Property Summary

NCBI Gene PubMed Count 107
PubMed Score 281.22
PubTator Score 372.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 1.900 1.5e-04
cutaneous lupus erythematosus -2.800 3.3e-04
osteosarcoma 1.456 2.0e-04
cystic fibrosis 2.500 3.6e-06
atypical teratoid/rhabdoid tumor 1.500 2.6e-02
ovarian cancer 1.200 1.0e-07
head and neck cancer and chronic obstruc... -1.300 4.9e-03

Gene RIF (85)

PMID Text
25919014 The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of Oculocutaneous albinism.
25809079 Two nonsynonymous OCA2 polymorphisms (rs1800414 and rs74653330) are independently associated with normal skin pigmentation variation in East Asian populations and have very different frequency distributions in East Asia.
25469862 variations in OCA2 might have developed by diversifying selection.
25455140 individuals from ''El Santuario and Marinilla, Antioquia'', genetically isolated northwestern towns in Colombia well known for its high albinism prevalence [7], were all homozygous for the previously reported p.A787T mutation in OCA2 gene
25119903 4 heterozygous mutations of the P gene were found two Chinese families affected with oculocutaneous albinism type .
24387780 REVIEW: current hypotheses and the available data on the mechanism of OCA2 transcriptional regulation and how this is influenced by genetic variation
24361966 Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. c.2139G>A represents the first exonic splicing mutation identified in an OCA2 gene.
23824587 The most disease-associated mutation of R305W which corresponds to OCA2 results showed prominent loss of stability and rise in mutant flexibility values in 3D space.
23601698 given a particular HERC2/OCA2 genotype, males are more prone to have lighter eye colors than predicted by their genotypes, while females tend to have darker eye colors than predicted
23165166 We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis.
23103111 The discovery of this novel OCA2 variant adds to the body of evidence on the detrimental effects of OCA2 gene mutations on pigmentation and supports existing GWAS data on the relevance of the OCA2 gene in melanoma predisposition.
23063908 Although variants within OCA2 were tested for association, the 2.7kb deletion allele of OCA2 was not tested. This led us to hypothesize that the deletion allele may confer resistance to susceptibility
22042571 Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with oculocutaneous albinism (OCA)
21979861 In this paper I shall discuss the anatomy and genetics of normal eye colour, together with a wide and diverse range of conditions that may produce an alteration in normal iris pigmentation or form.
21541274 TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R.
21085994 Using quantitative multiplex fluorescent PCR and very high-resolution array-CGH focussed on the OCA2 gene and surrounding regions in 15q12, study identified 2 new gene deletions and 1 duplication in Oculocutaneous albinism type 2 patients.
20861488 TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation.
20801516 Observational study of genetic testing. (HuGE Navigator)
20629734 role in pigmentation characteristics in Spanish population
20629734 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20585627 Observational study of gene-disease association. (HuGE Navigator)
20457063 ). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407 in OCA2 and rs16891982 in MATP showed additional association with eye colours
20457063 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20308648 Observational study of gene-disease association. (HuGE Navigator)
20221248 The non-synonymous polymorphism rs1800414 (His615Arg) located within the OCA2 gene is significantly associated with skin pigmentation in this sample.
20221248 Observational study of gene-disease association. (HuGE Navigator)
20019752 Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19865097 Observational study of gene-disease association. (HuGE Navigator)
19710684 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19626598 In 5 israeli families a P gene mutation was detected.
19625176 Observational study of gene-disease association. (HuGE Navigator)
19472299 Three single nucleotide polymorphisms found within intron 1 of the OCA2 gene (rs7495174, rs4778241, rs4778138). 30 UTR region (rs1129038) of the HERC2 gene
19472299 Observational study of gene-disease association. (HuGE Navigator)
19384953 The OCA2 Arg419Gln is associated with basal cell carcinoma
19384953 Observational study of gene-disease association. (HuGE Navigator)
19382693 Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia
19382693 Observational study of genotype prevalence. (HuGE Navigator)
19340012 Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19320733 The variant allele of OCA2 R419Q (rs1800407) is associated with increased risk of malignant melanoma.
19320733 Observational study of gene-disease association. (HuGE Navigator)
19208107 It is concluded that OCA2 rs1800407 is associated with eye colour.
19208107 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19116314 OCA2 is targeted to and functions within melanosomes but that residence within melanosomes may be regulated by secondary or alternative targeting to lysosomes.
19060277 TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes.
19060277 Observational study of gene-disease association. (HuGE Navigator)
18839200 Observational study of genotype prevalence. (HuGE Navigator)
18683857 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18680187 Oculocutaneous albinism phenotype (OCA2) can be modified by mutation in TYRP1.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18650849 strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation, respectively
18636124 Observational study of gene-disease association. (HuGE Navigator)
18563784 Observational study of gene-disease association. (HuGE Navigator)
18528436 OCA2 and HERC2 have roles in hair color in Australian adolescents
18528436 Observational study of gene-disease association. (HuGE Navigator)
18463683 Observational study of gene-disease association. (HuGE Navigator)
18326704 Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1.
18252222 Observational study of gene-disease association. (HuGE Navigator)
18252221 Genome-wide association study of gene-disease association. (HuGE Navigator)
18093281 Variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.
17960121 Pink-eye-dilution gene mutations underlie oculocutaneous albinism in this family. Two known mutations in MC1R caused red hair color in one family member. No modifier effect of MC1R on P mutations could be deduced.
17952075 Genome-wide association study of gene-disease association. (HuGE Navigator)
17767372 3 different haplotypes (TAGCT, TAGTT and TAGCC with frequencies of 0.66, 0.28 and 0.06, respectively) associated with the mutation in the 53 OCA2 patients, while 11 different haplotypes were observed in the control group
17619204 results confirm that OCA2 is the major human iris color gene and suggest that using an empirical database-driven system, genotypes from a modest number of SNPs within this gene can be used to accurately predict iris melanin content from DNA
17570052 Observational study of genotype prevalence. (HuGE Navigator)
17568986 Observational study of genotype prevalence. (HuGE Navigator)
17568986 These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.
17236130 Observational study of gene-disease association. (HuGE Navigator)
17236130 Differences within the 5' proximal regulatory control region of the OCA2 gene alter expression or messenger RNA-transcript levels and may be responsible for eye-color and other pigmentary trait associations.
16453125 The macular hypoplasia has to be considered a concerted interaction with compound heterozygous mutations in the P gene manifesting a mild form of oculocutaneous albinism.
16417222 Observational study of genotype prevalence. (HuGE Navigator)
15889046 Observational study of gene-disease association. (HuGE Navigator)
15889046 we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing).
15712365 9 novel mutations and 12 novel polymorphisms associated with oculocutaneous albinism type II are reported.
12817591 A candidate gene for pigmentation.
12727022 two missense substitutions, A481T and Q799H in the P gene in oculocutaneous albinism
12579416 We show that OCA2 has measurable effects on skin pigmentation differences between the west African and west European parental populations.
12469324 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population
12163334 P gene, in part, determiontes normal phenotypic variation in human eye color and may represent an inherited biomarkers of cutaneous cancer risk
12028586 role of P protein and tyrosinase in oculocutaneous albinism
8875191 Human DNA sequences;hair colour

AA Sequence

MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSSWAPAGQEFAS      1 - 70
FLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLL     71 - 140
SREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALS    141 - 210
PLENYSVNLSSHVDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNP    211 - 280
RRSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIV    281 - 350
HRTLAAMLGSLAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG    351 - 420
RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNV    421 - 490
IIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKEPSEIVELKHEIHVWRLTAQR    491 - 560
ISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQEDKNWETNIQELQKKHRISDGILLAKCLTVL    561 - 630
GFVIFMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHL    631 - 700
IEYVGEQTALLIKMVPEEQRLIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMY    701 - 770
ALAFGACLGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN      771 - 838
//

Text Mined References (111)

PMID Year Title
25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
25809079 Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations.
25469862 2015 Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese.
25455140 2014 Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
25119903 2014 [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type ?].
24387780 2014 Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.
24361966 2014 Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
24096233 2014 SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
24023788 2013 Gene network analysis in a pediatric cohort identifies novel lung function genes.
23824587 2014 Computational screening of disease-associated mutations in OCA2 gene.
23601698 2013 Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model.
23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
23165166 2013 Association of melanogenesis genes with skin color variation among Japanese females.
23118974 2012 Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
23103111 2013 Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
23063908 2012 Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?
22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
22234890 2012 HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.
22133426 2011 Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.
22042571 2012 Molecular analysis of Korean patients with oculocutaneous albinism.
21979861 2012 Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris.
21712187 2011 Inter-chromosomal variation in the pattern of human population genetic structure.
21541274 2011 Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
20944644 2011 Genotype-phenotype associations and human eye color.
20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.
20806075 2010 Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20629734 2010 Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20601102 2010 Genetics of pigmentation in skin cancer--a review.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
20457063 2010 Human eye colour and HERC2, OCA2 and MATP.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20308648 2010 Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.
20221248 2010 Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
20019752 2010 Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
19772629 2009 Genomewide association study for onset age in Parkinson disease.
19710684 2010 Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19626598 2009 Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19472299 2009 Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
19384953 2009 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
19382693 2009 [Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia].
19340012 2009 Genome-wide association study of tanning phenotype in a population of European ancestry.
19320733 2009 Pigmentation-related genes and their implication in malignant melanoma susceptibility.
19208107 2009 Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19116314 2009 Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function.
19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
18839200 2009 Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual.
18683857 2008 Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
18680187 2008 Synergistic interaction of the OCA2 and OCA3 genes in a family.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18650849 2009 Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
18563784 2008 SLC45A2: a novel malignant melanoma-associated gene.
18528436 2008 Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.
18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
18252222 2008 A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
18252221 2008 Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
18172690 2008 Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
18093281 2008 Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method.
17960121 2007 Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
17767372 2007 Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.
17619204 2007 Multilocus OCA2 genotypes specify human iris colors.
17570052 2007 Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes.
17568986 2007 OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
17385796 2007 Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.
17236130 2007 A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16453125 2006 Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
16417222 2006 Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15262401 2004 Eye colour: portals into pigmentation genes and ancestry.
12876664 2003 MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
12817591 2003 Control of confounding of genetic associations in stratified populations.
12727022 2003 A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
12713581 2003 Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
12579416 2003 Skin pigmentation, biogeographical ancestry and admixture mapping.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.
12163334 2002 P gene as an inherited biomarker of human eye color.
12028586 2002 The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.
11601658 2001 Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1.
11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.
11179026 2001 In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.
10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
10671067 1998 Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.
10649493 2000 Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
9259203 1997 Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
8875191 1996 Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q.
8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
7920637 1994 African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
7874125 1994 Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
7762554 1995 Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
7601462 1995 Organization and sequence of the human P gene and identification of a new family of transport proteins.
1773534 1991 Absence of predictable phenotypic expression in proximal 15q duplications.
1509264 1992 The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.
1415228 1992 The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.