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
217002242011Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.262
151061212004DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).202
147701812004Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.135
256997102015BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair.116
229809782012Microprocessor, Setx, Xrn2, and Rrp6 co-operate to induce premature termination of transcription by RNAPII.78
231499452013Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.71
175627892007Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.65
175627892007Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195158502009Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.47

Citation

Dessen P

SETX (senataxin)

Atlas Genet Cytogenet Oncol Haematol. 2007-08-01

Online version: http://atlasgeneticsoncology.org/gene/47714/setx