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

AP2S1 Gene

protein-coding   GIFtS: 60
GCID: GC19M047341

adaptor-related protein complex 2, sigma 1 subunit


(Previous symbol: CLAPS2)
 Explore 5 diseases affiliated with
AP2S1 via our new
 Human Malady Compendium 
Biological research products
for AP2S1
    

(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, Sigma 1 Subunit1 2     HA2 17 KDa Subunit2 3
CLAPS21 2 3 5     AP17-DELTA2
AP172 3 5     HHC32
Adaptor Protein Complex AP-2 Subunit Sigma2 3     AP-2 Complex Subunit Sigma2
Clathrin Assembly Protein 2 Small Chain2 3     Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD)2
Clathrin Coat Assembly Protein AP172 3     Sigma2-Adaptin1
Clathrin Coat-Associated Protein AP172 3     Sigma2-Adaptin1
Plasma Membrane Adaptor AP-2 17 KDa Protein2 3     Adapter-Related Protein Complex 2 Sigma Subunit3

External Ids:    HGNC: 5651   Entrez Gene: 11752   Ensembl: ENSG000000427537   OMIM: 6022425   UniProtKB: P536803   

Export aliases for AP2S1 gene to outside databases

Previous GC identifers: GC19M047985 GC19M047732 GC19M052017 GC19M052033 GC19M043766


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

Entrez Gene summary for AP2S1:
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma
membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small
chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AP2S1_HUMAN, P53680
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 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 AP2S1


(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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AP2S1 gene promoter:
         ER-alpha   Sox5   CUTL1   CBF-C   POU2F1   CBF-B   POU2F1a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AP2S1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AP2S1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP2S1


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

Entrez Gene cytogenetic band: 19q13.2-q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.2-q13.3

AP2S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP2S1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M047341:  view genomic region     (about GC identifiers)

Start:
47,341,423 bp from pter      End:
47,354,203 bp from pter
Size:
12,781 bases      Orientation:
minus 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: AP2S1_HUMAN, P53680 (See protein sequence)
Recommended Name: AP-2 complex subunit sigma  
Size: 142 amino acids; 17018 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)
Subcellular location: Cell membrane. 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 (By similarity)
Secondary accessions: B2R4Z4 O75977 Q6PK67
Alternative splicing: 2 isoforms:  P53680-1   P53680-2   

Explore the universe of human proteins at neXtProt for AP2S1: NX_P53680

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P53680

  • AP2S1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004060.2  NP_067586.1  

    ENSEMBL proteins: 
     ENSP00000263270   ENSP00000263271  
    Reactome Protein details: P53680
    Human Recombinant Protein Products: 
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    Uscn Proteins for AP2S1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0030122AP-2 adaptor complex TAS10753805
    GO:0030666endocytic vesicle membrane TAS--
    GO:0030669clathrin-coated endocytic vesicle membrane TAS--


    AP2S1 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

    AP2S1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000804 Clathrin_sm-chain_CS
     IPR022775 AP_mu_sigma_su
     IPR027156 APS2
     IPR016635 AP_complex_ssu
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry P53680

    ProtoNet protein and cluster: P53680

    1 Blocks protein family: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP2S1_HUMAN, P53680
    Similarity: Belongs to the adaptor complexes small 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: AP2S1_HUMAN, P53680
    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 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS9040778
    GO:0008565protein transporter activity NAS10753805


    AP2S1 for ontologies           About GeneDecksing



    (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 AP2S1
        Clathrin-dependent protein traffic

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AP2S1
        CTLA4 Signaling
    Endocytic Trafficking of EGFR

    4 GeneGo (Thomson Reuters) Pathways for AP2S1
        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 AP2S1 
        Synaptic Vesicle Pathway

    5/31        Reactome Pathways for AP2S1 (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 AP2S1):
        Endocytosis
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    AP2S1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP2S1

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

    5/109 Interacting proteins for AP2S1 (P536802, 3 ENSP000002632704) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629932, 3, ENSP000003390074MINT-61547 I2D: score=2 STRING: ENSP00000339007
    AP2B1P630103, ENSP000003144144I2D: score=4 STRING: ENSP00000314414
    AP2A2O949733, ENSP000004132344I2D: score=2 STRING: ENSP00000413234
    CLTCQ006103, ENSP000002691224I2D: score=1 STRING: ENSP00000269122
    EPS15P425663, ENSP000003607984I2D: score=1 STRING: ENSP00000360798
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--


    AP2S1 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 AP2S1
    Search CenterWatch for drugs/clinical trials and news about AP2S1 

    (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 AP2S1 gene (2 alternative transcripts): 
    NM_004069.3  NM_021575.2  

    Unigene Cluster for AP2S1:

    Adaptor-related protein complex 2, sigma 1 subunit
    Hs.119591  [show with all ESTs]
    Unigene Representative Sequence: BM809524
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263270(uc002pft.1) ENST00000352203(uc002pfu.1)

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate AP2S1:
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    Inhib. RNA
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    Additional cDNA sequence: 

    AJ010148.1 AJ010149.1 AK312003.1 BC006337.2 X97074.1 

    18 DOTS entries:

    DT.100653748  DT.118673  DT.91753203  DT.91753202  DT.121504845  DT.121504834  DT.121504780  DT.121504785 
    DT.100653750  DT.100653749  DT.100044845  DT.91753206  DT.91753211  DT.95093082  DT.95153672  DT.95153674 
    DT.100889484  DT.91753212 

    24/405 AceView cDNA sequences (see all 405):

    BQ054067 AA025950 CR606916 BM790437 BE646192 BM855390 AI144530 AI207776 
    AA358637 BQ221562 AI751728 BM704615 AA009543 BQ889006 BQ954311 BQ001225 
    BM704680 AJ713543 W94409 BE303066 CN480869 AL546729 BC006337 BM450844 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for AP2S1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
    SP1:                                      -     -           -     -                                                         
    SP2:                                      -     -           -     -                                                         
    SP3:                                      -     -           -                                                               
    SP4:                                            -           -     -                                                         
    SP5:                                                        -     -                                                         


    ECgene alternative splicing isoforms for AP2S1

    (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

    AP2S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGTGGTCAC

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

    About this image
    See AP2S1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP2S1

    SOURCE GeneReport for Unigene cluster: Hs.119591
        SABiosciences Custom PCR Arrays for AP2S1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2S1

    (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 AP2S1 gene from 9/38 species (see all 38)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AP2S16
    --
    90(a)
    1 ↔ 1
    Un(63228914-63229907)
    lizard
    (Anolis carolinensis)
    Reptilia AP2S16
    --
    99(a)
    1 ↔ 1
    GL343566.1(280988-282520)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.240432 Xenopus laevis transcribed sequence with strong similarity more 84.92(n)    CB197413.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.283902 Danio rerio cDNA clone MGC65827 IMAGE6794145, complete more 85.35(n)    BC058042.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-2&sgr;3
    AP-2sigma1
    non-selective vesicle coating3
    AP-2sigma1
    91(a)3
    83.8(n)1
    95.77(a)1
      93D23
    425251  NM_142704.21  NP_650961.21 
    worm
    (Caenorhabditis elegans)
    Secernentea aps-21 , 3 Clathrin coat assembly protein3
    Protein APS-21
    93(a)3
    77.7(n)1
    95.07(a)1
      X(4493392-4494415)3
    1840911  NM_076366.41  NP_508767.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS2(YJR058C)4
    APS21
    Small subunit of the clathrin-associated adaptor complex more4
    Aps2p1
    55.32(n)1
    50.35(a)1
      10(545175-544732)4
    8535211, 4  NP_012592.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G478301 AP-2 complex subunit sigma 61.74(n)
    61.27(a)
      841199  NM_103681.4  NP_175219.1 
    rice
    (Oryza sativa)
    Liliopsida AF443601.12   -- 73.5(n)    AF443601.1 


    ENSEMBL Gene Tree for AP2S1 (if available)
    TreeFam Gene Tree for AP2S1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AP2S1 gene
    AP1S32  AP4S12  AP1S12  AP1S22  
    8 SIMAP similar genes for AP2S1 using alignment to 5 protein entries:     AP2S1_HUMAN (see all proteins):
    DKFZp779P0659    AP1S1    AP1S2    AP1S3    AP4S1    AP3S1
    C15orf38-AP3S2    AP3S2

    AP2S1 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

    10/263 NCBI SNPs in AP2S1 are shown (see all 263    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441052381,2
    --47340927(+) AAAAAA/GAAAAA 2 -- ds50010--------
    rs768657341,2
    C,--47341110(+) CCCAGA/GCTTAT 2 -- ds50013Minor allele frequency- G:0.09CSA WA NA 239
    rs1924572681,2
    --47341138(+) GTAAGC/GTAAGA 2 -- ds50010--------
    rs1837945031,2
    --47341275(+) GGTGAA/GCAGGA 2 -- ds50010--------
    rs1422185241,2
    --47341417(+) AAAGAC/TGGCAA 2 -- ds50010--------
    rs1512581951,2
    --47341420(+) GACGGC/TAAGGC 2 -- ds50010--------
    rs1864744461,2
    --47341465(+) CACAGA/GCGCTT 2 -- ut310--------
    rs1175778101,2
    --47341467(+) CAGACG/ACTTAT 2 -- ut311Minor allele frequency- A:0.01EA 120
    rs176531,2
    C,F,A,H,--47341494(-) GTAACC/TGTGCC 2 -- ut3119Minor allele frequency- T:0.16MN NA EA NS WA CSA 1344
    rs22922031,2
    C,F,H,--47341501(-) GTCCCG/AAGTAA 2 -- ut31 ese34Minor allele frequency- A:0.01NS EA 418

    HapMap Linkage Disequilibrium report for AP2S1 (47341423 - 47354203 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AP2S1
         2 CNVs: 5104 5957

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP2S1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP2S1

    (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

    AP2S1 for disorders           About GeneDecksing

    OMIM gene information: 602242    OMIM disorders: --

    5 diseases for AP2S1:    About MalaCards
    huntington's disease    cholesterol    immunodeficiency    malaria
    neuronitis


    Export disorders for AP2S1 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 AP2S1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with AP2S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17. (PubMed id 9767099)1, 2, 3, 9 Holzmann K....Sauermann G. (1998)
    2. Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3. (PubMed id 9040778)1, 2, 3, 9 Winterpacht A.... Zabel B. (1996)
    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. Mutations in AP2S1 cause familial hypocalciuric hyperc alcemia type 3. (PubMed id 23222959)1 Nesbit M.A....Thakker R.V. (2013)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. HIV-1 envelope glycoprotein biosynthesis, trafficking, and incorporation. (PubMed id 21762802)1 Checkley M.A....Freed E.O. (2011)

    (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: 1175 HGNC: 565 AceView: AP2S1 Ensembl:ENSG00000042753 euGenes: HUgn1175
    ECgene: AP2S1 Kegg: 1175 H-InvDB: AP2S1

    (According to HUGE)
    About This Section
      --

    (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 AP2S1 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 AP2S1 gene:
    Search GeneIP for patents involving AP2S1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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