AIM2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | AIM2 |
| Official Name | absent in melanoma 2 [Source:HGNC Symbol;Acc:HGNC:357] |
| Ensembl ID | ENSG00000163568 |
| Bio databases IDs | |
| Aliases | absent in melanoma 2 |
| Synonyms | absent in melanoma 2, Gm1313, Ifi210, LOC105371461, PYHIN4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AIM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PAAD/DAPIN/Pyrin domain
- signaling receptor activity
- double-stranded DNA binding
- protein binding activity, bridging
- protein binding
- enzyme regulator activity
- HIN-200/IF120x domain
- protease activator
- identical protein binding
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the AIM2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- proteinuria
- neoplasia
- insulin-dependent diabetes mellitus
- psoriasis
- rheumatoid arthritis
- gastric carcinoma
- gastric epithelial cancer
- gout
- mature T-cell neoplasia
role in cell
- expression in
- activity
- activation in
- migration
- phosphorylation in
- activation
- proliferation
- production in
- cellular infiltration by
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AIM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of NF-kappaB transcription factor activity
- positive regulation of inflammatory response
- positive regulation of defense response to virus by host
- brain development
- response to DNA damage stimulus
- pattern recognition receptor signaling pathway
- positive regulation of NF-kappaB transcription factor activity
- T cell homeostasis
- regulation of behavior
- neuron homeostasis
- inflammatory response
- tumor necrosis factor-mediated signaling pathway
- immune response
- activation of innate immune response
- innate immune response
- pyroptosis
- defense response to virus
- cellular response to xenobiotic stimulus
- positive regulation of cysteine-type endopeptidase activity
- positive regulation of interleukin-1 beta production
- cellular response to interferon-beta
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- site of double-strand break
- cytoplasm
- AIM2 inflammasome complex
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- signaling adaptor activity
- double-stranded DNA binding