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

Gene ID: 9447, updated on 2-Mar-2021

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
109.20210226 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 promotes the development of non-small cell lung cancer by modulating mitochondrial dynamics. Qi M, et al. Oncogene, 2020 Mar. PMID 32005973
  2. Role of AIM2 inflammasome in inflammatory diseases, cancer and infection. Sharma BR, et al. Eur J Immunol, 2019 Nov. PMID 31372985, Free PMC Article
  3. Absent in melanoma 2 regulates tumor cell proliferation in glioblastoma multiforme. Chen PA, et al. J Neurooncol, 2019 Sep. PMID 31280432
  4. AIM2 promotes non-small-cell lung cancer cell growth through inflammasome-dependent pathway. Zhang M, et al. J Cell Physiol, 2019 Nov. PMID 30953357
  5. AIM2 levels and DNA-triggered inflammasome response are increased in peripheral leukocytes of patients with abdominal aortic aneurysm. Wortmann M, et al. Inflamm Res, 2019 Apr. PMID 30758522

See all (109) 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. AIM2 promotes the development of non-small cell lung cancer by modulating mitochondrial dynamics.
    Title: AIM2 promotes the development of non-small cell lung cancer by modulating mitochondrial dynamics.
  2. CCL19 suppresses gastric cancer cell proliferation, migration, and invasion through the CCL19/CCR7/AIM2 pathway.
    Title: CCL19 suppresses gastric cancer cell proliferation, migration, and invasion through the CCL19/CCR7/AIM2 pathway.
  3. Long non-coding RNA MEG3 promotes cerebral ischemia-reperfusion injury through increasing pyroptosis by targeting miR-485/AIM2 axis.
    Title: Long non-coding RNA MEG3 promotes cerebral ischemia-reperfusion injury through increasing pyroptosis by targeting miR-485/AIM2 axis.
  4. Differential Expression Profile of NLRs and AIM2 in Glioma and Implications for NLRP12 in Glioblastoma.
    Title: Differential Expression Profile of NLRs and AIM2 in Glioma and Implications for NLRP12 in Glioblastoma.
  5. Expression of inflammasomes NLRP1, NLRP3 and AIM2 in different pathologic classification of lupus nephritis.
    Title: Expression of inflammasomes NLRP1, NLRP3 and AIM2 in different pathologic classification of lupus nephritis.
  6. Absent in melanoma 2 suppresses epithelial-mesenchymal transition via Akt and inflammasome pathways in human colorectal cancer cells.
    Title: Absent in melanoma 2 suppresses epithelial-mesenchymal transition via Akt and inflammasome pathways in human colorectal cancer cells.
  7. AIM2 functioned as an oncogene in NSCLC in an inflammasome-dependent way.
    Title: AIM2 promotes non-small-cell lung cancer cell growth through inflammasome-dependent pathway.
  8. Role of AIM2 inflammasome in inflammatory diseases, cancer and infection has been summarized. (Review)
    Title: Role of AIM2 inflammasome in inflammatory diseases, cancer and infection.
  9. AIM2, NLRP1, and P2RX7 promoted susceptibility to Leishmania braziliensis infection.
    Title: Inflammasome gene expression is associated with immunopathology in human localized cutaneous leishmaniasis.
  10. High AIM2 expression is associated with glioblastoma multiforme.
    Title: Absent in melanoma 2 regulates tumor cell proliferation in glioblastoma multiforme.
Submit: New GeneRIF Correction See all GeneRIFs (88)

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

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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
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
  
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 
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)

  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 109.20210226

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

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