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 Skin Conditions and Melanoma. Among its related pathways are Innate Immune System and Toll-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and double-stranded DNA binding. An important paralog of this gene is PYHIN1.
UniProtKB/Swiss-Prot 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIM2 Gene
Genomics for AIM2 Gene
GeneHancer (GH) Regulatory Elements for AIM2 Gene
Promoters and enhancers for AIM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AIM2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AIM2 gene promoter:
Regulatory Element Products
Genomic Locations for AIM2 Gene
Genomic Locations for AIM2 Gene
- chr1:159,062,479-159,147,096
- (GRCh38/hg38)
- Size:
- 84,618 bases
- Orientation:
- Minus strand
- chr1:159,032,274-159,116,886
- (GRCh37/hg19)
Genomic View for AIM2 Gene
Genes around AIM2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q23.2 by Ensembl
- 1q23.1-q23.2 by Entrez Gene
- 1q23.1-q23.2 by HGNC
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.
- Miscellaneous:
-
- Defects in AIM2 may be a cause of microsatellite unstable colon cancers.
- SequenceCaution:
-
- Sequence=AAH10940.1; Type=Frameshift; Positions=340; Evidence={ECO:0000305};
Protein Expression for AIM2 Gene
Post-translational modifications for AIM2 Gene
Other Protein References for AIM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody 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:
- ProtoNet:
Suggested Antigen Peptide Sequences for AIM2 Gene
- GenScript: Design optimal peptide antigens:
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
- 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
- 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.
- 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.
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 | IDA,IEA | 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 Model Products
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miRNA for AIM2 Gene
- miRTarBase miRNAs that target AIM2
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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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 |
- 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
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
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002218 | activation of innate immune response | 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
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (34) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AIM2
- Applied Biological Materials Clones for AIM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for AIM2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
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
NURSA nuclear receptor signaling pathways regulating expression of AIM2 Gene:
AIM2SOURCE 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(4.4)
- Nervous system(4.3)
- Blood(2.2)
- Lymph node(2.2)
Primer Products
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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 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aim2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Aim2 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany |
- Species where no ortholog for AIM2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for AIM2 Gene
(2) SIMAP similar genes for AIM2 Gene using alignment to 3 proteins:
Variants for AIM2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000022960 | -- | 159,125,183(-) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000034745 | -- | 159,131,051(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000102774 | -- | 159,121,415(-) | A/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000149550 | -- | 159,099,806(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000175032 | -- | 159,119,058(-) | G/A | genic_upstream_transcript_variant, 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 |
|---|---|---|
| skin conditions |
|
|
| melanoma |
|
|
| tularemia |
|
|
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
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 22 58
- 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 22 58
- 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 58
- Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor. (PMID: 22483801) Jin T … Xiao TS (Immunity 2012) 3 4 58
- Novel role of PKR in inflammasome activation and HMGB1 release. (PMID: 22801494) Lu B … Tracey KJ (Nature 2012) 3 4 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AIM2
- antibodies-online: Search results for 195 available AIM2 Antibodies ranked by validation data
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Sources for AIM2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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- (20) STRING
- (21) IntAct
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- (26) UniGene
- (27) AceView
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- (29) ECgene
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- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (43) HGMD
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- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
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- (55) miRBase
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- (60) TGDB
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- (69) OCA
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- (75) fRNAdb
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- (103) GeneReviews
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- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
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- (158) Applied Biosystems
