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    AP2A2 adaptor related protein complex 2 subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 161, updated on 3-Dec-2024

    Summary

    Official Symbol
    AP2A2provided by HGNC
    Official Full Name
    adaptor related protein complex 2 subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:562
    See related
    Ensembl:ENSG00000183020 MIM:607242; AllianceGenome:HGNC:562
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIP9; HYPJ; ADTAB; HIP-9; CLAPA2
    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 encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]
    Expression
    Ubiquitous expression in spleen (RPKM 30.8), brain (RPKM 22.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AP2A2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (925870..1012240)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (977298..1071157)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (925870..1012240)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:842279-843022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3045 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:843356-843524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:854507-855020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:858925-859458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:859459-859992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:859993-860525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:860526-861060 Neighboring gene tetraspanin 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:863729-864262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:865863-866396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:870607-871369 Neighboring gene extensin-like Neighboring gene chitinase domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:889730-890249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:891289-891806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:891807-892326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:893960-894462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:897610-898120 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:903420-903590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3048 Neighboring gene Sharpr-MPRA regulatory region 4982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:920183-920682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:937789-938701 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:940609-941519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:942997-943671 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:944346-945020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:945021-945694 Neighboring gene Sharpr-MPRA regulatory region 620 Neighboring gene RNA, U6 small nuclear 1025, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:953983-954591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:954699-955362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:955363-956024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:969867-970368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:970369-970868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:994284-994808 Neighboring gene mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1042897-1043398 Neighboring gene uncharacterized LOC124902605 Neighboring gene long intergenic non-protein coding RNA 2688

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 Env gp41 requires the conserved membrane-proximal AP2A2 binding site in the gp41 cytoplasmic tail to evade antibody-dependent cell-mediated cytotoxicity (ADCC) via membrane-proximal endocytosis PubMed
    env Two independent motifs, a membrane proximal conserved GYxxO motif (residues 711-715) and a C-terminal dileucine motif (residues 855-856), of the HIV-1 gp41 protein mediate endocytosis through interaction with the clathrin adaptor AP-2 PubMed
    env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
    Nef nef Genome-wide shRNA screening identifies AP2A2, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
    nef Knocking down AP-2 enhances Nef activity by causing increased delivery of HLA-A2 to a prelysosomal compartment PubMed
    nef A diacidic motif DD174/175 in HIV-1 Nef is required for direct binding to AP-2 alpha and the binding is dependent on electrostatic interactions, thus leading to Nef-mediated CD4 downregulation PubMed
    nef K295, K297, K298, and R340 basic residues on the AP-2 alpha subunit are required for its binding to HIV-1 Nef. The K297 and R340 residues are required for Nef-induced CD4 downregulation and the cooperative assembly of a Nef-CD4-AP-2 complex PubMed
    Pr55(Gag) gag HIV-1 Gag binds to AP-2, and this binding is dependent on tyrosine residue 132 and valine residue 135 at the matrix-capsid junction in the Gag polyprotein PubMed
    Tat tat HIV-1 Tat enters T cells by using clathrin/AP2-mediated endocytosis followed by low-pH-induced and Hsp90-assisted endosomal translocation, which leads to cell responses that are induced from the cytosol PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37177

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to clathrin adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables disordered domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of AP-2 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of AP-2 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of AP-2 adaptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasmic side of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    AP-2 complex subunit alpha-2
    Names
    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 assembly protein complex 2 alpha-C large chain
    clathrin-associated/assembly/adaptor protein, large, alpha 2
    huntingtin yeast partner J
    huntingtin-interacting protein 9
    plasma membrane adaptor HA2/AP2 adaptin alpha C subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001242837.2NP_001229766.1  AP-2 complex subunit alpha-2 isoform 1

      See identical proteins and their annotated locations for NP_001229766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK223558, AP006477, BU735076, DB461570
      Consensus CDS
      CCDS73234.1
      UniProtKB/TrEMBL
      B7Z5S9
      Related
      ENSP00000327694.5, ENST00000332231.9
      Conserved Domains (5) summary
      smart00809
      Location:718821
      Alpha_adaptinC2; Adaptin C-terminal domain
      pfam01602
      Location:29591
      Adaptin_N; Adaptin N terminal region
      pfam02296
      Location:827935
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      pfam12717
      Location:163235
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:332355
      HEAT; HEAT repeat [structural motif]
    2. NM_012305.4NP_036437.1  AP-2 complex subunit alpha-2 isoform 2

      See identical proteins and their annotated locations for NP_036437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AP006477, BC006155, BU735076, DB461570
      Consensus CDS
      CCDS44512.1
      UniProtKB/Swiss-Prot
      O75403, O94973, Q53ET1, Q96SI8
      UniProtKB/TrEMBL
      B7Z5S9
      Related
      ENSP00000413234.3, ENST00000448903.7
      Conserved Domains (5) summary
      smart00809
      Location:717820
      Alpha_adaptinC2; Adaptin C-terminal domain
      pfam01602
      Location:29590
      Adaptin_N; Adaptin N terminal region
      pfam02296
      Location:826934
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      pfam12717
      Location:163235
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:331354
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_144509.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP006477, AP006623
      Related
      ENST00000687890.1
    2. NR_144510.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP006477, AP006623

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      925870..1012240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426480.1XP_047282436.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    2. XM_047426479.1XP_047282435.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    3. XM_011519930.4XP_011518232.1  AP-2 complex subunit alpha-2 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KPP9
      Related
      ENSP00000431630.1, ENST00000528815.5
      Conserved Domains (3) summary
      pfam01602
      Location:29591
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:163235
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:369398
      HEAT; HEAT repeat [structural motif]
    4. XM_011519929.2XP_011518231.1  AP-2 complex subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011518231.1

      UniProtKB/TrEMBL
      A0A0G2JS82
      Conserved Domains (3) summary
      smart00809
      Location:642745
      Alpha_adaptinC2; Adaptin C-terminal domain
      COG5096
      Location:1525
      COG5096; Vesicle coat complex, various subunits [Intracellular trafficking, secretion, and vesicular transport]
      pfam02296
      Location:751859
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
    5. XM_047426482.1XP_047282438.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    6. XM_047426485.1XP_047282441.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    7. XM_047426484.1XP_047282440.1  AP-2 complex subunit alpha-2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JS82
    8. XM_047426481.1XP_047282437.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187656.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      14000..74983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187681.1 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      14000..81831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      977298..1071157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367870.1XP_054223845.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    2. XM_054367869.1XP_054223844.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    3. XM_054367875.1XP_054223850.1  AP-2 complex subunit alpha-2 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KPP9
    4. XM_054367868.1XP_054223843.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    5. XM_054367872.1XP_054223847.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    6. XM_054367874.1XP_054223849.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82
    7. XM_054367873.1XP_054223848.1  AP-2 complex subunit alpha-2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JS82
    8. XM_054367871.1XP_054223846.1  AP-2 complex subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS82