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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

A2M Gene

protein-coding GIFtS: 68
GCID: GC12M009220

alpha-2-macroglobulin

Explore 50 diseases affiliated with
A2M via

MalaCards

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Human Malady Compendium

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

Aliases
Alpha-2-Macroglobulin¹		C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 5² ³
CPAMD5¹ ² ³		A2MD²
FWP007¹ ²		Alpha-2-M³
S863-7¹ ²		Alpha-2-M³

External Ids:	HGNC: 7¹	Entrez Gene: 2²	Ensembl: ENSG00000175899⁷	OMIM: 103950⁵	UniProtKB: P01023³

Export aliases for A2M gene to outside databases

Previous GC identifers: GC12M008928 GC12M009368 GC12M009120 GC12M009111 GC12M009103 GC12M009001

(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 A2M:

Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin,

thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and

degradation of A-beta, the major component of beta-amyloid deposits. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: A2MG_HUMAN, P01023

Function: Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a

peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a

proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The

entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight

substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the

covalent binding of the protein to the proteinase

(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_000012.11 NC_018923.1 NT_009714.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the A2M gene promoter:
AREB6 GR CREB FAC1 deltaCREB Lmo2 STAT5A GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 21): A2M promoter sequence

Search SABiosciences Chromatin IP Primers for A2M

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat A2M

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

Entrez Gene cytogenetic band: 12p13.31 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13.31

A2M Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
A2M gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M009220: view genomic region (about GC identifiers)

Start:	9,220,260 bp from pter	End:	9,268,825 bp from pter
Size:	48,566 bases	Orientation:	minus 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: A2MG_HUMAN, P01023 (See protein sequence)

Recommended Name: Alpha-2-macroglobulin precursor

Size: 1474 amino acids; 163291 Da

Subunit: Homotetramer; disulfide-linked

Subcellular location: Secreted

Developmental stage: Contrary to the rat protein, which is an acute phase protein, this protein is always present at

high levels in circulation

Sequence caution: Sequence=AAT02228.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=BAD92851.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

3 PDB 3D structures from and Proteopedia for A2M:

1BV8 (3D)

2P9R (3D)

4ACQ (3D)

Secondary accessions: Q13677 Q59F47 Q5QTS0 Q68DN2 Q6PIY3 Q6PN97

Explore the universe of human proteins at neXtProt for A2M: NX_P01023

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01023

A2M Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000005.2

ENSEMBL proteins:

ENSP00000443302 ENSP00000323929 ENSP00000438599 ENSP00000445717 ENSP00000385710

Reactome Protein details: P01023
Human Recombinant Protein Products:

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	Novus Biologicals A2M Proteins Novus Biologicals A2M Lysates
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	ProSpec Recombinant Protein for A2M
	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IEA	--
GO:0005829	cytosol	TAS	--
GO:0031093	platelet alpha granule lumen	TAS	--
GO:0070062	extracellular vesicular exosome	IDA	--

A2M for ontologies About GeneDecksing

A2M Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

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

A2M for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR010916 TonB_box_CS

IPR019742 MacrogloblnA2_CS

IPR001599 Macroglobln_a2

IPR011626 A2M_comp

IPR002890 A2M_N

Graphical View of Domain Structure for InterPro Entry P01023

ProtoNet protein and cluster: P01023

3 Blocks protein families:

IPB001599 Alpha-2-macroglobulin

IPB002890 Alpha-2-macroglobulin

IPB009048 Alpha-macroglobulin

UniProtKB/Swiss-Prot: A2MG_HUMAN, P01023

Similarity: Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family

(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: A2MG_HUMAN, P01023

Function: Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a

peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a

proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The

entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight

substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the

covalent binding of the protein to the proteinase

Genatlas biochemistry entry for A2M:

macroglobulin,alpha-2- (protease inhibitor),may be implicated in susceptibility to Alzheimer disease (AD5)

miRNA Products:		OriGene 3'-UTR Clone: A2M Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for A2M

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004866	endopeptidase inhibitor activity	--	--
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	12538697
GO:0005515	protein binding	IPI	14687906
GO:0019838	growth factor binding	IDA	9398211
GO:0019899	enzyme binding	IPI	11435418

A2M for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for A2M:

Decreased viability with carbo

Lamellipodia cells

Synthetic lethal with Ras

(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 - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Formation of Fibrin Clot (Clotting Cascade)

	Formation of Fibrin Clot (Clotting Cascade)	1.00			Blood Coagulation Signaling Pathways	0.51
	Intrinsic Pathway	0.59

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Germ Cell-Sertoli Cell Junction Dynamics

0.38

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Pathway sources
See GeneCards unified pathways
Show all pathways

2 R&D Systems Pathways for A2M

	A-beta Uptake & Degradation
	Blood Coagulation Signaling Pathways

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for A2M

	Sertoli-Sertoli Cell Junction Dynamics
	Inhibition of Matrix Metalloproteinases
	Alzheimers Disease Pathway
	Germ Cell-Sertoli Cell Junction Dynamics

2 BioSystems Pathways for A2M

	Complement and Coagulation Cascades
	IL6-mediated signaling events

5/9 Reactome Pathways for A2M (see all 9)

	Hemostasis
	Signaling by Rho GTPases
	Intrinsic Pathway
	Response to elevated platelet cytosolic Ca2+
	Rho GTPase cycle

1 Kegg Pathway (Kegg details for A2M):

Complement and coagulation cascades

A2M for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for A2M

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

5/197 Interacting proteins for A2M (P01023^{2, 3} ENSP00000323929⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 197)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPA5	P11021²^,³, ENSP00000324173⁴	MINT-4054731 I2D: score=2 STRING: ENSP00000324173
SMN1	Q16637²^,³	MINT-8270794 I2D: score=2
SMN2	Q16637²^,³	MINT-8270794 I2D: score=2
TGIF1	Q15583²^,³, ENSP00000327959⁴	MINT-8272751 I2D: score=2 STRING: ENSP00000327959
ANXA7	P20073²^,³	MINT-8247932 I2D: score=2

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001869	negative regulation of complement activation, lectin pathway	IDA	12538697
GO:0002576	platelet degranulation	TAS	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0007597	blood coagulation, intrinsic pathway	TAS	--

A2M 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

A2M for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for A2M

2 DrugBank Compounds for A2M About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Bacitracin	--	1405-87-4	target	inhibitor	6165617 42903 6187372 6184373 6162847
Becaplermin	c-sis (see all 5)	165101-51-9	target	--	1697862 7541796

10 Novoseek chemical compound relationships for A2M gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha 2 macroglobulin	97.7	16	9837695 (2), 10072300 (2), 17650594 (2), 11729951 (1) (see all 8)
methylamine	51.3	3	1383300 (1), 10441378 (1)
thermolysin	45.2	2	8730413 (1)
fibrinogen	19.1	4	16458339 (1), 10556563 (1), 8127792 (1)
serine	13.6	1	9837695 (1)
heparin	1.08	1	1725279 (1)
cholesterol	0	1	17096854 (1)
lysine	0	2	9388263 (1)
calcium	0	1	9030194 (1)
tyrosine	0	1	9459492 (1)

Search CenterWatch for drugs/clinical trials and news about A2M / A2MG

(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 A2M gene:

NM_000014.4

Unigene Cluster for A2M:

Alpha-2-macroglobulin

Hs.212838 [show with all ESTs]

Unigene Representative Sequence: CR749334

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

ENST00000543436 ENST00000495442 ENST00000495709 ENST00000318602(uc001qvk.1 uc009zgk.1)

ENST00000545828 ENST00000542567 ENST00000462568 ENST00000546069 ENST00000472360

ENST00000539638 ENST00000404455 ENST00000467091 ENST00000497324

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat A2M

Additional cDNA sequence:

AB209614.2 AK307832.1 AK312482.1 AY591530.1 BC026246.1 BC040071.1 BX647329.1 CR749334.1

M11313.1 M36501.1

24/64 DOTS entries (see all 64):

DT.100708503 DT.95325241 DT.95336016 DT.100731219 DT.100034913 DT.92470853 DT.100708514 DT.121177592

DT.100708507 DT.100708502 DT.92065134 DT.121177572 DT.320316 DT.75100459 DT.100708516 DT.121177579

DT.121177625 DT.40273850 DT.91890739 DT.92353667 DT.95336027 DT.95336071 DT.121177668 DT.121177699

24/1603 AceView cDNA sequences (see all 1603):

AA025398 AA486118 CA398021 T64024 BF095566 AJ708831 AA384894 AW848321

CA427526 CB044229 BM955136 BG766679 AU134432 BM708353 BP345930 AI298235

BQ883133 M78048 T03355 AI660690 CD721781 AW849093 CA436047 BM726289

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for A2M (see all 14) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	^	14a	·
SP1:															-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP2:
SP3:
SP4:
SP5:

ExUns:	14b	^	15a	·	15b	^	16	^	17a	·	17b	^	18a	·	18b	^	19	^	20a	·	20b	·	20c	^	21a	·	21b	^	22	^	23	^	24a	·	24b	^	25	^	26	^	27a	·	27b	^	28a	·	28b	^	29	^	30	^
SP1:	-		-		-		-		-		-		-		-		-		-		-		-		-
SP2:
SP3:
SP4:
SP5:

ExUns:	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for A2M

(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

A2M expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTTGATTTA

About this image

A2M expression in embryonic tissues and stem cells

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

10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Cervical Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Sacral Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Thoracic Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Brain

Brain

Eye

Liver

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

See A2M Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for A2M

SOURCE GeneReport for Unigene cluster: Hs.212838

UniProtKB/Swiss-Prot: A2MG_HUMAN, P01023

Tissue specificity: Secreted in plasma

SABiosciences Expression via Pathway-Focused PCR Arrays including A2M:

Nephrotoxicity in human mouse rat

Alzheimer's Disease in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat A2M

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for A2M

(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 animals.

Orthologs for A2M gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	A2M¹	alpha-2-macroglobulin	64.11(n) 59.5(a)		418251 XM_416476.3 XP_416476.3
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	62(a) 53(a) (see all 3)	many ↔ many many ↔ many (see all 3)	2(196323878-196344148) 2(196353826-196426421)
zebrafish (Danio rerio)	Actinopterygii	LOC100006925¹	alpha-2-macroglobulin-like	52.01(n) 42.55(a)		100006925 XM_001921542.2 XP_001921577.2
honey bee (Apis mellifera)	Insecta	--	--	23(a)	1 → many	Group7.14(1063-10516)

ENSEMBL Gene Tree for A2M (if available)
TreeFam Gene Tree for A2M (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for A2M gene

C5² A2ML1² C4B² C4A² CPAMD8² CD109² C3² PZP²

5 SIMAP similar genes for A2M using alignment to 7 protein entries: A2MG_HUMAN (see all proteins):

PZP DKFZp686C0338 OVOS2 A2ML1 OVOS1

A2M for paralogs About GeneDecksing

(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)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800434^1,2	C	non-pathogenic	9028119(-)	`TCTACG/ATGTAG`	2	/H /R	mis¹		2		NA	4
rs669^1,2	C,F,H,	other	9012802(-)	`CAGAGA/GTCAAG`	2	I V	mis¹ ese³		36		NA MN EA NS WA EU	4433
rs3026229^1,2	C,F,O,A,H,	--	9000433(-)	`TTACAC/ACAAAA`	1	--	ds500¹		13		NA NS EA WA CSA	908
rs1805688^1,2	C,F,H,	--	9000633(-)	`AAGTGT/CAAAGT`	1	--	ds500¹		9		NS EA WA	1306
rs111482363^1,2	C	--	9000971(+)	`GATCTC/G/TTGACA`	1	--	int¹		1		CSA	1
rs1805687^1,2	C,	--	9001034(-)	`TAAGGC/GAAAGA`	1	--	int¹ trp³		0	--	--	--	--
rs111745302^1,2	C	--	9001309(+)	`TGGCTA/G/TACCTT`	1	--	int¹		1		CSA	1
rs111593599^1,2	C	--	9001311(+)	`GCTTAC/G/TCTTTG`	1	--	spd¹		1		CSA	1
rs111819233^1,2	C	--	9001868(+)	`ACTCAC/G/TCCGTC`	1	--	spd¹		1		CSA	1
rs3026228^1,2	C,F,H,	--	9002169(-)	`TATGCG/ATTATG`	1	--	int¹		6		NS EA WA	538

HapMap Linkage Disequilibrium report for A2M (9220260 - 9268825 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for A2M
1 CNV: 4768
Human Gene Mutation Database (HGMD): A2M

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(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

A2M for disorders           About GeneDecksing

OMIM gene information: 103950
OMIM disorders: 104300
20/50 diseases for A2M (see all 50):    About MalaCards

emphysema due to alpha-2-macroglobulin deficiency alzheimer's disease alpha 1-antitrypsin deficiency disseminated intravascular coagulation

ovarian hyperstimulation syndrome essential tremor fatty liver disease nephrotic syndrome

tremor rheumatoid arthritis emphysema myocardial infarction

liver disease cystic fibrosis myeloid malignancy mastitis

1 disease from the University of Copenhagen DISEASES database for A2M:

Alzheimer's disease

8 Novoseek disease relationships for A2M gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	32.2	8	10688047 (3), 11106172 (1), 1709116 (1), 14637088 (1) (see all 6)
senile plaques	30.3	5	10072300 (1), 7686641 (1)
nephrotic syndrome	14.3	2	9453001 (1), 8730413 (1)
inflammation	7.25	2	1725449 (1), 7519632 (1)
rheumatoid arthritis	6.99	1	9714181 (1)
skin lesion	5.54	1	9177609 (1)
tumors	0	2	9714181 (1), 1712633 (1)
melanoma	0	4	1712633 (2), 9217325 (1)

Genatlas disease: A2M

emphysema with lung destruction II (macroglobulin,alpha-2- deficiency)

Genetic Association Database (GAD): A2M
Human Genome Epidemiology (HuGE) Navigator: A2M (57 documents)

Export disorders for A2M 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)
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PubMed articles for A2M gene, integrated from 9 sources (see all 282):
(articles sorted by number of sources associating them with A2M)

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

Human alpha2-macroglobulin: genotype-phenotype relation. (PubMed id 14637088)^{1, 4, 9} Birkenmeier G....Reichenbach A. (2003)
Cloning of the human alpha 2-macroglobulin gene and detection of mutations in two functional domains: the bait region and the thiolester site. (PubMed id 1370808)^{1, 2, 9} Poller W.... Olek K. (1992)
Structure of the human alpha-2 macroglobulin gene and its promotor. (PubMed id 1374237)^{1, 2, 9} Matthijs G....Marynen P. (1992)
Human alpha2-macroglobulin is composed of multiple domains, as predicted by homology with complement component C3. (PubMed id 17608619)^{1, 2} Doan N. and Gettins P.G.W. (2007)
Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. (PubMed id 16384981)^{1, 4} Haines J.L....Pericak-Vance M.A. (2006)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
[No evidence for genetic association between alpha-2 macroglobulin I1000V polymorphism and sporadic Alzheimer's disease in two independent Chinese populations] (PubMed id 15793779)^{1, 4} Sun Y....Ma C. (2005)
Alpha(2) macroglobulin, a PSA-binding protein, is expressed in human prostate stroma. (PubMed id 15611997)^{1, 2} Lin V.K.... Roehrborn C.G. (2005)
Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese. (PubMed id 16040006)^{1, 4} Bian L....He L. (2005)
Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients. (PubMed id 15931081)^{1, 4} Cai L....Ren D. (2005)

(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)
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Entrez Gene: 2	HGNC: 7	AceView: A2M	Ensembl:ENSG00000175899	euGenes: HUgn2
ECgene: A2M	Kegg: 2	H-InvDB: A2M

(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 A2M	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for A2M	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Alpha_2-macroglobulin

Intellectual Property for A2M 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 A2M gene:
Search GeneIP for patents involving A2M

GeneCards and IP:
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