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A2M Gene

protein-coding   GIFtS: 69
GCID: GC12M009220

Alpha-2-Macroglobulin

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
alpha-2-macroglobulin1 2     FWP0072
CPAMD52 3     S863-72
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 52 3     alpha-2-M2
A2MD2 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for A2M Gene:
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)

GeneCards Summary for A2M Gene:
A2M (alpha-2-macroglobulin) is a protein-coding gene. Diseases associated with A2M include alzheimer's disease, and alpha-2-macroglobulin deficiency. GO annotations related to this gene include growth factor binding and enzyme binding. An important paralog of this gene is C5.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for A2M

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for A2M at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn55, Asn70, Asn247, Asn396, Asn410, Asn869, Asn991, Asn1424
  • Modification sites at PhosphoSitePlus

  • See A2M Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000005.2  
    ENSEMBL proteins: 
     ENSP00000443302   ENSP00000323929   ENSP00000438599   ENSP00000445717   ENSP00000385710  
    Reactome Protein details: P01023

    A2M Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for A2M
    Sino Biological Cell Lysate for A2M
    ProSpec Recombinant Protein for A2M
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    A2M Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR010916 TonB_box_CS
     IPR014756 Ig_E-set
     IPR019742 MacrogloblnA2_CS
     IPR001599 Macroglobln_a2
     IPR011626 A2M_comp

    Graphical View of Domain Structure for InterPro Entry P01023

    ProtoNet protein and cluster: P01023

    3 Blocks protein domains:
    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


    A2M for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI18485748
    GO:0004866endopeptidase inhibitor activity ----
    GO:0004867serine-type endopeptidase inhibitor activity IDA12538697
    GO:0005515protein binding IPI14687906
    GO:0019838growth factor binding IDA9398211
         
    A2M for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for A2M:
     Decreased viability with carbo  Lamellipodia cells  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for A2M
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for A2M

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    hsa-mir-98-5p (MIRT027430), hsa-mir-122-5p (MIRT023224), hsa-mir-128-3p (MIRT021948)

    Block miRNA regulation of human, mouse, rat A2M using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for A2M


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    A2MG_HUMAN, P01023: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    lysosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0005829cytosol TAS--
    GO:0031093platelet alpha granule lumen TAS--
    GO:0070062extracellular vesicular exosome IDA--

    A2M for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for A2M About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Intrinsic Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Lipoprotein metabolism
    Lipoprotein metabolism0.59
    HDL-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    4Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    5Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for A2M
        A-beta Uptake & Degradation
    Blood Coagulation Signaling Pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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 Reactome Pathways for A2M
        Platelet degranulation
    Intrinsic Pathway
    Degradation of the extracellular matrix
    HDL-mediated lipid transport
    Rho GTPase cycle


    1 Kegg Pathway  (Kegg details for A2M):
        Complement and coagulation cascades


    A2M for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including A2M: 
              Nephrotoxicity in human mouse rat
              Alzheimer's Disease in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for A2M

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

    Selected Interacting proteins for A2M (P010232, 3 ENSP000003239294) via UniProtKB, MINT, STRING, and/or I2D (see all 203)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA5P110212, 3, ENSP000003241734MINT-4054731 I2D: score=2 STRING: ENSP00000324173
    SMN1Q166372, 3MINT-8270794 I2D: score=2 
    SMN2Q166372, 3MINT-8270794 I2D: score=2 
    TGIF1Q155832, 3, ENSP000003279594MINT-8272751 I2D: score=2 STRING: ENSP00000327959
    ANXA7P200732, 3MINT-8247932 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001869negative regulation of complement activation, lectin pathway IDA12538697
    GO:0002576platelet degranulation TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--

    A2M for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for A2M (A2MG)

    3 DrugBank Compounds for A2M    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bacitracin-- 1405-87-4targetinhibitor6165617 42903 6187372 6184373 6162847
    Becaplerminc-sis (see all 5)165101-51-9target--1697862 7541796
    Ocriplasmin -- 1048016-9-6targetligand--

    10 Novoseek inferred 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)



    A2M for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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      QuantiFast Probe-based Assays in human, mouse, rat A2M

    Additional mRNA sequence: 

    AB209614.2 AK307832.1 AK312482.1 AY591530.1 BC026246.1 BC040071.1 BX647329.1 CR749334.1 
    M11313.1 M36501.1 

    Selected 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.121177572  DT.320316  DT.75100459  DT.92065134  DT.100708516  DT.121177625 
    DT.40273850  DT.91890739  DT.92353667  DT.95336027  DT.95336071  DT.121177579  DT.121177668  DT.121177699 

    Selected AceView cDNA sequences (see all 1603):

    BF095566 CA398021 AA486118 BQ883133 AW848321 T64024 BM708353 AI298235 
    BP345930 CB044229 M78048 T03355 AI660690 CD721781 AW849093 CA436047 
    BM726289 AI810735 AI219884 AL042948 BU617315 N75440 AW376550 BM955134 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    A2M expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTGATTTA
    A2M Expression
    About this image


    A2M expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hepatocytes Liver Lobule
             Liver Lobule
             Hepatocyte-like cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
    A2M Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    A2M Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.212838

    UniProtKB/Swiss-Prot: A2MG_HUMAN, P01023
    Tissue specificity: Secreted in plasma

        Pathway & Disease-focused RT2 Profiler 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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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for A2M gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia A2m1 , 5 alpha-2-macroglobulin1, 5 78.19(n)1
    73.39(a)1
      6 (57.49 cM)5
    2323451  NM_175628.31  NP_783327.21 
     1216361735 
    chicken
    (Gallus gallus)
    Aves A2M1 alpha-2-macroglobulin 64.21(n)
    59.71(a)
      418251  XM_416476.4  XP_416476.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    53(a)
    53(a)
    many ↔ many
    many ↔ many
    2(196279916-196430803)
    2(196353826-196426421)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia a2m1 alpha-2-macroglobulin 57.27(n)
    52.21(a)
      619586  XM_002938504.2  XP_002938550.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000069251 alpha-2-macroglobulin-like 53.89(n)
    44.6(a)
      100006925  XM_001921542.3  XP_001921577.3 


    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  C4B2  C4A2  A2ML12  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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for A2M (see all 1175)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004331,2,,4
    Cnon-pathogenic19111309(-) TGGCTG/ATGGAG 2 /Y /C mis12Minor allele frequency- A:0.00NA 4
    rs18004341,2,,4
    Cnon-pathogenic19126539(-) TCTACG/ATGTAG 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs6691,2,,4
    C,F,Hother19111226(-) CAGAGA/GTCAAG 2 I V mis1 ese336Minor allele frequency- G:0.27NA MN EA NS WA EU 4433
    rs57963381,2
    C--9007217(+) gtcttAAAA/-  
            
    aaaaa
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs1472513061,2
    --9098850(+) ATCAGC/TGGCAG 1 -- ds50010--------
    rs30262291,2
    C,F,O,A,H--9098862(-) TTACAC/ACAAAA 1 -- ds500113Minor allele frequency- A:0.12NA NS EA WA CSA 908
    rs1406788861,2
    C--9098866(+) GGTGTA/GACATA 1 -- ds50010--------
    rs18056671,2
    C,F,A,H--9098928(-) GAACAT/GGTCAT 1 -- ds500118Minor allele frequency- G:0.31NA NS EA WA CSA 932
    rs18056881,2
    C,F,H--9099062(-) AAGTGT/CAAAGT 1 -- ds50019Minor allele frequency- C:0.05NS EA WA 1306
    rs1931442911,2
    --9099132(+) AGACCA/GACATC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for A2M (9220260 - 9268825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for A2M:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898738CNV Loss21882294
    nsv832327CNV Loss17160897
    nsv527404CNV Gain19592680

    Human Gene Mutation Database (HGMD): A2M
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing A2M
    DNA2.0 Custom Variant and Variant Library Synthesis for A2M

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 103950   
    OMIM disorders: 614036  104300  
    Selected diseases for A2M (see all 51):    
    About MalaCards
    alzheimer's disease    alpha-2-macroglobulin deficiency    senile systemic amyloidosis    argyrophilic grain disease
    cor pulmonale    ovarian hyperstimulation syndrome    cerebral amyloid angiopathy    essential tremor
    alpha 1-antitrypsin deficiency    tremor    mastitis    disseminated intravascular coagulation
    nephrotic syndrome    amyloidosis    venous thrombosis    acute pancreatitis
    fatty liver disease    thromboembolism    age related macular degeneration    peritonitis

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

    A2M for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred 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 10 sources (see all 303):
    (articles sorted by number of sources associating them with A2M)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human alpha2-macroglobulin: genotype-phenotype relation. (PubMed id 14637088)1, 4, 9 Birkenmeier G....Reichenbach A. (Exp. Neurol. 2003)
    2. 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. (Hum. Genet. 1992)
    3. Structure of the human alpha-2 macroglobulin gene and its promotor. (PubMed id 1374237)1, 2, 9 Matthijs G....Marynen P. (Biochem. Biophys. Res. Commun. 1992)
    4. Association between haplotype -88G/25G in A2M with Alzheimer's disease. (PubMed id 20493925)1, 4 Song H....Jia J. (Neurosci. Lett. 2010)
    5. Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. (PubMed id 20587546)1, 4 Nalpas B....Abel L. (Gut 2010)
    6. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Lack of interaction between LRP1 and A2M polymorphisms for the risk of Alzheimer disease. (PubMed id 20637261)1, 4 Bruno E....Zappia M. (Neurosci. Lett. 2010)
    9. An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. (PubMed id 19105203)1, 4 Edwards T.L....Ritchie M.D. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    10. Genetic association between low-density lipoprotein receptor-related protein gene polymorphisms and Alzheimer's disease in Chinese Han population. (PubMed id 18706476)1, 4 Zhou Y.T....Hong Z. (Neurosci. Lett. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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