PTPN23

protein tyrosine phosphatase non-receptor type 23

Ensembl:
ENSG00000076201
UniProt:
Q9H3S7
OMIM:
606584
Synonyms:
DKFZP564F0923, HD-PTP, KIAA1471

Cilia effects upon perturbation of PTPN23

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Unkown
Overexpression effect:
Unkown

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.64) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.81) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, increased circulating hdl cholesterol level, increased circulating alkaline phosphatase level, increased circulating cholesterol level
Mouse ciliopathy phenotype:
abnormal lens morphology, abnormal reti morphology
Human ciliopathy phenotype:
neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

PTPN23 has localized in basal body.