AIM2: Absent In Melanoma 2 - Key Inflammasome Sensor and Cancer Biomarker
Comprehensive gene card for AIM2, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | AIM2 |
|---|---|
| Full Name | Absent In Melanoma 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 9447 ncbi.nlm.nih.gov/gene/9447 |
| Ensembl ID | ENSG00000163563 |
| UniProt ID | O14862 |
| OMIM ID | 604578 |
| HGNC ID | 357 |
| Aliases | PYHIN4, interferon-inducible protein AIM2 |
Description
AIM2 (Absent In Melanoma 2) is a protein-coding gene that encodes a member of the PYHIN (pyrin and HIN domain) protein family. It functions as a cytosolic DNA sensor that recognizes double-stranded DNA from pathogens or damaged host cells, leading to the assembly of the AIM2 inflammasome. This inflammasome activates caspase-1, promoting the maturation of pro-inflammatory cytokines IL-1β and IL-18, and inducing pyroptosis. AIM2 is involved in innate immunity, cancer surveillance, and autoimmune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic Lupus Erythematosus (SLE) | AIM2 inflammasome activation drives type I interferon production and autoinflammation | OMIM 604578; PMID: 25605292 |
| Colorectal Cancer | Loss of AIM2 expression promotes tumorigenesis via impaired inflammasome signaling and increased Wnt/β-catenin activity | PMID: 25605292; PMID: 26083766 |
| Psoriasis | AIM2 inflammasome activation in keratinocytes contributes to IL-1β-mediated skin inflammation | PMID: 28117416 |
| Melanoma | Reduced AIM2 expression correlates with tumor progression and poor prognosis | OMIM 604578; PMID: 10655551 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Low |
| Small Intestine | 6.7 | Low |
| Bone Marrow | 15.2 | Medium |
| Lymph Node | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 18.4 | High expression; used in inflammasome studies |
| HeLa (cervical) | 2.1 | Low expression |
| A549 (lung) | 4.5 | Low expression |
| K562 (leukemia) | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss-of-function |
| c.634C>T (p.Arg212*) | nonsense | <0.01% | Premature stop; loss-of-function |
| c.1072G>A (p.Glu358Lys) | missense | 0.02% | Unknown effect; rare in population |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg212*) lead to truncated protein, impairing DNA sensing and inflammasome assembly.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in AIM2.
Dominant Negative (DN)
No dominant-negative mutations described; AIM2 functions as a homooligomer.
View complete mutation data：
Gene Ontology (GO)
| • GO:0002218 | • GO:0005634 |
| • GO:0005737 | • GO:0005829 |
| • GO:0006915 | • GO:0016236 |
| • GO:0032729 | • GO:0045087 |
| • GO:0061700 |
Pathways
• AIM2 inflammasome pathway (Reactome R-HSA-844456)
• Cytosolic DNA-sensing pathway (KEGG hsa04623)
• Interleukin-1 family signaling (Reactome R-HSA-446652)
Protein Summary
The AIM2 protein (UniProt O14862) is 344 amino acids long and contains an N-terminal pyrin domain (PYD) and a C-terminal HIN-200 domain. The HIN domain binds double-stranded DNA, while the PYD domain recruits the adaptor ASC to form the inflammasome complex. This leads to caspase-1 activation, cytokine processing, and pyroptotic cell death. AIM2 is predominantly cytoplasmic and expressed in immune cells and epithelial tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIM2 Knockout HEK293 Cell Line | EDJ-KQ1059 | Human | 9447 | Details Get a Quote |
| FAIM2 Knockout HEK293 Cell Line | EDJ-KQ7776 | Human | 23017 | Details Get a Quote |
| AIM2 Knockout HeLa Cell Line | EDJ-KQ55167 | Human | 9447 | Details Get a Quote |
| FAIM2 Knockout HeLa Cell Line | EDJ-KQ55674 | Human | 23017 | Details Get a Quote |
| AIM2 Knockout A-549 Cell Line | EDJ-KQ63647 | Human | 9447 | Details Get a Quote |
| FAIM2 Knockout A-549 Cell Line | EDJ-KQ64172 | Human | 23017 | Details Get a Quote |
| AIM2 Knockout HCT 116 Cell Line | EDJ-KQ72107 | Human | 9447 | Details Get a Quote |
| FAIM2 Knockout HCT 116 Cell Line | EDJ-KQ72615 | Human | 23017 | Details Get a Quote |
| Aim2 Knockout IBMDM Cell Line | EDC08142 | Mouse | 383619 | Details Get a Quote |
Displaying Records 1 To 9 Of 9 Records
