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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)
Microbiology & Infectious Diseases Congress
  See 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

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-adaptin2
Clathrin Coat-Associated Protein AP172 3     Sigma2-adaptin3
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 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 huntington's disease, and neuronitis, and among its related super-pathways are Retrograde neurotrophin signalling and Clathrin-dependent protein traffic. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
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:
47,341,393 bp from pter      End:
47,354,249 bp from pter
Size:
12,857 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for AP2S1 at MOPED 

Post-translational modifications:

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

  • AP2S1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP2S1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004060.2  NP_067586.1  

    ENSEMBL proteins: 
     ENSP00000263271   ENSP00000470176   ENSP00000471340   ENSP00000472080   ENSP00000263270  
     ENSP00000470235   ENSP00000470898  
    Reactome Protein details: P53680
    Human Recombinant Protein Products for AP2S1: 
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    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. 

    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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     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 domain: IPB000804 Clathrin adaptor complex

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


    AP2S1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (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


    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AP2S1 About   (see all 18)                                                                                              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
    EGFR downregulation0.30
    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 cycle0.50
    Synaptic Vesicle Pathway0.50
    4Axon guidance
    Axon guidance0.69
    Recycling pathway of L10.38
    Developmental Biology0.69
    Signal transduction by L10.32
    L1CAM interactions0.39
    5Signaling by FGFR
    Signaling by EGFR0.84
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by EGFR in Cancer0.83
    Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/28        Reactome Pathways for AP2S1 (see all 28)
        L1CAM interactions
    Developmental Biology
    Transmission across Chemical Synapses
    Signaling by EGFR in Cancer
    Retrograde neurotrophin signalling


    4         Kegg Pathways  (Kegg details for AP2S1):
        Endocytosis
    Synaptic vesicle cycle
    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Sirion Biotech, 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
    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    BU193821 AA213755 BM552968 CR606916 BE018523 BQ954311 BE047822 BM790437 
    BM704615 BM725829 CR609682 AI744835 BM855390 BE391490 BU752310 BM708203 
    AL546729 BQ221562 AI144530 BE388778 CB136411 BU684666 BM786202 W94409 

    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 <intensity>2/3
    CGAP TAG: CCGTGGTCAC
    AP2S1 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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    (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 10/28 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 AP2S16
    adaptor-related protein complex 2, sigma 1 subunit...
    92(a)
    1 ↔ 1
    AADN03016096.1(41-1287)
    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
    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, 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) 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

    10/339 SNPs in AP2S1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602242    OMIM disorders: --

    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

  • 2 diseases for AP2S1:    About MalaCards
    huntington's disease    neuronitis


    AP2S1 for disorders           About GeneDecksing


    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 41):
    (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. Mutations in AP2S1 cause familial hypocalciuric hyperc alcemia type 3. (PubMed id 23222959)1, 2 Nesbit M.A....Thakker R.V. (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. (2004)
    5. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase tha t facilitates the DNA damage response. (PubMed id 23751493)1 Poulsen S.L....Mailand N. (2013)
    6. 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)
    7. Proteomic analysis of a4b1 integrin adhesion complexes reveals a-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (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. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. 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)

    (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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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