ARL2BP
ARF like GTPase 2 binding protein
- 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
Subcellular localization
basal body, centrosome, nucleus
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).
Model organism evidence
Mus musculus (4 references)
Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies.
Inherited mutations in genes involved in ciliogenesis frequently result in OS malformation and blindness.