AIM2 Gene (Protein Coding)

Absent In Melanoma 2

GC01M159062
GIFtS:
43
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

  • Absent In Melanoma 2 2 3 4 5
  • Interferon-Inducible Protein AIM2 3 4
  • PYHIN4 2 3
  • AIM2 5

External Ids for AIM2 Gene

Previous GeneCards Identifiers for AIM2 Gene

  • GC01M156824
  • GC01M154764
  • GC01M155810
  • GC01M156249
  • GC01M155845
  • GC01M157298
  • GC01M159032
  • GC01M130389

Summaries for AIM2 Gene

Entrez Gene Summary 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 NF-kappaB Signaling. 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.

Gene Wiki entry for AIM2 Gene

Additional gene information for AIM2 Gene

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

Download GeneHancer 2017 data
Promoters and enhancers for AIM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J159075 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 258 +70.5 70479 3.6 BCLAF1 SP1 ZNF207 NCOR1 MYC IKZF1 SIX5 ZNF592 POLR2A YY1 AIM2 HSALNG0007755 lnc-AIM2-2 PYDC5
GH01J159187 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE CraniofacialAtlas 250.3 -41.3 -41278 1.5 EZH2 POLR2A SIN3A BHLHE40 RFX5 TAF1 EGR1 SP1 CREM ATF1 HSALNG0007759 AIM2 HSALNG0007761 ACKR1 CADM3
GH01J159171 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.2 -25.3 -25305 2.8 ZIC2 SIN3A PRDM10 EGR1 SP1 EZH2 ZNF143 POLR2A CADM3 ACKR1 AIM2 CADM3-AS1 ENSG00000212161 OR10J3 OR6N1 OR6K3 FCER1A OR6N2
GH01J159197 Enhancer 0.6 Ensembl 23.6 -51.2 -51205 1 REST TRIM22 CTCF RAD21 SMC3 ZNF143 GATA2 CREM KLF16 XRCC5 AIM2 CADM3 OR10J2P FCER1A ACKR1 HSALNG0007759 CADM3-AS1
GH01J159084 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 8.2 +59.9 59896 12.8 JUND CTCF REST CEBPB TRIM22 EP300 GABPA SMC3 NFE2 SPI1 MNDA AIM2 IFI16 RAD1P2 lnc-IFI16-1 lnc-OR10J3-2 PYDC5
- 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

Latest Assembly
chr1:159,059,226-159,147,096
(GRCh38/hg38)
Size:
87,871 bases
Orientation:
Minus strand

Previous Assembly
chr1:159,032,274-159,046,556
(GRCh37/hg19 by Entrez Gene)
Size:
14,283 bases
Orientation:
Minus strand

chr1:159,032,274-159,116,886
(GRCh37/hg19 by Ensembl)
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:
AIM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AIM2 Gene

Proteins for AIM2 Gene

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  3. Assay products for research

  • Protein details for AIM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14862-AIM2_HUMAN
    Recommended name:
    Interferon-inducible protein AIM2
    Protein Accession:
    O14862
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for AIM2 Gene

neXtProt entry for AIM2 Gene

Protein Expression for AIM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AIM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AIM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein products for research

  • 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

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

O14862

UniProtKB/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.
genes like me logo Genes that share domains with AIM2: view

Function for AIM2 Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for AIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IBA,IDA 19158675
GO:0005515 protein binding IPI 19158675
GO:0042802 identical protein binding IEA,IPI 19158676
genes like me logo Genes that share ontologies with AIM2: view
genes like me logo Genes that share phenotypes with AIM2: view

Animal Models for AIM2 Gene

MGI Knock Outs for AIM2:
  • Aim2 Aim2<tm1.2Arte>
  • Aim2 Aim2<tm1Ktak>
  • Aim2 Aim2<tm1.1Vmd>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIM2 gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AIM2 Gene

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 --
genes like me logo Genes that share ontologies with AIM2: view

Pathways & Interactions for AIM2 Gene

genes like me logo Genes that share pathways with AIM2: view

Gene Ontology (GO) - Biological Process for AIM2 Gene

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 --
genes like me logo Genes that share ontologies with AIM2: view

No data available for SIGNOR curated interactions for AIM2 Gene

Drugs & Compounds for AIM2 Gene

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  1. Drug products for research

(1) Additional Compounds for AIM2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AIM2: view

Transcripts for AIM2 Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIM2

Alternative Splicing Database (ASD) splice patterns (SP) for AIM2 Gene

No ASD Table

Relevant External Links for AIM2 Gene

GeneLoc Exon Structure for
AIM2

Expression for AIM2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AIM2 Gene

mRNA expression in normal human tissues for AIM2 Gene
mRNA expression by GTEx for AIM2 GenemRNA expression by BioGPS for AIM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for AIM2 Gene

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



Protein tissue co-expression partners 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.733411

mRNA 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(4.5)
  • Lymph node(3)
  • Blood(2.7)
  • Intestine(2.6)
  • Liver(2.5)
  • Heart(2.5)
  • Kidney(2.5)
  • Muscle(2.3)
  • Bone marrow(2.3)
  • Skin(2.3)
  • Lung(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with AIM2: view

Primer products for research

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.

Orthologs for AIM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia AIM2 29 30
  • 98.74 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Aim2 29
  • 69.21 (n)
Mouse
(Mus musculus)
 Mammalia Aim2 29 16 30
  • 69.12 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 31 (a)
 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
Alliance of Genome Resources:
Additional Orthologs for AIM2

Paralogs for AIM2 Gene

Paralogs for AIM2 Gene

(2) SIMAP similar genes for AIM2 Gene using alignment to 3 proteins:

  • AIM2_HUMAN
  • L8E7Q5_HUMAN
  • Q5T3W0_HUMAN
genes like me logo Genes that share paralogs with AIM2: view

Variants for AIM2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

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
rs114667580 Benign: not provided 159,068,562(-) T/A
NM_004833.3(AIM2):c.396+6A>T 		INTRON
rs34419602 Benign: not provided 159,065,931(-) A/G
NM_004833.3(AIM2):c.795T>C (p.Asn265=) 		SYNONYMOUS
rs34479821 Benign: not provided 159,073,251(-) C/T
NM_004833.3(AIM2):c.249G>A (p.Glu83=) 		SYNONYMOUS_VARIANT,INTRON
rs34654901 Benign: not provided 159,065,976(-) C/A
NM_004833.3(AIM2):c.750G>T (p.Pro250=) 		SYNONYMOUS
rs74689714 Benign: not provided 159,062,694(-) A/C
NM_004833.3(AIM2):c.1030T>G (p.Ter344Glu) 		STOP_LOST

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AIM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AIM2 Gene

Variant ID Type Subtype PubMed ID
nsv946445 CNV duplication 23825009

Variation tolerance for AIM2 Gene

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

Human Gene Mutation Database (HGMD)
AIM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIM2
Leiden Open Variation Database (LOVD)
AIM2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIM2 Gene

Disorders for AIM2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for AIM2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
renal infectious disease
melanoma
  • malignant melanoma
tularemia
  • deerfly fever
zika virus congenital syndrome
  • zikv congenital infection
cinca syndrome
  • cinca
- elite association - COSMIC cancer census association via MalaCards
Search AIM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AIM2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AIM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AIM2 Gene

Publications for AIM2 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

ExternalLinks

View latest publications for AIM2 gene in Mastermind

Products for AIM2 Gene

  • Addgene plasmids for AIM2

Sources for AIM2 Gene