RAB39B
RAB39B, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB39B |
|---|---|
| Full Name | RAB39B, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 116442 ncbi.nlm.nih.gov/gene/116442 |
| Ensembl ID | ENSG00000155961 |
| UniProt ID | Q96DA2 |
| OMIM ID | 300774 |
| HGNC ID | 30283 |
| Aliases | RAB39B, RAB39Bv1, RAB39Bv2 |
Description
RAB39B is a member of the RAS oncogene family of small GTPases, involved in vesicular trafficking, particularly in neurons. It regulates endosomal and autophagic pathways, and mutations are linked to X-linked intellectual disability and early-onset Parkinson disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability (XLID) | Loss-of-function mutations impair synaptic vesicle trafficking and neuronal development | OMIM #300774; PMID: 20613862 |
| Parkinson disease 3 (PARK3) | Missense and truncating mutations disrupt autophagy and mitochondrial homeostasis | OMIM #300774; PMID: 25188341 |
| Waisman syndrome | RAB39B mutations cause a syndromic form of intellectual disability with early-onset Parkinsonism | OMIM #300774; PMID: 25188341 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuronal model |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.503G>A (p.Trp168*) | Nonsense | Rare | Loss of function; truncated protein |
| c.215C>T (p.Thr72Ile) | Missense | Rare | Impaired GTP binding and hydrolysis |
| c.574C>T (p.Arg192*) | Nonsense | Rare | Loss of function; associated with Parkinson disease |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing vesicle trafficking.
Gain of Function (GOF)
Not reported for RAB39B.
Dominant Negative (DN)
Missense mutations (e.g., p.Thr72Ile) may interfere with wild-type RAB39B function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • endosome to lysosome transport |
| • autophagy | • synaptic vesicle cycle |
Pathways
• Endocytosis
• Autophagy
• RAB-mediated vesicle trafficking
Protein Summary
RAB39B is a small GTPase that cycles between active GTP-bound and inactive GDP-bound states. It regulates endosomal trafficking, autophagosome formation, and synaptic vesicle recycling. Mutations cause neuronal dysfunction and are linked to X-linked intellectual disability and Parkinson disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB39B Knockout HEK293 Cell Line | EDJ-KQ7569 | Human | 116442 | Details Get a Quote |
| RAB39B Knockout A-549 Cell Line | EDJ-KQ32878 | Human | 116442 | Details Get a Quote |
| RAB39B Knockout HeLa Cell Line | EDJ-KQ57986 | Human | 116442 | Details Get a Quote |
| RAB39B Knockout HCT 116 Cell Line | EDJ-KQ74895 | Human | 116442 | Details Get a Quote |
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