AIM2 (absent in melanoma 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9447
Gene name Absent in melanoma 2
Gene symbol AIM2
Synonyms (NCBI Gene)
PYHIN4
Chromosome 1
Chromosome location 1q23.1-q23.2
Summary 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]
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT023788 hsa-miR-1-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (75)
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IBA
GO:0002218 Process Activation of innate immune response IDA 19158675, 19158676, 19158679
GO:0002218 Process Activation of innate immune response IEA
GO:0002221 Process Pattern recognition receptor signaling pathway NAS 29247998
GO:0002230 Process Positive regulation of defense response to virus by host IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604578 357 ENSG00000163568
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14862
Protein name Interferon-inducible protein AIM2 (Absent in melanoma 2)
Protein function Sensor component of the AIM2 inflammasome, which mediates inflammasome activation in response to the presence of double-stranded DNA (dsDNA) in the cytosol, leading to subsequent pyroptosis (PubMed:17726700, PubMed:19158675, PubMed:19158676, Pub
PDB 3RN2 , 3RN5 , 3VD8 , 4O7Q , 6MB2 , 7K3R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 8 → 79 PAAD/DAPIN/Pyrin domain Domain
PF02760 HIN 150 → 317 HIN-200/IF120x domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in spleen, small intestine, peripheral blood leukocytes, and testis. {ECO:0000269|PubMed:9242382}.
Sequence
Sequence length 343
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway 		  The AIM2 inflammasome
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AIM2-related disorder Benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EATING DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (157)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 28526809
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28342645
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25910707
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 31557327
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 19957108 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 35312143 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 23790454
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic aneurysm Pubtator 23790454 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 24618883 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 24618883, 30758522, 31432101
★★★★★
★☆☆☆☆
Found in Text Mining only