ARL13B

ARF like GTPase 13B

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000169379
UniProt:
Q3SXY8
OMIM:
608922
Synonyms:
ARL2L1, DKFZP761H079, JBTS8

Cilia effects upon perturbation of ARL13B

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Longer cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.72) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=598, lfc=-3.70) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome; Joubert syndrome 8

Ciliopathy associations

  • Joubert Syndrome

References: PMID:18674751, PMID:25138100, PMID:23023437

Subcellular localization

cilia, transition zone, basal body

References: PMID:41005307, PMID:18674751, PMID:20231383, PMID:20530210, PMID:21976698, PMID:23150559, PMID:22554696

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Cell migration & adhesion
  • Ciliary membrane

Function

Mutated in Joubert Syndrome (type 8) (OMIM 608922, 18674751). In proximal ciliary membrane (PMID:20231383). Role in IFT and therefore ciliogenesis (PMID:20530210). Necessary for normal Shh (PMID:21976698) and INPP5E signalling (PMID:23150559) and normal expression of Nodal and Cerl2 (PMID:22554696).