REEP2 Gene - Receptor Expression Enhancing Protein 2
Essential regulator of endoplasmic reticulum morphology and neuronal function
Gene Information Card
| Symbol | REEP2 |
|---|---|
| Full Name | Receptor Accessory Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 51308 ncbi.nlm.nih.gov/gene/51308 |
| Ensembl ID | ENSG00000113597 |
| UniProt ID | Q9BRK0 |
| OMIM ID | 609347 |
| HGNC ID | 26490 |
| Aliases | C5orf18, SPG72, Yip2a |
Description
REEP2 (Receptor Accessory Protein 2) encodes a member of the receptor expression enhancing protein family, which is involved in shaping the endoplasmic reticulum (ER) and promoting the cell surface expression of odorant and other G protein-coupled receptors. The protein contains two transmembrane domains and a conserved Yip1 domain. Mutations in REEP2 are associated with autosomal dominant hereditary spastic paraplegia type 72 (SPG72), a neurodegenerative disorder characterized by progressive lower limb spasticity and weakness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 72 (SPG72) | Loss-of-function mutations impair ER tubule formation and neuronal axon maintenance, leading to corticospinal tract degeneration. | ClinVar, OMIM |
| Spastic Paraplegia, Autosomal Dominant | Dominant-negative or haploinsufficient REEP2 variants disrupt ER network integrity in motor neurons. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal Cord | 10.8 | Medium |
| Testis | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HeLa | 7.8 | Cervical carcinoma |
| HEK293 | 6.5 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.185C>T (p.Thr62Ile) | Missense | Rare | Dominant-negative; disrupts ER tubulation |
| c.364G>A (p.Glu122Lys) | Missense | Rare | Loss of function; impaired ER shaping |
| c.2T>C (p.Met1Thr) | Start loss | Rare | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
REEP2 loss-of-function mutations (e.g., start loss, truncating) reduce ER tubule formation, compromising neuronal ER morphology and axonal transport.
Gain of Function (GOF)
No gain-of-function mutations reported for REEP2.
Dominant Negative (DN)
Missense mutations such as p.Thr62Ile act via dominant-negative mechanism, interfering with wild-type REEP2 function in ER network formation.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • endoplasmic reticulum organization (GO:0007029) |
| • integral component of endoplasmic reticulum membrane (GO:0030176) | • Golgi to plasma membrane protein transport (GO:0043001) |
| • recycling endosome (GO:0055037) |
Pathways
• Endoplasmic reticulum shaping and tubulation
• G protein-coupled receptor trafficking
• Neuronal axon maintenance
Protein Summary
REEP2 is a 251-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains a Yip1 domain and two transmembrane helices. The protein promotes ER tubule formation by interacting with reticulons and other REEP family members. In neurons, REEP2 is critical for maintaining ER morphology in axons and dendrites. Mutations cause hereditary spastic paraplegia by disrupting ER network integrity and impairing corticospinal tract function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REEP2 Knockout HEK293 Cell Line | EDJ-KQ11036 | Human | 51308 | Details Get a Quote |
| REEP2 Knockout A-549 Cell Line | EDJ-KQ38936 | Human | 51308 | Details Get a Quote |
| REEP2 Knockout HCT 116 Cell Line | EDJ-KQ38937 | Human | 51308 | Details Get a Quote |
| REEP2 Knockout HeLa Cell Line | EDJ-KQ38938 | Human | 51308 | Details Get a Quote |
