RHOBTB3
Rho-Related BTB Domain Containing 3
Gene Information Card
| Symbol | RHOBTB3 |
|---|---|
| Full Name | Rho-Related BTB Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q15 |
| NCBI Gene ID | 22836 ncbi.nlm.nih.gov/gene/22836 |
| Ensembl ID | ENSG00000164292 |
| UniProt ID | O94955 |
| OMIM ID | 607353 |
| HGNC ID | 18760 |
| Aliases | DKFZp434B1231, FLJ22595, KIAA0878 |
Description
RHOBTB3 (Rho-Related BTB Domain Containing 3) is a protein-coding gene that encodes a member of the Rho family of GTPases. The protein contains a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain and is involved in actin cytoskeleton organization, cell migration, and intracellular trafficking. RHOBTB3 acts as a GTPase-activating protein (GAP) for Rho GTPases and may play a role in tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect cell migration and invasion | COSMIC, ClinVar |
| Neurodevelopmental disorders | Potential role in neuronal development and synaptic function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.1 | Embryonic kidney cells |
| HeLa | 5.9 | Cervical cancer cells |
| A549 | 4.3 | Lung cancer cells |
| MCF7 | 3.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of function |
| c.567_568del | Frameshift | 0.01% | p.Glu189fs; predicted loss of function |
| c.890A>G | Synonymous | 0.05% | p.Gln297Gln; no effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho GTPase binding |
| • Actin cytoskeleton organization | • Intracellular protein transport |
| • BTB domain |
Pathways
• Rho GTPase cycle
• Actin cytoskeleton regulation
• Vesicle-mediated transport
Protein Summary
The RHOBTB3 protein is a 696-amino acid Rho GTPase-activating protein (GAP) that contains a BTB domain. It localizes to the cytoplasm and is involved in regulating actin dynamics, cell migration, and endosomal trafficking. The protein interacts with Cdc42 and Rac1, modulating their activity. RHOBTB3 is expressed in multiple tissues, with highest levels in testis and brain. Mutations and altered expression have been associated with cancer and neurodevelopmental conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOBTB3 Knockout HEK293 Cell Line | EDJ-KQ7685 | Human | 22836 | Details Get a Quote |
| RHOBTB3 Knockout A-549 Cell Line | EDJ-KQ33045 | Human | 22836 | Details Get a Quote |
| RHOBTB3 Knockout HCT 116 Cell Line | EDJ-KQ33046 | Human | 22836 | Details Get a Quote |
| RHOBTB3 Knockout HeLa Cell Line | EDJ-KQ33047 | Human | 22836 | Details Get a Quote |
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