AFG3L2

AFG3 like matrix AAA peptidase subunit 2

Ensembl:
ENSG00000141385
UniProt:
Q9Y4W6
OMIM:
604581
Synonyms:
SCA28, SPAX5

Cilia effects upon perturbation of AFG3L2

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.12) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=635, lfc=-0.62) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia type 28; spastic ataxia 5; Early-onset spastic ataxia-neuropathy syndrome

Subcellular localization

flagella, mitochondria

Functional category

  • Metabolism
  • Protein processing & maturation
  • Cardiac & muscle development

Function

AFG3L2 has localized in flagella.