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
109.20200228	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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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 Functions

What's a GeneRIF?

High AIM2 expression is associated with glioblastoma multiforme.
Title: Absent in melanoma 2 regulates tumor cell proliferation in glioblastoma multiforme.
The aim of the present study is to determine the expression levels of PYHIN (IFI16 and AIM2) and APOBEC3 (A3A, A3B, A3C, A3D, A3F, A3G, and A3H) gene family members in a cohort of patients with head and neck squamous cell carcinoma (HNSCC) and assess their potential correlation with human papillomavirus (HPV) infection status, clinical characteristics, and survival.
Title: PYHIN genes as potential biomarkers for prognosis of human papillomavirus-positive or -negative head and neck squamous cell carcinomas.
these results indicated the therapeutic effect of PEI600-CyD (H1) nanoparticle-mediated AIM2 gene (H1/pAIM2) nanoparticles was mainly attributable to its capability to enhance the inflammasome activation
Title: H1/pAIM2 nanoparticles exert anti-tumour effects that is associated with the inflammasome activation in renal carcinoma.
In in vitro assays using oral squamous cell carcinoma (OSCC) cell lines, the high migration and invasion capacity of OSCC cells were dependent on the increased expression of AIM2, resulting in enhanced epithelial-mesenchymal transition (EMT), with EMT-related gene expression.
Title: Overexpression of absent in melanoma 2 in oral squamous cell carcinoma contributes to tumor progression.
that AIM2 might serve as a novel prognostic indicator as well as a potential therapeutic target for renal carcinoma treatment
Title: AIM2 is a potential therapeutic target in human renal carcinoma and suppresses its invasion and metastasis via enhancing autophagy induction.
In kidneys from patients with diabetic or nondiabetic CKD, immunofluorescence showed AIM2 expression in glomeruli, tubules, and infiltrating leukocytes. In vitro, macrophages that engulfed necrotic debris showed AIM2-dependent activation of caspase-1 and IL-1beta, and the formation of AIM2(+) ASC specks indicating inflammasome activation.
Title: Macrophage Uptake of Necrotic Cell DNA Activates the AIM2 Inflammasome to Regulate a Proinflammatory Phenotype in CKD.
We demonstrated that patients with abdominal aortic aneurysm (AAA) show increased protein levels of the dsDNA sensor AIM2 in peripheral monocytes, granulocytes, T cells, and B cells, compared with controls. Moreover, our data present evidence that PBMC of AAA patients respond to foreign DNA with higher inflammasome activation and IL-1beta release than PBMC from patients without AAA.
Title: AIM2 levels and DNA-triggered inflammasome response are increased in peripheral leukocytes of patients with abdominal aortic aneurysm.
In the hypopharyngeal squamous cell carcinoma (HSCC) samples, low AIM2 expression was closely related to lymph node metastasis and intravascular tumor thrombus and were strongly associated with poor survival. AIM2 expression was negatively correlated with pSTAT3 expression in the HSCC tissue samples, and combined analysis revealed that patients with low AIM2 and high pSTAT3 levels had the worst survival rate.
Title: Low expression of AIM2 combined with high expression of p‑STAT3 is associated with poor prognosis in hypopharyngeal squamous cell carcinoma.
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.

Submit: New GeneRIF Correction See all GeneRIFs (79)

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)

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: 63 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
NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
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
pyroptosis	IDA Inferred from Direct Assay more info	PubMed
pyroptosome complex assembly	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 Updated 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