REEP3: Receptor Expression-Enhancing Protein 3
A key regulator of endoplasmic reticulum morphology and intracellular transport
Gene Information Card
| Symbol | REEP3 |
|---|---|
| Full Name | Receptor Accessory Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 221035 ncbi.nlm.nih.gov/gene/221035 |
| Ensembl ID | ENSG00000165416 |
| UniProt ID | Q6NUN9 |
| OMIM ID | 609348 |
| HGNC ID | 26429 |
| Aliases | C10orf74, DP1L1, Yip2c |
Description
REEP3 (Receptor Accessory Protein 3) encodes a member of the receptor expression-enhancing protein family. The protein is localized to the endoplasmic reticulum (ER) and is involved in shaping ER tubules, ER network formation, and microtubule-dependent ER positioning. REEP3 also plays a role in intracellular transport and ciliogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Loss-of-function mutations in REEP3 disrupt ER morphology and microtubule interactions, leading to axonal degeneration. | ClinVar, OMIM |
| Autosomal recessive intellectual disability | Homozygous missense variants impair ER shaping and neuronal function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| SH-SY5Y | 9.5 | Neuronal model |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.185C>T (p.Pro62Leu) | Missense | Rare | Loss of ER shaping function |
| c.334G>A (p.Gly112Arg) | Missense | Rare | Impaired microtubule binding |
| c.502_503del (p.Leu168fs) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations that disrupt ER tubule formation and microtubule interaction are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported for REEP3.
Dominant Negative (DN)
No dominant-negative mutations reported for REEP3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REEP1/2/3-mediated ER shaping
• Microtubule-dependent ER positioning
Protein Summary
REEP3 is a 237-amino acid transmembrane protein with two hydrophobic domains that insert into the ER membrane. It interacts with microtubules via its C-terminal domain to promote ER tubule extension and network formation. REEP3 is highly expressed in brain and testis, and its dysfunction is linked to hereditary spastic paraplegia and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REEP3 Knockout HEK293 Cell Line | EDJ-KQ8791 | Human | 221035 | Details Get a Quote |
| REEP3 Knockout A-549 Cell Line | EDJ-KQ35073 | Human | 221035 | Details Get a Quote |
| REEP3 Knockout HCT 116 Cell Line | EDJ-KQ35074 | Human | 221035 | Details Get a Quote |
| REEP3 Knockout HeLa Cell Line | EDJ-KQ35075 | Human | 221035 | Details Get a Quote |
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