ARL2BP
ADP Ribosylation Factor Like GTPase 2 Binding Protein
Gene Information Card
| Symbol | ARL2BP |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 2 Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 23568 ncbi.nlm.nih.gov/gene/23568 |
| Ensembl ID | ENSG00000102931 |
| UniProt ID | Q9Y2Y0 |
| OMIM ID | 615407 |
| HGNC ID | 17146 |
| Aliases | ARF-like 2 binding protein, BART, Binder of ARL2 |
Description
ARL2BP (ADP Ribosylation Factor Like GTPase 2 Binding Protein) encodes a protein that binds to ARL2 (ADP-ribosylation factor-like 2) and is involved in ciliary transport and microtubule dynamics. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa (RP) and other ciliopathies. The protein localizes to the photoreceptor connecting cilium and is essential for maintaining ciliary structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations disrupt ARL2 binding, impairing ciliary transport and leading to photoreceptor degeneration. | ClinVar, OMIM #615407 |
| Ciliopathy (general) | Defective ARL2BP impairs ciliary assembly and function, contributing to syndromic ciliopathy phenotypes. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Retina | 10.2 | Medium |
| Brain | 6.8 | Low |
| Lung | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 8.1 | Retinal cell line |
| HeLa | 5.6 | Cervical cancer cell line |
| HEK293 | 4.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.2T>C (p.Met1?) | Start loss | Rare | No protein translation |
| c.278_279del (p.Glu93Valfs*2) | Frameshift | Rare | Truncated protein, loss of ARL2 binding |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to truncated or absent protein, impairing ciliary function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Protein binding |
| • Cilium assembly | • Intracellular protein transport |
| • Photoreceptor cell maintenance |
Pathways
• Ciliary transport
• ARL2 signaling pathway
Protein Summary
ARL2BP is a 163-amino-acid protein that binds specifically to ARL2, a small GTPase. It acts as a GTPase-activating protein (GAP) for ARL2, regulating its activity in ciliary trafficking and microtubule organization. The protein is highly expressed in the retina and testis, consistent with its role in photoreceptor cilia. Loss of ARL2BP leads to disrupted ciliary transport and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL2BP Knockout HEK293 Cell Line | EDJ-KQ51118 | Human | 23568 | Details Get a Quote |
| ARL2BP Knockout HeLa Cell Line | EDJ-KQ55774 | Human | 23568 | Details Get a Quote |
| ARL2BP Knockout A-549 Cell Line | EDJ-KQ64269 | Human | 23568 | Details Get a Quote |
| ARL2BP Knockout HCT 116 Cell Line | EDJ-KQ72715 | Human | 23568 | Details Get a Quote |
