RHPN2
Rhophilin Rho GTPase Binding Protein 2
Gene Information Card
| Symbol | RHPN2 |
|---|---|
| Full Name | Rhophilin Rho GTPase Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 85415 ncbi.nlm.nih.gov/gene/85415 |
| Ensembl ID | ENSG00000105641 |
| UniProt ID | Q8IUC4 |
| OMIM ID | 618887 |
| HGNC ID | 19987 |
| Aliases | RHPN2, rhophilin-2, Rho GTPase binding protein 2 |
Description
RHPN2 (Rhophilin Rho GTPase Binding Protein 2) is a protein-coding gene located on chromosome 19q13.11. The encoded protein contains a Rho-binding domain and is involved in cytoskeletal organization and cell signaling. RHPN2 interacts with Rho GTPases and may play a role in cellular processes such as migration and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression and mutations may affect Rho signaling pathways, contributing to tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.1 | Low |
| Breast | 4.8 | Low |
| Colon | 6.0 | Medium |
| Kidney | 4.5 | Low |
| Liver | 3.9 | Low |
| Lung | 5.5 | Medium |
| Ovary | 4.2 | Low |
| Prostate | 5.0 | Medium |
| Skin | 4.1 | Low |
| Testis | 6.8 | Medium |
| Thyroid | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.2 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| K562 | 4.0 | Low expression |
| MCF7 | 5.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.205G>A (p.Glu69Lys) | Missense | 0.01% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Rho GTPase binding | • cytoskeleton |
| • signal transduction |
Pathways
• Rho GTPase signaling
• Regulation of actin cytoskeleton
Protein Summary
RHPN2 encodes rhophilin-2, a protein that binds Rho GTPases and is implicated in cytoskeletal dynamics. It is expressed in various tissues and may be involved in cancer through altered signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHPN2 Knockout HEK293 Cell Line | EDJ-KQ10353 | Human | 85415 | Details Get a Quote |
| RHPN2 Knockout A-549 Cell Line | EDJ-KQ37668 | Human | 85415 | Details Get a Quote |
| RHPN2 Knockout HCT 116 Cell Line | EDJ-KQ37669 | Human | 85415 | Details Get a Quote |
| RHPN2 Knockout HeLa Cell Line | EDJ-KQ37670 | Human | 85415 | Details Get a Quote |
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