PIH1D2

PIH1 domain containing 2

Ensembl:
ENSG00000150773
UniProt:
Q8WWB5
Synonyms:
DNAAF15

Cilia effects upon perturbation of PIH1D2

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.67) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Male Infertility

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Protein processing & maturation

Function

PIH1D2 has localized in basal body.

Model organism evidence

Danio rerio (1 reference)

Construction of motile cilia/flagella requires cytoplasmic preassembly of axonemal dyneins before transport into cilia.

PMIDs: 29741156