SETX (senataxin)

2007-08-01  

Identity

HGNC
SETX
LOCATION
9q34.13
LOCUSID
23064
ALIAS
ALS4,AOA2,SCAN2,SCAR1,Sen1,bA479K20.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23064
MIM: 608465
HGNC: 445
Ensembl: ENSG00000107290

Variants:

dbSNP: 23064
ClinVar: 23064
TCGA: ENSG00000107290
COSMIC: SETX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107290ENST00000224140Q7Z333
ENSG00000107290ENST00000436441X6RI79

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387173382024Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation.0
387173382024Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation.0
368646602023Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor.10
378325482023Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.2
381091762023Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.0
368646602023Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor.10
378325482023Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.2
381091762023Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.0
350427982022Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.9
350451612022Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.17
352354522022ΔNp63-Senataxin circuit controls keratinocyte differentiation by promoting the transcriptional termination of epidermal genes.11
362711022022Transcriptional targets of senataxin and E2 promoter binding factors are associated with neuro-degenerative pathways during increased autophagic flux.1
365438512022FANCD2 promotes mitotic rescue from transcription-mediated replication stress in SETX-deficient cancer cells.5
350427982022Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.9
350451612022Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.17

Citation

Dessen P

SETX (senataxin)

Atlas Genet Cytogenet Oncol Haematol. 2007-08-01

Online version: http://atlasgeneticsoncology.org/gene/47714/setx-(senataxin)