AIM2 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of AIM2 at tissue level.

III. Associated gene sets

GO_0043029Biological processT cell homeostasis
GO_0071466Biological processcellular response to xenobiotic stimulus
GO_0002221Biological processpattern recognition receptor signaling pathway
GO_0006954Biological processinflammatory response
GO_0045087Biological processinnate immune response
GO_1904270Biological processpyroptosome complex assembly
GO_0051607Biological processdefense response to virus
GO_0006974Biological processDNA damage response
GO_0070269Biological processpyroptotic inflammatory response
GO_0050795Biological processregulation of behavior
GO_0032088Biological processnegative regulation of NF-kappaB transcription factor activity
GO_0035458Biological processcellular response to interferon-beta
GO_0051898Biological processnegative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
GO_0032731Biological processpositive regulation of interleukin-1 beta production
GO_0006955Biological processimmune response
GO_0051092Biological processpositive regulation of NF-kappaB transcription factor activity
GO_0070050Biological processneuron cellular homeostasis
GO_0140970Biological processAIM2 inflammasome complex assembly
GO_2001056Biological processpositive regulation of cysteine-type endopeptidase activity
GO_0002218Biological processactivation of innate immune response
GO_0007420Biological processbrain development
GO_0050729Biological processpositive regulation of inflammatory response
GO_0002230Biological processpositive regulation of defense response to virus by host
GO_0033209Biological processtumor necrosis factor-mediated signaling pathway
GO_0005739Cellular componentmitochondrion
GO_0005654Cellular componentnucleoplasm
GO_0097169Cellular componentAIM2 inflammasome complex
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0035861Cellular componentsite of double-strand break
GO_0038187Molecular functionpattern recognition receptor activity
GO_0003690Molecular functiondouble-stranded DNA binding
GO_0042802Molecular functionidentical protein binding
GO_0035591Molecular functionsignaling adaptor activity
GO_0140608Molecular functioncysteine-type endopeptidase activator activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameAIM2
Protein nameAlternative protein AIM2
Interferon-inducible protein AIM2 (Absent in melanoma 2)
Absent in melanoma 2
Synonyms
DescriptionFUNCTION: Sensor component of the AIM2 inflammasome, which mediates inflammasome activation in response to the presence of double-stranded DNA (dsDNA) in the cytosol, leading to subsequent pyroptosis . Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation . Acts as a recognition receptor (PRR): specifically recognizes and binds dsDNA in the cytosol, and mediates the formation of the inflammasome polymeric complex composed of AIM2, CASP1 and PYCARD/ASC . Recruitment of pro-caspase-1 (proCASP1) to the AIM2 inflammasome promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), promoting cytokine secretion . In some cells, CASP1 activation mediates cleavage and activation of GSDMD, triggering pyroptosis without promoting cytokine secretion . Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner . Involved in the DNA damage response caused by acute ionizing radiation by mediating pyroptosis of intestinal epithelial cells and bone marrow cells in response to double-strand DNA breaks (By similarity). Mechanistically, AIM2 senses DNA damage in the nucleus to mediate inflammasome assembly and inflammatory cell death (By similarity). Also acts as a regulator of neurodevelopment via its role in the DNA damage response: acts by promoting neural cell death in response to DNA damage in the developing brain, thereby purging genetically compromised cells of the central nervous system (By similarity). Pyroptosis mediated by the AIM2 inflammasome in response to DNA damage is dependent on GSDMD without involving IL1B and IL18 cytokine secretion (By similarity). Also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). Can also trigger PYCARD/ASC-dependent, caspase-1-independent cell death that involves caspase-8 (CASP8) (By similarity). .; FUNCTION: Also acts as a tumor suppressor independently of its role in inflammatory response . Able to suppress overt cell proliferation in enterocytes: restricts stem cell proliferation in the intestinal mucosa in an inflammasome-independent manner, contributing to a decrease in the likelihood of colorectal cancer development (By similarity). AIM2 suppresses cell proliferation by inhibiting phosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Inhibits AKT1 phosphorylation both by inhibiting the activity of PRKDC/DNA-PK kinase and promoting dephosphorylation by PP2A phosphatase (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) homeostasis by promoting their stability: acts by preventing AKT1 activation (By similarity). Its role in Treg homeostasis is important to restain autoimmune diseases (By similarity). .

AccessionsL8E7Q5
ENST00000368129.3
Q5T3W0
O14862
ENST00000368130.9
ENST00000695580.1
A0A8Q3WLZ2
ENST00000695579.1
ENST00000411768.2