| Gene Symbol |
AIM2
|
| Entrez Gene |
9447
|
| Alt Symbol |
PYHIN4
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
absent in melanoma 2
|
| Other Description |
interferon-inducible protein AIM2
|
| Swissprots |
O14862 Q96FG9 A8K7M7 Q5T3V9
|
| Accessions |
CCQ43285 EAW52795 O14862 AF024714 AAB81613 AK292042 BAF84731 BC010940 AAH10940 U52053 XM_005245616 XP_005245673 XM_005245617 XP_005245674 NM_004833 NP_004824
|
| Function |
Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity. {ECO:0000250, ECO:0000269|PubMed:16432157, ECO:0000269|PubMed:17726700, ECO:0000269|PubMed:19158675, ECO:0000269|PubMed:19158676, ECO:0000269|PubMed:19158679, ECO:0000269|PubMed:20566831}.
|
| Subcellular Location |
Nucleus. Cytoplasm. Note=Activated inflammasomes can aggregate in the cytosol as speck-like particles.
|
| Tissue Specificity |
Expressed in spleen, small intestine, peripheral blood leukocytes, and testis. {ECO:0000269|PubMed:9242382}.
|
| Top Pathways |
Cytosolic DNA-sensing pathway
|