Free for academic non-profit institutions. Other users need a Commercial license
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]
AIM2 (Absent In Melanoma 2) is a Protein Coding gene. Diseases associated with AIM2 include Renal Infectious Disease and Melanoma. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding and double-stranded DNA binding. An important paralog of this gene is IFI16.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003690 | double-stranded DNA binding | IEA,IDA | 19158675 |
GO:0005515 | protein binding | IPI | 19158675 |
GO:0042802 | identical protein binding | IEA,IPI | 19158676 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 19158676 |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
.01
|
|
2 | Innate Immune System |
.61
|
|
3 | NF-kappaB Signaling | ||
4 | Cytosolic sensors of pathogen-associated DNA | ||
5 | NOD-like receptor signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002218 | activation of innate immune response | IEA,IDA | 19158675 |
GO:0002230 | positive regulation of defense response to virus by host | IEA,ISS | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0006954 | inflammatory response | IEA | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AIM2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aim2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aim2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720287 | Benign: not provided | 159,065,931(-) | A/G | SYNONYMOUS_VARIANT | |
775617 | Benign: not provided | 159,073,251(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
780267 | Benign: not provided | 159,062,694(-) | A/C | STOP_LOST | |
780268 | Benign: not provided | 159,065,976(-) | C/A | SYNONYMOUS_VARIANT | |
780269 | Benign: not provided | 159,068,562(-) | T/A | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
renal infectious disease |
|
|
melanoma |
|
|
tularemia |
|
|
cinca syndrome |
|
|
familial cold autoinflammatory syndrome |
|
|