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

Gene ID: 9447, updated on 5-Jan-2022

Summary

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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
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Genomic context

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See AIM2 in Genome Data Viewer
Location:
1q23.1-q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (159059226..159132351, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159032274..159046556, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pyrin domain containing 5 Neighboring gene interferon gamma inducible protein 16 Neighboring gene uncharacterized LOC105371461 Neighboring gene RAD1 pseudogene 2 Neighboring gene tRNA-Arg (anticodon TCT) 4-1 Neighboring gene RNA, 5S ribosomal pseudogene 60 Neighboring gene cell adhesion molecule 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. AIM2 Suppresses Inflammation and Epithelial Cell Proliferation during Glomerulonephritis. Chung H, et al. J Immunol, 2021 Dec 1. PMID 34740957
  2. Antimycin A-induced mitochondrial dysfunction regulates inflammasome signaling in human retinal pigment epithelial cells. Korhonen E, et al. Exp Eye Res, 2021 Aug. PMID 34216617
  3. Single-Nucleotide Variants in the AIM2 - Absent in Melanoma 2 Gene (rs1103577) Associated With Protection for Tuberculosis. Figueira MBA, et al. Front Immunol, 2021. PMID 33868225, Free PMC Article
  4. Absent in melanoma 2 suppresses gastric cancer cell proliferation and migration via inactivation of AKT signaling pathway. Wang D, et al. Sci Rep, 2021 Apr 15. PMID 33859277, Free PMC Article
  5. AIM2 inhibits colorectal cancer cell proliferation and migration through suppression of Gli1. Xu M, et al. Aging (Albany NY), 2020 Dec 3. PMID 33291082, Free PMC Article

See all (136) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Up-regulation of AIM2 and TLR4 and down-regulation of NLRC4 are associated with septicemia.
    Title: Up-regulation of AIM2 and TLR4 and down-regulation of NLRC4 are associated with septicemia.
  2. The regulation of long non-coding RNA 00958 (LINC00958) for oral squamous cell carcinoma (OSCC) cells death through absent in melanoma 2 (AIM2) depending on microRNA-4306 and Sirtuin1 (SIRT1) in vitro.
    Title: The regulation of long non-coding RNA 00958 (LINC00958) for oral squamous cell carcinoma (OSCC) cells death through absent in melanoma 2 (AIM2) depending on microRNA-4306 and Sirtuin1 (SIRT1) in vitro.
  3. AIM2 Suppresses Inflammation and Epithelial Cell Proliferation during Glomerulonephritis.
    Title: AIM2 Suppresses Inflammation and Epithelial Cell Proliferation during Glomerulonephritis.
  4. Antimycin A-induced mitochondrial dysfunction regulates inflammasome signaling in human retinal pigment epithelial cells.
    Title: Antimycin A-induced mitochondrial dysfunction regulates inflammasome signaling in human retinal pigment epithelial cells.
  5. Absent in melanoma 2 suppresses gastric cancer cell proliferation and migration via inactivation of AKT signaling pathway.
    Title: Absent in melanoma 2 suppresses gastric cancer cell proliferation and migration via inactivation of AKT signaling pathway.
  6. AIM2 regulates anti-tumor immunity and is a viable therapeutic target for melanoma.
    Title: AIM2 regulates anti-tumor immunity and is a viable therapeutic target for melanoma.
  7. Inflammation drives alternative first exon usage to regulate immune genes including a novel iron-regulated isoform of Aim2.
    Title: Inflammation drives alternative first exon usage to regulate immune genes including a novel iron-regulated isoform of <i>Aim2</i>.
  8. Enhanced IL-1beta Release Following NLRP3 and AIM2 Inflammasome Stimulation Is Linked to mtROS in Airway Macrophages in Pulmonary Fibrosis.
    Title: Enhanced IL-1β Release Following NLRP3 and AIM2 Inflammasome Stimulation Is Linked to mtROS in Airway Macrophages in Pulmonary Fibrosis.
  9. Expression of AIM2 in Rheumatoid Arthritis and Its Role on Fibroblast-Like Synoviocytes.
    Title: Expression of AIM2 in Rheumatoid Arthritis and Its Role on Fibroblast-Like Synoviocytes.
  10. AIM2 forms a complex with pyrin and ZBP1 to drive PANoptosis and host defence.
    Title: AIM2 forms a complex with pyrin and ZBP1 to drive PANoptosis and host defence.
Submit: New GeneRIF Correction See all GeneRIFs (115)

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in NLRP3 inflammasome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in activation of innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in activation of innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to interferon-beta IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within cellular response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of defense response to virus by host ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyroptosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyroptosome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of AIM2 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of AIM2 inflammasome complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of AIM2 inflammasome complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in 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)

  1. NM_001348247.2 → 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

  2. 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 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    159059226..159132351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

RNA

  1. XR_001737545.1 RNA Sequence

  2. XR_001737546.1 RNA Sequence

  3. XR_001737547.2 RNA Sequence

  4. XR_001737544.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14862.1 GenPept UniProtKB/Swiss-Prot:O14862

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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