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

Gene ID: 9447, updated on 10-Mar-2024

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; AllianceGenome:HGNC:357
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; 1q23.1-q23.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159055051..159147132, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158193165..158260630, complement)
105.20220307 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:158975177-158975702 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:158975703-158976226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1901 Neighboring gene uncharacterized LOC124904432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1452 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:158984807-158986006 Neighboring gene interferon gamma inducible protein 16 Neighboring gene pyrin domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1903 Neighboring gene RAD1 pseudogene 2 Neighboring gene tRNA-Arg (anticodon TCT) 4-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159140542-159141042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1453 Neighboring gene RNA, 5S ribosomal pseudogene 60 Neighboring gene cell adhesion molecule 3 Neighboring gene CADM3 antisense RNA 1

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. The role of AIM2 in human hepatocellular carcinoma and its clinical significance. Zheng P, et al. Pathol Res Pract, 2023 May. PMID 37060822
  2. AIM2 promotes renal cell carcinoma progression and sunitinib resistance through FOXO3a-ACSL4 axis-regulated ferroptosis. Wang Q, et al. Int J Biol Sci, 2023. PMID 36923928, Free PMC Article
  3. AIM2 and Psoriasis. Zhang Y, et al. Front Immunol, 2023. PMID 36742336, Free PMC Article
  4. AIM2 sensors mediate immunity to Plasmodium infection in hepatocytes. Marques-da-Silva C, et al. Proc Natl Acad Sci U S A, 2023 Jan 10. PMID 36595704, Free PMC Article
  5. Pan-cancer analysis of AIM2 inflammasomes with potential implications for immunotherapy in human cancer: A bulk omics research and single cell sequencing validation. Qin Y, et al. Front Immunol, 2022. PMID 36248785, Free PMC Article

See all (170) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of salivary levels of DNA sensing inflammasomes AIM2, IFI16, and cytokine IL18 with periodontitis and diabetes.
    Title: Association of salivary levels of DNA sensing inflammasomes AIM2, IFI16, and cytokine IL18 with periodontitis and diabetes.
  2. Cutting Edge: Cytosolic Receptor AIM2 Is Induced by Peroxisome Proliferator-activated Receptor gamma following Mycobacterium tuberculosis Infection of Human Macrophages but Does Not Contribute to IL-1beta Release.
    Title: Cutting Edge: Cytosolic Receptor AIM2 Is Induced by Peroxisome Proliferator-activated Receptor γ following Mycobacterium tuberculosis Infection of Human Macrophages but Does Not Contribute to IL-1β Release.
  3. Activation of AIM2 by hepatitis B virus results in antiviral immunity that suppresses hepatitis C virus during coinfection.
    Title: Activation of AIM2 by hepatitis B virus results in antiviral immunity that suppresses hepatitis C virus during coinfection.
  4. AIM2 inflammasome: A potential therapeutic target in ischemic stroke.
    Title: AIM2 inflammasome: A potential therapeutic target in ischemic stroke.
  5. AIM2 promotes irradiation resistance, migration ability and PD-L1 expression through STAT1/NF-kappaB activation in oral squamous cell carcinoma.
    Title: AIM2 promotes irradiation resistance, migration ability and PD-L1 expression through STAT1/NF-κB activation in oral squamous cell carcinoma.
  6. Absent in melanoma 2 attenuates proliferation and migration and promotes apoptosis of human colorectal cancer cells by activating P38MAPK signaling pathway.
    Title: Absent in melanoma 2 attenuates proliferation and migration and promotes apoptosis of human colorectal cancer cells by activating P38MAPK signaling pathway.
  7. TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2.
    Title: TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2.
  8. Effects of AIM2 and IFI16 on Infectious Diseases and Inflammation.
    Title: Effects of AIM2 and IFI16 on Infectious Diseases and Inflammation.
  9. The role of AIM2 in human hepatocellular carcinoma and its clinical significance.
    Title: The role of AIM2 in human hepatocellular carcinoma and its clinical significance.
  10. The cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome.
    Title: The cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome.
Submit: New GeneRIF Correction See all GeneRIFs (150)

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 cysteine-type endopeptidase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 pattern recognition receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in AIM2 inflammasome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA damage response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in T cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in activation of innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in activation of innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to interferon-beta IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cellular response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to virus NAS
Non-traceable Author Statement
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 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in pattern recognition receptor signaling pathway NAS
Non-traceable Author Statement
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 inflammatory response NAS
Non-traceable Author Statement
more info
 PubMed 
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 pyroptosis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in pyroptosome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
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
  
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 
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in site of double-strand break ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
interferon-inducible protein AIM2

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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
    UniProtKB/TrEMBL
    A0A8Q3WLZ2
    Related
    ENSP00000512038.1, ENST00000695579.1
    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
    A8K7M7, O14862, Q5T3V9, Q96FG9
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    159055051..159147132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434809.1 → XP_047290765.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    A8K7M7, O14862, Q5T3V9, Q96FG9

  2. XM_047434808.1 → XP_047290764.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    A8K7M7, O14862, Q5T3V9, Q96FG9
    Related
    ENSP00000512039.1, ENST00000411768.2

  3. XM_047434811.1 → XP_047290767.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    A8K7M7, O14862, Q5T3V9, Q96FG9

RNA

  1. XR_007064924.1 RNA Sequence

  2. XR_001737547.3 RNA Sequence

  3. XR_001737544.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    158193165..158260630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339684.1 → XP_054195659.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    A8K7M7, O14862, Q5T3V9, Q96FG9

  2. XM_054339685.1 → XP_054195660.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    A8K7M7, O14862, Q5T3V9, Q96FG9

RNA

  1. XR_008486215.1 RNA Sequence

  2. XR_008486216.1 RNA Sequence

  3. XR_008486214.1 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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