ATXN7

ataxin 7

Ensembl:
ENSG00000163635
UniProt:
O15265
OMIM:
607640
Synonyms:
ADCAII, OPCA3, SCA7, SGF73

Cilia effects upon perturbation of ATXN7

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect 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=907, lfc=0.38) PMID:30270045

Phenotypes

Mouse phenotype:
increased bone mineral content, abnormal bone structure
Human ciliopathy phenotype:
spinocerebellar ataxia 7

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

basal body, cilia, microtubules, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

ATXN7 localizes to basal body and cilia in mammalian cells (YT, unpublished data, PMID: 31432449).