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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SETX
senataxin
Chromosome 9 · 9q34.13
NCBI Gene: 23064Ensembl: ENSG00000107290.15HGNC: HGNC:445UniProt: Q7Z333
144PubMed Papers
22Diseases
0Drugs
117Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription termination site sequence-specific DNA bindingcellular response to oxidative stresspositive regulation of transcription by RNA polymerase IIpositive regulation of termination of DNA-templated transcriptionspinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2amyotrophic lateral sclerosis type 4Spinocerebellar ataxia with axonal neuropathy type 2genetic disorder
✦AI Summary

SETX (senataxin) is an ATP-dependent 5'→3' DNA/RNA helicase that preferentially unwinds RNA substrates, functioning primarily in R-loop resolution and transcription termination 1. The protein resolves R-loop RNA-DNA hybrids at G-rich pause sites downstream of polyadenylation sites, enabling XRN2 recruitment for efficient RNA polymerase II transcription termination 2. SETX also regulates mRNA splicing efficiency and modulates RNA Pol II chr9 binding through interactions with transcription-associated proteins 2. Beyond transcription, SETX participates in DNA damage responses through R-loop metabolism and associates with the RNA exosome complex at transcription-induced damage sites 3. Disease relevance is substantial: mutations in SETX cause two distinct neurodegenerative disorders—dominant mutations cause juvenile-onset amyotrophic lateral sclerosis 4 (ALS4) with slow progression, while recessive mutations cause ataxia with oculomotor apraxia type 2 (AOA2) 4. ALS4-mutant mice exhibit clonally expanded CD8 T cell responses correlating with motor neuron degeneration, implicating immune dysfunction in pathogenesis 4. SETX depletion impairs autophagy progression, causing ubiquitinated protein accumulation and mitochondrial defects—mechanisms observed in AOA2 patient fibroblasts 2. Additionally, aberrant R-loop accumulation following SETX loss triggers innate immune activation through cytoplasmic RNA-DNA hybrid formation, contributing to neurodegeneration 3.

Sources cited
1
SETX is a helicase that resolves R-loops using ATP-driven unwinding activity
PMID: 37778731
2
SETX regulates transcription termination, mRNA splicing, and autophagy pathway genes; SETX depletion impairs autophagy and causes protein aggregate accumulation
PMID: 32686621
3
SETX depletion causes aberrant R-loop processing and cytoplasmic RNA-DNA hybrid accumulation that activates innate immune responses leading to apoptosis
PMID: 36544021
4
SETX mutations cause ALS4 with clonally expanded CD8 T cells and motor neuron degeneration; immune system has key role in ALS4 neurodegeneration
PMID: 35732742
5
SETX mutations are among the most frequently identified causes of autosomal recessive cerebellar ataxia with oculomotor apraxia
PMID: 29482223
6
SETX assists RNA polymerase II in nucleoli to generate R-loop shields at rRNA genes, supporting ribosome biogenesis
PMID: 32669707
Disease Associationsⓘ22
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2Open Targets
0.82Strong
amyotrophic lateral sclerosis type 4Open Targets
0.79Strong
Spinocerebellar ataxia with axonal neuropathy type 2Open Targets
0.67Moderate
genetic disorderOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
distal hereditary motor neuropathyOpen Targets
0.41Moderate
cerebellar ataxiaOpen Targets
0.41Moderate
amyotrophic lateral sclerosisOpen Targets
0.38Weak
frontotemporal dementiaOpen Targets
0.36Weak
spastic ataxiaOpen Targets
0.35Weak
Abnormal central motor functionOpen Targets
0.34Weak
Ataxia - oculomotor apraxia type 1Open Targets
0.31Weak
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaOpen Targets
0.31Weak
cerebral palsyOpen Targets
0.27Weak
cardiac transplantOpen Targets
0.26Weak
Cerebellar atrophyOpen Targets
0.26Weak
DysdiadochokinesisOpen Targets
0.26Weak
DysmetriaOpen Targets
0.26Weak
NystagmusOpen Targets
0.26Weak
Slurred speechOpen Targets
0.26Weak
Amyotrophic lateral sclerosis 4UniProt
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2UniProt
Pathogenic Variants117
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2026→ Residue 778
NM_015046.7(SETX):c.23C>T (p.Thr8Met)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 8
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Cerebellar ataxia|Amyotrophic lateral sclerosis|Abnormal central motor function|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|SETX-related disorder
★★☆☆2025→ Residue 1770
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Inborn genetic diseases|not provided|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|SETX-related disorder
★★☆☆2025→ Residue 1363
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)Pathogenic
not provided|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 1774
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)Pathogenic
not provided|Inborn genetic diseases|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 1864
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 111
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 1618
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|not provided
★★☆☆2025→ Residue 1976
NM_015046.7(SETX):c.6843-3_6843-1delLikely pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)Pathogenic
Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 796
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)Pathogenic
SETX-related disorder|not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 2374
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 1750
NM_015046.7(SETX):c.5264del (p.Thr1755fs)Pathogenic
Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 1755
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)Pathogenic
not provided|SETX-related disorder
★★☆☆2025→ Residue 1756
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2024→ Residue 1778
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)Pathogenic
7 conditions|not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2024→ Residue 1742
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)Likely pathogenic
Amyotrophic lateral sclerosis type 4|not provided|Distal spinal muscular atrophy
★★☆☆2024→ Residue 3
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)Pathogenic
not provided|Inborn genetic diseases|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2024→ Residue 2243
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|not provided
★★☆☆2023→ Residue 2108
View on ClinVar ↗
Related Genes
BRCA1Protein interaction99%NRDCProtein interaction96%SCAF8Protein interaction95%APTXProtein interaction95%SCAF4Protein interaction93%ALS2Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
96%
Lung
95%
Ovary
74%
Liver
74%
Heart
73%
Gene Interaction Network
Click a node to explore
SETXBRCA1NRDCSCAF8APTXSCAF4ALS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z333
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.37 [0.31–0.44]
RankingsWhere SETX stands among ~20K protein-coding genes
  • #3,177of 20,598
    Most Researched144 · top quartile
  • #664of 5,498
    Most Pathogenic Variants117 · top quartile
  • #2,418of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedSETX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response.
PMID: 36544021
Nature · 2023
1.00
2
Helicases in R-loop Formation and Resolution.
PMID: 37778731
J Biol Chem · 2023
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.80
4
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
PMID: 35732742
Nature · 2022
0.70
5
Catalytically inactive, purified RNase H1: A specific and sensitive probe for RNA-DNA hybrid imaging.
PMID: 34232287
J Cell Biol · 2021
0.60