Gene Gene information from NCBI Gene database.
Entrez ID 161
Gene name Adaptor related protein complex 2 subunit alpha 2
Gene symbol AP2A2
Synonyms (NCBI Gene)
ADTABCLAPA2HIP-9HIP9HYPJ
Chromosome 11
Chromosome location 11p15.5
Summary The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the e
miRNA miRNA information provided by mirtarbase database.
126
miRTarBase ID miRNA Experiments Reference
MIRT025343 hsa-miR-34a-5p Proteomics 21566225
MIRT025343 hsa-miR-34a-5p Proteomics 21566225
MIRT025343 hsa-miR-34a-5p Proteomics 21566225
MIRT025343 hsa-miR-34a-5p Proteomics 21566225
MIRT048756 hsa-miR-93-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15598649, 16902404, 22262466, 22323290, 23676497, 32296183, 32353859, 33060197, 33961781, 36217030
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005905 Component Clathrin-coated pit IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607242 562 ENSG00000183020
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94973
Protein name AP-2 complex subunit alpha-2 (100 kDa coated vesicle protein C) (Adaptor protein complex AP-2 subunit alpha-2) (Adaptor-related protein complex 2 subunit alpha-2) (Alpha-adaptin C) (Alpha2-adaptin) (Clathrin assembly protein complex 2 alpha-C large chain)
Protein function Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be invo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01602 Adaptin_N 29 590 Adaptin N terminal region Family
PF02883 Alpha_adaptinC2 713 821 Adaptin C-terminal domain Domain
PF02296 Alpha_adaptin_C 826 934 Alpha adaptin AP2, C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain (at protein level). {ECO:0000269|PubMed:23676497}.
Sequence
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVC
KLLFIFLLGHDIDFGHMEAVNLLSSNRYTEKQIGYLFISVLVNSNSELIRLINNAIKNDL
ASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSA
STDLQDYTYYFVPAPWLSVKLLRLLQCYPPPDPAVRGRLTECLETILNKAQEPPKSKKVQ
HSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEF
SHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIR
EEIVLKVAILAEKYAVDYTWYVDTILNLIRIAGDYVSEEVWYRVIQIVINRDDVQGYAAK
TVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRALL
LSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVAS
TDILATVLEE
MPPFPERESSILAKLKKKKGPSTVTDLEDTKRDRSVDVNGGPEPAPASTSAVSTPSPSAD
LLGLGAAPPAPAGPPPSSGGSGLLVDVFSDSASVVAPLAPGSEDNFARFVCKNNGVLFEN
QLLQIGLKSEFRQNLGRMFIFYGNKTSTQFLNFTPTLICSDDLQPNLNLQTKPVDPTVEG
GAQVQQVVNIECVSDFTEAPVLNIQFRYGGTFQNVSVQLPI
TLNKFFQPTEMASQDFFQR
WKQLSNPQQEVQNIFKAKHPMDTEVTKAKIIGFGSALLEEVDPNPANFVGAGIIHTKTTQ
IGCLLRLEPNLQAQMYRLTLRTSKEAVSQRLCEL
LSAQF
Sequence length 939
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Huntington disease
  Nef Mediated CD4 Down-regulation
Retrograde neurotrophin signalling
Nef Mediated CD8 Down-regulation
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Trafficking of GluR2-containing AMPA receptors
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Neutrophil degranulation
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs570397060 RCV005927171
Gastric cancer Uncertain significance rs200802126 RCV005939046
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 28800327, 30086706, 31748784
Asthma Associate 36946148
Atherosclerosis Associate 29685964
Atrial Fibrillation Associate 32478689
Coronary Artery Disease Associate 30086706
Dementia Associate 35299244
Diabetes Mellitus Type 2 Associate 30086706
Diffuse Neurofibrillary Tangles with Calcification Associate 31748784
Proteostasis Deficiencies Associate 31748784