ENSG00000175899


Homo sapiens

Features
Gene ID: ENSG00000175899
  
Biological name :A2M
  
Synonyms : A2M / alpha-2-macroglobulin / P01023
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p13.31
Gene start: 9067664
Gene end: 9116229
  
Corresponding Affymetrix probe sets: 1558450_at (Human Genome U133 Plus 2.0 Array)   217757_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000323929
Ensembl peptide - ENSP00000385710
Ensembl peptide - ENSP00000438599
Ensembl peptide - ENSP00000445717
NCBI entrez gene - 2     See in Manteia.
OMIM - 103950
RefSeq - XM_006719056
RefSeq - NM_000014
RefSeq - NM_001347423
RefSeq Peptide - NP_000005
RefSeq Peptide - NP_001334352
swissprot - P01023
swissprot - F5H1E8
swissprot - F8W7L3
swissprot - H0YFH1
Ensembl - ENSG00000175899
  
Related genetic diseases (OMIM): 104300 - {Alzheimer disease, susceptibility to}, 104300
  614036 - Alpha-2-macroglobulin deficiency, 614036
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000039764Gallus gallus
 ENSGALG00000031659Gallus gallus
 A2mENSMUSG00000030111Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PZP / P20742 / PZP, alpha-2-macroglobulin likeENSG0000012683873
A2ML1 / A8K2U0 / alpha-2-macroglobulin like 1ENSG0000016653539
CPAMD8 / Q8IZJ3 / C3 and PZP like, alpha-2-macroglobulin domain containing 8ENSG0000016011128
CD109 / Q6YHK3 / CD109 moleculeENSG0000015653527
C3 / P01024 / complement C3ENSG0000012573023
C4B / P0C0L5 / complement C4B (Chido blood group)ENSG0000022438923
C4A / P0C0L4 / complement C4A (Rodgers blood group)ENSG0000024473123
C5 / P01031 / complement C5ENSG0000010680420


Protein motifs (from Interpro)
Interpro ID Name
 IPR001599  Alpha-2-macroglobulin
 IPR002890  Alpha-2-macroglobulin, N-terminal
 IPR008930  Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
 IPR009048  Alpha-macroglobulin, receptor-binding
 IPR010916  TonB box, conserved site
 IPR011625  Alpha-2-macroglobulin, N-terminal 2
 IPR011626  Alpha-macroglobulin complement component
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR019565  Alpha-2-macroglobulin, thiol-ester bond-forming
 IPR019742  Alpha-2-macroglobulin, conserved site
 IPR036595  Alpha-macroglobulin, receptor-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001869 negative regulation of complement activation, lectin pathway IDA
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007597 blood coagulation, intrinsic pathway TAS
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0022617 extracellular matrix disassembly TAS
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0048863 stem cell differentiation IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004866 endopeptidase inhibitor activity IEA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005096 GTPase activator activity TAS
 molecular_functionGO:0005102 signaling receptor binding IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019838 growth factor binding IDA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019959 interleukin-8 binding IPI
 molecular_functionGO:0019966 interleukin-1 binding IDA
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0043120 tumor necrosis factor binding IDA
 molecular_functionGO:0048306 calcium-dependent protein binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Degradation of the extracellular matrix
Rho GTPase cycle
HDL assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000137745 MMP13 / P45452 / matrix metallopeptidase 13  / complex / reaction
 ENSG00000149968 MMP3 / P08254 / matrix metallopeptidase 3  / complex / reaction
 ENSG00000164344 KLKB1 / P03952 / kallikrein B1  / complex / reaction
 ENSG00000175899 A2M / P01023 / alpha-2-macroglobulin  / complex
 ENSG00000196611 MMP1 / P03956 / matrix metallopeptidase 1  / complex / reaction






 

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