RABL2B Gene
RAB, Member of RAS Oncogene Family-Like 2B
Gene Information Card
| Symbol | RABL2B |
|---|---|
| Full Name | RAB, member of RAS oncogene family-like 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 11158 ncbi.nlm.nih.gov/gene/11158 |
| Ensembl ID | ENSG00000100225 |
| UniProt ID | Q9H0N0 |
| OMIM ID | 608516 |
| HGNC ID | 30250 |
| Aliases | RABL2, RABL2B, MGC:26692 |
Description
RABL2B is a protein-coding gene that belongs to the RAB subfamily of small GTPases. It is located on chromosome 22q13.33 and encodes a 214-amino acid protein. RABL2B is involved in intracellular vesicle trafficking and may play a role in ciliary transport. The gene is broadly expressed in various tissues, with highest levels in testis and brain. Mutations in RABL2B have been associated with male infertility and spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss-of-function mutations impair vesicle trafficking in sperm flagella | ClinVar, OMIM |
| Male infertility | Disruption of RABL2B leads to defective sperm motility | OMIM #608516 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Brain | 18.2 | Medium |
| Lung | 12.1 | Medium |
| Liver | 8.4 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 10.7 | Moderate expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of GTPase activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in RABL2B.
Dominant Negative (DN)
Not reported for RABL2B.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • cilium assembly |
| • vesicle-mediated transport |
Pathways
• Vesicle trafficking (RAB family)
• Ciliary transport
Protein Summary
RABL2B is a small GTPase of the RAB family, localized to the Golgi apparatus and ciliary base. It cycles between active GTP-bound and inactive GDP-bound states, regulating vesicle docking and fusion. The protein is essential for spermatogenesis and ciliary function. Its structure includes conserved switch I and switch II regions critical for nucleotide binding and effector interaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RABL2B Knockout HEK293 Cell Line | EDJ-KQ7307 | Human | 11158 | Details Get a Quote |
| RABL2B Knockout A-549 Cell Line | EDJ-KQ32358 | Human | 11158 | Details Get a Quote |
| RABL2B Knockout HCT 116 Cell Line | EDJ-KQ32359 | Human | 11158 | Details Get a Quote |
| RABL2B Knockout HeLa Cell Line | EDJ-KQ32360 | Human | 11158 | Details Get a Quote |
