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 RefSe... See more...

Aliases for AP2A2 Gene

Aliases for AP2A2 Gene

  • Adaptor Related Protein Complex 2 Subunit Alpha 2 2 3 5
  • HIP9 2 3 4
  • HYPJ 2 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 2 2 3
  • Clathrin Assembly Protein Complex 2 Alpha-C Large Chain 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha C Subunit 3 4
  • Alpha-Adaptin C; Huntingtin Interacting Protein J 2 3
  • Adaptor Related Protein Complex 2 Alpha 2 Subunit 2 3
  • 100 KDa Coated Vesicle Protein C 3 4
  • Huntingtin-Interacting Protein 9 3 4
  • AP-2 Complex Subunit Alpha-2 3 4
  • Huntingtin Yeast Partner J 3 4
  • Adaptin, Alpha B 2 3
  • Alpha2-Adaptin 3 4
  • KIAA0899 2 4
  • CLAPA2 3 4
  • ADTAB 3 4
  • HIP-9 3 4
  • Adapter-Related Protein Complex 2 Subunit Alpha-2 3
  • Adaptor-Related Protein Complex 2 Subunit Alpha-2 4
  • Adaptor Protein Complex AP-2 Subunit Alpha-2 4
  • Huntingtin-Interacting Protein J 4
  • Alpha-Adaptin C 4
  • DKFZP564D1864 2
  • AP2A2 5

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

Entrez Gene Summary for AP2A2 Gene

  • 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]

GeneCards Summary for AP2A2 Gene

AP2A2 (Adaptor Related Protein Complex 2 Subunit Alpha 2) is a Protein Coding gene. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include binding and lipid binding. An important paralog of this gene is AP2A1.

UniProtKB/Swiss-Prot Summary 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. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP2A2 Gene

Genomics for AP2A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AP2A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J000924 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 608.6 +1.9 1910 5 SP1 CTCF PRDM10 IKZF1 KDM1A POLR2A BACH1 JUND LARP7 ZNF143 AP2A2 POLR2L LRRC56 BRSK2 CEND1 RF00017-842 MUC6
GH11J000839 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -81.1 -81113 7.6 BRCA1 SP1 HNRNPL GATAD2A CTCF ATF7 TEAD4 PRDM10 REST TFE3 TSPAN4 POLR2L CD151 PIDD1 TMEM80 RIC8A ENSG00000255158 RPLP2 B4GALNT4 SNORA52
GH11J001039 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 18 +116.1 116146 3.5 HNRNPL ZIC2 ZSCAN4 MNT CEBPB MAX MAZ MYNN TCF7L2 CTCF MUC6 AP2A2 CD151 KRTAP5-AS1 lnc-AP2A2-2 piR-50443-056 MUC2
GH11J001047 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 17 +124.1 124107 2.8 CTCF CREB1 BHLHE40 RAD21 LINC02688 AP2A2 PIDD1 RPLP2 CEND1 SLC25A22 CD151 piR-50443-056 MUC6 lnc-AP2A2-2
GH11J000966 Enhancer 0.7 Ensembl ENCODE 18.7 +42.6 42630 3 ZNF316 MAFF MAFK SPI1 RAD21 HNF4A RXRA MAX REST HLF AP2A2 CHID1 LINC02688 POLR2L CD151 CEND1 SIGIRR RNU6-1025P MN298678-014 MUC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP2A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP2A2

Top Transcription factor binding sites by QIAGEN in the AP2A2 gene promoter:
  • Gfi-1
  • MAZR
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)

Genomic Locations for AP2A2 Gene

Genomic Locations for AP2A2 Gene
chr11:924,894-1,012,245
(GRCh38/hg38)
Size:
87,352 bases
Orientation:
Plus strand
chr11:924,894-1,012,245
(GRCh37/hg19)
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 (By similarity). Interacts with HIP1 (PubMed:11532990). Interacts with DGKD isoform 2 (By similarity). Interacts with DENND1A, DENND1B and DENND1C (By similarity). Interacts with FCHO1 and DAB2 (PubMed:22484487). Interacts with ATAT1; this interaction is required for efficient alpha-tubulin acetylation by ATAT1 (PubMed:24097348). Interacts with KIAA1107 (PubMed:29262337). Together with AP2B1 and AP2M1, it interacts with ADAM10; this interaction facilitates ADAM10 endocytosis from the plasma membrane during long-term potentiation in hippocampal neurons (PubMed:23676497). Interacts with CLN3 (via dileucine motif) (PubMed:15598649).

    Alternative splice isoforms for AP2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2A2 Gene

Post-translational modifications for AP2A2 Gene

  • Ubiquitination at Lys842
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP2A2 Gene

Domains & Families for AP2A2 Gene

Gene Families for AP2A2 Gene

Protein Domains for AP2A2 Gene

Suggested Antigen Peptide Sequences for AP2A2 Gene

GenScript: Design optimal peptide antigens:
  • Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit (AP2A2_HUMAN)

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

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. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). 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).

Phenotypes From GWAS Catalog for AP2A2 Gene

Gene Ontology (GO) - Molecular Function for AP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 15598649
GO:0008289 lipid binding IEA --
GO:0019901 protein kinase binding IEA,ISS --
GO:0019904 protein domain specific 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:
  • Ap2a2 Ap2a2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP2A2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP2A2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 4
lysosome 4
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat 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

Pathways by source for AP2A2 Gene

4 GeneGo (Thomson Reuters) pathways for AP2A2 Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
2 Qiagen pathways for AP2A2 Gene
  • CTLA4 Signaling
  • Endocytic Trafficking of EGFR

Gene Ontology (GO) - Biological Process for AP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IBA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
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

mRNA/cDNA for AP2A2 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP2A2

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

Expression for AP2A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AP2A2 Gene



Protein tissue co-expression partners for AP2A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP2A2

SOURCE GeneReport for Unigene cluster for AP2A2 Gene:

Hs.19121

mRNA Expression by UniProt/SwissProt for AP2A2 Gene:

O94973-AP2A2_HUMAN
Tissue specificity: Expressed in the brain (at protein level).

Evidence on tissue expression from TISSUES for AP2A2 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Muscle(2.6)
  • Eye(2.2)
  • Blood(2.1)
  • Skin(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with AP2A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AP2A2 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia AP2A2 30 31
  • 88.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AP2A2 30 31
  • 88.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ap2a2 30 17 31
  • 86.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ap2a2 30
  • 86.44 (n)
Oppossum
(Monodelphis domestica)
Mammalia AP2A2 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AP2A2 30 31
  • 79.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 95 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ap2a2 30
  • 77.15 (n)
Str.16503 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.22438 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5781 30
African malaria mosquito
(Anopheles gambiae)
Insecta AP2A_ANOGA 30
  • 67.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta alpha-Adaptin 30 31
  • 66.52 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea apa-2 30 31
  • 61.93 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL3 31 33
  • 23 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G22780 30
  • 50.72 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9573 31
  • 65 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03440 30
  • 54.32 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apl3 30
  • 45.9 (n)
Species where no ortholog for AP2A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AP2A2: view image

Paralogs for AP2A2 Gene

Paralogs for AP2A2 Gene

(4) SIMAP similar genes for AP2A2 Gene using alignment to 9 proteins:

  • AP2A2_HUMAN
  • E9PNC4_HUMAN
  • E9PPY8_HUMAN
  • E9PPZ3_HUMAN
  • E9PQP4_HUMAN
  • E9PR62_HUMAN
  • E9PS94_HUMAN
  • H0YDE9_HUMAN
  • H0YEG0_HUMAN
genes like me logo Genes that share paralogs with AP2A2: view

Variants for AP2A2 Gene

Additional dbSNP identifiers (rs#s) for AP2A2 Gene

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

Variant ID Type Subtype PubMed ID
dgv1013n100 CNV gain 25217958
dgv175e214 CNV gain 21293372
dgv182e199 CNV deletion 23128226
esv23883 CNV loss 19812545
esv2667274 CNV deletion 23128226
esv2669189 CNV deletion 23128226
esv26977 CNV loss 19812545
esv2743878 CNV deletion 23290073
esv2743881 CNV deletion 23290073
esv2743882 CNV deletion 23290073
esv2759794 CNV loss 17122850
esv3366969 CNV duplication 20981092
esv3381929 CNV duplication 20981092
esv3432058 CNV duplication 20981092
esv3625088 CNV gain 21293372
esv3625091 CNV loss 21293372
esv3625092 CNV gain 21293372
esv3625093 CNV loss 21293372
esv3625094 CNV loss 21293372
esv3625095 CNV gain 21293372
esv3625096 CNV loss 21293372
esv989476 CNV insertion 20482838
nsv1035180 CNV gain 25217958
nsv1077087 CNV deletion 25765185
nsv1149604 CNV insertion 26484159
nsv428244 CNV loss 18775914
nsv469923 CNV loss 18288195
nsv513305 CNV insertion 21212237
nsv513306 CNV insertion 21212237
nsv7635 CNV insertion 18451855
nsv7636 CNV insertion 18451855
nsv7637 CNV insertion 18451855
nsv821153 CNV duplication 20802225
nsv825683 CNV loss 20364138
nsv832044 CNV loss 17160897
nsv832045 CNV gain+loss 17160897
nsv8761 CNV gain 18304495
nsv951273 CNV deletion 24416366

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)

Additional Variant Information for AP2A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP2A2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP2A2 Gene

Disorders for AP2A2 Gene

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 PW … MacDonald ME (Human molecular genetics 1998) 2 3 4
  2. Endocytosis of synaptic ADAM10 in neuronal plasticity and Alzheimer's disease. (PMID: 23676497) Marcello E … Di Luca M (The Journal of clinical investigation 2013) 3 4
  3. AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. (PMID: 15598649) Kyttälä A … Luzio JP (The Journal of biological chemistry 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for AP2A2 Gene

Sources for AP2A2 Gene