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AP1S2 Gene

protein-coding   GIFtS: 63
GCID: GC0XM015843

Adaptor-Related Protein Complex 1, Sigma 2 Subunit

(Previous names: mental retardation, X-linked 59, mental retardation, X-linked,...)
(Previous symbols: MRX59, MRXS5, PGS)
  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)
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Aliases
Adaptor-Related Protein Complex 1, Sigma 2 Subunit1 2     MRXSF2 5
MRX591 2 5     Mental Retardation, X-Linked 591
MRXS51 2     MGC:19022
PGS1 2     SIGMA1B2
Mental Retardation, X-Linked, Syndromic 51 2     Adapter-Related Protein Complex 1 Sigma-1B Subunit2
Pettigrew X-Linked Mental Retardation Syndrome1 2     Adaptor Protein Complex AP-1 Sigma-1B Subunit2
Adapter-Related Protein Complex 1 Subunit Sigma-1B2 3     AP-1 Complex Subunit Sigma-22
Adaptor Protein Complex AP-1 Subunit Sigma-1B2 3     Clathrin Adaptor Complex AP1 Sigma 1B Subunit2
Clathrin Assembly Protein Complex 1 Sigma-1B Small Chain2 3     sigma1B-adaptin2
Golgi Adaptor HA1/AP1 Adaptin Sigma-1B Subunit2 3     Sigma1B-adaptin3
Sigma 1B Subunit Of AP-1 Clathrin2 3     Sigma-Adaptin 1B3
MRXS212 5     

External Ids:    HGNC: 5601   Entrez Gene: 89052   Ensembl: ENSG000001822877   OMIM: 3006295   UniProtKB: P563773   

Export aliases for AP1S2 gene to outside databases

Previous GC identifers: GC0XM015565 GC0XM014669 GC0XM015045 GC0XM015206 GC0XM015207 GC0XM015603 GC0XM015753 GC0XM013597


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AP1S2 Gene:
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where
it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the
cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium,
and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and
is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jan 2013)

GeneCards Summary for AP1S2 Gene:
AP1S2 (adaptor-related protein complex 1, sigma 2 subunit) is a protein-coding gene. Diseases associated with AP1S2 include intellectual deficit, x-linked - dandy-walker malformation - basal ganglia disease - seizures, and mental retardation, x-linked syndromic, fried type. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S3.

UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377
Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin
to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

Gene Wiki entry for AP1S2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP1S2 gene promoter:
         Tal-1   Pbx1a   Nkx2-2   Lmo2   IRF-1   NF-AT   E47   FAC1   Sox9   NF-AT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP1S2 promoter sequence
   Search Chromatin IP Primers for AP1S2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP1S2


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

AP1S2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1S2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM015843:  view genomic region     (about GC identifiers)

Start:
15,843,929 bp from pter      End:
15,873,100 bp from pter
Size:
29,172 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377 (See protein sequence)
Recommended Name: AP-1 complex subunit sigma-2  
Size: 157 amino acids; 18615 Da
Subunit: Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit
AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin
(sigma-type subunit AP1S1 or AP1S2 or AP1S3). Binds to MUC1
Sequence caution: Sequence=AAG44595.1; Type=Erroneous initiation;
Secondary accessions: B4DSU4 O95326 Q9H2N6
Alternative splicing: 2 isoforms:  P56377-1   P56377-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP1S2: NX_P56377

Explore proteomics data for AP1S2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys17
  • Modification sites at PhosphoSitePlus

  • See AP1S2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001259000.1  NP_003907.3  

    ENSEMBL proteins: 
     ENSP00000328789   ENSP00000403498   ENSP00000369645   ENSP00000389474   ENSP00000444957  
     ENSP00000414714  
    Reactome Protein details: P56377

    AP1S2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P56377

    ProtoNet protein and cluster: P56377

    1 Blocks protein domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377
    Similarity: Belongs to the adaptor complexes small subunit family


    AP1S2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: AP1S2_HUMAN, P56377
    Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
    late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin
    to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008565protein transporter activity IEA--
         
    AP1S2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP1S2
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    miRNA
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    miRTarBase miRNAs that target AP1S2:
    hsa-mir-192-5p (MIRT026570), hsa-mir-204-5p (MIRT005816), hsa-mir-215-5p (MIRT024614)

    Block miRNA regulation of human, mouse, rat AP1S2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP1S2 (see all 28):
    hsa-miR-623 hsa-miR-34b* hsa-miR-4311 hsa-miR-3938 hsa-miR-429 hsa-miR-139-5p hsa-miR-449a hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidAP1S2 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for AP1S2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP1S2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP1S2_HUMAN, P56377: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated
    vesicles located at the Golgi complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    lysosome4
    vacuole4
    extracellular2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0005905coated pit IEA--
    GO:0030117membrane coat ----

    AP1S2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP1S2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    3Nef-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 downregulation of MHC class I complex cell surface expression0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    4HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    5Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AP1S2
        CTLA4 Signaling

    1 GeneGo (Thomson Reuters) Pathway for AP1S2
        Transport Clathrin-coated vesicle cycle


    4 Reactome Pathways for AP1S2
        Golgi Associated Vesicle Biogenesis
    Lysosome Vesicle Biogenesis
    Nef mediated downregulation of MHC class I complex cell surface expression
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for AP1S2):
        Lysosome


    AP1S2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP1S2
    Interactions:

        Search GeneGlobe Interaction Network for AP1S2

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

    Selected Interacting proteins for AP1S2 (P563773 ENSP000003287894) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2B1P630103, ENSP000003144144I2D: score=6 STRING: ENSP00000314414
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=3 STRING: ENSP00000221413
    CLTCQ006103, ENSP000002691224I2D: score=2 STRING: ENSP00000269122
    MAPK1P284823, ENSP000002158324I2D: score=2 STRING: ENSP00000215832
    AP1S1P619663, ENSP000003366664I2D: score=1 STRING: ENSP00000336666
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0015031protein transport ----
    GO:0016032viral process TAS--

    AP1S2 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for AP1S2



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AP1S2 gene (2 alternative transcripts): 
    NM_001272071.1  NM_003916.4  

    Unigene Cluster for AP1S2:

    Adaptor-related protein complex 1, sigma 2 subunit
    Hs.121592  [show with all ESTs]
    Unigene Representative Sequence: BX647483
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329235(uc004cxh.3 uc004cxi.3 uc010nex.3 uc011miu.1)
    ENST00000452376 ENST00000380291 ENST00000479184 ENST00000450644 ENST00000545766(uc011mis.1)
    ENST00000421527(uc011mit.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat AP1S2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP1S2 (see all 28):
    hsa-miR-623 hsa-miR-34b* hsa-miR-4311 hsa-miR-3938 hsa-miR-429 hsa-miR-139-5p hsa-miR-449a hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidAP1S2 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: AP1S2 (NM_003916)
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      QuantiFast Probe-based Assays in human, mouse, rat AP1S2

    Additional mRNA sequence: 

    AB015320.1 AF087876.1 AF091077.1 AK125525.1 AK130075.1 AK296135.1 AK299921.1 AK302908.1 
    AK312594.1 BC001117.2 BC071867.1 BT006738.1 BX537780.1 BX647483.1 

    Selected DOTS entries (see all 25):

    DT.95113255  DT.118261  DT.95197258  DT.120961441  DT.95103522  DT.100789589  DT.100746201  DT.121304172 
    DT.100789591  DT.86846902  DT.121304222  DT.91751853  DT.100643237  DT.100712073  DT.121304224  DT.95210970 
    DT.121304253  DT.95176171  DT.106335  DT.121304174  DT.121304234  DT.210772  DT.121304233  DT.91751855 

    Selected AceView cDNA sequences (see all 411):

    AA400855 D59627 BP340776 BM703865 CB117719 CK825623 BP378016 AA971226 
    AW025886 AW118174 CR598546 BF197235 CR595897 BM354133 AI887507 AA243506 
    BM978028 CR608831 AA907724 CB998897 AA398799 AA633089 AA126628 BU077814 

    GeneLoc Exon Structure


    (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)
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    AP1S2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCCATAC
    AP1S2 Expression
    About this image


    AP1S2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Gonad
             Spermatid Seminiferous Tubules
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    AP1S2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP1S2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.121592

    UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377
    Tissue specificity: Widely expressed

        Custom PCR Arrays for AP1S2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S2

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

    Orthologs for AP1S2 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap1s21 , 5 adaptor-related protein complex 1, sigma 2 subunit1, 5 93.38(n)1
    98.63(a)1
      X (75.97 cM)5
    1080121  NM_026887.21  NP_081163.21 
     1639090175 
    chicken
    (Gallus gallus)
    Aves AP1S21 adaptor-related protein complex 1, sigma 2 subunit 86.62(n)
    99.36(a)
      418621  NM_001006261.1  NP_001006261.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP1S26
    adaptor-related protein complex 1, sigma 2 subunit...
    93(a)
    1 ↔ 1
    3(121640391-121665422)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX706087.12   -- 82.28(n)    BX706087.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap1s21 adaptor-related protein complex 1, sigma 2 subunit 77.92(n)
    92.36(a)
      327237  NM_205558.1  NP_991121.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-1&sgr;3
    AP-1sigma1
    non-selective vesicle coating3
    AP-1sigma1
    81(a)3
    69.03(n)1
    82.58(a)1
      95D13
    428351  NM_001260344.21  NP_001247273.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aps-11 aps-1 65.59(n)
    80(a)
      178989  NM_072158.4  NP_504559.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS1(YLR170C)4
    APS11
    Small subunit of the clathrin-associated adaptor complex more4
    APS11
    57.88(n)1
    54.73(a)1
      12(501049-500579)4
    8508681, 4  NP_013271.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G354101 AT4G35410 58.66(n)
    59.74(a)
      829694  NM_119707.3  NP_195267.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07837001 Os03g0783700 60.17(n)
    58.44(a)
      4334331  NM_001058004.1  NP_001051469.1 


    ENSEMBL Gene Tree for AP1S2 (if available)
    TreeFam Gene Tree for AP1S2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP1S2 gene
    AP1S32  AP4S12  AP2S12  AP1S12  
    8 SIMAP similar genes for AP1S2 using alignment to 6 protein entries:     AP1S2_HUMAN (see all proteins):
    DKFZp779P0659    AP1S1    AP1S3    AP2S1    AP4S1    C15orf38-AP3S2
    AP3S2    AP3S1

    AP1S2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AP1S2
    PGOHUM00000233484


    (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)
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    Selected SNPs for AP1S2 (see all 356)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048947351,2
    Cpathogenic115785700(-) AGTGGC/TGAGAT 4 R * stg10--------
    rs1048947391,2
    Cpathogenic115785748(-) TTGTTC/TAGACC 4 Q * stg10--------
    rs1806950831,2
    --15758787(+) AGGCCA/TGTTTT 2 -- ds50010--------
    rs732028521,2
    C--15758865(+) GCAACC/TTAATT 2 -- ds50010--------
    rs736358361,2
    C,F--15758921(+) GTAACG/ATTTCC 2 -- ds50011Minor allele frequency- A:0.00WA 2
    rs1921415381,2
    --15759198(+) AGGCTC/GTCAGT 2 -- ut310--------
    rs120090711,2
    C,H--15759257(+) CTTCCA/CCCATG 2 -- ut312Minor allele frequency- C:0.00NA 4
    rs1492369161,2
    C--15759794(+) CAGAGA/GGAACA 2 -- ut310--------
    rs1818730121,2
    --15759795(+) AGAGGA/GAACAT 2 -- ut310--------
    rs356564731,2
    C--15760227(+) TTCCC-/TTTTTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for AP1S2 (15843929 - 15873100 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AP1S2: --
    Human Gene Mutation Database (HGMD): AP1S2
    Locus Specific Mutation Databases (LSDB): AP1S2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP1S2
    DNA2.0 Custom Variant and Variant Library Synthesis for AP1S2

    (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.)
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    OMIM gene information: 300629   
    OMIM disorders: 300630  
    UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377
  • Mental retardation, X-linked 59 (MRX59) [MIM:300630]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. MRX59 consists of a mild-to-profound mental retardation. Other features includes
    hypotonia early in life and delay in walking. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 14 diseases for AP1S2:    
    About MalaCards
    intellectual deficit, x-linked - dandy-walker malformation - basal ganglia disease - seizures    mental retardation, x-linked syndromic, fried type    mental retardation, x-linked    hydrocephalus
    hypotonia    mental retardation    intellectual disability    kaposi's sarcoma
    hiv-1    sarcoma    malaria    multiple myeloma
    myeloma    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for AP1S2:
    Intellectual disability

    AP1S2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AP1S2

    Export disorders for AP1S2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP1S2 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with AP1S2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (PubMed id 17186471)1, 2, 3, 9 Tarpey P.S.... Raymond F.L. (Am. J. Hum. Genet. 2006)
    2. Identification and characterization of novel clathrin adaptor-related proteins. (PubMed id 9733768)1, 2, 3 Takatsu H.... Nakayama K. (J. Biol. Chem. 1998)
    3. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (PubMed id 23756445)1, 3 Cacciagli P....Villard L. (Eur. J. Hum. 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. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. (PubMed id 18428203)1, 9 Borck G....Colleaux L. (Hum. Mutat. 2008)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. 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)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. The Nef-infectivity enigma: mechanisms of enhanced lentiviral infection. (PubMed id 22103831)1 Vermeire J....Verhasselt B. (Curr. HIV Res. 2011)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8905 HGNC: 560 AceView: AP1S2 Ensembl:ENSG00000182287 euGenes: HUgn8905
    ECgene: AP1S2 Kegg: 8905 H-InvDB: AP1S2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP1S2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP1S2 gene:
    Search GeneIP for patents involving AP1S2

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



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