SLC45A2

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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namesolute carrier family 45 member 2
OMIM IDMIM:606202
Ensembl IDEnsembl:ENSG00000164175
HGNC IDHGNC:HGNC:16472
PHARMGKB IDPA134897756
Map Location5p13.2

Gene Categories:

TRANSPORTER

GO terms in SLC45A2


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Term Type
Evidence Type
GO Term ID
GO Des.
MF ISS GO:0008506 sucrose:proton symporter activity
CC IEA GO:0016021 integral component of membrane
CC IEA GO:0033162 melanosome membrane
BP IEA GO:0007601 visual perception
BP ISS GO:0015770 sucrose transport
BP IEA GO:0042438 melanin biosynthetic process
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Gene expression in normal tissue: SLC45A2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined34Apoptosis regulation3DNA replication2Protein stability and degradation1ERK MAPK signaling1Other, kinases1Purine metabolism1Chromatin histone acetylation1Stilbenoid, diarylheptanoid and gingerol biosynthesis1Genome integrity1

Pathways in SLC45A2


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1430728 Metabolism
reactome R-HSA-5662702 Melanin biosynthesis
reactome R-HSA-71291 Metabolism of amino acids and derivatives
wikipathways WP3998 Prader-Willi and Angelman Syndrome
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD77 Itraconazole 1
iGMDRD289 Parthenolide 7
iGMDRD192 CIL56 1
iGMDRD103 SN-38 5
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SLC45A2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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