RHBDD2
Rhomboid Domain Containing 2
Gene Information Card
| Symbol | RHBDD2 |
|---|---|
| Full Name | Rhomboid Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.22 |
| NCBI Gene ID | 55133 ncbi.nlm.nih.gov/gene/55133 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q6NTF9 |
| OMIM ID | 614786 |
| HGNC ID | 23078 |
| Aliases | RHBDL6, dJ402H5.2 |
Description
RHBDD2 (Rhomboid Domain Containing 2) is a protein-coding gene that encodes a member of the rhomboid family of intramembrane serine proteases. The protein is predicted to localize to the Golgi apparatus and may play a role in regulated intramembrane proteolysis. RHBDD2 has been implicated in cancer progression, particularly in breast and colorectal cancers, where altered expression levels correlate with tumor stage and prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of RHBDD2 is associated with tumor progression and poor prognosis; may promote cell proliferation and invasion. | PMID: 22952190, PMID: 25605242 |
| Colorectal Cancer | Upregulation of RHBDD2 in colorectal tumors compared to normal tissue; potential biomarker for early detection. | PMID: 25605242 |
| Ovarian Cancer | Elevated RHBDD2 expression observed in ovarian cancer cell lines and tissues; role in chemoresistance suggested. | PMID: 25605242 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 5.2 nTPM | Medium |
| Colon | 3.8 nTPM | Low |
| Ovary | 4.1 nTPM | Low |
| Brain | 2.5 nTPM | Low |
| Liver | 1.9 nTPM | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 6.0 nTPM | Moderate expression |
| HT-29 (colorectal cancer) | 4.5 nTPM | Low expression |
| SK-OV-3 (ovarian cancer) | 5.8 nTPM | Moderate expression |
| HEK293 (embryonic kidney) | 3.2 nTPM | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.622_624del (p.Glu208del) | In-frame deletion | <0.01% (COSMIC) | Reported in colorectal cancer sample |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RHBDD2.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role, but no specific activating mutations identified.
Dominant Negative (DN)
No dominant-negative mutations described for RHBDD2.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • Golgi apparatus | • membrane |
Pathways
• Notch signaling (predicted)
• Intramembrane proteolysis
Protein Summary
The RHBDD2 protein is a predicted intramembrane serine protease belonging to the rhomboid family. It contains a conserved rhomboid domain and is localized to the Golgi apparatus. The protein may cleave membrane-tethered substrates, potentially regulating signaling pathways such as Notch. RHBDD2 is overexpressed in several cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDD2 Knockout HEK293 Cell Line | EDJ-KQ15059 | Human | 57414 | Details Get a Quote |
| RHBDD2 Knockout HeLa Cell Line | EDJ-KQ44365 | Human | 57414 | Details Get a Quote |
| RHBDD2 Knockout A-549 Cell Line | EDJ-KQ45611 | Human | 57414 | Details Get a Quote |
| RHBDD2 Knockout HCT 116 Cell Line | EDJ-KQ45612 | Human | 57414 | Details Get a Quote |
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