AIM2 (absent in melanoma 2)

2012-12-01  

Identity

HGNC
LOCATION
1q23.1
LOCUSID
ALIAS
PYHIN4
FUSION GENES

Other Information

Locus ID:

NCBI: 9447
MIM: 604578
HGNC: 357
Ensembl: ENSG00000163568

Variants:

dbSNP: 9447
ClinVar: 9447
TCGA: ENSG00000163568
COSMIC: AIM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163568ENST00000368129Q5T3W0
ENSG00000163568ENST00000368130O14862

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Cytosolic DNA-sensing pathwayKEGGko04623
Cytosolic DNA-sensing pathwayKEGGhsa04623
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
InflammasomesREACTOMER-HSA-622312
The AIM2 inflammasomeREACTOMER-HSA-844615

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191586752009AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC.792
191586762009AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA.639
224838012012Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor.173
218838032011Elevated AIM2-mediated pyroptosis triggered by hypercytotoxic Francisella mutant strains is attributed to increased intracellular bacteriolysis.63
235300442013Structure of the absent in melanoma 2 (AIM2) pyrin domain provides insights into the mechanisms of AIM2 autoinhibition and inflammasome assembly.58
234791812013AIM2 facilitates the apoptotic DNA-induced systemic lupus erythematosus via arbitrating macrophage functional maturation.40
238647292013AIM2, an IFN-inducible cytosolic DNA sensor, in the development of benign prostate hyperplasia and prostate cancer.32
164321572006AIM2 suppresses human breast cancer cell proliferation in vitro and mammary tumor growth in a mouse model.30
197954192010Restoration of absent in melanoma 2 (AIM2) induces G2/M cell cycle arrest and promotes invasion of colorectal cancer cells.30
177267002007The putative tumor suppressor AIM2 is frequently affected by different genetic alterations in microsatellite unstable colon cancers.29

Citation

Dessen P

AIM2 (absent in melanoma 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53092/aim2