STX3

syntaxin 3

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000166900
UniProt:
Q13277
OMIM:
600876
Synonyms:
STX3A

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.28) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
embryonic lethality prior to organogenesis, increased grip strength, embryonic lethality prior to tooth bud stage, preweaning lethality, complete penetrance

Subcellular localization

cilia

References: PMID:19454479, PMID:31694913, PMID:26216965

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane

Function

Major partner for SNAP25 in photoreceptor cells and regulates rhodopsin delivery by mediating docking and fusion of rhodopsin transport carriers, expansion of the ciliary membrane and rod outer segments biogenesis (19454479). Mislocalises to the outer segment in Bardet-Biedl syndrome (31694913, 26216965).