AIM2 absent in melanoma 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AIM2provided by HGNC
Official Full Name: absent in melanoma 2provided by HGNC
Primary source: HGNC:HGNC:357
See related: Ensembl:ENSG00000163568 MIM:604578
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PYHIN4
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]
Expression: Biased expression in lymph node (RPKM 9.4), appendix (RPKM 5.0) and 5 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1q23.1-q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (159059226..159132351, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (159028790..159046685, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Enforced expression of IFI16-b inhibits the activation of AIM2 inflammasome, whereas knockdown of IFI16-b augments interleukin-1b secretion triggered by dsDNA but not dsRNA Thus, cytoplasm-localized IFI16-b is functionally equivalent to mouse p202 that exerts an inhibitory effect on AIM2 inflammasome.
Title: Inhibition of AIM2 inflammasome activation by a novel transcript isoform of IFI16.
In conclusion, our findings identify a novel molecular mechanism whereby the activation of AIM2 could lead to the activation of the non-canonical inflammasome (caspase-4 dependent) that induces the release of IL-1alpha responsible for the release of TGF-beta from PBMCs of idiopathic pulmonary fibrosis patients.
Title: Activation of the Absent in Melanoma 2 Inflammasome in Peripheral Blood Mononuclear Cells From Idiopathic Pulmonary Fibrosis Patients Leads to the Release of Pro-Fibrotic Mediators.
Here, the authors used clustered regularly interspaced short palindromic repeat (CRISPR)-CRISPR-associated protein 9 (Cas9) genome editing to demonstrate that the dsDNA receptor absent in melanoma 2 (AIM2) is required for secretion of IL-1beta following human cytomegalovirus infection.
Title: Human Cytomegalovirus Immediate Early 86-kDa Protein Blocks Transcription and Induces Degradation of the Immature Interleukin-1β Protein during Virion-Mediated Activation of the AIM2 Inflammasome.
SIRT1 enabled HPV-infected cervical cancer cells to continue growing by nullifying AIM2 inflammasome-mediated immunity
Title: Cervical cancer is addicted to SIRT1 disarming the AIM2 antiviral defense.
AIM2 inflammasome-mediated pyroptosis is an important mechanism of neuronal cell death and it could play an important role in limiting EV-A71 replication.
Title: AIM2 Inflammasome-Mediated Pyroptosis in Enterovirus A71-Infected Neuronal Cells Restricts Viral Replication.
In humans with acute and chronic Hepatitis B exists activation of the AIM2 and IFI16 (in acute Hepatitis B), and the activation of the AIM2 and IFI16 can be inhibited by hepatitis B e antigen in chronic Hepatitis B.
Title: Differential Activation of NLRP3, AIM2, and IFI16 Inflammasomes in Humans with Acute and Chronic Hepatitis B.
expression and activation of AIM2, and the increase in circulating mtDNA levels may contribute to the inflammatory process in patients with T2D.
Title: Increased Levels of AIM2 and Circulating Mitochondrial DNA in Type 2 Diabetes.
Caspase-1-dependent IL-1beta processing and secretion require the AIM2 inflammasome pathway in human dental pulp cells and the AIM2 inflammasome pathway is critical for regulation of the dental pulp immune response.
Title: AIM2 Inflammasome Is Critical for dsDNA-Induced IL-1β Secretion in Human Dental Pulp Cells.
rs855867 in AIM2 is not significantly associated with childhood autism spectrum disorder or the severity of the disease in a Chinese Han population.
Title: A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder.
This study found IFI16 and AIM2 SNPs associated with higher levels of periodontal microorganisms and an increased percentage of periodontal disease clinical parameters.
Title: Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease.

Submit: New GeneRIF Correction See all GeneRIFs (71)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Cytosolic DNA-sensing pathway, organism-specific biosystem (from KEGG)
Cytosolic DNA-sensing pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
Cytosolic DNA-sensing pathway, conserved biosystem (from KEGG)
Cytosolic DNA-sensing pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Inflammasomes, organism-specific biosystem (from REACTOME)
Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
The AIM2 inflammasome, organism-specific biosystem (from REACTOME)
The AIM2 inflammasome, organism-specific biosystemAIM2 is a member of the PYHIN or HIN200 family. It has a C-terminal HIN domain which can bind double-stranded DNA (dsDNA) and a PYD domain that can bind ASC via a PYD-PYD interaction. In cells expres...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the AIM2 gene: The AIM2 gene is conserved in chimpanzee, Rhesus monkey, mouse, and rat.
Orthologs from Annotation Pipeline: 57 organisms have orthologs with human gene AIM2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
apoptotic process	IEA Inferred from Electronic Annotation more info
cellular response to drug	IDA Inferred from Direct Assay more info	PubMed
cellular response to interferon-beta	IBA Inferred from Biological aspect of Ancestor more info	PubMed
immune response	TAS Traceable Author Statement more info	PubMed
inflammatory response	IEA Inferred from Electronic Annotation more info
innate immune response	IEA Inferred from Electronic Annotation more info
interleukin-1 beta secretion	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of defense response to virus by host	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interleukin-1 beta secretion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of interleukin-1 beta secretion	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein oligomerization	IDA Inferred from Direct Assay more info	PubMed
pyroptosis	IDA Inferred from Direct Assay more info	PubMed
tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
AIM2 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
AIM2 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: interferon-inducible protein AIM2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348247.1 → NP_001335176.1 interferon-inducible protein AIM2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AL359753

Conserved Domains (1) summary

pfam02760
Location:45 → 212

HIN; HIN-200/IF120x domain
NM_004833.3 → NP_004824.1 interferon-inducible protein AIM2 isoform 1

See identical proteins and their annotated locations for NP_004824.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF024714, BC010940

Consensus CDS

CCDS1181.1

UniProtKB/Swiss-Prot

O14862

Related

ENSP00000357112.4, ENST00000368130.9

Conserved Domains (2) summary

cd08305
Location:10 → 82

Pyrin; Pyrin: a protein-protein interaction domain

pfam02760
Location:150 → 317

HIN; HIN-200/IF120x domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

159059226..159132351 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002848.1 → XP_016858337.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

O14862

Conserved Domains (2) summary

cd08305
Location:10 → 82

Pyrin; Pyrin: a protein-protein interaction domain

pfam02760
Location:150 → 317

HIN; HIN-200/IF120x domain