RHOD (Ras Homolog Family Member D)
A small GTPase involved in cytoskeletal dynamics and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | RHOD |
|---|---|
| Full Name | Ras Homolog Family Member D |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.3 |
| NCBI Gene ID | 29984 ncbi.nlm.nih.gov/gene/29984 |
| Ensembl ID | ENSG00000173114 |
| UniProt ID | O00212 |
| OMIM ID | 602037 |
| HGNC ID | 10001 |
| Aliases | ARHD, RHOHP2, RhoD |
Description
RHOD (Ras homolog family member D) encodes a member of the Rho family of small GTPases, which regulate cytoskeletal organization, cell migration, and vesicular trafficking. RHOD is involved in actin dynamics and endosome motility, and its dysregulation has been implicated in cancer progression and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RHOD expression may affect cell migration and invasion via cytoskeletal remodeling. | NCBI Gene, COSMIC |
| Neurodevelopmental disorders | Potential role in neuronal morphogenesis; mutations observed in rare cases. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 2.1 | Low |
| Testis | 4.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.9 | Cervical cancer cell line |
| A549 | 3.1 | Lung cancer cell line |
| HEK293 | 2.5 | Embryonic kidney cell line |
| SH-SY5Y | 3.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.173C>T (p.Thr58Ile) | Missense | <0.01% | Unknown; predicted benign |
| c.421G>A (p.Gly141Ser) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for RHOD.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • Protein binding | • Actin cytoskeleton organization |
| • Endosome transport | • Cell migration |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• RAC1/PAK signaling
Protein Summary
RHOD is a 232-amino acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It regulates actin cytoskeleton dynamics, endosome motility, and cell adhesion. RHOD is widely expressed in human tissues, with highest levels in testis and brain. Mutations are rare but may contribute to cancer cell invasiveness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOD Knockout HEK293 Cell Line | EDJ-KQ9118 | Human | 29984 | Details Get a Quote |
| RHOD Knockout A-549 Cell Line | EDJ-KQ34383 | Human | 29984 | Details Get a Quote |
| RHOD Knockout HCT 116 Cell Line | EDJ-KQ35632 | Human | 29984 | Details Get a Quote |
| RHOD Knockout HeLa Cell Line | EDJ-KQ35633 | Human | 29984 | Details Get a Quote |
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