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

SETX Gene

protein-coding   GIFtS: 55
GCID: GC09M135136

senataxin

(Previous names: amyotrophic lateral sclerosis 4, spinocerebellar ataxia,...)
(Previous symbols: ALS4, SCAR1)
 Explore 22 diseases affiliated with
SETX via our new
 Human Malady Compendium 
Biological research products
for SETX
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Senataxin1     Amyotrophic Lateral Sclerosis 41
ALS41 2 3 5     Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 11
SCAR11 2 3 5     BA479K20.21
AOA21 2 5     Probable Helicase Senataxin2
KIAA06251 3     EC 3.6.4.-3
Amyotrophic Lateral Sclerosis 4 Protein2 3     EC 3.6.18
SEN1 Homolog2 3     

External Ids:    HGNC: 4451   Entrez Gene: 230642   Ensembl: ENSG000001072907   OMIM: 6084655   UniProtKB: Q7Z3333   

Export aliases for SETX gene to outside databases

Previous GC identifers: GC09M132170 GC09M134129 GC09M104630


(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 SETX:
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity
encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase
domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this
gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic
lateral sclerosis (ALS4). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SETX_HUMAN, Q7Z333
Function: Probable helicase, which may be involved in RNA maturation (By similarity). Involved in DNA double-strand
breaks damage response generated by oxidative stress

Gene Wiki entry for SETX


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SETX gene promoter:
         ISGF-3   FOXO3   FOXD3   Cdc5   FOXO3b   MEF-2A   POU2F1   POU2F1a   FOXO3a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SETX

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


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

Entrez Gene cytogenetic band: 9q34.13   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M135136:  view genomic region     (about GC identifiers)

Start:
135,136,743 bp from pter      End:
135,230,372 bp from pter
Size:
93,630 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SETX_HUMAN, Q7Z333 (See protein sequence)
Recommended Name: Probable helicase senataxin  
Size: 2677 amino acids; 302880 Da
Subcellular location: Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Note=May be detected in the nucleolus only
in cycling cells (By similarity). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells
with FBL in the nucleolus
Sequence caution: Sequence=BAA91701.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14299.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97857.1;
Type=Frameshift; Positions=1626;
Secondary accessions: A2A396 B2RPB2 B5ME16 C9JQ10 O75120 Q3KQX4 Q5JUJ1 Q68DW5 Q6AZD7 Q7Z3J6 Q8WX33
Q9H9D1 Q9NVP9
Alternative splicing: 3 isoforms:  Q7Z333-1   Q7Z333-3   Q7Z333-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETX: NX_Q7Z333

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z333

  • 4 DME Specific Peptides for SETX (Q7Z333)
     SPATDDA  LVCAPSN  DRGIIVS  LTVQYRM 

    SETX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055861.3  
    ENSEMBL proteins: 
     ENSP00000224140   ENSP00000409143   ENSP00000361242   ENSP00000376913  

    Human Recombinant Protein Products: 
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    Novus Biologicals SETX Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SETX

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17562789
    GO:0005654nucleoplasm IDA17562789
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA17562789


    SETX for ontologies           About GeneDecksing



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

    SETX for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026121 Senataxin

    Graphical View of Domain Structure for InterPro Entry Q7Z333

    ProtoNet protein and cluster: Q7Z333

    UniProtKB/Swiss-Prot: SETX_HUMAN, Q7Z333
    Similarity: Belongs to the DNA2/NAM7 helicase family


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

    Function Summary:

         UniProtKB/Swiss-Prot: SETX_HUMAN, Q7Z333
    Function: Probable helicase, which may be involved in RNA maturation (By similarity). Involved in DNA double-strand
    breaks damage response generated by oxidative stress

    Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETX
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SETX (see all 21):
    hsa-miR-300 hsa-miR-181c hsa-miR-488 hsa-miR-340 hsa-miR-23a hsa-miR-3143 hsa-miR-181b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidSETX 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETX

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IC17562789
    GO:0003678DNA helicase activity TAS17562789
    GO:0005524ATP binding IEA--


    SETX for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SETX:
     Increased homologous recombina 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SETX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/750 Interacting proteins for SETX (Q7Z3332, 3 ENSP000002241404) via UniProtKB, MINT, STRING, and/or I2D (see all 750)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    UBE2IP632793, ENSP000003248974I2D: score=3 STRING: ENSP00000324897
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair IDA17562789
    GO:0006369termination of RNA polymerase II transcription IEA--
    GO:0006396RNA processing TAS17562789
    GO:0007623circadian rhythm IEA--
    GO:0008219cell death IEA--


    SETX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SETX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SETX
    2 Novoseek chemical compound relationships for SETX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin-e 31.4 3 17112370 (1), 16193447 (1), 19141356 (1)
    alpha tocopherol 26 3 17112370 (1), 16193447 (1)

    Search CenterWatch for drugs/clinical trials and news about SETX 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SETX gene: 
    NM_015046.5  

    Unigene Cluster for SETX:

    Senataxin
    Hs.460317  [show with all ESTs]
    Unigene Representative Sequence: NM_015046
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000224140(uc004cbk.3) ENST00000436441 ENST00000477049 ENST00000464133
    ENST00000474172 ENST00000372169(uc004cbj.3) ENST00000393220(uc010mzt.3)


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    hsa-miR-300 hsa-miR-181c hsa-miR-488 hsa-miR-340 hsa-miR-23a hsa-miR-3143 hsa-miR-181b hsa-miR-3163
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETX

    Additional cDNA sequence: 

    AB014525.2 AK001456.1 AK022902.1 AK024331.1 AK025601.1 AK125448.1 AK226007.1 AK302394.1 
    AK307608.1 AY362728.1 BC032600.2 BC032622.1 BC078166.1 BC106017.1 BC137350.1 BX537849.1 
    BX538166.1 CR749249.1 

    18 DOTS entries:

    DT.95149009  DT.92439864  DT.454599  DT.121150438  DT.121150483  DT.100784916  DT.95152255  DT.86841179 
    DT.92439876  DT.92439878  DT.40129268  DT.95148864  DT.95345721  DT.97822805  DT.97823827  DT.121150474 
    DT.91646793  DT.97783983 

    24/395 AceView cDNA sequences (see all 395):

    CA448085 AK025601 AA814618 AA505302 AI290332 AA284334 CA419586 Z45213 
    BM718142 BF939450 AL046658 AA864908 AA253472 AA962467 CA445491 BQ271780 
    BM054862 BP871766 AA904455 AA704244 AI333472 AA505301 Z40775 AI248414 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SETX (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:        -                                                                                                                                                   
    SP5:                                                                                -     -     -                                                               

    ExUns: 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
    SP1:        -                                         -                 -               
    SP2:                                                                                    
    SP3:                                                  -                                 
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for SETX

    (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

    SETX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTAGAGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SETX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETX

    SOURCE GeneReport for Unigene cluster: Hs.460317

    UniProtKB/Swiss-Prot: SETX_HUMAN, Q7Z333
    Tissue specificity: Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly
    expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but
    low expression in the glomerulus)

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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 eukaryotes.

    Orthologs for SETX gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SETX1 senataxin 63.06(n)
    55.58(a)
      417170  XM_415453.3  XP_415453.3 
    lizard
    (Anolis carolinensis)
    Reptilia SETX6
    --
    38(a)
    1 ↔ 1
    GL344844.1(582-19376)
    zebrafish
    (Danio rerio)
    Actinopterygii CF594441.12   -- 76.65(n)    CF594441.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G191201 tRNA-splicing endonuclease positive effector-related more 44.67(n)
    31.59(a)
      816429  NM_127469.2  NP_179502.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 15)
    conserved hypothetical protein
    tRNA-splicing endonuclease positive effector-relat...
    (see all 15)
    8(a)
    6(a)
    (see all 15)
    possible ortholog
    possible ortholog
    (see all 15)
    11(25392798-25400155)
    4(30064326-30078384)


    ENSEMBL Gene Tree for SETX (if available)
    TreeFam Gene Tree for SETX (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, UniProtKB, 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

    10/2184 NCBI SNPs in SETX are shown (see all 2184    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs290015841,2
    Cpathogenic104699624(-) AACATT/CAGCCA 2 /S /L mis13Minor allele frequency- C:0.00NA EU 1327
    rs290016651,2
    Cpathogenic104700485(-) ATATAC/TGGAAC 2 R W mis12Minor allele frequency- T:0.00NA 4
    rs1162050321,2
    C,F,pathogenic107209043(+) AGTGTT/CACATG 2 /N /D mis13Minor allele frequency- C:0.01WA NA EU 5927
    rs1163330611,2
    C,F,pathogenic107209193(+) GTCTTG/TCACTT 2 K Q mis13Minor allele frequency- T:0.01WA NA EU 5977
    rs1133090151,2
    --104630408(+) AAGTGT/AGTTCC 1 -- ds50012Minor allele frequency- A:0.16CSA WA 120
    rs735450651,2
    C,--104631050(+) TCACAG/AAAACA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs727658121,2
    C,F,--104632268(+) TTTGGA/GAAACT 1 -- ut311Minor allele frequency- G:0.03NA 120
    rs104919061,2
    C,F,H,--104632332(-) GTCATG/CGTGAA 1 -- ut3115Minor allele frequency- C:0.02NS EA NA WA 786
    rs123532591,2
    H--104632379(+) TAGTAG/ACTGGA 1 -- ut314Minor allele frequency- A:0.00NS EA 420
    rs123492101,2
    C,F,H,--104632504(+) TTTTAA/TATCGG 1 -- ut3111Minor allele frequency- T:0.04NS EA NA WA 1656

    HapMap Linkage Disequilibrium report for SETX (135136743 - 135230372 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SETX: --
    Human Gene Mutation Database (HGMD): SETX

    Locus Specific Mutation Databases (LSDB): SETX

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SETX
    DNA2.0 Custom Variant and Variant Library Synthesis for SETX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SETX for disorders           About GeneDecksing

    OMIM gene information: 608465   
    OMIM disorders: 606002  602433  
    UniProtKB/Swiss-Prot: SETX_HUMAN, Q7Z333
  • Defects in SETX are the cause of spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]; also
  • known as ataxia-ocular apraxia 2. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of
    cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech
    and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.
    SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein,
    immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia
  • Defects in SETX are a cause of amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]. ALS4 is a familial
  • form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and
    resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology
    of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The
    disease is inherited in 5-10% of cases leading to familial forms. ALS4 is a childhood- or adolescent-onset form
    characterized by slow disease progression and the sparing of bulbar and respiratory muscles

    20/22 diseases for SETX (see all 22):    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    ataxia-ocular apraxia    amyotrophic lateral sclerosis (als)
    apraxia    ataxia    oculomotor apraxia    spinocerebellar ataxia
    splenic marginal zone lymphoma    ataxia with oculomotor apraxia type 2    distal hereditary motor neuropathy    amyotrophic lateral sclerosis, type 4
    friedreich ataxia    cerebellar ataxia    axonal neuropathy    motor neuron disease
    ataxia telangiectasia    peripheral neuropathy    neuropathy    tremor

    6 diseases from the University of Copenhagen DISEASES database for SETX:
    Apraxia     DOID:4019     Cerebellar ataxia     Amyotrophic lateral sclerosis
    Friedreich ataxia     Ataxia telangiectasia

    8 Novoseek disease relationships for SETX gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    third-nerve palsy 93 1 18405395 (1)
    cerebellar ataxia early onset 92.1 1 16193447 (1)
    apraxias 91.5 23 17562789 (2), 19884310 (1), 15279807 (1), 17112370 (1) (see all 14)
    vitamin e deficiency 70.6 3 17112370 (1), 16193447 (1), 19141356 (1)
    friedreich ataxia 69.5 5 15279807 (1), 17112370 (1), 16193447 (1), 19141356 (1)
    amyotrophic lateral sclerosis 66.5 4 19884310 (1), 19058054 (1)
    atrophy 61.7 2 18405395 (2)
    neurological disorders 27 2 19884310 (1)

    GeneTests: SETX
    Ataxia with Oculomotor Apraxia 2
    Amyotrophic Lateral Sclerosis

    Human Genome Epidemiology (HuGE) Navigator: SETX (4 documents)

    Export disorders for SETX 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 SETX gene, integrated from 9 sources (see all 76):
    (articles sorted by number of sources associating them with SETX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. (PubMed id 17096168)1, 2, 9 Bassuk A.G....Bennett C.L. (2007)
    2. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. (PubMed id 16717225)1, 2, 9 Asaka T.... Matsushima A. (2006)
    3. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (PubMed id 15106121)1, 2, 9 Chen Y.-Z.... Chance P.F. (2004)
    4. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. (PubMed id 17562789)1, 2, 9 Suraweera A.... Lavin M.F. (2007)
    5. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia- ocular apraxia 2. (PubMed id 14770181)1, 2, 9 Moreira M.-C.... Koenig M. (2004)
    6. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    10. 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)

    (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: 23064 HGNC: 445 AceView: KIAA0625 Ensembl:ENSG00000107290 euGenes: HUgn23064
    ECgene: SETX H-InvDB: SETX

    (According to HUGE)
    About This Section
    HUGE: KIAA0625

    (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 SETX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SETX

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

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



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