RHBDL3
Rhomboid Like 3 (RHBDL3) Gene: Function, Expression, and Disease Associations
Gene Information Card
| Symbol | RHBDL3 |
|---|---|
| Full Name | Rhomboid Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 162494 ncbi.nlm.nih.gov/gene/162494 |
| Ensembl ID | ENSG00000141367 |
| UniProt ID | Q9H2A3 |
| OMIM ID | 610857 |
| HGNC ID | 28728 |
| Aliases | RHBDL, RHBDL3, rhomboid-3 |
Description
RHBDL3 (Rhomboid Like 3) is a protein-coding gene that encodes an intramembrane serine protease belonging to the rhomboid family. The protein is localized to the endoplasmic reticulum and Golgi apparatus and is involved in regulated intramembrane proteolysis, cleaving membrane-anchored substrates to release signaling molecules. RHBDL3 has been implicated in developmental processes and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered RHBDL3 expression may affect growth factor signaling via cleavage of membrane-bound substrates; evidence from expression studies. | Expression profiling (COSMIC, literature) |
| Inflammatory disorders | Potential role in immune signaling through cleavage of cytokines or receptors; limited direct evidence. | Association studies (PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) likely cause loss of protease activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • integral component of membrane | • endoplasmic reticulum |
| • Golgi apparatus |
Pathways
• Regulated intramembrane proteolysis (RIP)
Protein Summary
RHBDL3 is a 7-transmembrane domain serine protease that cleaves substrates within the lipid bilayer. It is involved in the release of intracellular domains that can act as signaling molecules. The protein is widely expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDL3 Knockout HEK293 Cell Line | EDJ-KQ7620 | Human | 162494 | Details Get a Quote |
| RHBDL3 Knockout A-549 Cell Line | EDJ-KQ32963 | Human | 162494 | Details Get a Quote |
| RHBDL3 Knockout HCT 116 Cell Line | EDJ-KQ32964 | Human | 162494 | Details Get a Quote |
| RHBDL3 Knockout HeLa Cell Line | EDJ-KQ32965 | Human | 162494 | Details Get a Quote |
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