Version 5.4
Homo sapiens Gene: SLC45A2
Summary
InnateDB Gene IDBG-14935.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC45A2
Gene Name solute carrier family 45, member 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164175
Encoded Proteins
IDBP-14937
solute carrier family 45, member 2
IDBP-14939
solute carrier family 45, member 2
IDBP-480860
solute carrier family 45, member 2
IDBP-478950
solute carrier family 45, member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 5:33944616-33984730
Strand Reverse strand
Band p13.2
Transcripts
ENST00000382102 ENSP00000371534
ENST00000296589 ENSP00000296589
ENST00000510600 ENSP00000424010
ENST00000509381 ENSP00000421100
ENST00000505056
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
GO:0042438 melanin biosynthetic process
GO:0048066 developmental pigmentation
GO:0050896 response to stimulus
GO:0055085 transmembrane transport
Cellular Component
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022243
View Gene Order
ENSBTAG00000018235
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.278962
RefSeq NM_001012509 NM_001297417 NM_016180 XM_005248311
HUGO
OMIM
CCDS CCDS3901 CCDS43308 CCDS75232
HPRD 05865
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca