REEP6: Receptor Expression Enhancing Protein 6
A key regulator of ciliary function and retinal health
Gene Information Card
| Symbol | REEP6 |
|---|---|
| Full Name | Receptor Accessory Protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 92840 ncbi.nlm.nih.gov/gene/92840 |
| Ensembl ID | ENSG00000105618 |
| UniProt ID | Q96HR9 |
| OMIM ID | 609346 |
| HGNC ID | 30078 |
| Aliases | DP1L2, C19orf32, Yip2f |
Description
REEP6 (Receptor Accessory Protein 6) encodes a member of the receptor expression-enhancing protein family. The protein is localized to the endoplasmic reticulum and is involved in the trafficking and membrane expression of G protein-coupled receptors. REEP6 is highly expressed in the retina and is essential for ciliary function and photoreceptor survival. Mutations in REEP6 are associated with autosomal recessive retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations in REEP6 disrupt ciliary protein trafficking, leading to photoreceptor degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 16.2 | Medium |
| Retina | 15.8 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 12.5 | High expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Moderate expression |
| HeLa (cervical carcinoma) | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199C>T (p.Arg67Ter) | Nonsense | Rare | Loss of function; premature stop codon |
| c.337G>A (p.Gly113Arg) | Missense | Rare | Loss of function; impaired protein stability |
| c.494T>C (p.Leu165Pro) | Missense | Rare | Loss of function; disrupted protein folding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish REEP6 protein function, leading to retinitis pigmentosa.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • signaling receptor activity (GO:0038023) |
| • Golgi to plasma membrane protein transport (GO:0043001) | • protein localization to cilium (GO:0061512) |
Pathways
• GPCR signaling pathway
• Ciliary protein trafficking
Protein Summary
REEP6 is a 237-amino acid protein with two transmembrane domains. It localizes to the endoplasmic reticulum and facilitates the transport of G protein-coupled receptors to the cell surface. In the retina, REEP6 is critical for the maintenance of photoreceptor cilia and outer segment integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REEP6 Knockout HEK293 Cell Line | EDJ-KQ3330 | Human | 92840 | Details Get a Quote |
| REEP6 Knockout A-549 Cell Line | EDJ-KQ24952 | Human | 92840 | Details Get a Quote |
| REEP6 Knockout HCT 116 Cell Line | EDJ-KQ24953 | Human | 92840 | Details Get a Quote |
| REEP6 Knockout HeLa Cell Line | EDJ-KQ24954 | Human | 92840 | Details Get a Quote |
