AutismKB 2.0

Annotation Details for AP2A2


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Basic Information Top
Gene Symbol:AP2A2 ( ADTAB,CLAPA2,HIP9,HYPJ )
Gene Full Name: adaptor-related protein complex 2, alpha 2 subunit
Band: 11p15.5
Quick LinksEntrez ID:161; OMIM: 607242; Uniprot ID:AP2A2_HUMAN; ENSEMBL ID: ENSG00000183020; HGNC ID: 562
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0030122TAS-AP-2 adaptor complex12121421
GO:0030666TAS-endocytic vesicle membrane-
GO:0030667TAS-secretory granule membrane-
GO:0030669TAS-clathrin-coated endocytic vesicle membrane-
GO:0031410ISS-cytoplasmic vesicle-
GO:0036020TAS-endolysosome membrane-
GO:0101003TAS-ficolin-1-rich granule membrane-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005515IPI-protein binding16902404
GO:0008289IEA-lipid binding-
GO:0008565IEA-protein transporter activity-
GO:0019901ISS-protein kinase binding-
GO:0035615TAScontributes_toclathrin adaptor activity12121421
GO:0097718IEA-disordered domain specific binding-
GO ID Evidence Qualifier GO_term References
GO:0006886IEA-intracellular protein transport-
GO:0007018TAS-microtubule-based movement-
GO:0019886TAS-antigen processing and presentation of exogenous peptide antigen via MHC class II-
GO:0032802TAS-low-density lipoprotein particle receptor catabolic process-
GO:0034383TAS-low-density lipoprotein particle clearance-
GO:0043312TAS-neutrophil degranulation-
GO:0048013TAS-ephrin receptor signaling pathway-
GO:0050690TAS-regulation of defense response to virus by virus-
GO:0060071TAS-Wnt signaling pathway, planar cell polarity pathway-
GO:0061024TAS-membrane organization-
GO:0072583TAS-clathrin-dependent endocytosis12121421
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SHC1AP2A21123618617812 Affinity Capture-Western; Reconstituted Complex
SHC1AP2A21066708617812 Affinity Capture-Western; Reconstituted Complex
CLTCAP2A21066709280305 Reconstituted Complex
CLTCAP2A21076239280305 Reconstituted Complex
AMPHAP2A21066709280305 Reconstituted Complex
AMPHAP2A21067709280305 Reconstituted Complex
HTTAP2A21066709700202 Two-hybrid
HTTAP2A21093149700202 Two-hybrid
EPN1AP2A21189659723620 Affinity Capture-Western; Reconstituted Complex
EPN1AP2A21066709723620 Affinity Capture-Western; Reconstituted Complex
ATMAP2A210667010608806 Protein-peptide
ATMAP2A210696210608806 Protein-peptide
ATRAP2A210667010608806 Protein-peptide
ATRAP2A210702710608806 Protein-peptide
EPS15AP2A210837410809762 Reconstituted Complex
EPS15AP2A210667010809762 Reconstituted Complex
DAB2AP2A210667011247302 Affinity Capture-Western
DAB2AP2A210797111247302 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:101920
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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