ATXN10 (ataxin 10)

2014-11-01  

Identity

HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
E46L,HUMEEP,SCA10
FUSION GENES

Other Information

Locus ID:

NCBI: 25814
MIM: 611150
HGNC: 10549
Ensembl: ENSG00000130638

Variants:

dbSNP: 25814
ClinVar: 25814
TCGA: ENSG00000130638
COSMIC: ATXN10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130638ENST00000252934Q9UBB4
ENSG00000130638ENST00000381061Q9UBB4
ENSG00000130638ENST00000402380B1AHE3
ENSG00000130638ENST00000435026B1AHE4
ENSG00000130638ENST00000640901A0A1W2PQD2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
215656112011Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.261
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
205489522010Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.53
163854552006Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?29
178461222007Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.24
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.19
243184202014Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.16
262959432015SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.16
192345972009Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).15
218571492011Phosphorylation of Ataxin-10 by polo-like kinase 1 is required for cytokinesis.11

Citation

Dessen P

ATXN10 (ataxin 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60656/atxn10