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FLASH GENE
Symbol OCA2 contributors: mct/npt - updated : 15-11-2018
HGNC name oculocutaneous albinism II
HGNC id 8101
Corresponding disease
AS Angelman syndrome
HECD skin, hair and eye pigmentation variations
OCA2 oculocutaneous albinism, type 2
PWS Prader-Willi syndrome
Location 15q13.1      Physical location : 28.000.024 - 28.344.458
Synonym name
  • melanosomal membrane protein (110kD)
  • pink-eyed dilution,homolog of mouse p locus
  • oculocutaneous albinism II (pink-eye dilution homolog, mouse)
  • P protein
  • melanocyte-specific transporter protein
  • eye color 2 (central brown)
  • eye color 3 (brown)
  • total brown iris pigmentation
    • Synonym symbol(s) D15S12, PEDH, BOCA, P, PED, EYCL3, EYCL2, BEY2, EYCL, BEY, BEY1, SHEP1
    DNA
    TYPE functioning gene
    STRUCTURE 380.33 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    regionally located included in PWS/AS critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 3154 - 838 - 2017 28456133
    23 - 3082 - 814 - 2017 28456133
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerve   
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal cytoplasmic domain of human OCA2 contains three consensus aLL motifs termed LL1, LL2, and LL3
  • twelve transmembrane spanning segments (12TM)
  • a conserved consensus acidic dileucine-based sorting motif within the cytoplasmic N-terminal region
  • a second dileucine signal within this region confers steady-state lysosomal localization in melanocytes, suggesting that OCA2 might traverse multiple sequential or parallel trafficking routes (Sitaram 2009)
    • HOMOLOGY
    interspecies homolog to murine p locus
    Homologene
    FAMILY
  • citM transporter family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text targeted to and functions within melanosomes but that residence within melanosomes may be regulated by secondary or alternative targeting to lysosomes (Sitaram 2009)
    basic FUNCTION
  • involved in small molecule transport, specifically tyrosine - a precursor of melanin
  • involved in melanogenesis
  • may serve as a key control point at which ethnic skin color variation is determined
  • plays a critical role in melanin synthesis in melanocytes and retinal pigment epithelium cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text tyrosine into melanosomes (sodium sulfate symporter)
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MC1R (interactive effect on melanoma risk)
  • significant interactions of a redundant character between the HERC2 and OCA2 genes affecting determination of hazel eye colour
  • distinct roles of AP1B1 and AP3B1 in OCA2 transport to melanosomes, indicating that BLOC1S1 can cooperate with either adaptor during cargo sorting to lysosome-related organelles (LROs)
  • TBX2 acts as regulator of melanogenesis by repressing the expression of the gene encoding the melanosomal protein OCA2
    • cell & other
    REGULATION
    Other modified by MC1R
    ASSOCIATED DISORDERS
    corresponding disease(s) OCA2 , PWS , AS , HECD
    related resource AlbinismDatabase
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    associated with mutation of OCA2 in oculocutaneous albinism with red hair
    constitutional       loss of function
    can significantly change the melanosomal morphology, types and their respective numbers, and provided a novel strategy for the control of melanin synthesis
    constitutional     --low  
    disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes
    Susceptibility
  • to skin cancer (melanoma), in addition to MC1R
  • to blue/nonblue eye color
  • to variation of skin pigmentation
    • Variant & Polymorphism SNP
  • polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the TGT haplotype within the intron 1 of with blue eye color
  • variant located within the gene OCA2 (rs1800414) is associated with skin pigmentation in two samples of East Asian ancestry (Edwards 2010)
    • Candidate gene for fair complexion in Deleted PWS and AS patients
    Marker
    Therapy target
    ANIMAL & CELL MODELS