MFSD12
Major Facilitator Superfamily Domain Containing 12
Gene Information Card
| Symbol | MFSD12 |
|---|---|
| Full Name | Major Facilitator Superfamily Domain Containing 12 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 126321 ncbi.nlm.nih.gov/gene/126321 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617745 |
| HGNC ID | 28301 |
| Aliases | MFSD12, FLJ20489, MFSD12A, MFSD12B |
Description
MFSD12 encodes a member of the major facilitator superfamily of transporters. The protein is localized to lysosomes and melanosomes and is involved in the regulation of melanin synthesis and pigmentation. Variants in MFSD12 are associated with skin color variation and susceptibility to vitiligo. The gene is also implicated in melanoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitiligo | Loss-of-function variants reduce melanin production, leading to depigmentation | OMIM 617745; ClinVar |
| Melanoma susceptibility | Altered MFSD12 expression may affect melanin synthesis and tumor progression | COSMIC; NCBI Gene |
| Skin color variation | Common variants in MFSD12 are associated with lighter skin pigmentation in East Asian populations | OMIM 617745; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| A375 (melanoma) | 22.8 | High expression |
| MCF7 | 9.1 | Low expression |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1129038 | SNP | Common (East Asian ~50%) | Associated with lighter skin pigmentation |
| rs1042602 | SNP | Common (European ~40%) | Associated with skin color variation |
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of function, linked to vitiligo |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants (e.g., p.Met1?) reduce melanin synthesis, contributing to hypopigmentation and vitiligo.
Gain of Function (GOF)
Not well characterized; gain-of-function may increase melanin production.
Dominant Negative (DN)
Not reported for MFSD12.
View complete mutation data：
Gene Ontology (GO)
| • GO:0016021 (integral component of membrane) | • GO:0005764 (lysosome) |
| • GO:0033162 (melanosome membrane) | • GO:0043473 (pigmentation) |
| • GO:0006810 (transport) |
Pathways
• Melanin biosynthesis
• Lysosomal transport
Protein Summary
MFSD12 is a 438-amino acid transmembrane protein with 12 predicted helices, characteristic of the major facilitator superfamily. It localizes to lysosomes and melanosomes and is thought to transport small molecules required for melanin synthesis. The protein is highly expressed in melanocytes and skin, and its dysfunction leads to pigmentation disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFSD12 Knockout HEK293 Cell Line | EDC08383 | Human | 126321 | Details Get a Quote |
| MFSD12 Knockout A-549 Cell Line | EDJ-KQ35236 | Human | 126321 | Details Get a Quote |
| MFSD12 Knockout HCT 116 Cell Line | EDC07831 | Human | 126321 | Details Get a Quote |
| MFSD12 Knockout HeLa Cell Line | EDJ-KQ35238 | Human | 126321 | Details Get a Quote |
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