Aim2 absent in melanoma 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aim2provided by MGI
Official Full Name: absent in melanoma 2provided by MGI
Primary source: MGI:MGI:2686159
See related: Ensembl:ENSMUSG00000037860 AllianceGenome:MGI:2686159
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm1313; Ifi210
Summary: Enables double-stranded DNA binding activity and identical protein binding activity. Involved in positive regulation of macromolecule metabolic process; pyroptosis; and regulation of defense response. Acts upstream of or within cellular response to interferon-beta. Located in cytoplasm. Part of AIM2 inflammasome complex. Orthologous to human AIM2 (absent in melanoma 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in spleen adult (RPKM 1.0), CNS E11.5 (RPKM 0.8) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 80.33 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (173177105..173293606)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (173349547..173466040)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A High-Protein Diet Promotes Atrial Arrhythmogenesis via Absent-in-Melanoma 2 Inflammasome.
Title: A High-Protein Diet Promotes Atrial Arrhythmogenesis via Absent-in-Melanoma 2 Inflammasome.
TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2.
Title: TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2.
AIM2 fosters lung adenocarcinoma immune escape by modulating PD-L1 expression in tumor-associated macrophages via JAK/STAT3.
Title: AIM2 fosters lung adenocarcinoma immune escape by modulating PD-L1 expression in tumor-associated macrophages via JAK/STAT3.
Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis).
Title: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis).
Absent in melanoma 2 mediates aging-related cognitive dysfunction by acting on complement-dependent microglial phagocytosis.
Title: Absent in melanoma 2 mediates aging-related cognitive dysfunction by acting on complement-dependent microglial phagocytosis.
The cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome.
Title: The cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome.
Aim2 Deficiency Ameliorates Lacrimal Gland Destruction and Corneal Epithelium Defects in an Experimental Dry Eye Model.
Title: Aim2 Deficiency Ameliorates Lacrimal Gland Destruction and Corneal Epithelium Defects in an Experimental Dry Eye Model.
AIM2 inflammasome activation may mediate high mobility group box 1 release in murine allergic rhinitis.
Title: AIM2 inflammasome activation may mediate high mobility group box 1 release in murine allergic rhinitis.
Latent Upregulation of Nlrp3, Nlrc4 and Aim2 Differentiates between Asymptomatic and Symptomatic Trichomonas vaginalis Infection.
Title: Latent Upregulation of Nlrp3, Nlrc4 and Aim2 Differentiates between Asymptomatic and Symptomatic Trichomonas vaginalis Infection.
AIM2 Inflammasome Activation Contributes to Aortic Dissection in a Sporadic Aortic Disease Mouse Model.
Title: AIM2 Inflammasome Activation Contributes to Aortic Dissection in a Sporadic Aortic Disease Mouse Model.

Submit: New GeneRIF Correction See all GeneRIFs (107)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (5) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1Sta6 (e-PCR), detects polymorphism
- UniSTS:142276

06.MHAa63a6.seq (e-PCR)
- UniSTS:122842

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type endopeptidase activator activity	ISS Inferred from Sequence or Structural Similarity 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 double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info
enables signaling adaptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

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

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	ISO Inferred from Sequence Orthology more info
part_of canonical inflammasome complex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interferon-inducible protein AIM2

Names: ifi-210; interferon-inducible protein 210; interferon-inducible protein p210

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_001013779.2 → NP_001013801.2 interferon-inducible protein AIM2

See identical proteins and their annotated locations for NP_001013801.2

Status: VALIDATED

Source sequence(s)

AC084073, AK050724, DT921984

Consensus CDS

CCDS15529.2

UniProtKB/Swiss-Prot

Q91VJ1

Related

ENSMUSP00000132253.3, ENSMUST00000166137.3

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

173177105..173293606

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036166274.1 → XP_036022167.1 interferon-inducible protein AIM2 isoform X3

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 276

HIN; HIN-200/IF120x domain
XM_036166269.1 → XP_036022162.1 interferon-inducible protein AIM2 isoform X3

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 276

HIN; HIN-200/IF120x domain
XM_036166268.1 → XP_036022161.1 interferon-inducible protein AIM2 isoform X2

Conserved Domains (2) summary

cd08305
Location:10 → 58

Pyrin; a protein-protein interaction domain

pfam02760
Location:125 → 290

HIN; HIN-200/IF120x domain
XM_036166266.1 → XP_036022159.1 interferon-inducible protein AIM2 isoform X2

Conserved Domains (2) summary

cd08305
Location:10 → 58

Pyrin; a protein-protein interaction domain

pfam02760
Location:125 → 290

HIN; HIN-200/IF120x domain
XM_036166267.1 → XP_036022160.1 interferon-inducible protein AIM2 isoform X2

Conserved Domains (2) summary

cd08305
Location:10 → 58

Pyrin; a protein-protein interaction domain

pfam02760
Location:125 → 290

HIN; HIN-200/IF120x domain
XM_036166259.1 → XP_036022152.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166264.1 → XP_036022157.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166265.1 → XP_036022158.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_006496926.3 → XP_006496989.1 interferon-inducible protein AIM2 isoform X1

See identical proteins and their annotated locations for XP_006496989.1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_030255241.2 → XP_030111101.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166247.1 → XP_036022140.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166244.1 → XP_036022137.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166245.1 → XP_036022138.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166238.1 → XP_036022131.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166249.1 → XP_036022142.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Related

ENSMUSP00000119465.2, ENSMUST00000147604.8

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_017321496.3 → XP_017176985.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_017321486.3 → XP_017176975.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_017321501.3 → XP_017176990.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_017321492.3 → XP_017176981.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_017321498.3 → XP_017176987.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_011238835.3 → XP_011237137.1 interferon-inducible protein AIM2 isoform X1

See identical proteins and their annotated locations for XP_011237137.1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_011238842.3 → XP_011237144.1 interferon-inducible protein AIM2 isoform X1

See identical proteins and their annotated locations for XP_011237144.1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_006496919.4 → XP_006496982.1 interferon-inducible protein AIM2 isoform X1

See identical proteins and their annotated locations for XP_006496982.1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166246.1 → XP_036022139.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166248.1 → XP_036022141.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_011238831.4 → XP_011237133.1 interferon-inducible protein AIM2 isoform X1

See identical proteins and their annotated locations for XP_011237133.1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166260.1 → XP_036022153.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_036166262.1 → XP_036022155.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_017321505.3 → XP_017176994.1 interferon-inducible protein AIM2 isoform X1

UniProtKB/Swiss-Prot

Q91VJ1

Conserved Domains (2) summary

cd08305
Location:10 → 79

Pyrin; a protein-protein interaction domain

pfam02760
Location:156 → 321

HIN; HIN-200/IF120x domain
XM_030255292.2 → XP_030111152.1 interferon-inducible protein AIM2 isoform X2

Conserved Domains (2) summary

cd08305
Location:10 → 58

Pyrin; a protein-protein interaction domain

pfam02760
Location:125 → 290

HIN; HIN-200/IF120x domain
XM_006496929.3 → XP_006496992.1 interferon-inducible protein AIM2 isoform X4

Conserved Domains (1) summary

pfam02760
Location:13 → 178

HIN; HIN-200/IF120x domain