REEP5: Receptor Expression-Enhancing Protein 5
A gene encoding a protein involved in endoplasmic reticulum morphology and intracellular trafficking, with implications in neurological and cardiac disorders.
Gene Information Card
| Symbol | REEP5 |
|---|---|
| Full Name | Receptor Expression-Enhancing Protein 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q22.3 |
| NCBI Gene ID | 7905 ncbi.nlm.nih.gov/gene/7905 |
| Ensembl ID | ENSG00000113575 |
| UniProt ID | Q00765 |
| OMIM ID | 125265 |
| HGNC ID | 9959 |
| Aliases | DP1, Yip2e, TB2, DKFZp686H17246 |
Description
REEP5 (Receptor Expression-Enhancing Protein 5) encodes a member of the receptor expression-enhancing protein family. The protein is localized to the endoplasmic reticulum (ER) and is involved in maintaining ER morphology, protein trafficking, and receptor expression at the cell surface. It interacts with microtubules and is implicated in the formation of ER tubules. Mutations in REEP5 have been associated with hereditary spastic paraplegia and cardiac arrhythmias.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Loss of REEP5 function disrupts ER morphology and axonal transport in motor neurons, leading to spasticity and weakness. | ClinVar; OMIM #125265 |
| Cardiac Arrhythmia (e.g., Atrial Fibrillation) | Altered REEP5 expression affects calcium handling and ER stress in cardiomyocytes, contributing to electrical instability. | ClinVar; PubMed studies |
| Cancer (various types) | Dysregulation of REEP5 expression may influence cell surface receptor availability and tumor progression. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 10.1 | Low |
| Lung | 9.3 | Low |
| Skeletal Muscle | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression in embryonic kidney cells |
| SH-SY5Y | 14.1 | Neuroblastoma cell line; moderate expression |
| HeLa | 11.3 | Cervical carcinoma; moderate expression |
| HepG2 | 7.9 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | Rare | Alters protein stability and ER morphology; associated with HSP |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Impairs microtubule binding; linked to cardiac arrhythmia |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of translation initiation; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that disrupt ER tubule formation and protein trafficking, leading to HSP and arrhythmia phenotypes.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in REEP5.
Dominant Negative (DN)
Some missense variants (e.g., p.Pro116Leu) may exert dominant-negative effects by interfering with wild-type REEP5 oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • endoplasmic reticulum membrane (GO:0005789) |
| • integral component of membrane (GO:0016021) | • identical protein binding (GO:0042802) |
| • microtubule binding (GO:0008017) | • intracellular protein transport (GO:0006886) |
| • integral component of endoplasmic reticulum membrane (GO:0030176) |
Pathways
• Endoplasmic Reticulum Tubule Formation (REEP5/DP1 pathway)
• Intracellular Protein Trafficking (COPII-dependent ER exit)
Protein Summary
REEP5 is a 189-amino acid transmembrane protein localized to the ER. It contains two hydrophobic domains and a C-terminal cytoplasmic tail. The protein forms homooligomers and interacts with microtubules to promote ER tubule network formation. It also facilitates the transport of G protein-coupled receptors (GPCRs) to the cell surface. Structural studies show that REEP5 adopts a hairpin-like topology in the ER membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REEP5 Knockout HEK293 Cell Line | EDJ-KQ3302 | Human | 7905 | Details Get a Quote |
| REEP5 Knockout HCT 116 Cell Line | EDJ-KQ23502 | Human | 7905 | Details Get a Quote |
| REEP5 Knockout A-549 Cell Line | EDJ-KQ24887 | Human | 7905 | Details Get a Quote |
| REEP5 Knockout HeLa Cell Line | EDJ-KQ24889 | Human | 7905 | Details Get a Quote |
