DIAPH2

diaphanous related formin 2

Ensembl:
ENSG00000147202
UniProt:
O60879
OMIM:
300108
Synonyms:
DIA, DIA2, POF, POF2

Cilia effects upon perturbation of DIAPH2

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Abnormal / altered cilia

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 circulating phosphate level

Subcellular localization

basal body, cytosol, microtubules

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cilia length regulation

Function

Mutation in DIAPH2 in humans is linked to premature ovarian failure (POF) (26175800), and other defects in ciliogenesis have been linked to POF(21940798) . DIAPH2 and DIAPH3 have role in ciliogenesis and cilia mainte nce and depletion of DIAPH2 and DIAPH3 caused impaired ciliogenesis, decreases in cilia length, and decreases in IFT20 or Rab11 recruitment to the ciliary base(33872598).