Gene content    
AIM2 ( by HUGO)
Absent In Melanoma
Tumor suppressor gene
Absent In Melanoma 2
PYHIN4
Interferon-Inducible Protein AIM2
NCBI: 1q22    Ensembl: 1q23.2
AIM2_HUMANSize: 343 amino acidsMass: 38954 Da

  • Subunit: Self-associates; forms homooligomers in response to cytosolic dsDNA and the dsDNA seems to serve as oligomerization platform. Component of the AIM2 inflammasome. Interacts with PYCARD, IFI16, EIF2AK2/PKR and MAPRE1 Miscellaneous: Defects in AIM2 may be a cause of microsatellite unstable colon cancers Sequence caution: Sequence=AAH10940.1; Type=Frameshift; Positions=340;
  • Tissue specificity: Expressed in spleen, small intestine, peripheral blood leukocytes, and testis [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including AIM2: Antiviral Response in human mouse rat Inflammasomes in human mouse rat Primer Products: [IMAGE] OriGene
  • Function:
    UniProtKB/Swiss-Prot Summary: AIM2_HUMAN, O14862 Function: Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity Enzyme regulation: In absence of dsDNA DAPIN and HIN-20 domain can interact inducing a closed conformation; an autoinhibitory mechanism is proposed in which binding to dsDNA liberates the DAPIN domain for homotypic downstream signaling interactions with PYCARD
  • Similarity:
    Belongs to the HIN-200 family
                          
    Contains 1 DAPIN domain
                          
    Contains 1 HIN-200 domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR004020DAPINPyrinDomain
    IPR004021HIN200/IF120xHIN-200/IF120xDomain
    IPR011029DEATH-like_domDEATH-likeDomain
    IPR012340NA-bd_OB-foldNucleic acid-binding, OB-fold, subgroupDomain
    BlocksIPB004020Pyrin domainPyrin domain
    IPB004021HIN-200/IF120x domainHIN-200/IF120x domain

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process activation of innate immune response IDA GOA 19158675
    immune response TAS GOA 9242382
    interleukin-1 beta secretion IMP GOA 19158679
    negative regulation of NF-kappaB transcription factor activity IDA GOA 16432157
    positive regulation of interleukin-1 beta production IDA GOA 19158675
    positive regulation of interleukin-1 beta secretion IDA GOA 19158679
    positive regulation of NF-kappaB transcription factor activity IDA GOA 19158675
    positive regulation of protein oligomerization IDA GOA 19158676
    pyroptosis IDA GOA 19158675
    tumor necrosis factor-mediated signaling pathway IDA GOA 16432157
    Cellular Component cytoplasm IDA GOA 19158676
    Molecular Function double-stranded DNA binding IDA GOA 19158675
    identical protein binding IPI GOA 19158676
    protein binding IPI GOA 19158676

    AIM2 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene