00	1.00	1.00	1
34644_at²^{, 3}	U95-A	2	1.00	0.97	0.91	0.93	M17987	0.20	1.00	0.72	1
74840_s_at²^{, 3}	U95-D	2	1.00	0.97	0.92	1.15	AI925488	1.00	1.00	1.00	1
201891_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_004048	0.60	1.00	0.82	1
216231_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW188940	0.80	1.00	0.91	1
201891_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216231_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GTTGTGGTTA

SOURCE GeneReport for Unigene cluster: Hs.709313
Expression variation in blood from EXPOLDB for B2M

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for B2M gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	B2M¹	--	beta-2-microglobulin	77.06(n) 72.48(a)	478284 XM_535458.2 XP_535458.1
chimpanzee (Pan troglodytes)	B2M¹	--	beta-2-microglobulin	100(n) 100(a)	450170 NM_001009066.1 NP_001009066.1
cow (Bos taurus)	B2M¹	--	beta-2-microglobulin	80.23(n) 75.42(a)	280729 NM_173893.3 NP_776318.1
rat (Rattus norvegicus)	B2m¹	--	beta-2 microglobulin	71.15(n) 69.75(a)	24223 NM_012512.1 NP_036644.1
mouse (Mus musculus)	B2m^{1, 5}	2 (69.00 cM)⁵	beta-2 microglobulin^{1, 5}	71.71(n)¹ 68.07(a)¹	12010¹ NM_009735.3¹ NP_033865.2¹ AI099111⁵ AI528637⁵ (see all 27)

About this table Species with no ortholog for B2M

ENSEMBL Gene Tree for B2M

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

Paralogs for B2M gene

ENSG00000168379²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/63 NCBI SNPs in B2M are shown (see all 63 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 46)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs4780^1,2	A,C,F,H,O	42797314(-)	`TAAGTT/CGCCAG`	1	--	ut3¹		8		MN EU EA WA NA	738
	rs1869125^1,2	A,C,F,H	42797976(+)	`ATAcaG/Atcatc`	1	--	ng3¹		4		EU EA WA	416
	rs7151^1,2	A,C,F,H	42797304(-)	`GCCCTC/GCTAGA`	1	--	ut3¹ ese³		9		EA MN NA EU WA	2224
	rs2255235^1,2	A,C,F,H	42790656(+)	`CTGGCG/TGGGGC`	1	--	ng5¹ tfbs³		11		EA MN EU WA	2698
--	rs16966334^1,2	C,F,H	42790406(+)	`ACTTTC/GCAAAC`	1	--	ng5¹		5		MN EA EU	656
	rs1901529^1,2	A,C	42789192(+)	`CAAAGA/GAAACT`	1	--	ng5¹		0	--	--	--	--
	rs3759876^1,2	F,H	42790025(+)	`TCCAGT/CGTCTA`	1	--	ng5¹ tfbs³		5		EA EU WA	1916
	rs17235822^1,2	C	42789541(+)	`TAAATA/GATATT`	1	--	ng5¹ tfbs³		0	--	--	--	--
--	rs1869123^1,2	H	42797894(+)	`CGGGCC/AGGGTC`	1	--	ng3¹		4		EU EA WA	420
	rs3759877^1,2	C	42790246(+)	`AATGAC/TGTACC`	1	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for B2M (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 109700 disorders: 241600

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769

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

individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably

due to rapid degradation

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
amyloidosis	86.78	234	8699608 (4), 2191408 (3), 16267605 (3), 18350445 (3) (see all 99)
amyloid deposition	69.90	30	9839174 (4), 8742217 (2), 7675780 (2), 2067215 (1) (see all 21)
carpal tunnel syndrome	67.24	15	7973484 (1), 9481434 (1), 7955417 (1), 10853552 (1) (see all 14)
myeloma	66.91	24	8701935 (1), 12705694 (1), 1954991 (1), 1638024 (1) (see all 22)
proteinuria	62.72	36	2122516 (2), 7554529 (2), 1582058 (2), 2181210 (1) (see all 29)
arthropathy, erosive	62.55	1	7753473 (1)
hiv infections	62.38	42	1398802 (2), 18610664 (2), 2059368 (2), 8002043 (2) (see all 35)
albuminuria	61.67	8	2250610 (2), 9693499 (1), 10332434 (1), 8343614 (1) (see all 7)
arthropathy	61.00	17	7653483 (2), 8314633 (1), 8302409 (1), 8024566 (1) (see all 15)
aids-related complex	59.12	4	1976599 (1), 2127261 (1), 1774603 (1), 7546418 (1)

About this table

Genatlas disease: B2M

amyloidosis,hemodialysis-related (B2M deposit)

Human Gene Mutation Database: B2M
Genetic Association Database: B2M
Human Genome Epidemiology Navigator: B2M (4 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1296 PubMed articles for B2M gene (see all 1296 ):

Amino acid sequence of a modified beta 2-microglobulin in renal failure patient urine and long-term dialysis patient blood. (PubMed id 7554280)^{1, 3, 4} Momoi T.... Saito A. (1995)
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. (PubMed id 16549777)^{3, 4} Wani M.A.... Anderson C.L. (2006)
Cloning of human beta-microglobulin gene and its high expression in Escherichia coli (PubMed id 16108498)^{3, 4} 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)^{3, 4} Gerhard D.S....Malek J. (2004)
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)^{3, 4} Smith K.J.... Jones E.Y. (1996)
The three-dimensional structure of a class I major histocompatibility complex molecule missing the alpha 3 domain of the heavy chain. (PubMed id 7862664)^{3, 4} Collins E.J.... Wiley D.C. (1995)
1H NMR assignments and secondary structure of human beta 2- microglobulin in solution. (PubMed id 1390678)^{3, 4} Okon M.... Vucelic D. (1992)
Refined structure of the human histocompatibility antigen HLA-A2 at 2.6-A resolution. (PubMed id 2038058)^{3, 4} Saper M.A.... Wiley D.C. (1991)
Structure of the human class I histocompatibility antigen, HLA-A2. (PubMed id 3309677)^{3, 4} Bjorkman P.J....Wiley D.C. (1987)
The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit. (PubMed id 3312414)^{3, 4} Guessow D.... Ploegh H.L. (1987)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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, and/or H-InvDB)
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Entrez Gene: 567	HGNC: 914	AceView: B2MandRNF36andLOC400368	Ensembl:ENSG00000166710	euGenes: HUgn567
ECgene: B2M	H-InvDB: B2M

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
Wikipedia	http://en.wikipedia.org/wiki/Beta-2-microglobulin

Licensable Technologies for B2M
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for B2M:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for B2M-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for B2M		Antibodies for B2M
	Explore super-pooled esiRNAs		Proteins for B2M
	Lentivirus-delivered shRNAs for B2M		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (B2M)
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B2M Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for B2M

Summaries
for B2M

Genomic Location
for B2M

Proteins
for B2M

Protein Domains/
Families
for B2M

Gene Function
for B2M

Pathways & Interactions
for B2M

Drugs & Compounds
for B2M

Transcripts
for B2M

Expression
for B2M

Orthologs
for B2M

Paralogs
for B2M

SNPs/Variants
for B2M

Disorders & Mutations
for B2M

Medical News
for B2M

Publications
for B2M

Search for B2M

Genome Databases showing B2M

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

B2M Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor B2M

Summariesfor B2M

Genomic Locationfor B2M

Proteinsfor B2M

Protein Domains/Familiesfor B2M

Gene Functionfor B2M

Pathways & Interactionsfor B2M

Drugs & Compoundsfor B2M

Transcriptsfor B2M

Expression for B2M

Orthologsfor B2M

Paralogsfor B2M

SNPs/Variantsfor B2M

Disorders & Mutationsfor B2M

Medical Newsfor B2M

Publicationsfor B2M

Search for B2M

Genome Databases showing B2M

Other Databases showing B2M

Specialized Databases showing B2M

Licensable Technologiesfor B2M

Servicesfor B2M

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for B2M

Summaries
for B2M

Genomic Location
for B2M

Proteins
for B2M

Protein Domains/
Families
for B2M

Gene Function
for B2M

Pathways & Interactions
for B2M

Drugs & Compounds
for B2M

Transcripts
for B2M

Expression
for B2M

Orthologs
for B2M

Paralogs
for B2M

SNPs/Variants
for B2M

Disorders & Mutations
for B2M

Medical News
for B2M

Publications
for B2M

Licensable Technologies
for B2M

Services
for B2M