SLC45A2 Chromosome 5
Solute carrier family 45 member 2
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What This Gene Does
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Solute carrier family 45
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000164175
Associated Conditions (10)
Oculocutaneous albinism type 4
SKIN/HAIR/EYE PIGMENTATION 5
BLACK/NONBLACK HAIR
Uveal melanoma
Inborn genetic diseases
SLC45A2-related disorder
Nonsyndromic Oculocutaneous Albinism
Albinism or congenital nystagmus
Thrombocytopenia
Abnormal bleeding
Key Variants
RS116887602
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
Health Risk
RS1177355814
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
RS1211363704
Conflicting classifications of pathogenicity
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR, Oculocutaneous albinism type 4
Health Risk
RS121912619
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
Health Risk
RS121912620
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
RS1352999116
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
RS142299109
Conflicting classifications of pathogenicity
Health Risk
RS148156477
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
RS149213379
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
RS150473213
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, SLC45A2-related disorder, SKIN/HAIR/EYE PIGMENTATION 5
Health Risk
RS188368977
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
RS200477301
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
Health Risk
All Variants (121)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764544992 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR |
| RS797045970 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS928584298 | Health Risk | Likely pathogenic | — |
| RS980618644 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS1057518722 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS1184883440 | Health Risk | Pathogenic | — |
| RS1195350614 | Health Risk | Pathogenic | — |
| RS121912621 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS1241722581 | Health Risk | Pathogenic | — |
| RS1264884144 | Health Risk | Pathogenic | — |
| RS1294369944 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS1328291937 | Health Risk | Pathogenic | — |
| RS139551409 | Health Risk | Pathogenic | — |
| RS1411478607 | Health Risk | Pathogenic | — |
| RS146930801 | Health Risk | Pathogenic | — |
| RS1579547726 | Health Risk | Pathogenic | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR, SKIN/HAIR/EYE PIGMENTATION 5 |
| RS1753106609 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS1753188795 | Health Risk | Pathogenic | — |
| RS200122644 | Health Risk | Pathogenic | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR, Oculocutaneous albinism type 4 |
| RS2111962512 | Health Risk | Pathogenic | — |
| RS2478774638 | Health Risk | Pathogenic | — |
| RS2478775818 | Health Risk | Pathogenic | — |
| RS2478791909 | Health Risk | Pathogenic | — |
| RS2478839380 | Health Risk | Pathogenic | — |
| RS2478839825 | Health Risk | Pathogenic | — |
| RS2478841472 | Health Risk | Pathogenic | — |
| RS2478911729 | Health Risk | Pathogenic | — |
| RS2478912585 | Health Risk | Pathogenic | — |
| RS2478921511 | Health Risk | Pathogenic | — |
| RS2478921736 | Health Risk | Pathogenic | — |
| RS2478922997 | Health Risk | Pathogenic | — |
| RS2478924297 | Health Risk | Pathogenic | — |
| RS2478924449 | Health Risk | Pathogenic | — |
| RS373846997 | Health Risk | Pathogenic | — |
| RS374949938 | Health Risk | Pathogenic | — |
| RS387906317 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR |
| RS562624441 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS730880270 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS730880271 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS748872789 | Health Risk | Pathogenic | Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism |
| RS750747932 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS751978811 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS752501574 | Health Risk | Pathogenic | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR, Oculocutaneous albinism type 4 |
| RS753485165 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR |
| RS757344228 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, SLC45A2-related disorder, Oculocutaneous albinism type 4 |
| RS759043037 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 |
| RS759411189 | Health Risk | Pathogenic | Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR |
| RS771984796 | Health Risk | Pathogenic | — |
| RS772652116 | Health Risk | Pathogenic | — |
| RS778023978 | Health Risk | Pathogenic | — |