Description: Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. RefSeq Summary (NM_016180): 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]. Transcript (Including UTRs) Position: hg19 chr5:33,951,511-33,984,780 Size: 33,270 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr5:33,951,757-33,984,688 Size: 32,932 Coding Exon Count: 4
ID:D6RGY6_HUMAN DESCRIPTION: SubName: Full=Membrane-associated transporter protein; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Eye Color Nicholas Eriksson et al. PLoS genetics 2010, Web-based, participant-driven studies yield novel genetic associations for common traits., PLoS genetics.
[PubMed 20585627]
Hair Color Jiali Han et al. PLoS genetics 2008, A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation., PLoS genetics.
[PubMed 18483556]
Hair Color Nicholas Eriksson et al. PLoS genetics 2010, Web-based, participant-driven studies yield novel genetic associations for common traits., PLoS genetics.
[PubMed 20585627]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF13347 - MFS/sugar transport protein
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on D6RGY6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
