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Aliases for AP2A2 Gene

Aliases for AP2A2 Gene

  • Adaptor Related Protein Complex 2 Alpha 2 Subunit 2 3
  • Clathrin Assembly Protein Complex 2 Alpha-C Large Chain 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha C Subunit 3 4
  • Adaptor-Related Protein Complex 2, Alpha 2 Subunit 2 3
  • Adaptor Related Protein Complex 2, Alpha 2 Subunit 3 5
  • Alpha-Adaptin C; Huntingtin Interacting Protein J 2 3
  • Adaptor-Related Protein Complex 2 Subunit Alpha-2 3 4
  • Huntingtin-Interacting Protein 9 3 4
  • 100 KDa Coated Vesicle Protein C 3 4
  • Huntingtin Yeast Partner J 3 4
  • Alpha2-Adaptin 3 4
  • CLAPA2 3 4
  • ADTAB 3 4
  • HIP-9 3 4
  • HIP9 3 4
  • HYPJ 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 2 3
  • Adapter-Related Protein Complex 2 Subunit Alpha-2 3
  • Clathrin-Associated/Assembly/Adaptor Protein 2
  • Adaptor Protein Complex AP-2 Subunit Alpha-2 4
  • Huntingtin-Interacting Protein J 4
  • Adaptin, Alpha B 3
  • Alpha-Adaptin C 4
  • KIAA0899 4
  • Adaptin 2
  • Alpha B 2
  • Alpha 2 2
  • Large 2

External Ids for AP2A2 Gene

Previous HGNC Symbols for AP2A2 Gene

  • CLAPA2
  • ADTAB

Previous GeneCards Identifiers for AP2A2 Gene

  • GC11U990002
  • GC11M000181
  • GC11P000917
  • GC11P000741

Summaries for AP2A2 Gene

GeneCards Summary for AP2A2 Gene

AP2A2 (Adaptor Related Protein Complex 2 Alpha 2 Subunit) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include binding and lipid binding. An important paralog of this gene is AP2A1.

UniProtKB/Swiss-Prot for AP2A2 Gene

  • 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 involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).

Gene Wiki entry for AP2A2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP2A2 Gene

Genomics for AP2A2 Gene

Regulatory Elements for AP2A2 Gene

Promoters for AP2A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP2A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP2A2 Gene

Chromosome:
11
Start:
924,894 bp from pter
End:
1,012,245 bp from pter
Size:
87,352 bases
Orientation:
Plus strand

Genomic View for AP2A2 Gene

Genes around AP2A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP2A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2A2 Gene

Proteins for AP2A2 Gene

  • Protein details for AP2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94973-AP2A2_HUMAN
    Recommended name:
    AP-2 complex subunit alpha-2
    Protein Accession:
    O94973
    Secondary Accessions:
    • O75403
    • Q53ET1
    • Q96SI8

    Protein attributes for AP2A2 Gene

    Size:
    939 amino acids
    Molecular mass:
    103960 Da
    Quaternary structure:
    • Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Binds EPN1, EPS15, AMPH, SNAP91 and BIN1. Interacts with HIP1. Interacts with DGKD isoform 2 (By similarity). Interacts with DENND1A, DENND1B and DENND1C (By similarity). Interacts with FCHO1 and DAB2. Interacts with ATAT1; this interaction is required for efficient alpha-tubulin acetylation by ATAT1.

    Alternative splice isoforms for AP2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2A2 Gene

Proteomics data for AP2A2 Gene at MOPED

Post-translational modifications for AP2A2 Gene

  • Ubiquitination at Lys 842
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP2A2 Gene

Domains & Families for AP2A2 Gene

Suggested Antigen Peptide Sequences for AP2A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94973

UniProtKB/Swiss-Prot:

AP2A2_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP2A2: view

No data available for Gene Families for AP2A2 Gene

Function for AP2A2 Gene

Molecular function for AP2A2 Gene

UniProtKB/Swiss-Prot 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 involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).

Gene Ontology (GO) - Molecular Function for AP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
genes like me logo Genes that share ontologies with AP2A2: view
genes like me logo Genes that share phenotypes with AP2A2: view

Animal Models for AP2A2 Gene

MGI Knock Outs for AP2A2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AP2A2 Gene

Localization for AP2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP2A2 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250 UniProtKB:P17427}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP2A2 Gene COMPARTMENTS Subcellular localization image for AP2A2 gene
Compartment Confidence
cytosol 5
endosome 5
lysosome 4
plasma membrane 4
vacuole 4
nucleus 3

Gene Ontology (GO) - Cellular Components for AP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0030131 clathrin adaptor complex IEA --
genes like me logo Genes that share ontologies with AP2A2: view

Pathways & Interactions for AP2A2 Gene

genes like me logo Genes that share pathways with AP2A2: view

Gene Ontology (GO) - Biological Process for AP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007411 axon guidance TAS --
GO:0015031 protein transport IEA --
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with AP2A2: view

No data available for SIGNOR curated interactions for AP2A2 Gene

Drugs & Compounds for AP2A2 Gene

No Compound Related Data Available

Transcripts for AP2A2 Gene

Unigene Clusters for AP2A2 Gene

Adaptor-related protein complex 2, alpha 2 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP2A2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - - -
SP4:
SP5: -
SP6: -
SP7: - - -
SP8: - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - -
SP11: - -
SP12:
SP13:
SP14: - - - -
SP15:
SP16:
SP17:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -

Relevant External Links for AP2A2 Gene

GeneLoc Exon Structure for
AP2A2
ECgene alternative splicing isoforms for
AP2A2

Expression for AP2A2 Gene

mRNA expression in normal human tissues for AP2A2 Gene

Protein differential expression in normal tissues from HIPED for AP2A2 Gene

This gene is overexpressed in Brain (13.6) and Frontal cortex (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP2A2 Gene



SOURCE GeneReport for Unigene cluster for AP2A2 Gene Hs.19121

genes like me logo Genes that share expression patterns with AP2A2: view

Protein tissue co-expression partners for AP2A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AP2A2 Gene

Orthologs for AP2A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP2A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP2A2 35
  • 99.13 (n)
  • 99.78 (a)
AP2A2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP2A2 36
  • 96 (a)
OneToOne
AP2A2 35
  • 88.24 (n)
  • 96.59 (a)
dog
(Canis familiaris)
Mammalia AP2A2 35
  • 88.51 (n)
  • 97.48 (a)
AP2A2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap2a2 16
Ap2a2 36
  • 97 (a)
OneToOne
Ap2a2 35
  • 86.46 (n)
  • 96.38 (a)
oppossum
(Monodelphis domestica)
Mammalia AP2A2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP2A2 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap2a2 35
  • 86.44 (n)
  • 96.17 (a)
chicken
(Gallus gallus)
Aves AP2A2 36
  • 91 (a)
OneToOne
AP2A2 35
  • 79.46 (n)
  • 94.46 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 88 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.22438 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2a2 35
  • 77.15 (n)
  • 88.38 (a)
Str.16503 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5781 35
African malaria mosquito
(Anopheles gambiae)
Insecta AP2A_ANOGA 35
  • 67.68 (n)
  • 72.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Adaptin 35
  • 66.52 (n)
  • 70.81 (a)
alpha-Adaptin 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apa-2 36
  • 66 (a)
OneToMany
apa-2 35
  • 61.93 (n)
  • 67.72 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL3 36
  • 23 (a)
OneToMany
APL3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G22780 35
  • 50.72 (n)
  • 46.87 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03440 35
  • 54.32 (n)
  • 47.14 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apl3 35
  • 45.9 (n)
  • 38.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9573 36
  • 65 (a)
OneToMany
Species with no ortholog for AP2A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for AP2A2 Gene

ENSEMBL:
Gene Tree for AP2A2 (if available)
TreeFam:
Gene Tree for AP2A2 (if available)

Paralogs for AP2A2 Gene

Paralogs for AP2A2 Gene

genes like me logo Genes that share paralogs with AP2A2: view

Variants for AP2A2 Gene

Sequence variations from dbSNP and Humsavar for AP2A2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1128413 -- 1,010,694(+) GTGGC(C/T)ATCCT utr-variant-3-prime
rs1128419 -- 1,010,750(+) GCCCC(A/G)CCGCC utr-variant-3-prime
rs4074231 -- 978,219(-) GTGAC(C/G)GGCTG intron-variant
rs4074232 -- 977,682(+) AGGCA(C/G)GTGTG intron-variant
rs4074233 -- 977,685(+) CACGT(A/G)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP2A2 Gene

Variant ID Type Subtype PubMed ID
dgv182e199 CNV Deletion 23128226
dgv921n71 CNV Loss 21882294
nsv469923 CNV Loss 18288195
essv23843 CNV CNV 17122850
dgv946n71 CNV Loss 21882294
essv11734 CNV CNV 17122850
nsv832044 CNV Loss 17160897
esv2743878 CNV Deletion 23290073
esv2669189 CNV Deletion 23128226
dgv332e1 CNV Complex 17122850
nsv428244 CNV Loss 18775914
essv22587 CNV CNV 17122850
esv2667274 CNV Deletion 23128226
nsv896640 CNV Loss 21882294
nsv7635 CNV Insertion 18451855
nsv7636 CNV Insertion 18451855
esv989476 CNV Insertion 20482838
esv23883 CNV Loss 19812545
dgv957n71 CNV Loss 21882294
nsv896643 CNV Loss 21882294
nsv896644 CNV Loss 21882294
nsv832045 CNV Gain+Loss 17160897
esv26977 CNV Loss 19812545
nsv821153 CNV Duplication 20802225
nsv8761 CNV Gain 18304495
nsv513305 CNV Insertion 21212237
esv2743881 CNV Deletion 23290073
dgv958n71 CNV Loss 21882294
nsv513306 CNV Insertion 21212237
esv2743882 CNV Deletion 23290073
nsv7637 CNV Insertion 18451855
nsv825683 CNV Loss 20364138

Variation tolerance for AP2A2 Gene

Residual Variation Intolerance Score: 3.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP2A2 Gene

HapMap Linkage Disequilibrium report
AP2A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP2A2 Gene

Disorders for AP2A2 Gene

Relevant External Links for AP2A2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP2A2

No disorders were found for AP2A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP2A2 Gene

Publications for AP2A2 Gene

  1. Huntingtin interacts with a family of WW domain proteins. (PMID: 9700202) Faber P.W. … MacDonald M.E. (Hum. Mol. Genet. 1998) 2 3 4 67
  2. Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). (PMID: 2564002) Robinson M.S. (J. Cell Biol. 1989) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for AP2A2 Gene

Sources for AP2A2 Gene

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