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Aliases for SETX Gene

Aliases for SETX Gene

  • Senataxin 2 3 4 5
  • Amyotrophic Lateral Sclerosis 4 Protein 3 4
  • SEN1 Homolog 3 4
  • SCAR1 3 4
  • ALS4 3 4
  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 2
  • Amyotrophic Lateral Sclerosis 4 2
  • Probable Helicase Senataxin 3
  • BA479K20.2 3
  • EC 3.6.4.- 4
  • KIAA0625 4
  • EC 3.6.1 56
  • SEN1 3
  • AOA2 3

External Ids for SETX Gene

Previous HGNC Symbols for SETX Gene

  • ALS4
  • SCAR1

Previous GeneCards Identifiers for SETX Gene

  • GC09M132170
  • GC09M134129
  • GC09M135136
  • GC09M104630

Summaries for SETX Gene

Entrez Gene Summary for SETX Gene

  • 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]

GeneCards Summary for SETX Gene

SETX (Senataxin) is a Protein Coding gene. Diseases associated with SETX include Amyotrophic Lateral Sclerosis 4, Juvenile and Spinocerebellar Ataxia, Autosomal Recessive 1. Among its related pathways are Circadian rythm related genes and Interactome of polycomb repressive complex 2 (PRC2). Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription termination site sequence-specific DNA binding. An important paralog of this gene is AQR.

UniProtKB/Swiss-Prot for SETX Gene

  • Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3 transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).

Gene Wiki entry for SETX Gene

Additional gene information for SETX Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETX Gene

Genomics for SETX Gene

GeneHancer (GH) Regulatory Elements for SETX Gene

Promoters and enhancers for SETX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I132349 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 567.4 +4.0 4010 7.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 SETX TTF1 GC09M132284
GH09I132356 Enhancer 0.4 ENCODE 550.8 +0.1 137 0.2 KLF9 ZBTB33 GC09P132358 SETX GC09M132284
GH09I133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 81.5 -674.0 -673981 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTF3C5 LOC105376306 SETX TTF1 MED22 DDX31 TSC1 GTF3C4 BRD3OS SPACA9
GH09I132977 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 54.6 -621.3 -621349 2 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF143 DEK SP5 REST GFI1B SETX GTF3C5 RPL7A MED22 EEF1A1P5 TSC1 SURF4 AK8 GC09P132965
GH09I132943 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 45.8 -587.8 -587809 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC TSC1 GFI1B MIR548AW SETX MED22 GTF3C5 TTF1 DDX31 MED27 RPL7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SETX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SETX gene promoter:

Genomic Locations for SETX Gene

Genomic Locations for SETX Gene
chr9:132,261,356-132,356,726
(GRCh38/hg38)
Size:
95,371 bases
Orientation:
Minus strand
chr9:135,136,743-135,230,372
(GRCh37/hg19)

Genomic View for SETX Gene

Genes around SETX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETX Gene

Proteins for SETX Gene

  • Protein details for SETX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z333-SETX_HUMAN
    Recommended name:
    Probable helicase senataxin
    Protein Accession:
    Q7Z333
    Secondary Accessions:
    • A2A396
    • B2RPB2
    • B5ME16
    • C9JQ10
    • O75120
    • Q3KQX4
    • Q5JUJ1
    • Q68DW5
    • Q6AZD7
    • Q7Z3J6
    • Q8WX33
    • Q9H9D1
    • Q9NVP9

    Protein attributes for SETX Gene

    Size:
    2677 amino acids
    Molecular mass:
    302880 Da
    Quaternary structure:
    • Homodimer (PubMed:24244371). Interacts with PER2; the interaction inhibits termination of circadian target genes (By similarity). Interacts with CHD4, POLR2A, PRKDC and TRIM28 (PubMed:23149945). Does not interact with C14orf178 (PubMed:24244371). Interacts with UBE2I (PubMed:24105744). Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation (PubMed:24105744). Interacts with NCL (via N-terminus domain) (PubMed:19515850). Interacts with PABPN1, PABPC1 and SF3B1 (PubMed:19515850). Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A (PubMed:19515850, PubMed:26700805).
    SequenceCaution:
    • Sequence=BAA91701.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14299.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97857.1; Type=Frameshift; Positions=1626; Evidence={ECO:0000305};

    Alternative splice isoforms for SETX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETX Gene

Selected DME Specific Peptides for SETX Gene

Q7Z333:
  • DRGIIVS
  • LTVQYRM
  • LVCAPSN
  • SPATDDA

Post-translational modifications for SETX Gene

Domains & Families for SETX Gene

Gene Families for SETX Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SETX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SETX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z333

UniProtKB/Swiss-Prot:

SETX_HUMAN :
  • The N-terminus domain is necessary for S/G2 nuclear foci localization (PubMed:23149945).
  • Belongs to the DNA2/NAM7 helicase family.
Domain:
  • The N-terminus domain is necessary for S/G2 nuclear foci localization (PubMed:23149945).
Family:
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with SETX: view

Function for SETX Gene

Molecular function for SETX Gene

UniProtKB/Swiss-Prot Function:
Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3 transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).

Enzyme Numbers (IUBMB) for SETX Gene

Phenotypes From GWAS Catalog for SETX Gene

Gene Ontology (GO) - Molecular Function for SETX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001147 transcription termination site sequence-specific DNA binding IDA 21700224
GO:0003677 DNA binding IC 17562789
GO:0003678 DNA helicase activity TAS 17562789
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with SETX: view
genes like me logo Genes that share phenotypes with SETX: view

Human Phenotype Ontology for SETX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SETX Gene

MGI Knock Outs for SETX:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for SETX Gene

Localization for SETX Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETX Gene

Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Chromosome. Chromosome, telomere. Cell projection, axon. Cell projection, growth cone. Note=May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945). Localizes at limited number of nuclear foci (PubMed:24105744). Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. {ECO:0000250 UniProtKB:A2AKX3, ECO:0000269 PubMed:17562789, ECO:0000269 PubMed:21112256, ECO:0000269 PubMed:21576111, ECO:0000269 PubMed:23149945, ECO:0000269 PubMed:24105744}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SETX gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Cytokinetic bridge (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SETX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 24105744
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA,IDA 17562789
GO:0005654 nucleoplasm IEA,IDA 17562789
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SETX: view

Pathways & Interactions for SETX Gene

genes like me logo Genes that share pathways with SETX: view

Pathways by source for SETX Gene

Gene Ontology (GO) - Biological Process for SETX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 21576111
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IDA 17562789
GO:0006310 DNA recombination IEA --
GO:0006353 DNA-templated transcription, termination IMP 26700805
genes like me logo Genes that share ontologies with SETX: view

No data available for SIGNOR curated interactions for SETX Gene

Drugs & Compounds for SETX Gene

(2) Additional Compounds for SETX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SETX: view

Transcripts for SETX Gene

Unigene Clusters for SETX Gene

Senataxin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SETX Gene

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: - - -
SP6: -
SP7:
SP8:

ExUns: 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SETX Gene

GeneLoc Exon Structure for
SETX
ECgene alternative splicing isoforms for
SETX

Expression for SETX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SETX Gene

Protein differential expression in normal tissues from HIPED for SETX Gene

This gene is overexpressed in Platelet (22.3), Liver (11.3), and Placenta (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SETX Gene



NURSA nuclear receptor signaling pathways regulating expression of SETX Gene:

SETX

SOURCE GeneReport for Unigene cluster for SETX Gene:

Hs.460317

mRNA Expression by UniProt/SwissProt for SETX Gene:

Q7Z333-SETX_HUMAN
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).

Evidence on tissue expression from TISSUES for SETX Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Eye(4.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SETX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with SETX: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SETX Gene

Orthologs for SETX Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SETX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SETX 33 34
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia SETX 33 34
  • 85.74 (n)
cow
(Bos Taurus)
Mammalia SETX 33 34
  • 83.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SETX 34
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Setx 33 16 34
  • 80.01 (n)
rat
(Rattus norvegicus)
Mammalia Setx 33
  • 79.5 (n)
oppossum
(Monodelphis domestica)
Mammalia SETX 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETX 33 34
  • 63.42 (n)
lizard
(Anolis carolinensis)
Reptilia SETX 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia setx 33
  • 56.86 (n)
zebrafish
(Danio rerio)
Actinopterygii setx 33 34
  • 50.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7504 34
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEN1 34 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 3 (a)
OneToOne
Species where no ortholog for SETX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SETX Gene

ENSEMBL:
Gene Tree for SETX (if available)
TreeFam:
Gene Tree for SETX (if available)

Paralogs for SETX Gene

Paralogs for SETX Gene

genes like me logo Genes that share paralogs with SETX: view

Variants for SETX Gene

Sequence variations from dbSNP and Humsavar for SETX Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs10491906 likely-benign, Amyotrophic Lateral Sclerosis, Dominant, Ataxia with Oculomotor Apraxia 132,263,015(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1056899 conflicting-interpretations-of-pathogenicity, benign, not specified, Ataxia with Oculomotor Apraxia, Amyotrophic Lateral Sclerosis, Dominant 132,264,514(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1056912 likely-benign, Amyotrophic Lateral Sclerosis, Dominant, Ataxia with Oculomotor Apraxia 132,263,920(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs112089123 likely-benign, benign, not specified, Ataxia with Oculomotor Apraxia, Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia autosomal recessive 1, Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] 132,326,938(-) A/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs112201716 benign, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia autosomal recessive 1 132,264,368(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SETX Gene

Variant ID Type Subtype PubMed ID
nsv509328 CNV insertion 20534489
nsv433506 CNV loss 18776910
nsv1142040 OTHER inversion 24896259
nsv1053340 CNV loss 25217958
nsv1041246 CNV gain 25217958
esv989756 CNV deletion 20482838
esv3621912 CNV loss 21293372
esv3573405 CNV loss 25503493
esv2739126 CNV deletion 23290073
esv1132189 CNV deletion 17803354

Variation tolerance for SETX Gene

Residual Variation Intolerance Score: 7.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.44; 81.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SETX Gene

Human Gene Mutation Database (HGMD)
SETX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SETX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETX Gene

Disorders for SETX Gene

MalaCards: The human disease database

(26) MalaCards diseases for SETX Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SETX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SETX_HUMAN
  • Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]: A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. 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 the cases. {ECO:0000269 PubMed:14770181, ECO:0000269 PubMed:15106121, ECO:0000269 PubMed:21190393, ECO:0000269 PubMed:24105744, ECO:0000269 PubMed:24244371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002]: 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. {ECO:0000269 PubMed:14770181, ECO:0000269 PubMed:16644229, ECO:0000269 PubMed:16717225, ECO:0000269 PubMed:17096168, ECO:0000269 PubMed:23566282, ECO:0000269 PubMed:23786967, ECO:0000269 PubMed:23941260, ECO:0000269 PubMed:24105744}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SETX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SETX: view

No data available for Genatlas for SETX Gene

Publications for SETX Gene

  1. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. (PMID: 17562789) Suraweera A … Lavin MF (The Journal of cell biology 2007) 3 4 22 58
  2. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. (PMID: 17096168) Bassuk AG … Bennett CL (Neurogenetics 2007) 3 4 22 58
  3. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. (PMID: 16717225) Asaka T … Matsushima A (Neurology 2006) 3 4 22 58
  4. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (PMID: 15106121) Chen YZ … Chance PF (American journal of human genetics 2004) 3 4 22 58
  5. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (PMID: 14770181) Moreira MC … Koenig M (Nature genetics 2004) 3 4 22 58

Products for SETX Gene

Sources for SETX Gene

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