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

Gene ID: 9447, updated on 6-Nov-2022

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
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Genomic context

See AIM2 in Genome Data Viewer
Location:
1q23.1; 1q23.1-q23.2
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159055051..159147132, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158199525..158213801, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159032274..159046556, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904432 Neighboring gene pyrin domain containing 5 Neighboring gene interferon gamma inducible protein 16 Neighboring gene RAD1 pseudogene 2 Neighboring gene tRNA-Arg (anticodon TCT) 4-1 Neighboring gene RNA, 5S ribosomal pseudogene 60 Neighboring gene cell adhesion molecule 3 Neighboring gene CADM3 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in NLRP3 inflammasome complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in activation of innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in activation of innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to interferon-beta IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cellular response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in defense response to virus IC
Inferred by Curator
more info
PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
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 pattern recognition receptor signaling pathway IC
Inferred by Curator
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 IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyroptosis IC
Inferred by Curator
more info
PubMed 
involved_in pyroptosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyroptosome complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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 
located_in cytoplasm IC
Inferred by Curator
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

  1. NM_001348247.2NP_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
    Related
    ENSP00000512038.1, ENST00000695579.1
    Conserved Domains (1) summary
    pfam02760
    Location:45212
    HIN; HIN-200/IF120x domain
  2. NM_004833.3NP_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
    O14862, Q96FG9
    Related
    ENSP00000357112.4, ENST00000368130.9
    Conserved Domains (2) summary
    cd08305
    Location:1082
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:150317
    HIN; HIN-200/IF120x domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    159055051..159147132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q96FG9
  2. XM_047434808.1XP_047290764.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    Q96FG9
    Related
    ENSP00000512039.1, ENST00000411768.2
  3. XM_047434811.1XP_047290767.1  interferon-inducible protein AIM2 isoform X1

    UniProtKB/Swiss-Prot
    Q96FG9

RNA

  1. XR_007064924.1 RNA Sequence

  2. XR_001737547.3 RNA Sequence

  3. XR_001737544.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    158199525..158213801 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)