Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

126

Show/Hide all (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
MIRT043335	hsa-miR-331-3p	CLASH	23622248
MIRT040723	hsa-miR-92b-3p	CLASH	23622248
MIRT037420	hsa-miR-744-5p	CLASH	23622248
MIRT036876	hsa-miR-877-3p	CLASH	23622248
MIRT441215	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441215	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT787565	hsa-miR-10a	CLIP-seq
MIRT787566	hsa-miR-10b	CLIP-seq
MIRT787567	hsa-miR-1200	CLIP-seq
MIRT787568	hsa-miR-1228	CLIP-seq
MIRT787569	hsa-miR-1238	CLIP-seq
MIRT787570	hsa-miR-1289	CLIP-seq
MIRT787571	hsa-miR-1291	CLIP-seq
MIRT787572	hsa-miR-1343	CLIP-seq
MIRT787573	hsa-miR-3173-5p	CLIP-seq
MIRT787574	hsa-miR-3198	CLIP-seq
MIRT787575	hsa-miR-3921	CLIP-seq
MIRT787576	hsa-miR-4254	CLIP-seq
MIRT787577	hsa-miR-4294	CLIP-seq
MIRT787578	hsa-miR-4308	CLIP-seq
MIRT787579	hsa-miR-4309	CLIP-seq
MIRT787580	hsa-miR-431	CLIP-seq
MIRT787581	hsa-miR-4324	CLIP-seq
MIRT787582	hsa-miR-4488	CLIP-seq
MIRT787583	hsa-miR-4653-5p	CLIP-seq
MIRT787584	hsa-miR-4663	CLIP-seq
MIRT787585	hsa-miR-4682	CLIP-seq
MIRT787586	hsa-miR-4691-5p	CLIP-seq
MIRT787587	hsa-miR-4697-5p	CLIP-seq
MIRT787588	hsa-miR-4701-5p	CLIP-seq
MIRT787589	hsa-miR-4734	CLIP-seq
MIRT787590	hsa-miR-544b	CLIP-seq
MIRT787591	hsa-miR-588	CLIP-seq
MIRT787592	hsa-miR-627	CLIP-seq
MIRT787593	hsa-miR-637	CLIP-seq
MIRT787594	hsa-miR-663b	CLIP-seq
MIRT787595	hsa-miR-924	CLIP-seq
MIRT787567	hsa-miR-1200	CLIP-seq
MIRT787569	hsa-miR-1238	CLIP-seq
MIRT787581	hsa-miR-4324	CLIP-seq
MIRT787586	hsa-miR-4691-5p	CLIP-seq
MIRT787590	hsa-miR-544b	CLIP-seq
MIRT787567	hsa-miR-1200	CLIP-seq
MIRT787569	hsa-miR-1238	CLIP-seq
MIRT2172611	hsa-miR-1470	CLIP-seq
MIRT787581	hsa-miR-4324	CLIP-seq
MIRT787584	hsa-miR-4663	CLIP-seq
MIRT2172612	hsa-miR-4667-3p	CLIP-seq
MIRT787586	hsa-miR-4691-5p	CLIP-seq
MIRT787590	hsa-miR-544b	CLIP-seq
MIRT787567	hsa-miR-1200	CLIP-seq
MIRT787569	hsa-miR-1238	CLIP-seq
MIRT2384272	hsa-miR-3153	CLIP-seq
MIRT787581	hsa-miR-4324	CLIP-seq
MIRT2384273	hsa-miR-4646-5p	CLIP-seq
MIRT787584	hsa-miR-4663	CLIP-seq
MIRT2384274	hsa-miR-4668-5p	CLIP-seq
MIRT787586	hsa-miR-4691-5p	CLIP-seq
MIRT787590	hsa-miR-544b	CLIP-seq
MIRT787567	hsa-miR-1200	CLIP-seq
MIRT787569	hsa-miR-1238	CLIP-seq
MIRT2475596	hsa-miR-1247	CLIP-seq
MIRT2475597	hsa-miR-1908	CLIP-seq
MIRT2475598	hsa-miR-3064-3p	CLIP-seq
MIRT2475599	hsa-miR-3151	CLIP-seq
MIRT2475600	hsa-miR-3175	CLIP-seq
MIRT2475601	hsa-miR-3180	CLIP-seq
MIRT2475602	hsa-miR-3180-3p	CLIP-seq
MIRT2475603	hsa-miR-3196	CLIP-seq
MIRT2475604	hsa-miR-3197	CLIP-seq
MIRT2475605	hsa-miR-3929	CLIP-seq
MIRT2475606	hsa-miR-3960	CLIP-seq
MIRT787581	hsa-miR-4324	CLIP-seq
MIRT2475607	hsa-miR-4419b	CLIP-seq
MIRT2475608	hsa-miR-4447	CLIP-seq
MIRT2475609	hsa-miR-4467	CLIP-seq
MIRT2475610	hsa-miR-4472	CLIP-seq
MIRT2475611	hsa-miR-4478	CLIP-seq
MIRT2475612	hsa-miR-455-3p	CLIP-seq
MIRT2475613	hsa-miR-4645-5p	CLIP-seq
MIRT787584	hsa-miR-4663	CLIP-seq
MIRT2475614	hsa-miR-4673	CLIP-seq
MIRT2475615	hsa-miR-4690-3p	CLIP-seq
MIRT787586	hsa-miR-4691-5p	CLIP-seq
MIRT2475616	hsa-miR-4706	CLIP-seq
MIRT2475617	hsa-miR-4749-5p	CLIP-seq
MIRT2475618	hsa-miR-491-5p	CLIP-seq
MIRT787590	hsa-miR-544b	CLIP-seq
MIRT2475619	hsa-miR-663	CLIP-seq
MIRT2475620	hsa-miR-744	CLIP-seq
MIRT787567	hsa-miR-1200	CLIP-seq
MIRT787569	hsa-miR-1238	CLIP-seq
MIRT2475596	hsa-miR-1247	CLIP-seq
MIRT2475597	hsa-miR-1908	CLIP-seq
MIRT2475598	hsa-miR-3064-3p	CLIP-seq
MIRT2475599	hsa-miR-3151	CLIP-seq
MIRT2475600	hsa-miR-3175	CLIP-seq
MIRT2475601	hsa-miR-3180	CLIP-seq
MIRT2475602	hsa-miR-3180-3p	CLIP-seq
MIRT2475603	hsa-miR-3196	CLIP-seq
MIRT2475604	hsa-miR-3197	CLIP-seq
MIRT2475605	hsa-miR-3929	CLIP-seq
MIRT2475606	hsa-miR-3960	CLIP-seq
MIRT787581	hsa-miR-4324	CLIP-seq
MIRT2475607	hsa-miR-4419b	CLIP-seq
MIRT2475608	hsa-miR-4447	CLIP-seq
MIRT2475609	hsa-miR-4467	CLIP-seq
MIRT2475610	hsa-miR-4472	CLIP-seq
MIRT2475611	hsa-miR-4478	CLIP-seq
MIRT2475612	hsa-miR-455-3p	CLIP-seq
MIRT2475613	hsa-miR-4645-5p	CLIP-seq
MIRT787584	hsa-miR-4663	CLIP-seq
MIRT2475614	hsa-miR-4673	CLIP-seq
MIRT2475615	hsa-miR-4690-3p	CLIP-seq
MIRT787586	hsa-miR-4691-5p	CLIP-seq
MIRT2475616	hsa-miR-4706	CLIP-seq
MIRT2475617	hsa-miR-4749-5p	CLIP-seq
MIRT2475618	hsa-miR-491-5p	CLIP-seq
MIRT787590	hsa-miR-544b	CLIP-seq
MIRT2475619	hsa-miR-663	CLIP-seq
MIRT2475620	hsa-miR-744	CLIP-seq

Show/Hide all (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
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	NAS	29184887
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	15941406
GO:0019900	Function	Kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030117	Component	Membrane coat	IEA
GO:0030122	Component	AP-2 adaptor complex	IBA
GO:0030122	Component	AP-2 adaptor complex	IDA	23676497
GO:0030122	Component	AP-2 adaptor complex	IEA
GO:0030122	Component	AP-2 adaptor complex	NAS	12086608
GO:0030122	Component	AP-2 adaptor complex	TAS	12121421
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0035615	Function	Clathrin adaptor activity	IBA
GO:0035615	Function	Clathrin adaptor activity	IEA
GO:0035615	Function	Clathrin adaptor activity	TAS	12121421
GO:0036020	Component	Endolysosome membrane	IEA
GO:0036020	Component	Endolysosome membrane	TAS
GO:0045334	Component	Clathrin-coated endocytic vesicle	NAS	25898166
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	IBA
GO:0072583	Process	Clathrin-dependent endocytosis	IDA	23676497
GO:0072583	Process	Clathrin-dependent endocytosis	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	IMP	22262466
GO:0072583	Process	Clathrin-dependent endocytosis	NAS	29184887
GO:0072583	Process	Clathrin-dependent endocytosis	TAS	12121421
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098884	Process	Postsynaptic neurotransmitter receptor internalization	NAS	31671891
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
607242	562	ENSG00000183020

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
LSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEE
MPPFPERESSILAKLKKKKGPSTVTDLEDTKRDRSVDVNGGPEPAPASTSAVSTPSPSAD
LLGLGAAPPAPAGPPPSSGGSGLLVDVFSDSASVVAPLAPGSEDNFARFVCKNNGVLFEN
QLLQIGLKSEFRQNLGRMFIFYGNKTSTQFLNFTPTLICSDDLQPNLNLQTKPVDPTVEG
GAQVQQVVNIECVSDFTEAPVLNIQFRYGGTFQNVSVQLPITLNKFFQPTEMASQDFFQR
WKQLSNPQQEVQNIFKAKHPMDTEVTKAKIIGFGSALLEEVDPNPANFVGAGIIHTKTTQ
IGCLLRLEPNLQAQMYRLTLRTSKEAVSQRLCELLSAQF

Sequence length

939

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	28800327, 30086706, 31748784	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	31748784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	24162737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	24162737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	27611488		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	36946148	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	29685964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32478689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27165221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	25241909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30086706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30086706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30086706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30086706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35299244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30086706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27165221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	31748784		★★★★★ ★☆☆☆☆ Found in Text Mining only

AP2A2 (adaptor related protein complex 2 subunit alpha 2)