ATXN2 (ataxin 2)

2013-02-01  

Identity

HGNC
ATXN2
LOCATION
12q24.12
LOCUSID
6311
ALIAS
ATX2,SCA2,TNRC13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6311
MIM: 601517
HGNC: 10555
Ensembl: ENSG00000204842

Variants:

dbSNP: 6311
ClinVar: 6311
TCGA: ENSG00000204842
COSMIC: ATXN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204842ENST00000389153F8WB06
ENSG00000204842ENST00000389154F8WB05
ENSG00000204842ENST00000475132S4R3R6
ENSG00000204842ENST00000483311H0YH87
ENSG00000204842ENST00000492467F8W0B5
ENSG00000204842ENST00000535949Q99700
ENSG00000204842ENST00000542287F8VQP2
ENSG00000204842ENST00000550104Q99700
ENSG00000204842ENST00000550236F8VRK6
ENSG00000204842ENST00000550844F8VZC1
ENSG00000204842ENST00000551755S4R3J6
ENSG00000204842ENST00000608853V9GY86
ENSG00000204842ENST00000616825Q99700
ENSG00000204842ENST00000642389A0A2R8Y7E6
ENSG00000204842ENST00000643474A0A2R8YGV1
ENSG00000204842ENST00000643669A0A2R8Y5A6
ENSG00000204842ENST00000643694A0A2R8Y6W7
ENSG00000204842ENST00000644883A0A2R8Y7P6
ENSG00000204842ENST00000647305A0A2R8YDM9
ENSG00000204842ENST00000647445A0A2R8YCG6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
oral mucosa
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
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383402192024Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort.0
387682172024Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.0
383402192024Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort.0
387682172024Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.0
381280142023ATXN2 is a target of N-terminal proteolysis.2
381280142023ATXN2 is a target of N-terminal proteolysis.2
349958012022ATXN2-mediated translation of TNFR1 promotes esophageal squamous cell carcinoma via m(6)A-dependent manner.14
352325552022VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.1
355218892022ATXN2 intermediate expansions in amyotrophic lateral sclerosis.13
362133242022ATXN2-Mediated PI3K/AKT Activation Confers Gastric Cancer Chemoresistance and Attenuates CD8(+) T Cell Cytotoxicity.1
349958012022ATXN2-mediated translation of TNFR1 promotes esophageal squamous cell carcinoma via m(6)A-dependent manner.14
352325552022VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.1
355218892022ATXN2 intermediate expansions in amyotrophic lateral sclerosis.13
362133242022ATXN2-Mediated PI3K/AKT Activation Confers Gastric Cancer Chemoresistance and Attenuates CD8(+) T Cell Cytotoxicity.1
330583382021A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS.6

Citation

Dessen P

ATXN2 (ataxin 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53189