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

STH Gene

protein-coding   GIFtS: 40
GCID: GC17P044076

Saitohin

Alzheimer's & Parkinson's 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
saitohin1 2
Microtubule-Associated Protein Tau (MAPT) Intronic Transcript1 2
MAPTIT2

External Ids:    HGNC: 188391   Entrez Gene: 2467442   Ensembl: ENSG000002567627   OMIM: 6070675   UniProtKB: Q8IWL83   

Export aliases for STH gene to outside databases

Previous GC identifers: GC17U990336 GC17P041432


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

GeneCards Summary for STH Gene: 
STH (saitohin) is a protein-coding gene. Diseases associated with STH include argyrophilic grain disease, and progressive supranuclear palsy.

Gene Wiki entry for STH 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_000017.10  NC_018928.2  NT_010783.15  NT_167251.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the STH gene promoter:
         SRF   HOXA9   SRF (504 AA)   Meis-1b   NF-AT   NF-AT4   NF-AT2   NF-AT3   Pax-4a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTH promoter sequence
   Search SABiosciences Chromatin IP Primers for STH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STH


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

Entrez Gene cytogenetic band: 17q21.1   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.1

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P044076:  view genomic region     (about GC identifiers)

Start:
44,076,616 bp from pter      End:
44,077,060 bp from pter
Size:
445 bases      Orientation:
plus strand

1 alternative location:
Chr17-,NT_167251 790,717-791,103     

(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: STH_HUMAN, Q8IWL8 (See protein sequence)
Recommended Name: Saitohin  
Size: 128 amino acids; 13652 Da
Subunit: Interacts with PRDX6
Subcellular location: Cytoplasm. Nucleus
Miscellaneous: Was called 'saitohin' in honor of the late Tsuanao Saitoh and his laboratory
Secondary accessions: A1L3X7

Explore the universe of human proteins at neXtProt for STH: NX_Q8IWL8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWL8

  • STH Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001007533.1  
    ENSEMBL proteins: 
     ENSP00000443168  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    STH 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

    ProtoNet protein and cluster: Q8IWL8


    (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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for STH 
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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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STH

    (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 STH

    Search CenterWatch for drugs/clinical trials and news about STH

    (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,
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    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 STH gene: 
    NM_001007532.2  

    Unigene Cluster for STH:

    Saitohin
    Hs.661831
    Unigene Representative Sequence: NM_001007532
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000537309(uc002ijy.2)

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    Additional mRNA sequence: 

    AY179170.1 BC130319.1 BC130321.1 

    1 DOTS entry:

    DT.40215379 

    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

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


    Genevestigator expression for STH

    SOURCE GeneReport for Unigene cluster: Hs.661831

    UniProtKB/Swiss-Prot: STH_HUMAN, Q8IWL8
    Tissue specificity: Highest expression in placenta, muscle, fetal brain, and adult brain, with lower expression in
    heart, kidney, stomach, testis, and adrenal gland. In the central nervous system, highest expression is in
    temporal lobe, hypothalamus, medulla and spinal cord, with lower expression in other brain regions

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    In Situ
    Assay Products:
     

     
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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 human and chimp.

    Orthologs for STH gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia STH1 saitohin 98.7(n)
    97.66(a)
      493950  NM_001009146.1  NP_001009146.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    UniProtKB/Swiss-Prot: STH_HUMAN, Q8IWL8
    Polymorphism: The Arg-7 polymorphism may be associated with progressive supranuclear palsy


    1 SNPs in STH are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195484
    ----see VAR_0195482 Q R mis40--------

    HapMap Linkage Disequilibrium report for STH (44076616 - 44077060 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for STH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2068CNV Insertion18451855
    nsv469705CNV Loss16826518
    nsv510714CNV Loss20534489
    esv2751686CNV Gain17911159
    dgv127e55CNV Gain17911159


    Human Gene Mutation Database (HGMD): STH
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing STH
    DNA2.0 Custom Variant and Variant Library Synthesis for STH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607067    OMIM disorders: --

    7 diseases for STH:    About MalaCards
    argyrophilic grain disease    progressive supranuclear palsy    tauopathy    frontotemporal dementia
    dementia    parkinson's disease    alzheimer's disease


    STH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for STH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    frontotemporal dementia 66.6 1 12826737 (1)
    tauopathies 62.6 1 12875906 (1)
    neurodegenerative diseases 60.9 3 18300012 (1), 18850062 (1)
    alzheimers disease 58.9 11 12588928 (2), 16603077 (1), 12865131 (1), 18850062 (1) (see all 6)
    parkinson disease 44.4 6 14966169 (1), 12865131 (1)
    dementia 10.7 4 12865131 (1)

    Genetic Association Database (GAD): STH
    Human Genome Epidemiology (HuGE) Navigator: STH (110 documents)

    Export disorders for STH 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 STH gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with STH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6. (PubMed id 16186110)1, 2, 3 Gao L....Andreadis A. (2005)
    2. Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. (PubMed id 12913211)1, 2, 4 de Silva R....Lees A.J. (2003)
    3. A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease. (PubMed id 12032355)1, 2, 3 Conrad C.... Davies P. (2002)
    4. Variation at APOE and STH loci and Alzheimer's disease. (PubMed id 16603077)1, 4, 9 Zuo L....Gelernter J. (2006)
    5. HD phenocopies--possible role of Saitohin gene. (PubMed id 18300012)1, 4, 9 Jankovic N....Romac S. (2008)
    6. TAU haplotype and the Saitohin Q7R gene polymorphism do not influence CSF Tau in Alzheimer's disease and are not associated with frontotemporal dementia or Parkinson's disease. (PubMed id 16909000)1, 4, 9 Johansson A....Blennow K. (2005)
    7. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. (PubMed id 18509094)1, 4, 9 Tobin J.E....Myers R.H. (2008)
    8. The Q7R polymorphism in the saitohin gene is rare in a southern Chinese population. (PubMed id 18850062)1, 4, 9 Lin K....Ma C. (2008)
    9. Genetic analysis of tumor necrosis factor-alpha (TNF-alpha) G-308A and Saitohin Q7R polymorphisms with Alzheimer's disease. (PubMed id 18396294)1, 4, 9 Wang B....Ma X. (2008)
    10. Cluster Analysis of Risk Factor Genetic Polymorphisms in Alzheimer's Disease. (PubMed id 18307033)1, 4 Randall C.N....Poduslo S.E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 246744 HGNC: 18839 Ensembl:ENSG00000256762 euGenes: HUgn246744 ECgene: STH
    H-InvDB: STH

    (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 STH 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 STH gene:
    Search GeneIP for patents involving STH

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STH
     Browse SwitchGear 3'UTR luciferase reporter plasmids for STH
     SwitchGear Promoter luciferase reporter plasmids for STH
     Search ThermoFisher Antibodies for STH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STH
     inGenious Targeting Laboratory - Custom generated mouse model solutions for STH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for STH
    Customized:
     lentivirus for stable overexpression of STH
     lentivirus expression plasmids for stable overexpression of STH
     adenovirus for overexpression of STH
     LSBio Antibodies in human, mouse, rat for STH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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