• Gene id: 161

Gene Summary

• Gene Symbol: AP2A2   Gene   UCSC   Ensembl
• Aliases: ADTAB, CLAPA2, HIP-9, HIP9, HYPJ
• Gene name: adaptor related protein complex 2 subunit alpha 2
• Alternate names: AP-2 complex subunit alpha-2, 100 kDa coated vesicle protein C, adapter-related protein complex 2 subunit alpha-2, adaptin, alpha B, adaptor related protein complex 2 alpha 2 subunit, alpha-adaptin C; Huntingtin interacting protein J, alpha2-adaptin, clathrin as,
• Gene location: 11p15.5 (119429911: 119438506)     Exons: 5     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 607242

SNPs

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

Protein Summary

• Protein general information: O94973  
  • 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)
  • Length: 939  
  • Mass: 103960
  • Tissue specificity: Expressed in the brain (at protein level). {ECO
• Sequence:

  MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFG
  HMEAVNLLSSNRYTEKQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGE
  IPKVLVAGDTMDSVKQSAALCLLRLYRTSPDLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTS
  VSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPPPDPAVRGRLTECLETILNKAQEPPKSKKVQ
  HSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEFSHEAVKTHIETVINA
  LKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLIR
  IAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLL
  HSKFHLCSVPTRALLLSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEE
  MPPFPERESSILAKLKKKKGPSTVTDLEDTKRDRSVDVNGGPEPAPASTSAVSTPSPSADLLGLGAAPPAPAGPP
  PSSGGSGLLVDVFSDSASVVAPLAPGSEDNFARFVCKNNGVLFENQLLQIGLKSEFRQNLGRMFIFYGNKTSTQF
  LNFTPTLICSDDLQPNLNLQTKPVDPTVEGGAQVQQVVNIECVSDFTEAPVLNIQFRYGGTFQNVSVQLPITLNK
  FFQPTEMASQDFFQRWKQLSNPQQEVQNIFKAKHPMDTEVTKAKIIGFGSALLEEVDPNPANFVGAGIIHTKTTQ
  IGCLLRLEPNLQAQMYRLTLRTSKEAVSQRLCELLSAQF

• Structural information:
  • Interpro: IPR017104  IPR011989  IPR016024  IPR002553  IPR003164   IPR008152  IPR013041  IPR009028  IPR012295  
  • STRING: ENSP00000327694
• Other Databases: GeneCards:  AP2A2  Malacards:  AP2A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0019901	protein kinase binding	ISS	molecular function
GO:0030122	AP-2 adaptor complex	IBA	cellular component
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0140312	cargo adaptor activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0035615	clathrin adaptor activity	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097718	disordered domain specific binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0035615	clathrin adaptor activity	TAS	contributes to
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0030122	AP-2 adaptor complex	TAS	cellular component
GO:0072583	clathrin-dependent endocytosis	TAS	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030122	AP-2 adaptor complex	IDA	cellular component
GO:0072583	clathrin-dependent endocytosis	IDA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa04721	Synaptic vesicle cycle
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq