Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



AP2S1 Gene

protein-coding   GIFtS: 61
GCID: GC19M047341

Adaptor-Related Protein Complex 2, Sigma 1 Subunit

(Previous name: hypocalciuric hypercalcemia 3 (Oklahoma type))
(Previous symbols: CLAPS2, HHC3)
  See AP2S1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Adaptor-Related Protein Complex 2, Sigma 1 Subunit1 2     Plasma Membrane Adaptor AP-2 17 KDa Protein2 3
CLAPS21 2 3 5     HA2 17 KDa Subunit2 3
HHC31 2 5     AP17-DELTA2
AP172 3 5     FBH32
Hypocalciuric Hypercalcemia 3 (Oklahoma Type)1 2     FBHOk2
Adapter-Related Protein Complex 2 Subunit Sigma2 3     AP-2 Complex Subunit Sigma2
Adaptor Protein Complex AP-2 Subunit Sigma2 3     Clathrin Assembly Protein 2 Small Chain2
Clathrin Assembly Protein 2 Sigma Small Chain2 3     Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD)2
Clathrin Coat Assembly Protein AP172 3     sigma2-adaptin2
Clathrin Coat-Associated Protein AP172 3     Sigma2-adaptin3

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

TryGeneCards Plus

Entrez Gene summary for AP2S1 Gene:
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)

GeneCards Summary for AP2S1 Gene:
AP2S1 (adaptor-related protein complex 2, sigma 1 subunit) is a protein-coding gene. Diseases associated with AP2S1 include familial hypocalciuric hypercalcemia type 3, and familial hypocalciuric hypercalcemia. GO annotations related to this gene include protein transporter activity and transporter activity. An important paralog of this gene is AP1S3.

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). May also play a role in
extracellular calcium homeostasis

Gene Wiki entry for AP2S1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for AP2S1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
47,341,393 bp from pter      End:
47,354,249 bp from pter
Size:
12,857 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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)
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

Explore proteomics data for AP2S1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys18, Lys28, Lys45, Lys56, Lys130, Lys133
  • Modification sites at PhosphoSitePlus

  • See AP2S1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000263271   ENSP00000470176   ENSP00000471340   ENSP00000472080   ENSP00000263270  
     ENSP00000470235   ENSP00000470898  
    Reactome Protein details: P53680

    AP2S1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AP2S1
    OriGene Protein Over-expression Lysate for AP2S1
    OriGene MassSpec for AP2S1
    OriGene Custom Protein Services for AP2S1
    GenScript Custom Purified and Recombinant Proteins Services for AP2S1
    Novus Biologicals AP2S1 Protein
    Novus Biologicals AP2S1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for AP2S1 

    AP2S1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for AP2S1
    OriGene Custom Antibody Services for AP2S1
    Novus Biologicals AP2S1 Antibodies
    Abcam antibodies for AP2S1
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for AP2S1
    LSBio Antibodies in human, mouse, rat for AP2S1

    AP2S1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AP2S1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AP2S1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for AP2S1 


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

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR000804 Clathrin_sm-chain_CS
     IPR022775 AP_mu_sigma_su
     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 domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP2S1_HUMAN, P53680
    Similarity: Belongs to the adaptor complexes small subunit family


    Find genes that share domains with AP2S1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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). May also play a role in
    extracellular calcium homeostasis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS9040778
    GO:0008565protein transporter activity NAS10753805
         
    Find genes that share ontologies with AP2S1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP2S1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AP2S1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP2S1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP2S1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AP2S1:
    hsa-mir-1 (MIRT023500), hsa-mir-30a-5p (MIRT028446)

    Block miRNA regulation of human, mouse, rat AP2S1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AP2S1:
    hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidAP2S1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AP2S1
    Predesigned siRNA for gene silencing in human, mouse, rat AP2S1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AP2S1

    Clone
    Products:
         
    OriGene clones in human, mouse for AP2S1 (see all 13)
    OriGene ORF clones in mouse, rat for AP2S1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AP2S1 (NM_021575)
    Sino Biological Human cDNA Clone for AP2S1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP2S1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP2S1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AP2S1
    Browse ESI BIO Cell Lines and PureStem Progenitors for AP2S1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2S1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12172) for AP2S1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    AP2S1_HUMAN, P53680: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    golgi apparatus2
    mitochondrion2
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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 TAS10753805
    GO:0030666endocytic vesicle membrane TAS--

    Find genes that share ontologies with AP2S1           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for AP2S1 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


    Find genes that share SuperPaths with AP2S1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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


    Selected Reactome Pathways for AP2S1 (see all 7)
        Recycling pathway of L1
    Retrograde neurotrophin signalling
    WNT5A-dependent internalization of FZD4
    Nef Mediated CD8 Down-regulation
    MHC class II antigen presentation


    4 Kegg Pathways  (Kegg details for AP2S1):
        Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP2S1
    Interactions:

        Search GeneGlobe Interaction Network for AP2S1

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

    Selected Interacting proteins for AP2S1 (P536802, 3 ENSP000002632704) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629932, 3, ENSP000003390074MINT-61547 I2D: score=2 STRING: ENSP00000339007
    AP2B1P630103, ENSP000003144144I2D: score=4 STRING: ENSP00000314414
    PUF60Q9UHX13, ENSP000003220164I2D: score=3 STRING: ENSP00000322016
    AP2A2O949733, ENSP000004132344I2D: score=2 STRING: ENSP00000413234
    CLTCQ006103, ENSP000002691224I2D: score=1 STRING: ENSP00000269122
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0006897endocytosis IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with AP2S1           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AP2S1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352203(uc002pfu.1) ENST00000601498 ENST00000599990 ENST00000593442
    ENST00000263270(uc002pft.1) ENST00000600964 ENST00000597020 ENST00000598027
    ENST00000601649 ENST00000597421
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AP2S1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AP2S1:
    hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidAP2S1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AP2S1
    Predesigned siRNA for gene silencing in human, mouse, rat AP2S1
    Clone
    Products:
         
    OriGene clones in human, mouse for AP2S1 (see all 13)
    OriGene ORF clones in mouse, rat for AP2S1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AP2S1 (NM_021575)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP2S1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP2S1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AP2S1
    OriGene qSTAR qPCR primer pairs in human, mouse for AP2S1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP2S1
      QuantiTect SYBR Green Assays in human, mouse, rat AP2S1
      QuantiFast Probe-based Assays in human, mouse, rat AP2S1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12172) for AP2S1 

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 405):

    CR609682 BM785241 AA284593 BQ221562 CA444176 AW084250 BU684666 AI207776 
    CB155465 BM704680 CR610430 BM708203 BQ877961 BM450844 BM785172 AL546729 
    BM704615 AI086508 BM786202 BM790437 AA213755 BE388778 BU193821 BE047822 

    GeneLoc Exon Structure

    Selected 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™, 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

    TryGeneCards Plus

    AP2S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGTGGTCAC
    AP2S1 Expression
    About this image

    AP2S1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP2S1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.119591
        Custom PCR Arrays for AP2S1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AP2S1
    OriGene qSTAR qPCR primer pairs in human, mouse for AP2S1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP2S1
    QuantiTect SYBR Green Assays in human, mouse, rat AP2S1
    QuantiFast Probe-based Assays in human, mouse, rat AP2S1
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2S1 gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap2s11 , 5 adaptor-related protein complex 2, sigma 1 subunit1, 5 91.55(n)1
    100(a)1
      7 (9.15 cM)5
    2329101  NM_198613.21  NP_941015.21 
     167384105 
    chicken
    (Gallus gallus)
    Aves LOC1008595551 AP-2 complex subunit sigma-like 85.32(n)
    99.08(a)
      100859555  XM_003643570.2  XP_003643618.2 
    lizard
    (Anolis carolinensis)
    Reptilia AP2S16
    adaptor-related protein complex 2, sigma 1 subunit...
    100(a)
    1 ↔ 1
    GL343566.1(274299-282520)
    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
    aps-21
    93(a)3
    77.7(n)1
    95.07(a)1
      X(4493392-4494415)3
    1840911  NM_076366.51  NP_508767.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS2(YJR058C)4
    APS21
    Small subunit of the clathrin-associated adaptor complex more4
    APS21
    55.32(n)1
    50.35(a)1
      10(545175-544732)4
    8535211, 4  NP_012592.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G478301 AT1G47830 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

    TryGeneCards Plus
    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
    AP3S2    C15orf38-AP3S2

    Find genes that share paralogs with AP2S1           About GenesLikeMe



    (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

    TryGeneCards Plus

    Selected SNPs for AP2S1 (see all 339)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695724
    Hypocalciuric hypercalcemia, familial 3 (HHC3)4--see VAR_0695722 R L mis40--------
    VAR_0695704
    Hypocalciuric hypercalcemia, familial 3 (HHC3)4--see VAR_0695702 R C mis40--------
    VAR_0695714
    Hypocalciuric hypercalcemia, familial 3 (HHC3)4--see VAR_0695712 R H mis40--------
    rs105696421,2
    C--43777720(+) CAAGA-/ACTCCTG 2 -- int10--------
    rs2016180661,2
    C--43777721(-) CAGGAG/TTTCTT 2 -- int10--------
    rs24321351,2
    --43780234(+) attgcC/Ttgaac 2 -- us2k10--------
    rs38332441,2
    C--47343098(+) AGTCAG/-GGAGG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1133011111,2
    F--47348184(+) TGAAAC/ACCCAT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1128171441,2
    F--47352348(+) GCCTCC/TGCCTC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1441052381,2
    C--47526745(+) AAAAAA/GAAAAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for AP2S1 (47341393 - 47354249 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AP2S1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv138519CNV Loss16902084
    nsv833850CNV Loss17160897
    nsv912190CNV Gain21882294

    Human Gene Mutation Database (HGMD): AP2S1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

    TryGeneCards Plus
    OMIM gene information: 602242   
    OMIM disorders: 600740  
    UniProtKB/Swiss-Prot: AP2S1_HUMAN, P53680
  • Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]: A form of hypocalciuric hypercalcemia, a
    disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of
    penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is
    associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating
    parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic
    and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for AP2S1:    
    About MalaCards
    familial hypocalciuric hypercalcemia type 3    familial hypocalciuric hypercalcemia    hypercalcemia


    Find genes that share disorders with AP2S1           About GenesLikeMe


    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

    TryGeneCards Plus

    PubMed articles for AP2S1 gene, integrated from 10 sources (see all 42):
    (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. (Gene 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. (Cytogenet. Cell Genet. 1996)
    3. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (PubMed id 23222959)1, 2, 3 Nesbit M.A....Thakker R.V. (Nat. Genet. 2013)
    4. 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)
    5. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase that facilitates the DNA damage response. (PubMed id 23751493)1 Poulsen S.L....Mailand N. (J. Cell Biol. 2013)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Proteomic analysis of I+4I^1 integrin adhesion complexes reveals I+-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (Proteomics 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 1175 HGNC: 565 AceView: AP2S1 Ensembl:ENSG00000042753 euGenes: HUgn1175
    ECgene: AP2S1 Kegg: 1175 H-InvDB: AP2S1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for AP2S1   OriGene RNAi products in human, mouse, rat for AP2S1  
     OriGene qPCR primer pairs and template standards for AP2S1   OriGene Protein Over-expression Lysate for AP2S1  
     OriGene MassSpec something-or-other for AP2S1   OriGene clones in human, mouse for AP2S1  
     OriGene qSTAR qPCR primer pairs in human, mouse for AP2S1   OriGene Purified Protein for AP2S1  
     OriGene ORF clones in mouse, rat for AP2S1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AP2S1   OriGene Custom Protein Services for AP2S1  

     
     
     Block miRNA regulation of human, mouse, rat AP2S1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing AP2S1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP2S1 Predesigned siRNA for gene silencing in human, mouse, rat AP2S1
     QuantiFast Probe-based Assays in human, mouse, rat AP2S1 QuantiTect SYBR Green Assays in human, mouse, rat AP2S1
     Custom PCR Arrays for AP2S1 Search Chromatin IP Primers for AP2S1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP2S1  Search GeneGlobe Interaction Network for AP2S1
     Regulatory tfbs in AP2S1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for AP2S1 GenScript cDNA clones with any tag delivered in your preferred vector for AP2S1
     GenScript Custom Assay Services for AP2S1 GenScript Custom overexpressing Cell Line Services for AP2S1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for AP2S1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for AP2S1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     AP2S1 antibodies
     AP2S1 proteins
     AP2S1 lysates
     Antibodies for AP2S1
     See all of Abcam's Antibodies, Kits and Proteins for AP2S1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for AP2S1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2S1
     SwitchGear 3'UTR luciferase reporter plasmids for AP2S1
     SwitchGear Promoter luciferase reporter plasmids for AP2S1
     Search ThermoFisher Antibodies for AP2S1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP2S1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP2S1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AP2S1
     LSBio Antibodies in human, mouse, rat for AP2S1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for AP2S1
      Search eBioscience for proteins for AP2S1
      Search eBioscience for elisas for AP2S1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AP2S1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4