RHBDD3
Rhomboid Domain Containing 3
Gene Information Card
| Symbol | RHBDD3 |
|---|---|
| Full Name | Rhomboid Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 25807 ncbi.nlm.nih.gov/gene/25807 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q9H2M9 |
| OMIM ID | 614693 |
| HGNC ID | 23074 |
| Aliases | RHBDL4, RHBDD3, dJ1181N3.1 |
Description
RHBDD3 (Rhomboid Domain Containing 3) is a protein-coding gene located on chromosome 22q11.23. It encodes a member of the rhomboid family of intramembrane serine proteases, involved in regulated intramembrane proteolysis. RHBDD3 is implicated in cellular signaling and protein quality control, with potential roles in immune regulation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered expression; potential role in neurodevelopment | OMIM 614693; NCBI Gene |
| Breast cancer | Overexpression linked to poor prognosis | COSMIC; PubMed studies |
| Colorectal cancer | Mutations and altered expression observed | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 3.5 | Moderate expression |
| K562 | 1.2 | 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% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair protease activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • membrane | • integral component of membrane |
Pathways
• Regulated intramembrane proteolysis (RIP)
Protein Summary
RHBDD3 encodes a rhomboid domain-containing intramembrane serine protease. The protein localizes to the endoplasmic reticulum and Golgi, where it cleaves membrane proteins to regulate signaling and quality control. It is expressed in multiple tissues and may influence cancer progression and neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDD3 Knockout HEK293 Cell Line | EDJ-KQ8239 | Human | 25807 | Details Get a Quote |
| RHBDD3 Knockout A-549 Cell Line | EDJ-KQ34157 | Human | 25807 | Details Get a Quote |
| RHBDD3 Knockout HCT 116 Cell Line | EDJ-KQ34158 | Human | 25807 | Details Get a Quote |
| RHBDD3 Knockout HeLa Cell Line | EDJ-KQ32843 | Human | 25807 | Details Get a Quote |
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