InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: AIM2

Summary

InnateDB Gene

IDBG-103863.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AIM2

Gene Name

absent in melanoma 2

Synonyms

PYHIN4

Species

Homo sapiens

Ensembl Gene

ENSG00000163568

Encoded Proteins

IDBP-103865

absent in melanoma 2

IDBP-103867

absent in melanoma 2

IDBP-810845

absent in melanoma 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 19158675

AIM2 recognizes cytosolic double stranded DNA and forms a caspase-1-activating inflammasome with PYCARD (ASC).

PMID 20351693

AIM2 has a critical role in host innate immunity to intracellular pathogens where it is a crucial sensor of F. tularensis infection.

PMID 20351692

AIM2 inflammasome is essential for host defence against cytosolic bacteria and DNA viruses.

PMID 20401524

AIM2 is a newly discovered pattern recognition receptor (PRR) involved in the sensing of dangerous cytosolic DNA produced by infection with DNA viruses.

PMID 20457908

AIM2 is required for innate immune recognition of Francisella tularensis where AIM2-deficient mice display an increased susceptibility to F. tularensis infection compared with wild-type mice.

PMID 21562230

AIM2-containing inflammasomes are activated in response to cytosolic DNA, this response is augmented in keratinocytes from psoriatic lesions and contributes to the auto-inflammatory disease.

PMID 25641891

Single nucleotide polymorphisms in IFI16 and AIM2 are associated with Behçet disease .

InnateDB Annotation from Orthologs

Summary

PMID 20401524

[Mus musculus] Aim2 is uniquely involved in sensing infection with the intracellular bacteria Francisella tularensis and subsequently triggering caspase-1-mediated pro-inflammatory cytokine production and macrophage cell death, which activate other components of the immune system and eliminate the infected macrophages.

PMID 20457908

[Mus musculus] Aim2 is required for innate immune recognition of Francisella tularensis where Aim2-deficient mice display an increased susceptibility to F. tularensis infection compared with wild-type mice.

PMID 21562230

[Mus musculus] Aim2-containing inflammasomes are activated in response to cytosolic DNA; this response is augmented in keratinocytes from psoriatic lesions and contributes to the auto-inflammatory disease. (Demonstrated in human)

PMID 26590313

[Mus musculus] During influenza A virus infection, host-derived DNA accumulates in the lung microenvironment and is sensed by Aim2, which limits immune-mediated damage to infected tissues.

Entrez Gene

Summary

AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:159062484-159147096

Strand

Reverse strand

Band

q23.2

Transcripts

ENST00000368130	ENSP00000357112
ENST00000368129	ENSP00000357111
ENST00000411768
ENST00000481829
ENST00000612470	ENSP00000483485

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	6 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003690	double-stranded DNA binding
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0002218	activation of innate immune response
GO:0002230	positive regulation of defense response to virus by host
GO:0006915	apoptotic process
GO:0006954	inflammatory response
GO:0006955	immune response
GO:0032088	negative regulation of NF-kappaB transcription factor activity
GO:0032461	positive regulation of protein oligomerization
GO:0032731	positive regulation of interleukin-1 beta production
GO:0033209	tumor necrosis factor-mediated signaling pathway
GO:0035458	cellular response to interferon-beta
GO:0035690	cellular response to drug
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0050702	interleukin-1 beta secretion
GO:0050718	positive regulation of interleukin-1 beta secretion
GO:0051092	positive regulation of NF-kappaB transcription factor activity
GO:0070269	pyroptosis
GO:2001056	positive regulation of cysteine-type endopeptidase activity

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0097169	AIM2 inflammasome complex

Orthologs

Species

Mus musculus

Gene ID

Gene Order

ENSMUSG00000037860

View Gene Order

Pathways

NETPATH

REACTOME

REACT_75777

The AIM2 inflammasome pathway

REACT_75900

Inflammasomes pathway

REACT_6802

Innate Immune System pathway

REACT_75913

Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway

REACT_6900

Immune System pathway

KEGG

hsa04623

Cytosolic DNA-sensing pathway pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

Q5T3W0

UniProt Splice Variant

Entrez Gene

9447

UniGene

RefSeq

NM_004833

HUGO

HGNC:357

OMIM

604578

CCDS

CCDS1181

HPRD

IMGT

EMBL

AL035403 AL359753 AL451134

GenPept

RNA Seq Atlas

9447