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

    Gene ID: 9447, updated on 4-Jan-2025

    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; 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
    NEW
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    Genomic context

    See AIM2 in Genome Data Viewer
    Location:
    1q23.1; 1q23.1-q23.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159055051..159147132, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158193165..158260630, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1262 screens)

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in AIM2 inflammasome complex assembly PubMed 
    involved_in DNA damage response  
    involved_in T cell homeostasis  
    involved_in activation of innate immune response  
    involved_in activation of innate immune response PubMed 
    involved_in brain development  
    involved_in cellular response to interferon-beta  
    acts_upstream_of_or_within cellular response to xenobiotic stimulus PubMed 
    involved_in defense response to virus PubMed 
    involved_in immune response PubMed 
    involved_in innate immune response  
    involved_in negative regulation of NF-kappaB transcription factor activity PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in neuron cellular homeostasis  
    involved_in pattern recognition receptor signaling pathway PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity PubMed 
    involved_in positive regulation of defense response to virus by host  
    involved_in positive regulation of inflammatory response PubMed 
    involved_in positive regulation of interleukin-1 beta production PubMed 
    involved_in pyroptosome complex assembly PubMed 
    involved_in pyroptotic inflammatory response PubMed 
    involved_in pyroptotic inflammatory response PubMed 
    involved_in regulation of behavior  
    involved_in tumor necrosis factor-mediated signaling pathway PubMed 
    Component Evidence Code Pubs
    part_of AIM2 inflammasome complex  
    part_of AIM2 inflammasome complex PubMed 
    part_of AIM2 inflammasome complex PubMed 
    is_active_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    is_active_in cytosol  
    located_in cytosol  
    located_in cytosol  
    located_in mitochondrion  
    is_active_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in site of double-strand break  

    General protein information

    Preferred Names
    interferon-inducible protein AIM2

    NCBI Reference Sequences (RefSeq)

    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_2024_08

    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

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