SLC45A2: Solute Carrier Family 45 Member 2 – Melanocyte Differentiation and Pigmentation Gene
Comprehensive biomedical resource on SLC45A2, including gene card, expression, mutations, and associated diseases (OCA4, melanoma).
Gene Information Card
| Symbol | SLC45A2 |
|---|---|
| Full Name | solute carrier family 45 member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 51151 ncbi.nlm.nih.gov/gene/51151 |
| Ensembl ID | ENSG00000164175 |
| UniProt ID | Q9UMX9 |
| OMIM ID | 606202 |
| HGNC ID | 29372 |
| Aliases | MATP, AIM1, SHEP5, 1A1, OCA4 |
Description
SLC45A2 encodes a membrane-associated transporter protein (MATP) that functions as a solute carrier involved in melanin synthesis. It is expressed predominantly in melanocytes and plays a critical role in melanosome maturation and pH regulation. Loss-of-function mutations cause oculocutaneous albinism type 4 (OCA4), while variants are also associated with normal human pigmentation variation and melanoma susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculocutaneous albinism type 4 (OCA4) | Loss-of-function mutations impair melanosomal pH and melanin production, leading to hypopigmentation and visual defects. | Multiple reports in ClinVar and OMIM (606202). |
| Melanoma susceptibility | Common variants (e.g., p.Phe374Leu) modulate pigmentation and melanoma risk. | GWAS and COSMIC database; functional studies show altered transporter activity. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Eye | 8.3 | Medium |
| Brain | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 15.2 | High expression |
| A375 (melanoma) | 11.8 | High expression |
| HEK293 (embryonic kidney) | 0.3 | Low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1121C>T (p.Thr374Ile) | missense | 0.5% in European populations | Reduced transporter activity; associated with lighter pigmentation and melanoma risk. |
| c.1066G>A (p.Asp356Asn) | missense | Rare | Loss of function; causes OCA4. |
| c.478G>A (p.Gly160Arg) | missense | Rare | Loss of function; causes OCA4. |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations (e.g., p.Asp356Asn, p.Gly160Arg) impair melanosomal pH regulation and melanin synthesis, leading to OCA4.
Gain of Function (GOF)
Not reported for SLC45A2.
Dominant Negative (DN)
Not reported for SLC45A2.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • integral component of membrane (GO:0016021) |
| • melanosome (GO:0042470) | • melanosome membrane (GO:0032438) |
| • pigmentation (GO:0043473) | • melanin biosynthetic process (GO:0006583) |
Pathways
• Melanin biosynthesis (Reactome: R-HSA-5668599)
• Melanosome maturation (KEGG: hsa04916)
Protein Summary
SLC45A2 (MATP) is a 530-amino-acid transmembrane protein with 12 predicted helices. It localizes to melanosomal membranes and functions as a sodium/hydrogen antiporter, regulating melanosomal pH. Proper pH is essential for tyrosinase activity and melanin polymerization. The protein is highly conserved in vertebrates and is a key determinant of skin, hair, and eye color.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC45A2 Knockout HEK293 Cell Line | EDJ-KQ1917 | Human | 51151 | Details Get a Quote |
| SLC45A2 Knockout HeLa Cell Line | EDJ-KQ56237 | Human | 51151 | Details Get a Quote |
| SLC45A2 Knockout A-549 Cell Line | EDJ-KQ64727 | Human | 51151 | Details Get a Quote |
| SLC45A2 Knockout HCT 116 Cell Line | EDJ-KQ73172 | Human | 51151 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
