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AIM2 (absent in melanoma 2)

Identity

Alias_symbol (synonym)PYHIN4
Other alias
HGNC (Hugo) AIM2
LocusID (NCBI) 9447
Atlas_Id 53092
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 159032275 and ends at 159046647 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ASH1L (1q22) / AIM2 (1q23.1)TBCE (1q42.3) / AIM2 (1q23.1)ASH1L 1q22 / AIM2 1q23.1
TBCE 1q42.3 / AIM2 1q23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AIM2   357
Cards
Entrez_Gene (NCBI)AIM2  9447  absent in melanoma 2
AliasesPYHIN4
GeneCards (Weizmann)AIM2
Ensembl hg19 (Hinxton)ENSG00000163568 [Gene_View]  chr1:159032275-159046647 [Contig_View]  AIM2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163568 [Gene_View]  chr1:159032275-159046647 [Contig_View]  AIM2 [Vega]
ICGC DataPortalENSG00000163568
TCGA cBioPortalAIM2
AceView (NCBI)AIM2
Genatlas (Paris)AIM2
WikiGenes9447
SOURCE (Princeton)AIM2
Genetics Home Reference (NIH)AIM2
Genomic and cartography
GoldenPath hg19 (UCSC)AIM2  -     chr1:159032275-159046647 -  1q23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AIM2  -     1q23.1   [Description]    (hg38-Dec_2013)
EnsemblAIM2 - 1q23.1 [CytoView hg19]  AIM2 - 1q23.1 [CytoView hg38]
Mapping of homologs : NCBIAIM2 [Mapview hg19]  AIM2 [Mapview hg38]
OMIM604578   
Gene and transcription
Genbank (Entrez)AF024714 AK292042 BC010940 U52053
RefSeq transcript (Entrez)NM_004833
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)AIM2
Cluster EST : UnigeneHs.733411 [ NCBI ]
CGAP (NCI)Hs.733411
Alternative Splicing GalleryENSG00000163568
Gene ExpressionAIM2 [ NCBI-GEO ]   AIM2 [ EBI - ARRAY_EXPRESS ]   AIM2 [ SEEK ]   AIM2 [ MEM ]
Gene Expression Viewer (FireBrowse)AIM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9447
GTEX Portal (Tissue expression)AIM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14862   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14862  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14862
Splice isoforms : SwissVarO14862
PhosPhoSitePlusO14862
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    HIN_200 (PS50834)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    HIN200/IF120x    NA-bd_OB-fold   
Domain families : Pfam (Sanger)HIN (PF02760)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam02760    pfam02758   
Conserved Domain (NCBI)AIM2
DMDM Disease mutations9447
Blocks (Seattle)AIM2
PDB (SRS)3RN2    3RN5    3VD8    4O7Q   
PDB (PDBSum)3RN2    3RN5    3VD8    4O7Q   
PDB (IMB)3RN2    3RN5    3VD8    4O7Q   
PDB (RSDB)3RN2    3RN5    3VD8    4O7Q   
Structural Biology KnowledgeBase3RN2    3RN5    3VD8    4O7Q   
SCOP (Structural Classification of Proteins)3RN2    3RN5    3VD8    4O7Q   
CATH (Classification of proteins structures)3RN2    3RN5    3VD8    4O7Q   
SuperfamilyO14862
Human Protein AtlasENSG00000163568
Peptide AtlasO14862
HPRD05202
IPIIPI00844168   IPI00647068   IPI00647481   
Protein Interaction databases
DIP (DOE-UCLA)O14862
IntAct (EBI)O14862
FunCoupENSG00000163568
BioGRIDAIM2
STRING (EMBL)AIM2
ZODIACAIM2
Ontologies - Pathways
QuickGOO14862
Ontology : AmiGOactivation of innate immune response  positive regulation of defense response to virus by host  double-stranded DNA binding  protein binding  nucleus  cytoplasm  cytosol  apoptotic process  inflammatory response  immune response  negative regulation of NF-kappaB transcription factor activity  positive regulation of protein oligomerization  positive regulation of interleukin-1 beta production  tumor necrosis factor-mediated signaling pathway  cellular response to interferon-beta  cellular response to drug  identical protein binding  innate immune response  interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  positive regulation of NF-kappaB transcription factor activity  pyroptosis  AIM2 inflammasome complex  positive regulation of cysteine-type endopeptidase activity  
Ontology : EGO-EBIactivation of innate immune response  positive regulation of defense response to virus by host  double-stranded DNA binding  protein binding  nucleus  cytoplasm  cytosol  apoptotic process  inflammatory response  immune response  negative regulation of NF-kappaB transcription factor activity  positive regulation of protein oligomerization  positive regulation of interleukin-1 beta production  tumor necrosis factor-mediated signaling pathway  cellular response to interferon-beta  cellular response to drug  identical protein binding  innate immune response  interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  positive regulation of NF-kappaB transcription factor activity  pyroptosis  AIM2 inflammasome complex  positive regulation of cysteine-type endopeptidase activity  
Pathways : KEGGCytosolic DNA-sensing pathway   
NDEx NetworkAIM2
Atlas of Cancer Signalling NetworkAIM2
Wikipedia pathwaysAIM2
Orthology - Evolution
OrthoDB9447
GeneTree (enSembl)ENSG00000163568
Phylogenetic Trees/Animal Genes : TreeFamAIM2
HOVERGENO14862
HOGENOMO14862
Homologs : HomoloGeneAIM2
Homology/Alignments : Family Browser (UCSC)AIM2
Gene fusions - Rearrangements
Fusion : MitelmanASH1L/AIM2 [1q22/1q23.1]  [t(1;1)(q22;q23)]  
Fusion : MitelmanTBCE/AIM2 [1q42.3/1q23.1]  [t(1;1)(q23;q42)]  
Fusion: TCGAASH1L 1q22 AIM2 1q23.1 BRCA
Fusion: TCGATBCE 1q42.3 AIM2 1q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAIM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIM2
dbVarAIM2
ClinVarAIM2
1000_GenomesAIM2 
Exome Variant ServerAIM2
ExAC (Exome Aggregation Consortium)AIM2 (select the gene name)
Genetic variants : HAPMAP9447
Genomic Variants (DGV)AIM2 [DGVbeta]
DECIPHER (Syndromes)1:159032275-159046647  ENSG00000163568
CONAN: Copy Number AnalysisAIM2 
Mutations
ICGC Data PortalAIM2 
TCGA Data PortalAIM2 
Broad Tumor PortalAIM2
OASIS PortalAIM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAIM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAIM2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AIM2
DgiDB (Drug Gene Interaction Database)AIM2
DoCM (Curated mutations)AIM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AIM2 (select a term)
intoGenAIM2
Cancer3DAIM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604578   
Orphanet
MedgenAIM2
Genetic Testing Registry AIM2
NextProtO14862 [Medical]
TSGene9447
GENETestsAIM2
Huge Navigator AIM2 [HugePedia]
snp3D : Map Gene to Disease9447
BioCentury BCIQAIM2
ClinGenAIM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9447
Chemical/Pharm GKB GenePA24651
Clinical trialAIM2
Miscellaneous
canSAR (ICR)AIM2 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAIM2
EVEXAIM2
GoPubMedAIM2
iHOPAIM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:51:59 CEST 2017

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