Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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]

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023788	hsa-miR-1-3p	Microarray	18668037

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
GO:0002230	Process	Positive regulation of defense response to virus by host	ISS
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003690	Function	Double-stranded DNA binding	IDA	19158675, 26197926, 26583071, 29440442, 33980849
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19158675, 19158676, 22286270, 22801494, 24237704, 24531343, 24630722, 30104205
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	8454910
GO:0005737	Component	Cytoplasm	IDA	19158676, 24531343
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	19158676
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	TAS	9242382
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	16432157
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	19158675, 19158676, 19158679, 24630722
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	16432157
GO:0035458	Process	Cellular response to interferon-beta	IBA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0035591	Function	Signaling adaptor activity	IDA	23530044, 26197926, 29440442, 33980849
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035861	Component	Site of double-strand break	IEA
GO:0035861	Component	Site of double-strand break	ISS
GO:0038187	Function	Pattern recognition receptor activity	IDA	26197926
GO:0038187	Function	Pattern recognition receptor activity	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19158676, 24630722
GO:0043029	Process	T cell homeostasis	IEA
GO:0043029	Process	T cell homeostasis	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IDA	32109412, 33883744
GO:0050729	Process	Positive regulation of inflammatory response	NAS	24630722
GO:0050795	Process	Regulation of behavior	IEA
GO:0050795	Process	Regulation of behavior	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	19158675
GO:0051604	Process	Protein maturation	IDA	32109412
GO:0051607	Process	Defense response to virus	NAS	28314590
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0070050	Process	Neuron cellular homeostasis	ISS
GO:0070269	Process	Pyroptotic inflammatory response	IDA	19158675, 19158676
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0070269	Process	Pyroptotic inflammatory response	NAS	19158676
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	19158679
GO:0097169	Component	AIM2 inflammasome complex	IBA
GO:0097169	Component	AIM2 inflammasome complex	IDA	19158676, 19158679, 26197926, 29440442, 33980849
GO:0097169	Component	AIM2 inflammasome complex	IEA
GO:0097169	Component	AIM2 inflammasome complex	IPI	24630722
GO:0140608	Function	Cysteine-type endopeptidase activator activity	IDA	19158679
GO:0140970	Process	AIM2 inflammasome complex assembly	IDA	19158675, 19158679
GO:0140970	Process	AIM2 inflammasome complex assembly	IDA	19158676, 19158679, 23530044, 26197926, 26583071, 29440442, 33980849
GO:0140970	Process	AIM2 inflammasome complex assembly	IEA
GO:0141201	Process	Pyroptotic cell death	IDA	32109412, 33883744
GO:1904270	Process	Pyroptosome complex assembly	IDA	19158676

MIM	HGNC	e!Ensembl
604578	357	ENSG00000163568

Protein

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

MESKYKEILLLTGLDNITDEELDRFKFFLSDEFNIATGKLHTANRIQVATLMIQNAGAVS
AVMKTIRIFQKLNYMLLAKRLQEEKEKVDKQYKSVTKPKPLSQAEMSPAASAAIRNDVAK
QRAAPKVSPHVKPEQKQMVAQQESIREGFQKRCLPVMVLKAKKPFTFETQEGKQEMFHAT
VATEKEFFFVKVFNTLLKDKFIPKRIIIIARYYRHSGFLEVNSASRVLDAESDQKVNVPL
NIIRKAGETPKINTLQTQPLGTIVNGLFVVQKVTEKKKNILFDLSDNTGKMEVLGVRNED
TMKCKEGDKVRLTFFTLSKNGEKLQLTSGVHSTIKVIKAKKKT

Sequence length

343

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway Cytosolic DNA-sensing pathway		The AIM2 inflammasome

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (93)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Azoospermia	Associate	39712014
Carcinoma Large Cell	Associate	38168015
Carcinoma Non Small Cell Lung	Stimulate	25910707
Carotid Artery Diseases	Stimulate	23790454
Carotid Artery Diseases	Associate	38167983
Carotid Stenosis	Associate	38167983
Cerebral Infarction	Stimulate	33678651
Chemical and Drug Induced Liver Injury	Associate	35806450
Colitis Ulcerative	Stimulate	36165492
Colitis Ulcerative	Associate	38203518
Colonic Neoplasms	Associate	37932362
Colorectal Neoplasms	Associate	21804607, 26378020, 35836259, 36248785, 37932362
Colorectal Neoplasms	Inhibit	38186575
Communicable Diseases	Associate	23811549
COVID 19	Associate	33867313
Creutzfeldt Jakob Disease Sporadic	Associate	32918118
Cytokine Release Syndrome	Associate	23811549
Death	Associate	37932362
Diabetes Mellitus Type 2	Associate	29947343, 34092238
Fibrosis	Associate	34220810, 35844548
Glioblastoma	Associate	31320597
Glioma	Associate	17255279, 31186453
Glomerulonephritis	Associate	24701032
Hepatitis B Chronic	Associate	26290184
Hepatitis C	Associate	35806450
Hepatitis Viral Human	Associate	35806450
HIV Infections	Associate	27321752, 31779701
Hyperglycemia	Associate	29947343
Hypoxia	Stimulate	27058421
Idiopathic Pulmonary Fibrosis	Associate	34220810
Infections	Associate	21804607
Inferior Wall Myocardial Infarction	Associate	33678651
Inflammation	Stimulate	23790454
Inflammation	Associate	24244322, 24701032, 26290184, 29947343, 33607116, 33868225, 35312143, 36758286, 36982727
Inflammatory Bowel Diseases	Associate	37740137
Kidney Diseases	Associate	24701032
Liver Diseases	Associate	35806450
Lung Neoplasms	Associate	26506473
Lymphatic Metastasis	Inhibit	33859277
Lymphoma Large B Cell Diffuse	Associate	25267198
Macular Degeneration	Associate	34216617
Melanoma Cutaneous Malignant	Associate	34903008, 37950289
Melioidosis	Associate	32350042
Metabolic Diseases	Associate	35806450
Mitochondrial Diseases	Associate	34216617
Mucocutaneous Lymph Node Syndrome	Stimulate	35154107
Mycobacterium avium intracellulare Infection	Associate	31467293
Myocardial Infarction	Associate	35229543
Nasopharyngeal Carcinoma	Associate	22869553
Neoplasm Metastasis	Associate	38166970
Neoplasms	Associate	21804607, 26070012, 26506473, 27058421, 31186453, 33414262, 34913077, 36248785, 38186575
Neoplasms	Inhibit	22320325, 23864729, 26378020, 33859277
Neoplasms	Stimulate	32391619, 36104978, 38166970
Nerve Degeneration	Associate	28724943
Osteosarcoma	Associate	34913077
Ovarian Neoplasms	Associate	27806724
Pancreatic Neoplasms	Associate	21455317
Periodontal Diseases	Associate	32533779
Periodontitis	Associate	36758286
Pre Eclampsia	Associate	34696702
Prostatic Hyperplasia	Associate	23864729
Prostatic Neoplasms	Inhibit	23864729
Prostatitis	Associate	27058421, 28663562
Psoriasis	Associate	36982727
Pulmonary Disease Chronic Obstructive	Associate	37194062
Pulmonary Fibrosis	Associate	34220810
Pyruvate Carboxylase Deficiency Disease	Associate	35844548
Ring Chromosome 20 Syndrome	Stimulate	38102696
Squamous Cell Carcinoma of Head and Neck	Associate	22320325, 30980272, 34384029, 38166970
Still's Disease Adult Onset	Associate	31068953
Stomach Neoplasms	Inhibit	33859277
Stomatitis Aphthous	Associate	21478439
Stress Disorders Post Traumatic	Associate	35312143
Stroke	Associate	33678651, 38167983
Syphilis	Associate	34781038
Syphilis secondary	Stimulate	34781038
Systemic Inflammatory Response Syndrome	Associate	24701032
Thyroiditis Autoimmune	Associate	29915579
Thyrotropin Biologically Inactive	Associate	30619348
Tuberculosis	Associate	31843671, 32576967, 33868225, 36204643
Tuberculosis Pulmonary	Associate	33868225
Turcot syndrome	Associate	25816162
Virus Diseases	Associate	23811549, 28724943, 33867313, 35806450

AIM2 (absent in melanoma 2)