PTCH2

patched 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000117425
UniProt:
Q9Y6C5
OMIM:
603673
Synonyms:
SLC65B2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.79) 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 lymphocyte cell number, enlarged uriry bladder, increased fasting circulating glucose level, increased neutrophil cell number

Ciliopathy associations

  • Medulloblastoma

References: PMID:9931336

Subcellular localization

cilia, lysosomes

References: PMID:23900540

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Although HHIP1 functions semi-redundantly with PTCH1 to restrict HH signaling in the developing nervous system, a role for PTCH2 remains unresolved. PTCH2 has a ciliary localization as a HH pathway antagonist (23900540).