Gene: OCA2

Alternate names for this Gene: BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1

Gene Summary: This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 15

Location in Chromosome : 15q12-q13.1

Description of this Gene: OCA2 melanosomal transmembrane protein

Type of Gene: protein-coding

rs4778174 in OCA2 gene and Attention deficit hyperactivity disorder PMID 30563984 2018 A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene.

rs1448485 in OCA2 gene and Color of iris PMID 18252221 2008 Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

rs4778138 in OCA2 gene and Cutaneous Melanoma PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs121918166 in OCA2 gene and Dysmorphic features PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PMID 21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

PMID 12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

PMID 25093188 2014 Mutational analysis of oculocutaneous albinism: a compact review.

PMID 11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PMID 10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PMID 21292473 2011 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

PMID 8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

rs12438490 in OCA2 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs11855019 in OCA2 gene and Eye Color PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 23548203 2013 Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)).

PMID 23486544 2013 Genetics of eye colours in different rural populations on the Silk Road.

PMID 29109912 2017 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

rs116978932 in OCA2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

PMID 18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

PMID 26184321 2015 Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.

rs4778138 in OCA2 gene and Malignant melanoma of skin of lower limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs4778138 in OCA2 gene and Malignant melanoma of skin of upper limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs121918166 in OCA2 gene and Muscle hypotonia PMID 12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

PMID 21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

PMID 10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PMID 11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PMID 21292473 2011 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 25093188 2014 Mutational analysis of oculocutaneous albinism: a compact review.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

PMID 15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

rs121918166 in OCA2 gene and Oculocutaneous albinism type 2 PMID 10905897 2000 Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome.

PMID 10671067 1998 Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.

PMID 8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 9259203 1997 Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

PMID 10649493 2000 Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

PMID 17960121 2007 Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

PMID 7762554 1995 Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

PMID 12876664 2003 MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

PMID 12727022 2003 A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 8980282 1997 Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

PMID 12713581 2003 Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

PMID 26165494 2015 Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

PMID 26474496 2016 Evidence of macular pigment in the central macula in albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 28451379 2017 Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

PMID 27231233 2016 A melanosomal two-pore sodium channel regulates pigmentation.

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 17385796 2007 Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

PMID 25513726 2014 An intracellular anion channel critical for pigmentation.

PMID 7874125 1994 Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

PMID 27468418 2016 Importance of nonsynonymous OCA2 variants in human eye color prediction.

PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 23744323 2013 [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

PMID 20426782 2010 Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.

PMID 28266639 2017 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

PMID 22734612 2012 Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

PMID 10649493 2000 We identified four mutations (A334V, 614delA, 683insG [corrected], 727insG) in a group of 39 unrelated Black OCA2 patients with a total of 52 non-2.7 kb deletion OCA2 genes.

PMID 19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

PMID 24845642 2014 Relationship between foveal cone specialization and pit morphology in albinism.

PMID 18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

PMID 12713581 2003 In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C).

PMID 25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

PMID 18821858 2008 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

PMID 24118800 2014 High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 24361966 2014 Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

PMID 12713581 2003 In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C).

rs121918166 in OCA2 gene and SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 PMID 8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 8980282 1997 Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

rs1800407 in OCA2 gene and Skin Pigmentation PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

rs149906873 in OCA2 gene and Squamous cell carcinoma PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1800407 in OCA2 gene and Squamous cell carcinoma of skin PMID 27424798 2016 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

rs1800407 in OCA2 gene and Suntan PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs11074306 in OCA2 gene and Uveal melanoma PMID 28781888 2017 A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.

rs4778138 in OCA2 gene and melanoma PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.