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AP2A2 (adaptor related protein complex 2 subunit alpha 2)

Identity

Alias (NCBI)ADTAB
CLAPA2
HIP-9
HIP9
HYPJ
HGNC (Hugo) AP2A2
HGNC Alias symbDKFZP564D1864
HYPJ
KIAA0899
HIP9
HGNC Alias namealpha-adaptin C; Huntingtin interacting protein J
 adaptin, alpha B
 clathrin-associated/assembly/adaptor protein, large, alpha 2
HGNC Previous nameCLAPA2
 ADTAB
HGNC Previous nameadaptor related protein complex 2 subunit alpha 2
 adaptor related protein complex 2 alpha 2 subunit
LocusID (NCBI) 161
Atlas_Id 54130
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 925870 and ends at 1012240 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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) [ 2 ]
  t(11;14)(p15;q22) AP2A2::NID2
t(11;11)(p15;q23) KMT2A::AP2A2


External links

 

Nomenclature
HGNC (Hugo)AP2A2   562
Cards
Entrez_Gene (NCBI)AP2A2    adaptor related protein complex 2 subunit alpha 2
AliasesADTAB; CLAPA2; HIP-9; HIP9; 
HYPJ
GeneCards (Weizmann)AP2A2
Ensembl hg19 (Hinxton)ENSG00000183020 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183020 [Gene_View]  ENSG00000183020 [Sequence]  chr11:925870-1012240 [Contig_View]  AP2A2 [Vega]
ICGC DataPortalENSG00000183020
TCGA cBioPortalAP2A2
AceView (NCBI)AP2A2
Genatlas (Paris)AP2A2
SOURCE (Princeton)AP2A2
Genetics Home Reference (NIH)AP2A2
Genomic and cartography
GoldenPath hg38 (UCSC)AP2A2  -     chr11:925870-1012240 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP2A2  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathAP2A2 - 11p15.5 [CytoView hg19]  AP2A2 - 11p15.5 [CytoView hg38]
ImmunoBaseENSG00000183020
Genome Data Viewer NCBIAP2A2 [Mapview hg19]  
OMIM607242   
Gene and transcription
Genbank (Entrez)AB020706 AB209422 AF049527 AK001986 AK027640
RefSeq transcript (Entrez)NM_001242837 NM_012305
Consensus coding sequences : CCDS (NCBI)AP2A2
Gene ExpressionAP2A2 [ NCBI-GEO ]   AP2A2 [ EBI - ARRAY_EXPRESS ]   AP2A2 [ SEEK ]   AP2A2 [ MEM ]
Gene Expression Viewer (FireBrowse)AP2A2 [ Firebrowse - Broad ]
GenevisibleExpression of AP2A2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)161
GTEX Portal (Tissue expression)AP2A2
Human Protein AtlasENSG00000183020-AP2A2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO94973
Domains : Interpro (EBI)AP2_complex_asu    ARM-like    ARM-type_fold    Clathrin/coatomer_adapt-like_N    Clathrin_a-adaptin_app_sub_C    Clathrin_a/b/g-adaptin_app_Ig    Clathrin_app_Ig-like_sf    Coatomer/calthrin_app_sub_C    TBP_dom_sf   
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
SuperfamilyO94973
AlphaFold pdb e-kbO94973   
Human Protein Atlas [tissue]ENSG00000183020-AP2A2 [tissue]
HPRD06256
Protein Interaction databases
DIP (DOE-UCLA)O94973
IntAct (EBI)O94973
BioGRIDAP2A2
STRING (EMBL)AP2A2
ZODIACAP2A2
Ontologies - Pathways
QuickGOO94973
Ontology : AmiGOmolecular_function  protein binding  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  lipid binding  protein kinase binding  AP-2 adaptor complex  AP-2 adaptor complex  AP-2 adaptor complex  endocytic vesicle membrane  secretory granule membrane  clathrin-coated endocytic vesicle membrane  cytoplasmic vesicle  clathrin adaptor activity  clathrin adaptor activity  endolysosome membrane  clathrin-coated endocytic vesicle  clathrin-dependent endocytosis  clathrin-dependent endocytosis  clathrin-dependent endocytosis  clathrin-dependent endocytosis  disordered domain specific binding  ficolin-1-rich granule membrane  cargo adaptor activity  
Ontology : EGO-EBImolecular_function  protein binding  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  lipid binding  protein kinase binding  AP-2 adaptor complex  AP-2 adaptor complex  AP-2 adaptor complex  endocytic vesicle membrane  secretory granule membrane  clathrin-coated endocytic vesicle membrane  cytoplasmic vesicle  clathrin adaptor activity  clathrin adaptor activity  endolysosome membrane  clathrin-coated endocytic vesicle  clathrin-dependent endocytosis  clathrin-dependent endocytosis  clathrin-dependent endocytosis  clathrin-dependent endocytosis  disordered domain specific binding  ficolin-1-rich granule membrane  cargo adaptor activity  
Pathways : KEGGKEGG_ENDOCYTOSIS    KEGG_HUNTINGTONS_DISEASE   
NDEx NetworkAP2A2
Atlas of Cancer Signalling NetworkAP2A2
Wikipedia pathwaysAP2A2
Orthology - Evolution
OrthoDB161
GeneTree (enSembl)ENSG00000183020
Phylogenetic Trees/Animal Genes : TreeFamAP2A2
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]  
Fusion : MitelmanAP2A2::TMEM80 [11p15.5/11p15.5]  
Fusion : MitelmanAP2A2::TRIM22 [11p15.5/11p15.4]  
Fusion : MitelmanPLEKHA7::AP2A2 [11p15.1/11p15.5]  
Fusion : MitelmanSFMBT1::AP2A2 [3p21.1/11p15.5]  
Fusion : QuiverAP2A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP2A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP2A2
dbVarAP2A2
ClinVarAP2A2
MonarchAP2A2
1000_GenomesAP2A2 
Exome Variant ServerAP2A2
GNOMAD BrowserENSG00000183020
Varsome BrowserAP2A2
ACMGAP2A2 variants
VarityO94973
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]  
Somatic Mutations in Cancer : COSMIC3DAP2A2
Mutations and Diseases : HGMDAP2A2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAP2A2
DgiDB (Drug Gene Interaction Database)AP2A2
DoCM (Curated mutations)AP2A2
CIViC (Clinical Interpretations of Variants in Cancer)AP2A2
Cancer3DAP2A2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607242   
Orphanet
DisGeNETAP2A2
MedgenAP2A2
Genetic Testing Registry AP2A2
NextProtO94973 [Medical]
GENETestsAP2A2
Target ValidationAP2A2
Huge Navigator AP2A2 [HugePedia]
ClinGenAP2A2
Clinical trials, drugs, therapy
MyCancerGenomeAP2A2
Protein Interactions : CTDAP2A2
Pharm GKB GenePA24853
PharosO94973
Clinical trialAP2A2
Miscellaneous
canSAR (ICR)AP2A2
HarmonizomeAP2A2
ARCHS4AP2A2
DataMed IndexAP2A2
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAP2A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:41 CET 2022

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