REEP4: Receptor Expression-Enhancing Protein 4
A gene encoding a protein involved in endoplasmic reticulum morphology and intracellular transport.
Gene Information Card
| Symbol | REEP4 |
|---|---|
| Full Name | Receptor Accessory Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 80346 ncbi.nlm.nih.gov/gene/80346 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H6H4 |
| OMIM ID | 609348 |
| HGNC ID | 26467 |
| Aliases | C8orf22, DP1L2, Yip2c |
Description
REEP4 (Receptor Accessory Protein 4) 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 and facilitating ER-mitochondria contacts. It also plays a role in intracellular transport and receptor expression at the cell surface.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Mutations in REEP4 may disrupt ER morphology and axonal transport, leading to neurodegeneration. | ClinVar; PMID: 25356899 |
| Cancer (general) | Altered REEP4 expression may affect cell signaling and proliferation. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 10.1 | Moderate expression |
| SH-SY5Y | 8.7 | Moderate expression |
| HepG2 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.421C>T (p.Arg141Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Not established for REEP4; some missense variants may impair ER shaping.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • endoplasmic reticulum organization (GO:0007029) |
| • Golgi to plasma membrane transport (GO:0043001) | • cellular response to insulin stimulus (GO:0032869) |
Pathways
• Endoplasmic reticulum membrane shaping
• Intracellular protein transport
Protein Summary
REEP4 is a 257-amino acid protein with two transmembrane domains and a conserved DP1/Yip1 domain. It localizes to the ER and is essential for maintaining ER network morphology. The protein interacts with other REEP family members and is involved in ER-mitochondria tethering. Its expression is highest in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REEP4 Knockout HEK293 Cell Line | EDJ-KQ3229 | Human | 80346 | Details Get a Quote |
| REEP4 Knockout A-549 Cell Line | EDJ-KQ24737 | Human | 80346 | Details Get a Quote |
| REEP4 Knockout HCT 116 Cell Line | EDJ-KQ24738 | Human | 80346 | Details Get a Quote |
| REEP4 Knockout HeLa Cell Line | EDJ-KQ24739 | Human | 80346 | Details Get a Quote |
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