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AP2A2 Gene

protein-coding   GIFtS: 61
GCID: GC11P000915

Adaptor-Related Protein Complex 2, Alpha 2 Subunit


(Previous symbols: CLAPA2, ADTAB)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 2, Alpha 2 Subunit1 2     adaptin1
ADTAB1 2 3     Alpha 21
CLAPA21 2 3     Alpha B1
Alpha-Adaptin C; Huntingtin Interacting Protein J1 2     Clathrin-Associated/Assembly/Adaptor Protein1
Adapter-Related Protein Complex 2 Subunit Alpha-22 3     large1
Clathrin Assembly Protein Complex 2 Alpha-C Large Chain2 3     Adaptin, Alpha B2
Huntingtin Yeast Partner J2 3     alpha2-adaptin2
Huntingtin-Interacting Protein 92 3     AP-2 Complex Subunit Alpha-22
Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha C Subunit2 3     Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 22
100 KDa Coated Vesicle Protein C2 3     Alpha2-adaptin3
HIP-92 3     Adaptor Protein Complex AP-2 Subunit Alpha-23
HIP92 3     Alpha-Adaptin C3
HYPJ2 3     Huntingtin-Interacting Protein J3
KIAA08993 5     

External Ids:    HGNC: 5621   Entrez Gene: 1612   Ensembl: ENSG000001830207   OMIM: 6072425   UniProtKB: O949733   

Export aliases for AP2A2 gene to outside databases

Previous GC identifers: GC11U990002 GC11M000181 GC11P000917 GC11P000741


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AP2A2 Gene:
AP2A2 (adaptor-related protein complex 2, alpha 2 subunit) is a protein-coding gene. Diseases associated with AP2A2 include wolff-parkinson-white syndrome, and gout. GO annotations related to this gene include protein transporter activity and lipid binding. An important paralog of this gene is AP2A1.

UniProtKB/Swiss-Prot: AP2A2_HUMAN, O94973
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 Wiki entry for AP2A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  NT_187656.1  NT_187681.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP2A2 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   MAZR   POU2F2   Gfi-1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP2A2 promoter sequence
   Search Chromatin IP Primers for AP2A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP2A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

AP2A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP2A2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000915:  view genomic region     (about GC identifiers)

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AP2A2_HUMAN, O94973 (See protein sequence)
Recommended Name: AP-2 complex subunit alpha-2  
Size: 939 amino acids; 103960 Da
Subunit: 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
Secondary accessions: O75403 Q53ET1 Q96SI8
Alternative splicing: 3 isoforms:  O94973-1   O94973-2   O94973-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP2A2: NX_O94973

Explore proteomics data for AP2A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys117, Lys842
  • Modification sites at PhosphoSitePlus

  • See AP2A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001229766.1  NP_036437.1  

    ENSEMBL proteins: 
     ENSP00000437228   ENSP00000436059   ENSP00000413234   ENSP00000431630   ENSP00000433498  
     ENSP00000435756   ENSP00000434563   ENSP00000435863   ENSP00000434553   ENSP00000434432  
     ENSP00000327694  
    Reactome Protein details: O94973

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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR017104 AP2_complex_asu
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR003164 Clathrin_a-adaptin_app_sub_C
     IPR013041 Coatomer/clathrin_app_Ig-like

    Graphical View of Domain Structure for InterPro Entry O94973

    ProtoNet protein and cluster: O94973

    3 Blocks protein domains:
    IPB002553 Adaptin
    IPB003164 Alpha adaptin
    IPB008152 Alpha/gamma adaptin


    UniProtKB/Swiss-Prot: AP2A2_HUMAN, O94973
    Similarity: Belongs to the adaptor complexes large subunit family


    AP2A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP2A2_HUMAN, O94973
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005488binding ----
    GO:0005515protein binding IPI16902404
    GO:0008289lipid binding IEA--
    GO:0008565protein transporter activity IEA--
         
    AP2A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AP2A2:
     Decreased viability with pacli 

         1 MGI phenotypic allele for Ap2a2 (no phenotypes)

    AP2A2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP2A2
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    miRNA
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    miRTarBase miRNAs that target AP2A2:
    hsa-mir-744-5p (MIRT037420), hsa-mir-331-3p (MIRT043335), hsa-mir-34a-5p (MIRT025343), hsa-mir-93-5p (MIRT048756), hsa-mir-92b-3p (MIRT040723), hsa-mir-877-3p (MIRT036876)

    Block miRNA regulation of human, mouse, rat AP2A2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate AP2A2:
    hsa-miR-623 hsa-miR-140-3p hsa-miR-204 hsa-miR-3674 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidAP2A2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP2A2_HUMAN, O94973: Cell membrane (By similarity). Membrane, coated pit; Peripheral membrane protein;
    Cytoplasmic side (By similarity). Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from
    sites of endocytosis seconds before internalization of the nascent CCV (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    nucleus2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005905coated pit IEA--
    GO:0016020membrane ----
    GO:0030117membrane coat ----

    AP2A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP2A2 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    Cholesterol and Sphingolipids transport Influx to the early endosome in lung normal and CF 0.35
    Retrograde neurotrophin signalling0.36
    Recycling pathway of L10.33
    2Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    3Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    4Signaling by FGFR
    Signaling by EGFR0.83
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by EGFR in Cancer0.82
    Signalling by NGF0.71
    5Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.76
    Nef Mediated CD4 Down-regulation0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    Nef Mediated CD8 Down-regulation0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AP2A2
        CTLA4 Signaling
    Endocytic Trafficking of EGFR

    4 GeneGo (Thomson Reuters) Pathways for AP2A2
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for AP2A2
        Synaptic Vesicle Pathway

    Selected Reactome Pathways for AP2A2 (see all 8)
        Retrograde neurotrophin signalling
    WNT5A-dependent internalization of FZD4
    Nef Mediated CD8 Down-regulation
    EGFR downregulation
    Nef Mediated CD4 Down-regulation


    4 Kegg Pathways  (Kegg details for AP2A2):
        Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    AP2A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP2A2
    Interactions:

        Search GeneGlobe Interaction Network for AP2A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP2A2 (O949731, 2, 3 ENSP000004132344) via UniProtKB, MINT, STRING, and/or I2D (see all 152)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157972, 3MINT-62008 I2D: score=3 
    AMPHP494183, ENSP000003486024I2D: score=3 STRING: ENSP00000348602
    AP1S1P619663, ENSP000003366664I2D: score=2 STRING: ENSP00000336666
    AP2S1P536803, ENSP000002632704I2D: score=2 STRING: ENSP00000263270
    BIN1O004993, ENSP000003167794I2D: score=2 STRING: ENSP00000316779
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006897endocytosis IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--

    AP2A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AP2A2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AP2A2 gene (2 alternative transcripts): 
    NM_001242837.1  NM_012305.3  

    Unigene Cluster for AP2A2:

    Adaptor-related protein complex 2, alpha 2 subunit
    Hs.19121  [show with all ESTs]
    Unigene Representative Sequence: NM_001242837
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000529818 ENST00000529858 ENST00000525796 ENST00000534328 ENST00000448903(uc001lst.2 uc001lss.3)
    ENST00000528815 ENST00000528195 ENST00000531548 ENST00000534485 ENST00000527024
    ENST00000526753 ENST00000530801 ENST00000524559 ENST00000527917 ENST00000524952
    ENST00000525891 ENST00000529438 ENST00000526401
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB020706.2 AF049527.1 AK001986.1 AK027640.1 AK075497.1 AK126365.1 AK223558.1 AK293763.1 
    AK299364.1 BC006155.1 

    23 DOTS entries:

    DT.80101671  DT.100801582  DT.95137588  DT.100819226  DT.100819227  DT.100037950  DT.95297753  DT.101973472 
    DT.120726319  DT.91769010  DT.100037947  DT.100802131  DT.100819231  DT.120726344  DT.95290494  DT.97771484 
    DT.97803553  DT.97820813  DT.97853825  DT.99946322  DT.120726311  DT.91670619  DT.95101303 

    Selected AceView cDNA sequences (see all 359):

    AI739490 BU500866 BM769416 BM700295 AA281673 BF732602 BU624298 AI302902 
    CA421474 BU616676 BM055222 BM831170 CB154759 AK095725 AW955227 AL553194 
    C00943 CD516174 BE856168 BQ084093 AW024238 AA393832 BI518427 BQ058732 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP2A2 (see all 17)    About this scheme

    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:                                                                                                                                                  -         

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26a · 26b
    SP1:                    -                             -           -                                 
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for AP2A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AP2A2 expression in normal human tissues (normalized intensities)      AP2A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCAGCTGC
    AP2A2 Expression
    About this image


    AP2A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    AP2A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP2A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.19121
        Custom PCR Arrays for AP2A2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AP2A2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2A2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap2a21 , 5 adaptor protein complex AP-2, alpha 2 subunit5
    adaptor-related protein complex 2, alpha 2 subunit1
    86.46(n)1
    96.38(a)1
      7 (86.94 cM)5
    117721  NM_007459.31  NP_031485.31 
     1415621805 
    chicken
    (Gallus gallus)
    Aves AP2A21 adaptor-related protein complex 2, alpha 2 subunit 79.46(n)
    94.46(a)
      423102  NM_001012896.1  NP_001012914.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    95(a)
    88(a)
    1 ↔ many
    1 ↔ many
    AAWZ02039320(574-6882)
    1(72477252-72510848)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.224382 Xenopus laevis transcribed sequence with weak similarity more 77.94(n)    48016787 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.57812 Oncorhynchus mykiss transcribed sequence with moderate more 75.1(n)    BX301262.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Adaptin1 alpha-Adaptin 66.52(n)
    70.81(a)
      33211  NM_057471.6  NP_476819.2 
    worm
    (Caenorhabditis elegans)
    Secernentea apa-21 apa-2 61.93(n)
    67.72(a)
      181163  NM_077171.6  NP_509572.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL3(YBL037W)4 Alpha-adaptin, large subunit of the clathrin associated more   --   2(147209-150286) 852243  NP_009516.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G227801 AT5G22780 50.72(n)
    46.87(a)
      832341  NM_122184.3  NP_197670.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP2A2 gene
    AP2A12  
    4 SIMAP similar genes for AP2A2 using alignment to 9 protein entries:     AP2A2_HUMAN (see all proteins):
    AP2A1    AP1G1    AP1G2    AP4E1

    AP2A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for AP2A2 (see all 1999)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1153994111,2
    C,F--923811(+) ACTGCA/C/GCACTC 2 -- us2k11WA 118
    rs1840935721,2
    --923979(+) CATGTC/TGGGCC 2 -- us2k10--------
    rs49631211,2
    C,F,A,H--924117(-) TGCAGG/CGGCTG 2 -- us2k112Minor allele frequency- C:0.35NS EA NA CSA WA 786
    rs1500442021,2
    --924186(+) TGTCTC/TGGTCT 2 -- us2k10--------
    rs1163769241,2
    F--924226(+) GATTAG/CGCATG 2 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1453943351,2
    --924374(+) TATTTC/GTTGTC 2 -- us2k10--------
    rs1178441181,2
    C,F--924503(+) ACCGTC/ACTCCA 2 -- us2k11Minor allele frequency- A:0.07NA 120
    rs1171236651,2
    C,F--924535(+) CTCCGT/CGCCTC 2 -- us2k11Minor allele frequency- C:0.09NA 120
    rs1463052321,2
    --924584(+) CTGGGA/GTCTGT 2 -- us2k10--------
    rs1874464831,2
    --924636(+) CCTGGA/GTGCGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP2A2 (924894 - 1012245 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AP2A2 (see all 32):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743878CNV Deletion23290073
    esv2743882CNV Deletion23290073
    dgv182e199CNV Deletion23128226
    esv2743881CNV Deletion23290073
    esv2669189CNV Deletion23128226
    esv2667274CNV Deletion23128226
    nsv821153CNV Duplication20802225
    nsv7637CNV Insertion18451855
    nsv513306CNV Insertion21212237
    esv989476CNV Insertion20482838

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP2A2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607242    OMIM disorders: --

    11 diseases for AP2A2:    About MalaCards
    wolff-parkinson-white syndrome    gout    huntington's disease    hiv-1
    tonsillitis    thyroiditis    cerebritis    malaria
    neuronitis    endotheliitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for AP2A2:
    Wolff-Parkinson-White syndrome

    AP2A2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for AP2A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP2A2 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with AP2A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)1, 2, 3 Faber P.W....MacDonald M.E. (Hum. Mol. Genet. 1998)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    6. Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). (PubMed id 2564002)1, 3 Robinson M.S. (J. Cell Biol. 1989)
    7. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. alphaTAT1 catalyses microtubule acetylation at clathrin-coated pits. (PubMed id 24097348)2 Montagnac G....Chavrier P. (Nature 2013)
    10. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 161 HGNC: 562 AceView: AP2A2 Ensembl:ENSG00000183020 euGenes: HUgn161
    ECgene: AP2A2 Kegg: 161 H-InvDB: AP2A2

    (According to HUGE)
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    HUGE: KIAA0899

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP2A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP2A2 gene:
    Search GeneIP for patents involving AP2A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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