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

Gene ID: 161, updated on 7-Jun-2020

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
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

Genomic context

See AP2A2 in Genome Data Viewer
Location:
11p15.5
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (925809..1012245)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (925809..1012245)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tetraspanin 4 Neighboring gene chitinase domain containing 1 Neighboring gene RNA, U6 small nuclear 1025, pseudogene Neighboring gene mucin 6, oligomeric mucus/gel-forming 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • FLJ37177

Gene Ontology Provided by GOA

Function Evidence Code Pubs
clathrin adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to clathrin adaptor activity TAS
Traceable Author Statement
more info
PubMed 
disordered domain specific binding IEA
Inferred from Electronic Annotation
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-dependent endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-dependent endocytosis TAS
Traceable Author Statement
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
low-density lipoprotein particle receptor catabolic process TAS
Traceable Author Statement
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
AP-2 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AP-2 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
AP-2 adaptor complex TAS
Traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle NAS
Non-traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
endolysosome membrane TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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_001242837.1NP_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/Swiss-Prot
    O94973
    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
    O94973
    Related
    ENSP00000413234.2, ENST00000448903.6
    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
  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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    925809..1012245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519930.3XP_011518232.1  AP-2 complex subunit alpha-2 isoform X2

    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]
  2. XM_011519929.1XP_011518231.1  AP-2 complex subunit alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_011518231.1

    Conserved Domains (5) summary
    smart00809
    Location:642745
    Alpha_adaptinC2; Adaptin C-terminal domain
    pfam01602
    Location:1515
    Adaptin_N; Adaptin N terminal region
    pfam02296
    Location:751859
    Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
    pfam12717
    Location:87159
    Cnd1; non-SMC mitotic condensation complex subunit 1
    sd00044
    Location:256279
    HEAT; HEAT repeat [structural motif]

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187656.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    14000..74988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_187681.1 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    14000..81836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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