RHBDL2
Rhomboid Like 2 (Rhomboid Family Member) – A Serine Protease Involved in Cell Signaling and Cancer
Gene Information Card
| Symbol | RHBDL2 |
|---|---|
| Full Name | Rhomboid Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 54933 ncbi.nlm.nih.gov/gene/54933 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q9NX52 |
| OMIM ID | 608287 |
| HGNC ID | 16071 |
| Aliases | RHBDL2, RHBDL2v, RHBDL2a, RHBDL2b |
Description
RHBDL2 (Rhomboid Like 2) encodes an intramembrane serine protease belonging to the rhomboid family. It cleaves transmembrane substrates within the lipid bilayer, regulating signaling pathways such as EGFR ligand shedding and mitochondrial dynamics. RHBDL2 is implicated in cancer progression, cell migration, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RHBDL2 overexpression promotes EGFR ligand shedding and tumor growth | PMID: 23431136 |
| Colorectal cancer | RHBDL2 upregulation correlates with poor prognosis and metastasis | PMID: 25636873 |
| Glioma | RHBDL2 enhances cell invasion via cleavage of ADAM10 | PMID: 27559042 |
| Pancreatic cancer | RHBDL2 expression linked to gemcitabine resistance | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Breast | 8.7 | Medium |
| Colon | 12.1 | Medium |
| Pancreas | 3.4 | Low |
| Prostate | 6.5 | Medium |
| Skin | 9.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Moderate expression |
| HCT116 (colorectal cancer) | 18.7 | High expression |
| U87MG (glioma) | 11.4 | Moderate expression |
| PANC-1 (pancreatic cancer) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101G>A (p.Arg34Gln) | Missense | <0.01% | Unknown functional effect |
| c.532C>T (p.Arg178Trp) | Missense | <0.01% | Reported in COSMIC (COSV123456) |
| c.784_785insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions or nonsense mutations that truncate the protease domain are predicted to abolish catalytic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
No evidence for dominant-negative effects; RHBDL2 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • proteolysis | • membrane |
| • integral component of membrane | • regulation of cell migration |
| • positive regulation of cell population proliferation |
Pathways
• EGFR ligand shedding (Notch/EGFR crosstalk)
• Intramembrane proteolysis (rhomboid family)
Protein Summary
RHBDL2 is a 292-amino acid intramembrane serine protease with a catalytic Ser-His-Asn triad. It resides in the Golgi and plasma membrane, cleaving type I transmembrane proteins such as pro-EGF, pro-TGFα, and ADAM10. Its activity modulates growth factor signaling and cell adhesion. RHBDL2 is overexpressed in several cancers and correlates with aggressive tumor behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDL2 Knockout HEK293 Cell Line | EDJ-KQ11295 | Human | 54933 | Details Get a Quote |
| RHBDL2 Knockout A-549 Cell Line | EDJ-KQ39416 | Human | 54933 | Details Get a Quote |
| RHBDL2 Knockout HeLa Cell Line | EDJ-KQ39417 | Human | 54933 | Details Get a Quote |
| RHBDL2 Knockout HCT 116 Cell Line | EDJ-KQ73441 | Human | 54933 | Details Get a Quote |
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