AIM2 (absent in melanoma 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9447
Gene name Gene Name - the full gene name approved by the HGNC.
Absent in melanoma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AIM2
Synonyms (NCBI Gene) Gene synonyms aliases
PYHIN4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.1-q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IBA 21873635
GO:0002218 Process Activation of innate immune response IDA 19158675, 19158676, 19158679
GO:0002230 Process Positive regulation of defense response to virus by host ISS
GO:0003690 Function Double-stranded DNA binding IBA 21873635
GO:0003690 Function Double-stranded DNA binding IDA 19158675
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604578 357 ENSG00000163568
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 25854761
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma GWAS
Show/Hide Text Mining Associations (93)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35866781, 36104978
Anodontia Associate 19957108
Anxiety Associate 35312143
Aortic Aneurysm Associate 23790454
Aortic Aneurysm Abdominal Associate 24618883
Aortic Aneurysm Familial Abdominal 1 Associate 31432101
Arthritis Psoriatic Associate 22509827, 28790368
Arthritis Rheumatoid Associate 33162829, 37008939
Ataxia Telangiectasia Associate 21471287
Atherosclerosis Associate 23790454