ZNF513

zinc finger protein 513

Ensembl:
ENSG00000163795
UniProt:
Q8N8E2
OMIM:
613598
Synonyms:
FLJ32203, RP58, ZFP513

Cilia effects upon perturbation of ZNF513

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
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased leukocyte cell number, decreased circulating bilirubin level, decreased mean corpuscular volume, increased circulating alkaline phosphatase level, increased circulating glucose level
Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the ZNF513 gene cause Retinitis Pigmentosa (PMID: 20797688).