ATXN2 (ataxin 2)

2013-02-01  

Identity

HGNC
LOCATION
12q24.12
LOCUSID
ALIAS
ATX2,SCA2,TNRC13
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194304792009Genome-wide association study of blood pressure and hypertension.542
207400072010Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.381
203831462010New loci associated with kidney function and chronic kidney disease.337
271030692016Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.119
267522652016Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.70
168352622006Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes.67
216101602011Ataxin-2 repeat-length variation and neurodegeneration.61
210608632010Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.57
253820692015Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.53
215622472011Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.51

Citation

Dessen P

ATXN2 (ataxin 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53189/atxn2