Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SLC45A2 contributors: mct/npt - updated : 07-06-2017
HGNC name solute carrier family 45, member 2
HGNC id 16472
DNA
TYPE functioning gene
STRUCTURE 40.06 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1734 58.2 530 - 2015 25760657
6 - 2769 51.1 460 - 2015 25760657
4 - 1085 - 243 - 2015 25760657
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin     Mus musculus
Visualeye     Mus musculus
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentmelanocyte Homo sapiens
cell lineage
cell lines melanoma cells
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve transmembrane segments
  • cytoplasmic N and C termini, sucrose/proton symporter found in plants between TM2 and TM3
  • HOMOLOGY
    interspecies ortholog to murine underwhite Uw
    ortholog to medaka fish Aim1
    Homologene
    FAMILY
  • glycoside-pentoside-hexuronide (GPH) cation symporter transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • in the melanosome membrane (Guedj 2008)
  • is located in melanosomes
  • basic FUNCTION
  • regulation of melanogenesis
  • may be transporting substances required for melanin biosynthesis
  • playing a crucial role in the processing and intracellular trafficking of tyrosinse as well as other melanosomal proteins
  • involved in skin and hair pigmentation
  • may play an important role in regulating tyrosinase activity via controlling melanosomal pH
  • involved in skin pigmentation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    text presumably mediating the transport of a critical substance across the melanosome membrane
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OCA4
    Susceptibility to melanoma
    Variant & Polymorphism SNP , other
  • associated with normal variation of pigmentation
  • variants protective for melanoma
  • rare allele L374 significantly increases the
  • possibility of having black hair colour (Branicki 2008)
  • 3 SNP(rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) exhibited the strongest crude association with risk of cutaneous malignant melanoma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS