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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] See more...
Aliases for AIM2 Gene
Aliases for AIM2 Gene
External Ids for AIM2 Gene
- HGNC: 357
- Entrez Gene: 9447
- Ensembl: ENSG00000163568
- OMIM: 604578
- UniProtKB: O14862
Previous GeneCards Identifiers for AIM2 Gene
- GC01M156824
- GC01M154764
- GC01M155810
- GC01M156249
- GC01M155845
- GC01M157298
- GC01M159032
- GC01M130389
Summaries for AIM2 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]
GeneCards Summary for AIM2 Gene
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.
UniProtKB/Swiss-Prot Summary for AIM2 Gene
-
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.
Additional gene information for AIM2 Gene
- HGNC(357)
- Entrez Gene(9447)
- Ensembl(ENSG00000163568)
- OMIM(604578)
- UniProtKB(O14862)
- Open Targets Platform(ENSG00000163568)
- Search for AIM2 at DataMed
- Search for AIM2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIM2 Gene
Genomics for AIM2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AIM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AIM2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AIM2
- Top Transcription factor binding sites by QIAGEN in the AIM2 gene promoter:
-
- Evi-1
- FOXJ2
- FOXJ2 (long isoform)
- FOXO4
- GATA-1
- GATA-2
- GATA-3
- POU6F1 (c2)
- RSRFC4
- S8
Genomic Locations for AIM2 Gene
Genomic Locations for AIM2 Gene
- chr1:159,059,226-159,147,096
- (GRCh38/hg38)
- Size:
- 87,871 bases
- Orientation:
- Minus strand
- chr1:159,032,274-159,116,886
- (GRCh37/hg19)
- Size:
- 84,613 bases
- Orientation:
- Minus strand
Genomic View for AIM2 Gene
Genes around AIM2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q23.1-q23.2 by HGNC
- 1q23.1-q23.2 by Entrez Gene
- 1q23.2 by Ensembl
AIM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AIM2 Gene
Proteins for AIM2 Gene
-
Protein details for AIM2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14862-AIM2_HUMAN
- Recommended name:
- Interferon-inducible protein AIM2
- Protein Accession:
- O14862
- A8K7M7
- Q5T3V9
- Q96FG9
Protein attributes for AIM2 Gene
- Size:
- 343 amino acids
- Molecular mass:
- 38954 Da
- Quaternary structure:
-
- Self-associates; forms homooligomers in response to cytosolic dsDNA and the dsDNA seems to serve as oligomerization platform. Component of the AIM2 inflammasome. Interacts with PYCARD, IFI16, EIF2AK2/PKR and MAPRE1. Interacts with PYDC5; disrupts assembly of the ALR inflammasome complex (PubMed:24531343).
- SequenceCaution:
-
- Sequence=AAH10940.1; Type=Frameshift; Evidence={ECO:0000305};
- Miscellaneous:
-
- Defects in AIM2 may be a cause of microsatellite unstable colon cancers.
Protein Expression for AIM2 Gene
Post-translational modifications for AIM2 Gene
Other Protein References for AIM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ AIM2 Antibody
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-
Custom Antibody ServicesOriGene Antibodies for AIM2
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-
Abcam antibodies for AIM2
- Invitrogen Antibodies for AIM2 (AFLGC-AIM2)
- antibodies-online: Show 41 available AIM2 Antibodies ranked by validation data
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- 2 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 8 WB Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for AIM2
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Protein Products
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-
Abcam proteins for AIM2
No data available for DME Specific Peptides for AIM2 Gene
Domains & Families for AIM2 Gene
Gene Families for AIM2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for AIM2 Gene
- InterPro:
- Blocks:
-
- Pyrin domain
- HIN-200/IF120x domain
- ProtoNet:
Suggested Antigen Peptide Sequences for AIM2 Gene
- GenScript: Design optimal peptide antigens:
-
- Absent in melanoma 2 (AIM2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O14862UniProtKB/Swiss-Prot:
AIM2_HUMAN :- The pyrin domain mediates homotypic interaction with PYCARD (PubMed:19158676, PubMed:19158675).
- Belongs to the HIN-200 family.
- Domain:
-
- The pyrin domain mediates homotypic interaction with PYCARD (PubMed:19158676, PubMed:19158675).
- The HIN-20 domain mediates dsDNA binding via electrostatic interactions.
- Family:
-
- Belongs to the HIN-200 family.
Function for AIM2 Gene
Molecular function for AIM2 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot Induction:
- By IFNG/IFN-gamma and IFNB1/IFN-beta.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- In absence of dsDNA pyrin and HIN-20 domain can interact inducing a closed conformation; an autoinhibitory mechanism is proposed in which binding to dsDNA liberates the pyrin domain for homotypic downstream signaling interactions with PYCARD.
- GENATLAS Biochemistry:
- interferon gamma inducible gene,homolog to the tightly linked genes IFI16,MNDA,expressed in spleen,small intestine,peripheral blood leukocytes,39.5kDa,absent in melanoma 2
Phenotypes From GWAS Catalog for AIM2 Gene
| 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 |
Phenotypes for AIM2 Gene
- MGI mutant phenotypes for AIM2:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for AIM2:
Animal Models for AIM2 Gene
Animal Model Products
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CRISPR Products
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miRNA for AIM2 Gene
- miRTarBase miRNAs that target AIM2
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for AIM2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AIM2 Gene
Localization for AIM2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AIM2 Gene
- Nucleus. Cytoplasm. Note=Activated inflammasomes can aggregate in the cytosol as speck-like particles.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
| endosome | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Mitochondria (3)
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for AIM2 Gene
| 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 | ||
Pathways by source for AIM2 Gene
1 BioSystems pathway for AIM2 Gene
2 KEGG pathways for AIM2 Gene
1 Cell Signaling Technology pathway for AIM2 Gene
Interacting Proteins for AIM2 Gene
Selected Interacting proteins:
O14862-AIM2_HUMAN
ENSP00000357112
for AIM2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for AIM2
| 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 | -- |
No data available for SIGNOR curated interactions for AIM2 Gene
Transcripts for AIM2 Gene
mRNA/cDNA for AIM2 Gene
- 2 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000368130 1394 nts (view in UCSC)
- ENST00000481829 508 nts (view in UCSC)
- ENST00000368129 594 nts (view in UCSC)
- ENST00000411768 832 nts (view in UCSC)
CRISPR Products
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for AIM2
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Relevant External Links for AIM2 Gene
- GeneLoc Exon Structure for
- AIM2
Expression for AIM2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Inner Cell Mass (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for AIM2 Gene
This gene is overexpressed in Whole Blood (x13.5), Spleen (x8.3), Small Intestine - Terminal Ileum (x5.2), and Pituitary (x4.9).
This gene is overexpressed in Blymphocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AIM2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AIM2
SOURCE GeneReport for Unigene cluster for AIM2 Gene:
Hs.733411mRNA Expression by UniProt/SwissProt for AIM2 Gene:
O14862-AIM2_HUMAN
Tissue specificity:
Expressed in spleen, small intestine, peripheral blood leukocytes, and testis.
Evidence on tissue expression from TISSUES for AIM2 Gene
- Spleen(4.6)
- Nervous system(4.6)
- Lymph node(3.2)
- Blood(3)
- Skin(2.9)
- Intestine(2.8)
- Heart(2.8)
- Liver(2.7)
- Kidney(2.7)
- Muscle(2.6)
- Bone marrow(2.5)
- Lung(2.2)
- Pancreas(2.2)
- Stomach(2.1)
Primer Products
-
OriGene qPCR primer pairs for AIM2
-
OriGene qPCR primer pairs and template standards for AIM2
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AIM2 Gene
Orthologs for AIM2 Gene
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 |
- Species where no ortholog for AIM2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Cow (Bos Taurus)
- Dog (Canis familiaris)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for AIM2 Gene
- ENSEMBL:
- Gene Tree for AIM2 (if available)
- TreeFam:
- Gene Tree for AIM2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AIM2: view image
Paralogs for AIM2 Gene
Variants for AIM2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AIM2 Gene
| 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 |
Residual Variation Intolerance Score:
38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.15;
51.58% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AIM2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIM2 Gene
Disorders for AIM2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| renal infectious disease |
|
|
| melanoma |
|
|
| tularemia |
|
|
| cinca syndrome |
|
|
| familial cold autoinflammatory syndrome |
|
|
Search AIM2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AIM2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for AIM2 Gene
Publications for AIM2 Gene
- Cloning a novel member of the human interferon-inducible gene family associated with control of tumorigenicity in a model of human melanoma. (PMID: 9242382) DeYoung KL … Trent JM (Oncogene 1997) 2 3 4 23
- Biochemical and growth regulatory activities of the HIN-200 family member and putative tumor suppressor protein, AIM2. (PMID: 15582594) Cresswell KS … Johnstone RW (Biochemical and biophysical research communications 2005) 3 4 23
- The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. (PMID: 25665578) Diner BA … Cristea IM (Molecular systems biology 2015) 2 3
- The PYRIN domain-only protein POP3 inhibits ALR inflammasomes and regulates responses to infection with DNA viruses. (PMID: 24531343) Khare S … Stehlik C (Nature immunology 2014) 3 4
- Novel role of PKR in inflammasome activation and HMGB1 release. (PMID: 22801494) Lu B … Tracey KJ (Nature 2012) 3 4
ExternalLinks
Products for AIM2 Gene
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- Recommended
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- 1 IF Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 8 WB Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- antibodies-online: Show 21 available AIM2 Elisa Kits ranked by validation data
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- antibodies-online: Show 6 available AIM2 Proteins ranked by validation data
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Sources for AIM2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
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