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FLASH GENE
Symbol AIM2 contributors: shn/ - updated : 29-05-2018
HGNC name absent in melanoma 2
HGNC id 357
Location 1q23.1      Physical location : 159.032.274 - 159.046.647
Synonym name IFN-inducible protein absent in melanoma 2
Synonym symbol(s) PYHIN4, RP11-520H16.3
DNA
TYPE functioning gene
STRUCTURE 14.37 kb     6 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - D1S506 - D1S1600 - AIM2 - D1S2635 - D1S270 - qter
Physical map
LOC391107 1 similar to Olfactory receptor 10K1 OR10T1P 1q25.3 olfactory receptor, family 10, subfamily T, member 1 pseudogene LOC391109 1 similar to Olfactory receptor 10K1 LOC343406 1q23.1 similar to Olfactory receptor 10R2 LOC391110 1 similar to seven transmembrane helix receptor OR10R1P 1q25.3 olfactory receptor, family 10, subfamily R, member 1 pseudogene LOC391111 1 similar to Heat shock protein HSP 90-alpha (HSP 86) LOC391112 1 similar to Olfactory receptor 6Y1 LOC128366 1q23.1 similar to Olfactory receptor 6P1 LOC128367 1q23.1 similar to seven transmembrane helix receptor LOC128368 1q23.1 similar to Olfactory receptor 10Z1 SPTA1 1q21 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) LOC391113 1 similar to Olfactory receptor 6K2 LOC391114 1 similar to Olfactory receptor 6K3 LOC128370 1q23.1 similar to seven transmembrane helix receptor LOC391115 1 similar to olfactory receptor GA_x6K02T2P20D-21063569-21062619 LOC128371 1q23.1 similar to Olfactory receptor 6K6 LOC128372 1q23.1 similar to Olfactory receptor 6N1 LOC391116 1 similar to Olfactory receptor 6N2 MNDA 1q22 myeloid cell nuclear differentiation antigen LOC284676 1q23.1 similar to interferon-inducible protein X alpha 1 isoform IFIX 1q23.1 interferon-inducible protein X IFI16 1q22 interferon, gamma-inducible protein 16 AIM2 1q22 absent in melanoma 2 NECL1 1q21.2-22 absent in melanoma 2 FY 1q21-q22 Duffy blood group LOC127150 1q23.1 similar to mucosal pentraxin LOC391117 1 similar to olfactory receptor MOR267-8 FCER1A 1q23 Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide LOC391118 1 similar to olfactory receptor MOR267-3 LOC391119 1 similar to olfactory receptor GA_x6K02T2R7CC-664297-665229 LOC343409 1q23.1 similar to Olfactory receptor 10J1 (Olfactory receptor-like protein HGMP07J) LOC391120 1 similar to olfactory receptor MOR267-3 LOC391121 1 similar to olfactory receptor MOR267-3 OR10J1 1q22 olfactory receptor, family 10, subfamily J, member 1 LOC127385 1q23.1 similar to Olfactory receptor 10J5 LOC391122 1 similar to porcine serum amyloid P component (SAP) APCS 1q23.2 amyloid P component, serum LOC339511 1q23.1 similar to Olfactory receptor 10J6
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1485 - 343 in a wide variety of tumor types, including neuroectodermal tumors, as well as breast, ovarian, glioblastoma and colon carcinomas 2004 15076139
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  lowly
Lymphoid/Immunespleen   predominantly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a conserved sequence of approximatively 200 AAs with other interferon-inducible genes, signature of HIN-200 family (hematopoietic IFN-inducible nuclear proteins)
  • a dapin domain
  • a HIN-200 domain
  • an amino-terminal pyrin domain
  • a oligonucleotide-binding domain
  • a carboxy-terminal oligonucleotide domain
  • an oligosaccharide-binding domain
  • mono polymer homomer , heteromer
    HOMOLOGY
    interspecies ortholog to AIM2, Pan troglodytes
    ortholog to Aim2, Mus musculus
    ortholog to Aim2, Rattus norvegicus
    Homologene
    FAMILY
  • HIN-200 family of interferon (IFN)-inducible proteins
  • CATEGORY immunity/defense , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • expressed and presented by human glioma cells
  • playing a putative role in tumorigenic reversion and may be controling cell proliferation
  • could induce tumor cell apoptosis
  • suppresses the proliferation and tumorigenicity of human breast cancer cells, and inhibits mammary tumor growth in an orthotopic tumor model
  • suppresses nuclear factor-kappaB transcriptional activity and desensitizes tumor necrosis factor-alpha-mediated nuclear factor-kappaB activation
  • an important inflammasome component that senses potentially dangerous cytoplasmic DNA, leading to activation of the ASC pyroptosome and caspase-1
  • a major activator of caspase-1 in response to cytoplasmic DNA
  • a receptor for cytosolic dsDNA, which forms a new inflammasome complex with ASC to activate caspase-1-mediated processing of IL1b
  • activation of the AIM2 inflammasome is important in innate immunity to vaccinia virus
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component homodimerise via the amino-terminal (PAAD/DAPIN) region and heterodimerise with the related IFI 16 protein
    INTERACTION
    DNA
  • HIN200 domain the pyrin domain binds to cytosolic DNA
  • RNA
    small molecule
    protein
  • the pyrin domain the pyrin domain binds PYD and CARD domain containing (PYCARD also known as ASC)
  • can activate caspase-1 to produce the active IL1b cytokine in an PYCARD-dependent manner
  • CASP1 interacting with PYCARD, AIM2 and NLRP3 (PYCARD inflammasomes, including AIM2 and NLRP3, are critical for CASP1 activation induced by S. pneumoniae)
  • cell & other
    REGULATION
    activated by cytoplasmic DNA
    induced by in HL60 cells by interferon gamma
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation     loss of function
    inactivation of AIM2 by genetic and epigenetic mechanisms is frequent in MMR-deficient colorectal cancers, thus suggesting that AIM2 is a mutational target relevant for the progression of MSI-H colorectal cancers
    Susceptibility
  • a mutational target relevant for the progression of microsatellite instability (MSI-H) colorectal cancers
  • Variant & Polymorphism other
  • a high frequency of frameshift and missense mutations in primary MSI-H colon cancers (9/20) and cell lines
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    NLRC4 and AIM2 inflammasomes are potential therapeutic targets for stroke and provide new insights into how the inflammatory response is regulated after an acute injury to the brain
    cancerbrain 
    could be used as a tumor antigen target for monitoring vaccine trials or to develop antigen specific active immunotherapy for glioma patients
    ANIMAL & CELL MODELS
  • Knockdown of AIM2 by short interfering RNA reduced inflammasome/pyroptosome activation by cytoplasmic DNA in human and mouse macrophages