• Gene id: 9447

Gene Summary

• Gene Symbol: AIM2   Gene   UCSC   Ensembl
• Aliases: PYHIN4
• Gene name: absent in melanoma 2
• Alternate names: interferon-inducible protein AIM2,
• Gene location: 1q23.1-q23.2 (159132350: 159059225)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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]
• OMIM: 601878

Protein Summary

• Protein general information: O14862  
  • Name: Interferon inducible protein AIM2 (Absent in melanoma 2)
  • Length: 343  
  • Mass: 38954
  • Tissue specificity: Expressed in spleen, small intestine, peripheral blood leukocytes, and testis. {ECO
• Sequence:

  MESKYKEILLLTGLDNITDEELDRFKFFLSDEFNIATGKLHTANRIQVATLMIQNAGAVSAVMKTIRIFQKLNYM
  LLAKRLQEEKEKVDKQYKSVTKPKPLSQAEMSPAASAAIRNDVAKQRAAPKVSPHVKPEQKQMVAQQESIREGFQ
  KRCLPVMVLKAKKPFTFETQEGKQEMFHATVATEKEFFFVKVFNTLLKDKFIPKRIIIIARYYRHSGFLEVNSAS
  RVLDAESDQKVNVPLNIIRKAGETPKINTLQTQPLGTIVNGLFVVQKVTEKKKNILFDLSDNTGKMEVLGVRNED
  TMKCKEGDKVRLTFFTLSKNGEKLQLTSGVHSTIKVIKAKKKT

• Structural information:
  • Protein Domains: (1..8-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (138..33-)
    (/note="HIN-200-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00106"-)
  • Interpro: IPR004020  IPR011029  IPR040205  IPR004021  
  • Prosite: PS50824 PS50834
  • PDB: 3RN2 3RN5 3VD8 4O7Q 6MB2
  • PDBsum: 3RN2 3RN5 3VD8 4O7Q 6MB2
  • DIP: 59741
  • STRING: ENSP00000357112
• Other Databases: GeneCards:  AIM2  Malacards:  AIM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0002218	activation of innate immune response	IBA	biological process
GO:0035458	cellular response to interferon-beta	IBA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IBA	biological process
GO:0097169	AIM2 inflammasome complex	IBA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0044546	NLRP3 inflammasome complex assembly	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IDA	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IDA	biological process
GO:0097169	AIM2 inflammasome complex	IDA	cellular component
GO:0097169	AIM2 inflammasome complex	IDA	cellular component
GO:0070269	pyroptosis	IDA	biological process
GO:0070269	pyroptosis	IDA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IDA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IDA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0002218	activation of innate immune response	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002230	positive regulation of defense response to virus by host	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002218	activation of innate immune response	IEA	biological process
GO:0035458	cellular response to interferon-beta	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006955	immune response	TAS	biological process
GO:0035690	cellular response to drug	IDA	biological process
GO:0050702	interleukin-1 beta secretion	IMP	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IEA	biological process
GO:0097169	AIM2 inflammasome complex	IEA	cellular component
GO:0070269	pyroptosis	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0035458	cellular response to interferon-beta	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002230	positive regulation of defense response to virus by host	IEA	biological process
GO:0002218	activation of innate immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1904270	pyroptosome complex assembly	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway
hsa04623	Cytosolic DNA-sensing pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881