RHOBTB2 Gene
Rho Related BTB Domain Containing 2
Gene Information Card
| Symbol | RHOBTB2 |
|---|---|
| Full Name | Rho Related BTB Domain Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 23221 ncbi.nlm.nih.gov/gene/23221 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q9NY54 |
| OMIM ID | 607352 |
| HGNC ID | 18756 |
| Aliases | DBC2, RHOBTB2, RhoBTB2 |
Description
RHOBTB2 (Rho Related BTB Domain Containing 2) is a member of the Rho family of small GTPases. It contains a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain and acts as a tumor suppressor. The gene is frequently deleted or mutated in breast and lung cancers. RHOBTB2 is involved in actin cytoskeleton organization, cell cycle regulation, and vesicle trafficking. Mutations in RHOBTB2 are also associated with early-infantile epileptic encephalopathy and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of expression or deletion of RHOBTB2 promotes tumorigenesis; acts as a tumor suppressor | PMID: 11877375, COSMIC |
| Lung cancer | Frequent deletion and reduced expression in non-small cell lung cancer | PMID: 12471203 |
| Early-infantile epileptic encephalopathy | De novo missense mutations impair GTPase activity and lead to neuronal dysfunction | ClinVar, PMID: 29706646 |
| Neurodevelopmental disorder with hypotonia and seizures | Heterozygous mutations in RHOBTB2 cause developmental delay and epilepsy | ClinVar, OMIM 607352 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Breast | 5.1 | Low |
| Lung | 4.3 | Low |
| Kidney | 6.7 | Medium |
| Testis | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.8 | Reduced expression compared to normal breast |
| A549 (lung cancer) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 7.4 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 6.9 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.139C>T (p.Arg47Cys) | Missense | Rare | Gain-of-function; associated with epileptic encephalopathy |
| c.143G>A (p.Arg48His) | Missense | Rare | Gain-of-function; neurodevelopmental disorder |
| c.1A>G (p.Met1?) | Start loss | Somatic | Loss-of-function; breast cancer |
| Deletion of 8p21.3 | Copy number loss | Frequent in breast cancer | Loss of heterozygosity; tumor suppressor inactivation |
Mutation functional classification
Loss of Function (LOF)
Somatic deletions and truncating mutations in breast and lung cancer lead to loss of tumor suppressor activity.
Gain of Function (GOF)
De novo missense mutations (e.g., Arg47Cys, Arg48His) in the GTPase domain cause constitutive activation and are linked to epileptic encephalopathy.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type RHOBTB2 function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • Protein binding (GO:0005515) |
| • Actin cytoskeleton organization (GO:0030036) | • Negative regulation of cell cycle (GO:0045786) |
| • Vesicle-mediated transport (GO:0016192) |
Pathways
• Rho GTPase cycle (Reactome R-HSA-9012999)
• Signaling by Rho family GTPases (Reactome R-HSA-194315)
Protein Summary
RHOBTB2 is a 696-amino acid protein containing an N-terminal Rho-like GTPase domain, a proline-rich region, and two C-terminal BTB domains. It functions as a tumor suppressor by regulating actin dynamics and cell proliferation. The protein is predominantly cytoplasmic and localizes to vesicles. Mutations in the GTPase domain disrupt nucleotide binding and lead to neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOBTB2 Knockout HEK293 Cell Line | EDJ-KQ7903 | Human | 23221 | Details Get a Quote |
| RHOBTB2 Knockout A-549 Cell Line | EDJ-KQ33511 | Human | 23221 | Details Get a Quote |
| RHOBTB2 Knockout HCT 116 Cell Line | EDJ-KQ33512 | Human | 23221 | Details Get a Quote |
| RHOBTB2 Knockout HeLa Cell Line | EDJ-KQ33513 | Human | 23221 | Details Get a Quote |
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