ATXN2

ataxin 2

Ensembl:
ENSG00000204842
UniProt:
Q99700
OMIM:
601517
Synonyms:
ATX2, SCA2, TNRC13

Cilia effects upon perturbation of ATXN2

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.31) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=767, lfc=0.39) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia type 2

Ciliopathy associations

  • Spinocerebellar Ataxia

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the ATXN2 gene cause Spinocerebellar Ataxia (PMID: 8896555).