AIM2 absent in melanoma 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AIM2provided by HGNC
Official Full Name: absent in melanoma 2provided by HGNC
Primary source: HGNC:HGNC:357
See related: Ensembl:ENSG00000163568 MIM:604578; AllianceGenome:HGNC:357
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PYHIN4
Summary: 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]
Expression: Biased expression in lymph node (RPKM 9.4), appendix (RPKM 5.0) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1; 1q23.1-q23.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (159055051..159147132, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (158193165..158260630, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (159032274..159046556, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cytosolic DNA sensor AIM2 promotes KRAS-driven lung cancer independent of inflammasomes.
Title: Cytosolic DNA sensor AIM2 promotes KRAS-driven lung cancer independent of inflammasomes.
Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1.
Title: Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1.
Herpes Simplex Virus ICP27 Protein Inhibits AIM 2-Dependent Inflammasome Influencing Pro-Inflammatory Cytokines Release in Human Pigment Epithelial Cells (hTert-RPE 1).
Title: Herpes Simplex Virus ICP27 Protein Inhibits AIM 2-Dependent Inflammasome Influencing Pro-Inflammatory Cytokines Release in Human Pigment Epithelial Cells (hTert-RPE 1).
AIM2 inflammasome regulated by the IFN-gamma/JAK2/STAT1 pathway promotes activation and pyroptosis of monocytes in Coronary Artery Disease.
Title: AIM2 inflammasome regulated by the IFN-γ/JAK2/STAT1 pathway promotes activation and pyroptosis of monocytes in Coronary Artery Disease.
AIM2 participates in house dust mite (HDM)-induced epithelial dysfunctions and ovalbumin (OVA)-induced allergic asthma in infant mice.
Title: AIM2 participates in house dust mite (HDM)-induced epithelial dysfunctions and ovalbumin (OVA)-induced allergic asthma in infant mice.
Association of salivary levels of DNA sensing inflammasomes AIM2, IFI16, and cytokine IL18 with periodontitis and diabetes.
Title: Association of salivary levels of DNA sensing inflammasomes AIM2, IFI16, and cytokine IL18 with periodontitis and diabetes.
Cutting Edge: Cytosolic Receptor AIM2 Is Induced by Peroxisome Proliferator-activated Receptor gamma following Mycobacterium tuberculosis Infection of Human Macrophages but Does Not Contribute to IL-1beta Release.
Title: Cutting Edge: Cytosolic Receptor AIM2 Is Induced by Peroxisome Proliferator-activated Receptor γ following Mycobacterium tuberculosis Infection of Human Macrophages but Does Not Contribute to IL-1β Release.
Activation of AIM2 by hepatitis B virus results in antiviral immunity that suppresses hepatitis C virus during coinfection.
Title: Activation of AIM2 by hepatitis B virus results in antiviral immunity that suppresses hepatitis C virus during coinfection.
AIM2 inflammasome: A potential therapeutic target in ischemic stroke.
Title: AIM2 inflammasome: A potential therapeutic target in ischemic stroke.
AIM2 promotes irradiation resistance, migration ability and PD-L1 expression through STAT1/NF-kappaB activation in oral squamous cell carcinoma.
Title: AIM2 promotes irradiation resistance, migration ability and PD-L1 expression through STAT1/NF-κB activation in oral squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (155)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in AIM2 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interferon-beta	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron cellular homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptosome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of AIM2 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AIM2 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of AIM2 inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: interferon-inducible protein AIM2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348247.2 → NP_001335176.1 interferon-inducible protein AIM2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AL359753

UniProtKB/TrEMBL

A0A8Q3WLZ2

Related

ENSP00000512038.1, ENST00000695579.1

Conserved Domains (1) summary

pfam02760
Location:45 → 212

HIN; HIN-200/IF120x domain
NM_004833.3 → NP_004824.1 interferon-inducible protein AIM2 isoform 1

See identical proteins and their annotated locations for NP_004824.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF024714, BC010940

Consensus CDS

CCDS1181.1

UniProtKB/Swiss-Prot

A8K7M7, O14862, Q5T3V9, Q96FG9

Related

ENSP00000357112.4, ENST00000368130.9

Conserved Domains (2) summary

cd08305
Location:10 → 82

Pyrin; Pyrin: a protein-protein interaction domain

pfam02760
Location:150 → 317

HIN; HIN-200/IF120x domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

159055051..159147132 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434809.1 → XP_047290765.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

A8K7M7, O14862, Q5T3V9, Q96FG9
XM_047434808.1 → XP_047290764.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

A8K7M7, O14862, Q5T3V9, Q96FG9

Related

ENSP00000512039.1, ENST00000411768.2
XM_047434811.1 → XP_047290767.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

A8K7M7, O14862, Q5T3V9, Q96FG9

RNA

XR_007064924.1 RNA Sequence
XR_001737547.3 RNA Sequence
XR_001737544.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

158193165..158260630 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339684.1 → XP_054195659.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

A8K7M7, O14862, Q5T3V9, Q96FG9
XM_054339685.1 → XP_054195660.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

A8K7M7, O14862, Q5T3V9, Q96FG9