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AIM2 Gene

protein-coding   GIFtS: 56

GC01M157298
absent in melanoma 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
OTTHUMP00000035296 2
PYHIN4 1, 2
Descriptions
absent in melanoma 2 2, 3
External Ids
HGNC: 3571
Entrez Gene: 94472
UniProtKB: O148623
Ensembl: ENSG000001635687
Search outside databases for aliases for AIM2 gene

Previous GC identifers: GC01M156824 GC01M154764 GC01M155810 GC01M156249 GC01M155845

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AIM2:
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]

UniProtKB/Swiss-Prot: AIM2_HUMAN, O14862
Function: Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity

Gene Wiki entry for AIM2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AIM2 gene  

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q22

AIM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M157298:     (about GC identifiers)

Start:
157,298,665 bp from pter
End:
157,313,271 bp from pter
Size:
14,607 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AIM2_HUMAN, O14862 (See protein sequence)
Recommended Name: Interferon-inducible protein AIM2  
Size: 343 amino acids; 38954 Da
Subunit: Homodimer
Subcellular location: Nucleus
Sequence caution: Sequence=AAH10940.1; Type=Frameshift; Positions=340;
Secondary accessions: A8K7M7 Q5T3V9 Q96FG9

REFSEQ proteins: NP_004824.1  

ENSEMBL proteins: 
ENSP00000357111 ENSP00000357112 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (AIM2)
Human Recombinant Proteins from Abnova (AIM2)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
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Antibodies for AIM2: 
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Antibodies from Abcam (AIM2), each with their AbpromiseSM
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Novus Biologicals Antibodies for AIM2

Assays for AIM2: 
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Browse Kits and Assays available from Millipore
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Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro domains/families:
 IPR004021 HIN200/IF120x
 IPR011029 DEATH-like
 IPR004020 Pyrin


   GeneDecks  AIM2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry O14862

ProtoNet protein and cluster: O14862

2 Blocks protein families:
IPB004020 Pyrin domain
IPB004021 HIN-200/IF120x domain


UniProtKB/Swiss-Prot: AIM2_HUMAN, O14862
Similarity: Belongs to the HIN-200 family
Similarity: Contains 1 DAPIN domain
Similarity: Contains 1 HIN-200 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AIM2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004833

              Applied Biosystems Silencer® siRNAs for AIM2

              Sigma-Aldrich siRNA for AIM2  
                     Sigma-Aldrich shRNA for AIM2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for AIM2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004833
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004833
                                 untagged cDNA clone in CMV expression vector: NM_004833 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_004833

UniProtKB/Swiss-Prot: AIM2_HUMAN, O14862
Function: Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity
Induction: By interferon gamma

Genatlas biochemistry entry for AIM2:
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

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IEA--
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Interacting protein for AIM2 (ENSP000003571113) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
SULT2B1ENSP000002015863STRING (score=.737)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006955 immune response TAS9242382
GO:0045786 negative regulation of cell cycle IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AIM2
1 Novoseek chemical compound relationship for AIM2 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
mnda 97.78 7 9242382 (2), 10828447 (1), 11215814 (1), 17911419 (1) (see all 6)
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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AIM2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004833

              Sigma-Aldrich siRNA for AIM2  
                     Sigma-Aldrich shRNA for AIM2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_004833  

REFSEQ mRNAs for AIM2 gene: 

NM_004833.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_004833  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004833
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004833
                                 untagged cDNA clone in CMV expression vector: NM_004833 

Additional cDNA sequence: 

AF024714.1 AK292042.1 BC010940.1 U52053.1 

7 DOTS entries:

DT.310623  DT.100711389  DT.97770207  DT.100649691  DT.102831425  DT.310624  DT.92415868 

24/34 AceView cDNA sequences (see all 34 ):

CB053629 AA458912 BM717965 AF024714 NM_004833 CD703806 BU943059 AW294096 
AA555091 AA459132 AA568884 CB151016 AA215558 CD107288 AA767288 BU599245 
BC010940 U52053 CA432643 CF137554 CD366430 BP339102 BI912227 BF244586 

highest scoring ESTs for AIM2:

AF024714 AA459132 BC010940 BI912227 BU599245 BU934160 BU943059 CB053630 AA555091 AA568884 

Unigene Cluster for AIM2:

Absent in melanoma 2
Hs.281898  [show with all ESTs]
Unigene Representative Sequence: AK292042


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:
ENST00000368129  ENST00000368130  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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AIM2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AIM2

1 / 2 / 3

3 probe-sets matching AIM2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
34439_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF024714 1.00 1.00 1.00 1

206513_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004833 0.60 1.00 0.82 1

206513_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  AIM2 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
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CGAP SAGE TAG: CTACAGTGGC

SOURCE GeneReport for Unigene cluster: Hs.281898

Expression variation in blood from EXPOLDB for AIM2

UniProtKB/Swiss-Prot: AIM2_HUMAN, O14862
Tissue specificity: Expressed in spleen, small intestine, peripheral blood leukocytes, and testis

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for AIM2 gene from 3 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
AIM21   -- absent in melanoma 2 98.74(n)
97.96(a)
457425  XM_513914.2  XP_513914.2 
rat
(Rattus norvegicus)
Aim21   -- absent in melanoma 2 69.11(n)
57.48(a)
304987  XM_222949.4  XP_222949.4 
mouse
(Mus musculus)
Aim21, 5 15
absent in melanoma 21, 5 67.77(n)1
57.02(a)1
3836191  NM_001013779.11  NP_001013801.11 
 AC0840735  AK0507245  (see all 7)
About this table        Species with no ortholog for AIM2

ENSEMBL Gene Tree for AIM2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for AIM2 gene
IFI162  PYHIN12  MNDA2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/75 NCBI SNPs in AIM2 are shown (see all 75 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 46)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs27938451,2
C,F,H,O157298879(+) CTAAAT/GGAGAT 1 -- ng518Minor allele frequency- G:0.22EU EA WA NA 630
rs8558731,2
C,F,H157314336(+) TCATGG/AAAACA 1 -- ng3111Minor allele frequency- A:0.16EU EA WA NA 956
rs22988031,2
C,F,H157313054(+) CCTGAT/CCCCTG 1 -- ut51 ese35Minor allele frequency- C:0.19EA EU WA 1908
rs22764051,2
C,F,H157309820(+) AAACTC/TGTCTG 1 E/K mis1 ese313Minor allele frequency- T:0.05EA NA EU WA 2136
rs168416421,2
C,F,H157313422(+) ACTTTG/TTGACT 1 -- ng3112Minor allele frequency- T:0.14NA EU EA WA 1056
rs112651391,2
F,H157313795(+) aactgT/Ccatgg 1 -- ng314Minor allele frequency- C:0.01EU EA WA 418
rs25709211,2
H157313487(+) GGTATC/TTAAAA 1 -- ng314Minor allele frequency- T:0.00EU EA WA 420
rs42929581,2
H157305077(+) ACTTAG/ATGGCT 1 L/L syn1 ese34Minor allele frequency- A:0.00EU EA WA 412
rs344798211,2
F157309665(-) CAGGAG/AGAGAA 1 E/E syn11Minor allele frequency- A:0.04NA 78
rs8558711,2
A,C,F,H,O157311275(+) aatggA/Gaagat 1 -- int18Minor allele frequency- G:0.31MN EU EA WA NA 736
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HapMap Linkage Disequilibrium images for AIM2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 604578

UniProtKB/Swiss-Prot: AIM2_HUMAN, O14862
  • Defects in AIM2 may be a cause of microsatellite unstable colon cancers
  • 2 Novoseek disease relationships for AIM2 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 34.13 6 10828447 (2), 15582594 (2), 9242382 (1)
    tumors 0.00 3 15076139 (2), 15582594 (1)
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    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/18 PubMed articles for AIM2 gene (see all 18 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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    Entrez Gene: 9447 HGNC: 357 AceView: AIM2 Ensembl:ENSG00000163568 euGenes: HUgn9447
    ECgene: AIM2 H-InvDB: AIM2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for AIM2 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AIM2:
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     TaqMan ® Genotyping Assays
      Free SNP selection tool



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