ARL13B
ADP Ribosylation Factor Like GTPase 13B
Gene Information Card
| Symbol | ARL13B |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 13B |
| Gene Type | protein-coding |
| Chromosomal Location | 3q11.2 |
| NCBI Gene ID | 200894 ncbi.nlm.nih.gov/gene/200894 |
| Ensembl ID | ENSG00000169379 |
| UniProt ID | Q3SXY8 |
| OMIM ID | 608922 |
| HGNC ID | 25486 |
| Aliases | JBTS8, ARL2L1, ciliary GTPase |
Description
ARL13B encodes a member of the ADP-ribosylation factor-like family of small GTPases. The protein is localized to primary cilia and is essential for ciliary function, including ciliary membrane composition and signaling. Mutations in ARL13B cause Joubert syndrome type 8 (JBTS8), a ciliopathy characterized by cerebellar vermis hypoplasia, retinal dystrophy, and renal disease. ARL13B is also implicated in Hedgehog signaling and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 8 (JBTS8) | Loss-of-function mutations impair ciliary GTPase activity and disrupt ciliary signaling, leading to cerebellar and retinal defects. | Multiple reports in OMIM and ClinVar |
| Renal disease (nephronophthisis-like) | Ciliary dysfunction due to ARL13B mutations affects renal tubule development and function. | Case studies in literature and ClinVar |
| Retinal dystrophy | Defective ciliary transport in photoreceptor cells leads to progressive vision loss. | Clinical evidence in Joubert syndrome cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Kidney | 6.1 | Low |
| Retina | 5.8 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 10.1 | Ciliated epithelial cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| SH-SY5Y | 6.2 | Neuroblastoma cells |
| HeLa | 4.8 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; truncation of GTPase domain |
| c.397G>A (p.Gly133Arg) | Missense | Rare | Impaired GTP binding and ciliary localization |
| c.535C>T (p.Arg179Trp) | Missense | Rare | Reduced ciliary targeting and signaling |
| c.668_669del (p.Glu223Valfs*2) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most ARL13B mutations are loss-of-function, leading to reduced GTPase activity, impaired ciliary localization, and disrupted Hedgehog signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with wild-type ARL13B function in cilia.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Cilium assembly (Reactome: R-HSA-5617833)
• Intraflagellar transport (Reactome: R-HSA-5620920)
Protein Summary
ARL13B is a small GTPase of the ARF family, highly conserved in ciliated organisms. The protein localizes to the ciliary membrane and axoneme, where it regulates ciliary membrane composition, intraflagellar transport, and Hedgehog signal transduction. ARL13B contains an N-terminal GTPase domain and a C-terminal coiled-coil region. It is essential for proper ciliary function in multiple tissues, including brain, kidney, and retina. Mutations cause Joubert syndrome and related ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL13B Knockout HEK293 Cell Line | EDJ-KQ3226 | Human | 200894 | Details Get a Quote |
| ARL13B Knockout A-549 Cell Line | EDJ-KQ24730 | Human | 200894 | Details Get a Quote |
| ARL13B Knockout HCT 116 Cell Line | EDJ-KQ24731 | Human | 200894 | Details Get a Quote |
| ARL13B Knockout HeLa Cell Line | EDJ-KQ24732 | Human | 200894 | Details Get a Quote |
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