SLC45A2
Sign in to saveAlso known as 1A1, AIM1, MATP, OCA4, SHEP5, solute carrier family 45 member 2
protein-coding gene in the species Homo sapiens
Gene data
SLC45A2- Name
- solute carrier family 45 member 2
- Type
- protein-coding
- Position
- 33,943,530–33,986,124 (−)
- Aliases
- 1A1, AIM1, MATP, OCA4, SHEP5
- Ensembl
- ENSG00000164175
- RefSeq RNA
- NM_001012509.4, NM_001297417.4, NM_001445414.1, NM_001445415.1, NM_016180.5
- RefSeq protein
- NP_001012527.2, NP_001284346.2, NP_001432343.1, NP_001432344.1, NP_057264.4
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 Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
solute carrier family 45 member 2
- Symbol
- SLC45A2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr HSCHR5_6_CTG1:145,938-155,826
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 10 more facts
- HomoloGene ID
- 9412
- exact match
- identifiers.org/ncbigene/51151
- genetic association
- albinism
- found in taxon
- Homo sapiens
- genomic end
- 33984693
- genomic start
- 33944623
- chromosome
- human chromosome 5
- cytogenetic location
- 5p13.2
- Commons category
- SLC45A2
- expressed in
- fundus
Sources (4)
via Wikidata · CC0