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FLASH GENE

Symbol

OCA2

contributors: mct/npt - updated : 15-11-2018

HGNC name	oculocutaneous albinism II
HGNC id	8101

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000275 24 - 3154 NP_000266 - 838 - 2017 28456133 NM_001300984 23 - 3082 NP_001287913 - 814 - 2017 28456133

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous nerve cranial nerve       Respiratory respiratory tract larynx     highly Skin/Tegument skin       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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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