MREG (Melanoregulin) Gene
A key regulator of melanosome transport and pigmentation
Gene Information Card
| Symbol | MREG |
|---|---|
| Full Name | Melanoregulin |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 55686 ncbi.nlm.nih.gov/gene/55686 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8N2M8 |
| OMIM ID | 609218 |
| HGNC ID | 25286 |
| Aliases | C2orf4, MGC13170, MGC138499 |
Description
MREG (melanoregulin) encodes a protein involved in the regulation of melanosome transport within melanocytes. It interacts with the Rab27a-Mlph-Myo5a complex to facilitate the peripheral distribution of melanosomes, contributing to skin and hair pigmentation. The gene is also implicated in retinal pigment epithelium function and has been associated with pigmentation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Altered MREG expression may affect melanosome transport, influencing tumor progression and pigmentation in melanoma cells. | COSMIC, NCBI |
| Hermansky-Pudlak syndrome (HPS) | MREG dysfunction disrupts melanosome biogenesis and transport, contributing to HPS-like pigmentation defects. | OMIM, ClinVar |
| Retinal degeneration | MREG variants may impair melanosome transport in retinal pigment epithelium, leading to retinal dysfunction. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Retina | 8.3 | Low |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanocytes | 15.0 | Highest expression in melanocytic cells |
| Retinal pigment epithelium cells | 9.8 | Moderate expression |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Unknown effect, rare variant |
| c.325G>A (p.Gly109Ser) | Missense | <0.01% | Unknown effect, rare variant |
Mutation functional classification
Loss of Function (LOF)
MREG loss-of-function mutations disrupt melanosome transport, leading to pigmentation defects.
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)
| • melanosome transport (GO:0032402) | • melanosome localization (GO:0032438) |
| • melanosome organization (GO:0033162) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) |
Pathways
• Rab27a-Mlph-Myo5a melanosome transport pathway
• Melanogenesis
Protein Summary
Melanoregulin is a 206-amino acid protein localized to the cytoplasm and melanosome membrane. It functions as a regulator of melanosome transport by interacting with the Rab27a-Mlph-Myo5a complex, ensuring proper distribution of melanosomes to the cell periphery. This process is critical for pigmentation in skin and hair, as well as for retinal pigment epithelium function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIMREG Knockout HEK293 Cell Line | EDJ-KQ3685 | Human | 54478 | Details Get a Quote |
| MREG Knockout HEK293 Cell Line | EDJ-KQ14295 | Human | 55686 | Details Get a Quote |
| MREG Knockout A-549 Cell Line | EDJ-KQ44355 | Human | 55686 | Details Get a Quote |
| MREG Knockout HCT 116 Cell Line | EDJ-KQ44356 | Human | 55686 | Details Get a Quote |
| MREG Knockout HeLa Cell Line | EDJ-KQ44357 | Human | 55686 | Details Get a Quote |
| PIMREG Knockout HCT 116 Cell Line | EDJ-KQ24308 | Human | 54478 | Details Get a Quote |
| PIMREG Knockout A-549 Cell Line | EDJ-KQ25681 | Human | 54478 | Details Get a Quote |
| PIMREG Knockout HeLa Cell Line | EDJ-KQ25683 | Human | 54478 | Details Get a Quote |
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