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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AP2A2 Gene

protein-coding   GIFtS: 61
GCID: GC11P000915

adaptor-related protein complex 2, alpha 2 subunit


(Previous symbols: CLAPA2, ADTAB)
 Explore 5 diseases affiliated with
AP2A2 via our new
 Human Malady Compendium 
Biological research products
for AP2A2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adaptor-Related Protein Complex 2, Alpha 2 Subunit1 2     DKFZP564D18641
ADTAB1 2 3     Adaptin, Alpha B2
CLAPA21 2 3     Alpha-Adaptin C; Huntingtin Interacting Protein J2
HIP91 2 3     Alpha2-Adaptin1
HYPJ1 2 3     AP-2 Complex Subunit Alpha-22
KIAA08991 3 5     Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 22
Clathrin Assembly Protein Complex 2 Alpha-C Large Chain2 3     Alpha2-Adaptin1
Huntingtin Yeast Partner J2 3     Adapter-Related Protein Complex 2 Alpha-2 Subunit3
Huntingtin-Interacting Protein 92 3     Adaptor Protein Complex AP-2 Subunit Alpha-23
Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha C Subunit2 3     Alpha-Adaptin C3
100 KDa Coated Vesicle Protein C2 3     Huntingtin-Interacting Protein J3
HIP-92 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP2A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
1,012,240 bp from pter
Size:
87,347 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94973

  • AP2A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000437228   ENSP00000436059   ENSP00000413234   ENSP00000431630   ENSP00000431786  
     ENSP00000433498   ENSP00000435756   ENSP00000434563   ENSP00000435863   ENSP00000434553  
     ENSP00000434432   ENSP00000327694  
    Reactome Protein details: O94973
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0030117membrane coat ----
    GO:0030122AP-2 adaptor complex NAS--
    GO:0030131clathrin adaptor complex ----


    AP2A2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AP2A2 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR008152 Clathrin_a/b/g-adaptin_app_Ig
     IPR017104 AP2_complex_asu
     IPR011989 ARM-like
     IPR013038 Clathrin_a-adaptin_app_Ig-like
     IPR002553 Clathrin/coatomer_adapt-like_N

    Graphical View of Domain Structure for InterPro Entry O94973

    ProtoNet protein and cluster: O94973

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


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
    GO:0008289lipid binding IEA--
    GO:0008565protein transporter activity IEA--


    AP2A2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AP2A2:
     Decreased viability with pacli 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    Axon guidance1.00
    Recycling pathway of L10.15
    Developmental Biology0.69
    Signal transduction by L10.12
    L1CAM interactions0.39
    2Transport of MHC II:Ii complex along Golgi to TGN
    Internalization of MHC II:Ii clathrin coated vesicle0.52
    EGFR downregulation0.00
    Endocytic Trafficking of EGFR0.00
    Retrograde neurotrophin signalling0.00
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.00
    3Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    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
    4Degradation of CD4
    Degradation of CD41.00
    Degradation of CD80.75
    Nef Mediated CD4 Down-regulation0.78
    Nef Mediated CD8 Down-regulation0.75
    5Signaling by FGFR
    Signaling by EGFR0.84
    NGF signalling via TRKA from the plasma membrane0.70
    Signaling by EGFR in Cancer0.83
    Signalling by NGF0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AP2A2
        Clathrin-dependent protein traffic

    2 Downloadable PowerPoint Slides of QIAGEN 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

    5/31        Reactome Pathways for AP2A2 (see all 31)
        L1CAM interactions
    Developmental Biology
    Internalization of MHC II:Ii clathrin coated vesicle
    Transmission across Chemical Synapses
    Signaling by EGFR in Cancer


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


    AP2A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP2A2

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

    5/120 Interacting proteins for AP2A2 (O949731, 2, 3 ENSP000004132344) via UniProtKB, MINT, STRING, and/or I2D (see all 120)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157972, 3MINT-62008 I2D: score=3 
    SHC1P293533, ENSP000004013034I2D: score=4 STRING: ENSP00000401303
    EPN1Q9Y6I33, ENSP000004062094I2D: score=3 STRING: ENSP00000406209
    AP1S1P619663, ENSP000003366664I2D: score=2 STRING: ENSP00000336666
    BIN1O004993, ENSP000003167794I2D: score=2 STRING: ENSP00000316779
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport NAS--
    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP2A2
    Search CenterWatch for drugs/clinical trials and news about AP2A2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000529818 ENST00000529858 ENST00000525796 ENST00000534328 ENST00000448903(uc001lst.2 uc001lss.3)
    ENST00000528815 ENST00000528195 ENST00000529125(uc009ycq.1) ENST00000531548
    ENST00000534485 ENST00000527024 ENST00000526753 ENST00000530801 ENST00000524559
    ENST00000527007(uc001lsu.1) ENST00000527917 ENST00000524952 ENST00000525891


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    Additional cDNA 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 

    24/359 AceView cDNA sequences (see all 359):

    BM700295 AA281673 BM769416 BU500866 AI739490 NM_012305 CB159317 BM712208 
    BM460393 CB140630 BQ931594 BM670774 CB132742 BC006155 BQ064623 BM818913 
    BM669968 BM553578 BU501891 BU074132 BM928044 BM823184 BG743132 BE382449 

    GeneLoc Exon Structure

    5/17 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AP2A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCAGCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See AP2A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP2A2

    SOURCE GeneReport for Unigene cluster: Hs.19121
        SABiosciences Custom PCR Arrays for AP2A2
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2A2 gene from 8/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AP2A21 adaptor-related protein complex 2, alpha 2 subunit 80.03(n)
    95.42(a)
      423102  NM_001012896.1  NP_001012914.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    AP2A26
    --
    97(a)
    92(a)
    possible ortholog
    1 ↔ 1
    AAWZ02039320(803-6816)
    1(72478309-72510741)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.224382 Xenopus laevis transcribed sequence with weak similarity more 77.94(n)    48016787 
    zebrafish
    (Danio rerio)
    Actinopterygii ap2a11 adaptor-related protein complex 2, alpha 1 subunit 74.75(n)
    85.34(a)
      558153  XM_001922401.2  XP_001922436.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Adaptin1 Alpha-adaptin 66.96(n)
    71.29(a)
      33211  NM_057471.5  NP_476819.2 
    worm
    (Caenorhabditis elegans)
    Secernentea apa-21 Protein APA-2 61.2(n)
    67.17(a)
      181163  NM_077171.5  NP_509572.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons alpha-ADR1 AP-2 complex subunit alpha-1 48.97(n)
    42.48(a)
      832340  NM_122183.3  NP_197669.1 
    rice
    (Oryza sativa)
    Liliopsida --
    adapitin protein, putative, expressed
    36(a)
    1 → many
    3(697191-707686)


    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)
    About This Section
    Paralogs for AP2A2 gene
    AP2A12  
    5 SIMAP similar genes for AP2A2 using alignment to 10 protein entries:     AP2A2_HUMAN (see all proteins):
    DKFZp564D1864    AP2A1    AP1G1    AP1G2    AP4E1

    AP2A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1574 NCBI SNPs in AP2A2 are shown (see all 1574    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714698411,2
    C--795695(+) ACAGGG/CTGCCC 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1153994111,2
    F,--923811(+) ACTGCG/CCACTC 2 -- us2k11Minor allele frequency- C:0.03WA 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
    F,--924503(+) ACCGTC/ACTCCA 2 -- us2k11Minor allele frequency- A:0.07NA 120
    rs1171236651,2
    F,--924535(+) CTCCGT/CGCCTC 2 -- us2k11Minor allele frequency- C:0.09NA 120
    rs1463052321,2
    --924584(+) CTGGGA/GTCTGT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP2A2 (924894 - 1012240 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for AP2A2
         4 CNVs: 29886 3831 30531 4726
         2 Indels: 65834 71222

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AP2A2 for disorders           About GeneDecksing

    OMIM gene information: 607242    OMIM disorders: --

    5 diseases for AP2A2:    About MalaCards
    huntington's disease    gout    cholesterol    immunodeficiency
    malaria

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

    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)
    About This Section

    PubMed articles for AP2A2 gene, integrated from 9 sources (see all 72):
    (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. (1998)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (1998)
    6. Cloning of cDNAs encoding two related 100-kD coated v esicle proteins (alpha-adaptins). (PubMed id 2564002)1, 3 Robinson M.S. (1989)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)
    9. Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning. (PubMed id 22484487)2 Umasankar P.K.... Traub L.M. (2012)
    10. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 161 HGNC: 562 AceView: AP2A2 Ensembl:ENSG00000183020 euGenes: HUgn161
    ECgene: AP2A2 Kegg: 161 H-InvDB: AP2A2

    (According to HUGE)
    About This Section
    HUGE: KIAA0899

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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