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AP2A1 (adaptor related protein complex 2 alpha 1 subunit)

Identity

Alias_namesCLAPA1
ADTAA
adaptor-related protein complex 2
Other aliasAP2-ALPHA
HGNC (Hugo) AP2A1
LocusID (NCBI) 160
Atlas_Id 50118
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49766923 and ends at 49807112 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AP2A1 (19q13.33) / DHDH (19q13.33)AP2A1 (19q13.33) / NECAB3 (20q11.22)AP2A1 (19q13.33) / TOLLIP (11p15.5)
AP2A1 (19q13.33) / TXNRD2 (22q11.21)MED25 (19q13.33) / AP2A1 (19q13.33)PIK3R3 (1p34.1) / AP2A1 (19q13.33)
QARS (3p21.31) / AP2A1 (19q13.33)S100A6 (1q21.3) / AP2A1 (19q13.33)TCEANC2 (1p32.3) / AP2A1 (19q13.33)
ZBTB17 (1p36.13) / AP2A1 (19q13.33)ZNF544 (19q13.43) / AP2A1 (19q13.33)AP2A1 19q13.33 / DHDH 19q13.33
MED25 19q13.33 / AP2A1 19q13.33ZNF544 19q13.43 / AP2A1 19q13.33

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;11)(q14;q23) KMT2A/PICALM::inv(11)(q14q23) KMT2A/PICALM


External links

Nomenclature
HGNC (Hugo)AP2A1   561
Cards
Entrez_Gene (NCBI)AP2A1  160  adaptor related protein complex 2 alpha 1 subunit
AliasesADTAA; AP2-ALPHA; CLAPA1
GeneCards (Weizmann)AP2A1
Ensembl hg19 (Hinxton)ENSG00000196961 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196961 [Gene_View]  chr19:49766923-49807112 [Contig_View]  AP2A1 [Vega]
ICGC DataPortalENSG00000196961
TCGA cBioPortalAP2A1
AceView (NCBI)AP2A1
Genatlas (Paris)AP2A1
WikiGenes160
SOURCE (Princeton)AP2A1
Genetics Home Reference (NIH)AP2A1
Genomic and cartography
GoldenPath hg38 (UCSC)AP2A1  -     chr19:49766923-49807112 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP2A1  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblAP2A1 - 19q13.33 [CytoView hg19]  AP2A1 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIAP2A1 [Mapview hg19]  AP2A1 [Mapview hg38]
OMIM601026   
Gene and transcription
Genbank (Entrez)AK090661 AK094317 AK096757 AK124343 AK302005
RefSeq transcript (Entrez)NM_014203 NM_130787
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP2A1
Cluster EST : UnigeneHs.467125 [ NCBI ]
CGAP (NCI)Hs.467125
Alternative Splicing GalleryENSG00000196961
Gene ExpressionAP2A1 [ NCBI-GEO ]   AP2A1 [ EBI - ARRAY_EXPRESS ]   AP2A1 [ SEEK ]   AP2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)160
GTEX Portal (Tissue expression)AP2A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95782   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95782  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95782
Splice isoforms : SwissVarO95782
PhosPhoSitePlusO95782
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)AP2A1
DMDM Disease mutations160
Blocks (Seattle)AP2A1
SuperfamilyO95782
Human Protein AtlasENSG00000196961
Peptide AtlasO95782
HPRD03016
IPIIPI00304577   IPI00256684   IPI00909810   
Protein Interaction databases
DIP (DOE-UCLA)O95782
IntAct (EBI)O95782
FunCoupENSG00000196961
BioGRIDAP2A1
STRING (EMBL)AP2A1
ZODIACAP2A1
Ontologies - Pathways
QuickGOO95782
Ontology : AmiGOprotein binding  cytosol  plasma membrane  intracellular protein transport  Golgi to endosome transport  endocytosis  receptor-mediated endocytosis  microtubule-based movement  protein C-terminus binding  protein transporter activity  membrane  basolateral plasma membrane  apical plasma membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein kinase binding  AP-2 adaptor complex  AP-2 adaptor complex  clathrin coat of trans-Golgi network vesicle  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  protein complex binding  filopodium tip  clathrin adaptor activity  endolysosome membrane  ephrin receptor signaling pathway  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  membrane organization  clathrin-dependent endocytosis  negative regulation of hyaluronan biosynthetic process  negative regulation of hyaluronan biosynthetic process  
Ontology : EGO-EBIprotein binding  cytosol  plasma membrane  intracellular protein transport  Golgi to endosome transport  endocytosis  receptor-mediated endocytosis  microtubule-based movement  protein C-terminus binding  protein transporter activity  membrane  basolateral plasma membrane  apical plasma membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein kinase binding  AP-2 adaptor complex  AP-2 adaptor complex  clathrin coat of trans-Golgi network vesicle  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  protein complex binding  filopodium tip  clathrin adaptor activity  endolysosome membrane  ephrin receptor signaling pathway  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  membrane organization  clathrin-dependent endocytosis  negative regulation of hyaluronan biosynthetic process  negative regulation of hyaluronan biosynthetic process  
Pathways : BIOCARTA?-arrestins in GPCR Desensitization [Genes]    Endocytotic role of NDK, Phosphins and Dynamin [Genes]    Phosphoinositides and their downstream targets. [Genes]   
Pathways : KEGGEndocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Huntington's disease   
NDEx NetworkAP2A1
Atlas of Cancer Signalling NetworkAP2A1
Wikipedia pathwaysAP2A1
Orthology - Evolution
OrthoDB160
GeneTree (enSembl)ENSG00000196961
Phylogenetic Trees/Animal Genes : TreeFamAP2A1
HOVERGENO95782
HOGENOMO95782
Homologs : HomoloGeneAP2A1
Homology/Alignments : Family Browser (UCSC)AP2A1
Gene fusions - Rearrangements
Fusion : MitelmanAP2A1/DHDH [19q13.33/19q13.33]  
Fusion : MitelmanMED25/AP2A1 [19q13.33/19q13.33]  [t(19;19)(q13;q13)]  
Fusion : MitelmanZNF544/AP2A1 [19q13.43/19q13.33]  [t(19;19)(q13;q13)]  
Fusion: TCGAAP2A1 19q13.33 DHDH 19q13.33 BRCA
Fusion: TCGAMED25 19q13.33 AP2A1 19q13.33 BRCA
Fusion: TCGAZNF544 19q13.43 AP2A1 19q13.33 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP2A1
dbVarAP2A1
ClinVarAP2A1
1000_GenomesAP2A1 
Exome Variant ServerAP2A1
ExAC (Exome Aggregation Consortium)AP2A1 (select the gene name)
Genetic variants : HAPMAP160
Genomic Variants (DGV)AP2A1 [DGVbeta]
DECIPHERAP2A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP2A1 
Mutations
ICGC Data PortalAP2A1 
TCGA Data PortalAP2A1 
Broad Tumor PortalAP2A1
OASIS PortalAP2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP2A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP2A1
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 AP2A1
DgiDB (Drug Gene Interaction Database)AP2A1
DoCM (Curated mutations)AP2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP2A1 (select a term)
intoGenAP2A1
Cancer3DAP2A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601026   
Orphanet
MedgenAP2A1
Genetic Testing Registry AP2A1
NextProtO95782 [Medical]
TSGene160
GENETestsAP2A1
Target ValidationAP2A1
Huge Navigator AP2A1 [HugePedia]
snp3D : Map Gene to Disease160
BioCentury BCIQAP2A1
ClinGenAP2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD160
Chemical/Pharm GKB GenePA24852
Clinical trialAP2A1
Miscellaneous
canSAR (ICR)AP2A1 (select the gene name)
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP2A1
EVEXAP2A1
GoPubMedAP2A1
iHOPAP2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:23:55 CEST 2017

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