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AP2A2 (adaptor related protein complex 2 alpha 2 subunit)

Identity

Alias_namesCLAPA2
ADTAB
adaptor-related protein complex 2
Alias_symbol (synonym)DKFZP564D1864
HYPJ
KIAA0899
HIP9
Other aliasHIP-9
HGNC (Hugo) AP2A2
LocusID (NCBI) 161
Atlas_Id 54130
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 925809 and ends at 1012245 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AP2A2 (11p15.5) / ACVRL1 (12q13.13)AP2A2 (11p15.5) / EPS8L2 (11p15.5)AP2A2 (11p15.5) / PSMD13 (11p15.5)
AP2A2 (11p15.5) / TMEM80 (11p15.5)AP2A2 (11p15.5) / TRIM22 (11p15.4)HOTAIRM1 (7p15.2) / AP2A2 (11p15.5)
KMT2A (11q23.3) / AP2A2 (11p15.5)PLEKHA7 (11p15.1) / AP2A2 (11p15.5)SFMBT1 (3p21.1) / AP2A2 (11p15.5)
ZNF93 (19p12) / AP2A2 (11p15.5)AP2A2 11p15.5 / EPS8L2 11p15.5AP2A2 11p15.5 / PSMD13 11p15.5
AP2A2 11p15.5 / TMEM80 11p15.5AP2A2 11p15.5 / TRIM22 11p15.4PLEKHA7 11p15.1 / AP2A2 11p15.5

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;14)(p15;q22) AP2A2/NID2


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)AP2A2   562
Cards
Entrez_Gene (NCBI)AP2A2  161  adaptor related protein complex 2 alpha 2 subunit
AliasesADTAB; CLAPA2; HIP-9; HIP9; 
HYPJ
GeneCards (Weizmann)AP2A2
Ensembl hg19 (Hinxton)ENSG00000183020 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183020 [Gene_View]  chr11:925809-1012245 [Contig_View]  AP2A2 [Vega]
ICGC DataPortalENSG00000183020
TCGA cBioPortalAP2A2
AceView (NCBI)AP2A2
Genatlas (Paris)AP2A2
WikiGenes161
SOURCE (Princeton)AP2A2
Genetics Home Reference (NIH)AP2A2
Genomic and cartography
GoldenPath hg38 (UCSC)AP2A2  -     chr11:925809-1012245 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP2A2  -     11p15.5   [Description]    (hg19-Feb_2009)
EnsemblAP2A2 - 11p15.5 [CytoView hg19]  AP2A2 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIAP2A2 [Mapview hg19]  AP2A2 [Mapview hg38]
OMIM607242   
Gene and transcription
Genbank (Entrez)AB020706 AB209422 AF049527 AK001986 AK027640
RefSeq transcript (Entrez)NM_001242837 NM_012305
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_187656 NT_187681
Consensus coding sequences : CCDS (NCBI)AP2A2
Cluster EST : UnigeneHs.19121 [ NCBI ]
CGAP (NCI)Hs.19121
Alternative Splicing GalleryENSG00000183020
Gene ExpressionAP2A2 [ NCBI-GEO ]   AP2A2 [ EBI - ARRAY_EXPRESS ]   AP2A2 [ SEEK ]   AP2A2 [ MEM ]
Gene Expression Viewer (FireBrowse)AP2A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)161
GTEX Portal (Tissue expression)AP2A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94973   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94973  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94973
Splice isoforms : SwissVarO94973
PhosPhoSitePlusO94973
Domains : Interpro (EBI)AP2_complex_asu    ARM-like    ARM-type_fold    Clathrin/coatomer_adapt-like_N    Clathrin_a-adaptin_app_Ig-like    Clathrin_a-adaptin_app_sub_C    Clathrin_a/b/g-adaptin_app_Ig    Clathrin_a/coatomer_app_sub_C    Coatomer/calthrin_app_sub_C    Coatomer/clathrin_app_Ig-like   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    Alpha_adaptin_C (PF02296)    Alpha_adaptinC2 (PF02883)   
Domain families : Pfam (NCBI)pfam01602    pfam02296    pfam02883   
Domain families : Smart (EMBL)Alpha_adaptinC2 (SM00809)  
Conserved Domain (NCBI)AP2A2
DMDM Disease mutations161
Blocks (Seattle)AP2A2
SuperfamilyO94973
Human Protein AtlasENSG00000183020
Peptide AtlasO94973
HPRD06256
IPIIPI00914938   IPI00016621   IPI00914952   IPI00982009   IPI00166396   IPI00556111   IPI00984039   IPI00983357   IPI00976649   IPI00984099   IPI00977208   IPI00983500   IPI00977811   IPI00976074   
Protein Interaction databases
DIP (DOE-UCLA)O94973
IntAct (EBI)O94973
FunCoupENSG00000183020
BioGRIDAP2A2
STRING (EMBL)AP2A2
ZODIACAP2A2
Ontologies - Pathways
QuickGOO94973
Ontology : AmiGOmolecular_function  protein binding  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  lipid binding  protein transporter activity  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein kinase binding  AP-2 adaptor complex  endocytic vesicle membrane  secretory granule membrane  clathrin-coated endocytic vesicle membrane  cytoplasmic vesicle  clathrin adaptor activity  endolysosome membrane  neutrophil degranulation  ephrin receptor signaling pathway  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  membrane organization  clathrin-dependent endocytosis  disordered domain specific binding  ficolin-1-rich granule membrane  
Ontology : EGO-EBImolecular_function  protein binding  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  lipid binding  protein transporter activity  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein kinase binding  AP-2 adaptor complex  endocytic vesicle membrane  secretory granule membrane  clathrin-coated endocytic vesicle membrane  cytoplasmic vesicle  clathrin adaptor activity  endolysosome membrane  neutrophil degranulation  ephrin receptor signaling pathway  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  membrane organization  clathrin-dependent endocytosis  disordered domain specific binding  ficolin-1-rich granule membrane  
Pathways : KEGGEndocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Huntington's disease   
NDEx NetworkAP2A2
Atlas of Cancer Signalling NetworkAP2A2
Wikipedia pathwaysAP2A2
Orthology - Evolution
OrthoDB161
GeneTree (enSembl)ENSG00000183020
Phylogenetic Trees/Animal Genes : TreeFamAP2A2
HOVERGENO94973
HOGENOMO94973
Homologs : HomoloGeneAP2A2
Homology/Alignments : Family Browser (UCSC)AP2A2
Gene fusions - Rearrangements
Fusion : MitelmanAP2A2/EPS8L2 [11p15.5/11p15.5]  
Fusion : MitelmanAP2A2/PSMD13 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanAP2A2/TMEM80 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanAP2A2/TRIM22 [11p15.5/11p15.4]  [t(11;11)(p15;p15)]  
Fusion : MitelmanPLEKHA7/AP2A2 [11p15.1/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanSFMBT1/AP2A2 [3p21.1/11p15.5]  [t(3;11)(p21;p15)]  
Fusion: TCGAAP2A2 11p15.5 EPS8L2 11p15.5 LUSC
Fusion: TCGAAP2A2 11p15.5 PSMD13 11p15.5 LUSC
Fusion: TCGAAP2A2 11p15.5 TMEM80 11p15.5 BRCA
Fusion: TCGAAP2A2 11p15.5 TRIM22 11p15.4 HNSC
Fusion: TCGAPLEKHA7 11p15.1 AP2A2 11p15.5 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP2A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP2A2
dbVarAP2A2
ClinVarAP2A2
1000_GenomesAP2A2 
Exome Variant ServerAP2A2
ExAC (Exome Aggregation Consortium)AP2A2 (select the gene name)
Genetic variants : HAPMAP161
Genomic Variants (DGV)AP2A2 [DGVbeta]
DECIPHERAP2A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP2A2 
Mutations
ICGC Data PortalAP2A2 
TCGA Data PortalAP2A2 
Broad Tumor PortalAP2A2
OASIS PortalAP2A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP2A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP2A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AP2A2
DgiDB (Drug Gene Interaction Database)AP2A2
DoCM (Curated mutations)AP2A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP2A2 (select a term)
intoGenAP2A2
Cancer3DAP2A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607242   
Orphanet
MedgenAP2A2
Genetic Testing Registry AP2A2
NextProtO94973 [Medical]
TSGene161
GENETestsAP2A2
Huge Navigator AP2A2 [HugePedia]
snp3D : Map Gene to Disease161
BioCentury BCIQAP2A2
ClinGenAP2A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD161
Chemical/Pharm GKB GenePA24853
Clinical trialAP2A2
Miscellaneous
canSAR (ICR)AP2A2 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP2A2
EVEXAP2A2
GoPubMedAP2A2
iHOPAP2A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:06:10 CEST 2017

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