RABL2A: RAB, Member of RAS Oncogene Family-Like 2A
A small GTPase involved in ciliary transport and spermatogenesis
Gene Information Card
| Symbol | RABL2A |
|---|---|
| Full Name | RAB, member of RAS oncogene family-like 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 2q14.1 |
| NCBI Gene ID | 11159 ncbi.nlm.nih.gov/gene/11159 |
| Ensembl ID | ENSG00000115170 |
| UniProt ID | Q9H0I2 |
| OMIM ID | 605413 |
| HGNC ID | 30238 |
| Aliases | RABL2, RABL2A |
Description
RABL2A encodes a member of the RAB-like small GTPase family. The protein localizes to cilia and flagella and is essential for intraflagellar transport and spermatogenesis. Mutations in RABL2A are associated with male infertility and ciliary dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Defective intraflagellar transport due to RABL2A loss-of-function variants | ClinVar, OMIM |
| Primary ciliary dyskinesia (possible) | Impaired ciliary motility and assembly | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 6.8 | Medium |
| Brain (cerebellum) | 5.2 | Medium |
| Lung | 3.1 | Low |
| Kidney | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 (retinal pigment epithelium) | 8.5 | Ciliated cell model |
| HeLa (cervical carcinoma) | 4.2 | Moderate expression |
| HEK293 (embryonic kidney) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Rare | Loss of ciliary localization |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
| c.464_465del (p.Leu155fs) | Frameshift | Not reported | Truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating variants impair GTP binding and ciliary targeting.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • Cilium assembly (GO:0060271) | • Intraflagellar transport (GO:0035720) |
| • Spermatid development (GO:0007286) |
Pathways
• Intraflagellar transport (Reactome: R-HSA-5620920)
• Cargo trafficking in cilia (Reactome: R-HSA-5620916)
Protein Summary
RABL2A is a 223-amino-acid small GTPase that cycles between GDP-bound (inactive) and GTP-bound (active) states. It localizes to the base and axoneme of cilia and flagella, where it regulates the transport of cargo proteins. In testis, RABL2A is required for sperm flagellum formation and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RABL2A Knockout HEK293 Cell Line | EDJ-KQ51049 | Human | 11159 | Details Get a Quote |
| RABL2A Knockout HeLa Cell Line | EDJ-KQ55589 | Human | 11159 | Details Get a Quote |
| RABL2A Knockout A-549 Cell Line | EDJ-KQ64085 | Human | 11159 | Details Get a Quote |
| RABL2A Knockout HCT 116 Cell Line | EDJ-KQ72535 | Human | 11159 | Details Get a Quote |
