ARL2BP

ARF like GTPase 2 binding protein

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000102931
UniProt:
Q9Y2Y0
OMIM:
615407
Synonyms:
BART, BART1, RP66

Cilia effects upon perturbation of ARL2BP

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

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.06) 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:
abnormal optic disk morphology, abnormal bone structure, decreased bone mineral content, abnormal snout morphology, decreased exploration in new environment
Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa with or without situs inversus

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Male Infertility
  • Retinal Dystrophy/Degeneration
  • Visceral Heterotaxy / Situs Inversus

References: PMID:31425546, PMID:23849777, PMID:29718757, PMID:38649918, PMID:36507858

Subcellular localization

basal body, centrosome, nucleus

References: PMID:41005307, PMID:29718757

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Needed for normal photoreceptor cilia doublets and outer segment structure)(29718757).