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SAPS2 Gene

protein-coding   GIFtS: 57

GC22P049072
SAPS domain family, member 2
(Previous name: KIAA0685 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: KIAA0685)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
KIAA0685 1, 2, 3, 5
PP6R2 2, 3, 5
SAP190 1, 2
dJ579N16.1 1, 2
Descriptions
SAPS domain family member 2 3
SAPS domain family, member 2 2
External Ids
HGNC: 192531
Entrez Gene: 97012
UniProtKB: O751703
Ensembl: ENSG000001002397
Search outside databases for aliases for SAPS2 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for SAPS2:
Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein
phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and
determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for
the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006
[PubMed 16769727]).[supplied by OMIM]

UniProtKB/Swiss-Prot: SAPS2_HUMAN, O75170
Function: Regulatory subunit of protein phospatase 6 (PP6). May function as a scaffolding PP6
subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in
response to TNF-alpha

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SAPS2 gene  

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

SAPS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P049072:     (about GC identifiers)

Start:
49,128,599 bp from pter
End:
49,230,380 bp from pter
Size:
101,782 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011526.6  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: SAPS2_HUMAN, O75170 (See protein sequence)
Recommended Name: Serine/threonine-protein phosphatase 6 regulatory subunit 2  
Size: 966 amino acids; 104942 Da
Subunit: Protein phospatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by
the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain
containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28
Subcellular location: Cytoplasm
Secondary accessions: A6PVG3 Q7Z5G5 Q9UGB9
Alternative splicing: 2 isoforms:  O75170-1   O75170-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_055493.2  

    ENSEMBL proteins: 
    ENSP00000379095 ENSP00000352051 ENSP00000379090 ENSP00000379093 ENSP00000216061 ENSP00000384532 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (SAPS2)
    Human Recombinant Proteins from Abnova (SAPS2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    About this table

    Antibodies for SAPS2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SAPS2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (SAPS2)
    Novus Biologicals Antibodies for SAPS2

    Assays for SAPS2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR007587 SAPS


       GeneDecks  SAPS2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O75170

    ProtoNet protein and cluster: O75170

    1 Blocks protein family: IPB007587 SIT4 phosphatase-associated protein

    UniProtKB/Swiss-Prot: SAPS2_HUMAN, O75170
    Similarity: Belongs to the SAPS family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SAPS2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): BC006568

                  Applied Biosystems Silencer® siRNAs for SAPS2

                  Sigma-Aldrich siRNA for SAPS2  
                         Sigma-Aldrich shRNA for SAPS2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SAPS2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_014678
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_014678
                                     untagged cDNA clones in CMV expression vector (see all 4): BC006568 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_014678

    UniProtKB/Swiss-Prot: SAPS2_HUMAN, O75170
    Function: Regulatory subunit of protein phospatase 6 (PP6). May function as a scaffolding PP6
    subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in
    response to TNF-alpha

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI16769727 18186651
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    3 Interacting proteins for SAPS2 (ENSP000002160613 O751701, 2) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP6CO007431STRING (score=.972) EBI-359739, EBI-359751
    NFKBIEO002211, 2STRING (score=.973) EBI-359739, EBI-355098 MINT-47945 EBI-359739, EBI-355098 MINT-47945
    ANKRD28O150841EBI-359739, EBI-359567
    NFKBIEO002211, 2STRING (score=.973) EBI-359739, EBI-355098 MINT-47945 EBI-359739, EBI-355098 MINT-47945
    NFKBIEO002211, 2STRING (score=.973) EBI-359739, EBI-355098 MINT-47945 EBI-359739, EBI-355098 MINT-47945
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for SAPS2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SAPS2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): BC006568

                  Sigma-Aldrich siRNA for SAPS2  
                         Sigma-Aldrich shRNA for SAPS2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_014678  

    REFSEQ mRNAs for SAPS2 gene: 

    NM_014678.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_014678  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_014678
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_014678
                                     untagged cDNA clones in CMV expression vector (see all 4): BC006568 

    Additional cDNA sequence: 

    AB014585.1 AK002063.1 AK022669.1 AK302472.1 BC000976.4 BC006568.2 BC032664.1 BC041698.1 
    BC052995.2 CR611290.1 

    24/39 DOTS entries (see all 39 ):

    DT.448541  DT.100796870  DT.91754729  DT.100796851  DT.101984931  DT.100811416  DT.40296258  DT.95129220 
    DT.100796869  DT.95129217  DT.100796866  DT.95129242  DT.100796868  DT.120634500  DT.100699279  DT.95362164 
    DT.100796867  DT.91721997  DT.91746235  DT.100796860  DT.100811415  DT.102838633  DT.120634528  DT.120634577 

    24/324 AceView cDNA sequences (see all 324 ):

    H55503 BM708928 CD742832 BC000976 F29393 BM806913 BQ643762 AA897448 
    BM789768 CA432857 AI459136 AW204394 BX508819 BQ648390 BQ937868 CK903718 
    AI739063 BU186078 AA991740 BM772885 AL046689 AW134896 NM_014678 BX487177 

    highest scoring ESTs for SAPS2:

    AB014585 AA120796 AA341237 AA405797 AA550804 AA577405 AA595366 AA642372 AA676532 AA765065 

    Unigene Cluster for SAPS2:

    SAPS domain family, member 2
    Hs.449098  [show with all ESTs]
    Unigene Representative Sequence: NM_014678


    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for SAPS2 (see all 15 )

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a ·
    SP1:                          -     -     -     -                                                                                                               
    SP2:                          -     -     -     -                                                                                                               
    SP3:                          -     -     -     -                                                                                                               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26
    SP1:              -                                   -                 -               
    SP2:              -                                   -                 -               
    SP3:              -                                   -                 -               
    SP4:                                                  -                 -               
    SP5:              -                                   -                 -               

    About this scheme

    ECgene alternative splicing isoforms for SAPS2

    6 Ensembl transcripts including schematic representations:
    ENST00000395746  ENST00000359139  ENST00000395741  ENST00000395744  ENST00000216061  ENST00000401672  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SAPS2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SAPS2

    1 / 2 / 3

    7 probe-sets matching SAPS2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40224_s_at2, 3 U95-A 2 1.00 0.94 0.95 1.05 AB014585 1.00 0.87 0.94 1
    77912_at2, 3 U95-D 1 0.44 1.00 0.73 0.96 AI459136 0.60 1.00 0.82 1

    202792_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_014678 0.60 1.00 0.82 1

    202791_s_at2, 3 U133-A 1 1.00 1.00 -- -- AK022669 0.80 1.00 0.91 1

    202792_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    202791_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1570210_x_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    GeneDecks  SAPS2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCGTCCTAGA

    SOURCE GeneReport for Unigene cluster: Hs.449098

    Expression variation in blood from EXPOLDB for SAPS2

    UniProtKB/Swiss-Prot: SAPS2_HUMAN, O75170
    Tissue specificity: Ubiquitously expressed with strongest expression in the testis followed by
    liver, heart, kidney, brain and placenta

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for SAPS2 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SAPS21   -- SAPS domain family, member 2 76.79(n)
    74.04(a)
    481191  XM_538312.2  XP_538312.2 
    chimpanzee
    (Pan troglodytes)
    SAPS21   -- SAPS domain family, member 2 95.09(n)
    94.73(a)
    458987  XM_001141555.1  XP_001141555.1 
    rat
    (Rattus norvegicus)
    Saps21   -- SAPS domain family, member 2 83.66(n)
    82.21(a)
    300146  XM_217014.4  XP_217014.4 
    mouse
    (Mus musculus)
    Saps21, 5 155
    SAPS domain family, member 21, 5 84.24(n)1
    82.93(a)1
    714741  NM_026813.11  NP_081089.11 
     AK0040795  AK0184035  (see all 14)
    zebrafish
    (Danio rerio)
    DKEY-266M15.71   -- novel protein with a SIT4 phosphatase-associated protein more 63.4(n)
    56.82(a)
    565779  XM_689049.3  XP_694141.3 
    About this table        Species with no ortholog for SAPS2

    ENSEMBL Gene Tree for SAPS2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SAPS2 gene
    SAPS12  SAPS32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/699 NCBI SNPs in SAPS2 are shown (see all 699 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 127)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7560141,2
    A,C,F,H,O49230827(-) GGCGGT/CGAGAA 1 -- ng3113Minor allele frequency- C:0.36MN EU EA WA NA 1226
    rs7617441,2
    A,C,F,H49230594(+) ACTTCG/ACCTAA 1 -- ng319Minor allele frequency- A:0.04NA EA MN EU WA 1018
    --
    rs130573111,2
    A,C,F,H49225062(+) GGTGAG/AGGACG 1 K/R mis1 ese38Minor allele frequency- A:0.20NA EU EA WA 620
    rs10767801,2
    C,F,H49230225(+) GCACTG/AGGGGC 1 -- ut31 ese310Minor allele frequency- A:0.40NA PA EA WA MN 846
    rs115551941,2
    C,F,H49223528(+) GATGAT/GGAGGA 1 E/D mis1 ese38Minor allele frequency- G:0.07EU EA WA 812
    rs96170071,2
    F,H49230277(+) TCCTAG/AAAGGG 1 -- ut31 ese34Minor allele frequency- A:0.01EU EA WA 416
    --
    rs10566761,2
    F49229924(+) TTTTTT/GTTGTT 1 -- ut311Minor allele frequency- G:0.45MN 184
    rs48241311,2
    A,C,F,H49224032(+) GAAGCC/GCCCCC 1 A/A syn1 ese35Minor allele frequency- G:0.32MN EA WA NA 548
    --
    rs22732601,2
    C,F49226313(+) GAGGCT/GGTCGG 1 A/A syn1 ese32Minor allele frequency- G:0.19EA MN 910
    rs10055361,2
    A,C,F,H,O49216781(+) GACACG/AGGGGC 1 -- int18Minor allele frequency- A:0.40EA NA EU WA 572
    About this table

    HapMap Linkage Disequilibrium images for SAPS2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 610877

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/11 PubMed articles for SAPS2 gene (see all 11 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 9701 HGNC: 19253 AceView: KIAA0685 Ensembl:ENSG00000100239 euGenes: HUgn9701
    ECgene: SAPS2 H-InvDB: SAPS2
    (According to HUGE)
    About This Section

    HUGE: KIAA0685
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SAPS2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SAPS2-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for SAPS2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SAPS2 Browse small molecules at Sigma-Aldrich
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     Antibodies for SAPS2

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