SH3PXD2A

SH3 and PX domains 2A

Ensembl:
ENSG00000107957
UniProt:
Q5TCZ1
OMIM:
619455
Synonyms:
FISH, KIAA0418, SH3MD1

Cilia effects upon perturbation of SH3PXD2A

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.87) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, increased circulating alkaline phosphatase level

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

SH3PXD2A has localized in ciliary tip, primary cilia.