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

    Gene ID: 9447, updated on 15-Jun-2019

    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

    Genomic context

    See AIM2 in Genome Data Viewer
    Location:
    1q23.1-q23.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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_000001.11Genomic Context describing neighboring genes Neighboring gene pyrin and HIN domain family member 1 Neighboring gene interferon gamma inducible protein 16 Neighboring gene pyrin domain containing 5 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

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • 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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    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

    Preferred Names
    interferon-inducible protein AIM2

    NCBI Reference Sequences (RefSeq)

    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_001348247.1NP_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:45212
      HIN; HIN-200/IF120x domain
    2. NM_004833.3NP_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:1082
      Pyrin; Pyrin: a protein-protein interaction domain
      pfam02760
      Location:150317
      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

    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_017002848.1XP_016858337.1  interferon-inducible protein AIM2 isoform X1

      UniProtKB/Swiss-Prot
      O14862
      Conserved Domains (2) summary
      cd08305
      Location:1082
      Pyrin; Pyrin: a protein-protein interaction domain
      pfam02760
      Location:150317
      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

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