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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

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)
About This Section

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     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 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 senile systemic amyloidosis, and argyrophilic grain disease, and among its related super-pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and Coagulation Cascades. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for A2M at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01023

  • A2M Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    A2M Protein Expression
    REFSEQ proteins: NP_000005.2  
    ENSEMBL proteins: 
     ENSP00000443302   ENSP00000323929   ENSP00000438599   ENSP00000445717   ENSP00000385710  
    Reactome Protein details: P01023
    Human Recombinant Protein Products for A2M: 
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    OriGene Protein Over-expression Lysate for A2M
    OriGene MassSpec for A2M 
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    Novus Biologicals A2M Proteins
    Novus Biologicals A2M Lysates
    Sino Biological Recombinant Protein for A2M
    Sino Biological Cell Lysate for A2M 
    ProSpec Recombinant Protein for A2M
    Browse Proteins at Cloud-Clone Corp. 

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

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

    A2M for ontologies           About GeneDecksing



    A2M Antibody Products: 
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    Assay Products for A2M: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (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 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity ----
    GO:0004867serine-type endopeptidase inhibitor activity IDA12538697
    GO:0005515protein binding IPI14687906
    GO:0019838growth factor binding IDA9398211
    GO:0019899enzyme binding IPI11435418
         
    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 - Custom generated mouse model solutions for A2M 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for A2M

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for A2M 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for A2M About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.59
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    4Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    5Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43

    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 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 CentralTM Interacting Genes and Proteins Networks for A2M

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

    5/203 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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (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)

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

    (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,
    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, Sirion Biotech, 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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    Additional mRNA 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.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 

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

    BM955136 BQ883133 BM708353 AI298235 CA427526 BF095566 AI660690 AA486118 
    BP345930 BG766679 AA384894 AW848321 T64024 CB044229 AJ708831 M78048 
    AU134432 T03355 CD721781 AW849093 CA436047 BM726289 AI810735 AI219884 

    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)      A2M embryonic expression: see
    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 
     5/24 selected tissues (see all 24) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Knee Normal Human Articular chondrocytes (knNHAC)   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Meninges
             Brain Pericytes   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Peripheral blood-derived early endothelial progenitor cells
             Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...
             Human Brain Microvascular Endothelial Cells (HBMEC)   
     
     Melanocytes (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   

    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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    (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 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia A2m1 , 5 alpha-2-macroglobulin1, 5 78.03(n)1
    73.05(a)1
      6 (57.49 cM)5
    2323451  NM_175628.31  NP_783327.21 
     1216361735 
    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 --
    --
    Uncharacterized protein
    53(a)
    53(a)
    possible ortholog
    possible ortholog
    2(196279916-196430803)
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea tep-16
    Protein TEP-1, isoform b
    23(a)
    1 → many
    I(14993821-15001680)


    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)
    About This Section
    Paralogs for A2M gene
    C52  C4B2  A2ML12  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, 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) 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

    10/1175 SNPs in A2M are shown (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
    VAR_0268204
    ----see VAR_0268202 N D mis40--------
    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

    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
    SABiosciences Cancer Mutation PCR Assays
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    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.)
    About This Section
    OMIM gene information: 103950   
    OMIM disorders: 104300  
    20/45 diseases for A2M (see all 45):    About MalaCards
    senile systemic amyloidosis    argyrophilic grain disease    cor pulmonale    ovarian hyperstimulation syndrome
    alzheimer's disease    cerebral amyloid angiopathy    essential tremor    alpha 1-antitrypsin deficiency
    tremor    mastitis    nephrotic syndrome    disseminated intravascular coagulation
    fatty liver disease    acute pancreatitis    macular degeneration    age related macular degeneration
    amyloidosis    thromboembolism    gingivitis    peritonitis

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

    A2M for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    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)
    About This Section

    PubMed articles for A2M gene, integrated from 9 sources (see all 295):
    (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. (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. (1992)
    3. Structure of the human alpha-2 macroglobulin gene and its promotor. (PubMed id 1374237)1, 2, 9 Matthijs G....Marynen P. (1992)
    4. Association between haplotype -88G/25G in A2M with Al zheimer's disease. (PubMed id 20493925)1, 4 Song H....Jia J. (2010)
    5. Interferon gamma receptor 2 gene variants are associa ted with liver fibrosis in patients with chronic hepatitis C infection. (PubMed id 20587546)1, 4 Nalpas B....Abel L. (2010)
    6. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Lack of interaction between LRP1 and A2M polymorphism s for the risk of Alzheimer disease. (PubMed id 20637261)1, 4 Bruno E....Zappia M. (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. (2008)
    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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2 HGNC: 7 AceView: A2M Ensembl:ENSG00000175899 euGenes: HUgn2
    ECgene: A2M Kegg: 2 H-InvDB: A2M

    (According to HUGE)
    About This Section
      --

    (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
    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.)
    About This Section
    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



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