Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
161
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 2 subunit alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP2A2
Synonyms (NCBI Gene) Gene synonyms aliases
ADTAB, CLAPA2, HIP-9, HIP9, HYPJ
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 15598649, 16902404, 22262466, 22323290, 23676497, 32296183
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane TAS
GO:0006886 Process Intracellular protein transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607242 562 ENSG00000183020
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
24162737
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 27611488 ClinVar, GWAS
Associations from Text Mining
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