CD2AP

CD2 associated protein

Ensembl:
ENSG00000198087
UniProt:
Q9Y5K6
OMIM:
604241
Synonyms:
CMS

Cilia effects upon perturbation of CD2AP

Loss-of-function effect:
Longer cilia
Overexpression effect:
No effect

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-12.41) 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:
decreased grip strength

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • T cell biology
  • ECM & connective tissue

Function

CD2AP/CIN85 proteins regulate ciliary length by remodeling the actin network (36754282).EHBP1L1- and CD2AP/CIN85-depleted cells had elongated cilia. The aberrantly elongated cilia phenotype and the ciliary localization defect of CD2AP/CIN85 in EHBP1L1-depleted cells were rescued by the expression of WT EHBP1L1, although this was not observed in the CD2AP/CIN85-binding-deficient mutant, indicating that the EHBP1L1-CD2AP/CIN85 interaction is crucial for controlling ciliary length(36754282).

Model organism evidence

Mus musculus (1 reference)

Some genetic kidney diseases (CAKUT, ciliopathies, tubulopathies) that result in secondary forms of FSGS also h

PMIDs: 37578539