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

AP1S2 Gene

protein-coding   GIFtS: 63
GCID: GC0XM015843

Adaptor-Related Protein Complex 1, Sigma 2 Subunit

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

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

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 fried syndrome, and mental retardation, x-linked, and among its related super-pathways are Clathrin-dependent protein traffic and Clathrin derived vesicle budding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP1S2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: 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
Sequence caution: Sequence=AAG44595.1; Type=Erroneous initiation;
Secondary accessions: O95326 Q9H2N6

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

Explore proteomics data for AP1S2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56377

  • AP1S2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP1S2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001259000.1  NP_003907.3  

    ENSEMBL proteins: 
     ENSP00000328789   ENSP00000403498   ENSP00000369645   ENSP00000389474   ENSP00000444957  
     ENSP00000414714  
    Reactome Protein details: P56377
    Human Recombinant Protein Products for AP1S2: 
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    ProSpec Recombinant Protein for AP1S2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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 (GO ID links to tree view):    About this table

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


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AP1S2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP1S2 
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    miRNA
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    miRTarBase miRNAs that target AP1S2:
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S2
    8/28 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S2


    (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 AP1S2 About   (see all 10)                                                                                              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
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Lysosome Vesicle Biogenesis0.39
    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 adapters0.75
    Nef mediated downregulation of MHC class I complex cell surface expression0.48
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    4HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AP1S2
        Clathrin-dependent protein traffic

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

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

    5/14        Reactome Pathways for AP1S2 (see all 14)
        Membrane Trafficking
    Clathrin derived vesicle budding
    trans-Golgi Network Vesicle Budding
    Adaptive Immune System
    Lysosome Vesicle Biogenesis


    1         Kegg Pathway  (Kegg details for AP1S2):
        Lysosome


    AP1S2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP1S2

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

    5/82 Interacting proteins for AP1S2 (P563773 ENSP000003287894) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2B1P630103, ENSP000003144144I2D: score=6 STRING: ENSP00000314414
    AP1S1P619663, ENSP000003366664I2D: score=1 STRING: ENSP00000336666
    AP1M1Q9BXS53, ENSP000003889964I2D: score=6 STRING: ENSP00000388996
    AP1G1O437473, ENSP000003771484I2D: score=12 STRING: ENSP00000377148
    GGA3Q9NZ523, ENSP000002455414I2D: score=3 STRING: ENSP00000245541
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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:0006897endocytosis IEA--
    GO:0015031protein transport ----

    AP1S2 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
    EMD Millipore small molecules for AP1S2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP1S2

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/28 QIAGEN miScript miRNA 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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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP1S2
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    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 

    24/25 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 

    24/411 AceView cDNA sequences (see all 411):

    AA400855 AA633089 BM354133 BU077814 CB117719 AW771406 AA149587 BP341158 
    AI823837 BM711277 AA480858 AA442275 D59551 AI034045 BG206722 BM672382 
    D59552 BQ632506 BM665164 AA480914 BM666267 BQ893417 CK825623 BP378016 

    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™, 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

    AP1S2 expression in normal human tissues (normalized intensities)      AP1S2 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Blood (Hematopoietic System)
             cd14+ cells   
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See AP1S2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP1S2

    SOURCE GeneReport for Unigene cluster: Hs.121592

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

        SABiosciences Custom PCR Arrays for AP1S2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP1S2
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP1S2 gene from 10/25 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
    69.68(n)1
    83.23(a)1
      95D13
    428351  NM_142941.21  NP_651198.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aps-11 Protein APS-1 65.59(n)
    80(a)
      178989  NM_072158.3  NP_504559.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS1(YLR170C)4
    APS11
    Small subunit of the clathrin-associated adaptor complex more4
    Aps1p1
    57.88(n)1
    54.73(a)1
      12(501049-500579)4
    8508681, 4  NP_013271.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G354101 AP-1 complex subunit sigma-2 58.66(n)
    59.74(a)
      829694  NM_119707.3  NP_195267.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07837001 hypothetical protein 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)
    About This Section
    Paralogs for AP1S2 gene
    AP1S32  AP4S12  AP2S12  AP1S12  
    8 SIMAP similar genes for AP1S2 using alignment to 7 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) 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

    10/356 SNPs in AP1S2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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 adaptative 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

  • 9 diseases for AP1S2:    About MalaCards
    fried syndrome    mental retardation, x-linked    hydrocephalus    mental retardation
    hypotonia    intellectual disability    kaposi's sarcoma    hiv type 1
    sarcoma

    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)
    About This Section

    PubMed articles for AP1S2 gene, integrated from 9 sources (see all 35):
    (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. (2006)
    2. Identification and characterization of novel clathrin adaptor-related proteins. (PubMed id 9733768)1, 2, 3 Takatsu H.... Nakayama K. (1998)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. 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. (2008)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. The Nef-infectivity enigma: mechanisms of enhanced len tiviral infection. (PubMed id 22103831)1 Vermeire J....Verhasselt B. (2011)
    10. HIV-1 envelope glycoprotein biosynthesis, trafficking, and incorporation. (PubMed id 21762802)1 Checkley M.A....Freed E.O. (2011)

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

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

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

    (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 AP1S2 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 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



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    About This Section

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