OCA2 Antibody

1. The results of this study is the first to show an association between OCA2 variants and time to first cSCC post-transplant. PMID: 28456133
2. Evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population. PMID: 28081795
3. We analyzed five SNPs located in the 44.2 kb region and three SNPs outside this region with strong selective signals. Under the additive genetic model, we detected a significant association of rs1800414 with skin pigmentation for both exposed and unexposed areas consistent with a previous association analysis of rs1800414 No significant association was observed for the other seven SNPs (P > 0.05) PMID: 26744415
4. 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. PMID: 25809079
5. 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. PMID: 25919014
6. variations in OCA2 might have developed by diversifying selection. PMID: 25469862
7. 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 PMID: 25455140
8. REVIEW: current hypotheses and the available data on the mechanism of OCA2 transcriptional regulation and how this is influenced by genetic variation PMID: 24387780
9. 4 heterozygous mutations of the P gene were found two Chinese families affected with oculocutaneous albinism type . PMID: 25119903
10. 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. PMID: 23824587
11. 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. PMID: 24361966
12. 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 PMID: 23601698
13. 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. PMID: 23165166
14. 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. PMID: 23103111
15. 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 PMID: 23063908
16. 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) PMID: 22042571
17. 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. PMID: 21979861
18. 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. PMID: 21085994
19. ). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407 in OCA2 and rs16891982 in MATP showed additional association with eye colours PMID: 20457063
20. role in pigmentation characteristics in Spanish population PMID: 20629734
21. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. PMID: 20019752
22. The non-synonymous polymorphism rs1800414 (His615Arg) located within the OCA2 gene is significantly associated with skin pigmentation in this sample. PMID: 20221248
23. role of P protein and tyrosinase in oculocutaneous albinism PMID: 12028586
24. P gene, in part, determiontes normal phenotypic variation in human eye color and may represent an inherited biomarkers of cutaneous cancer risk PMID: 12163334
25. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population PMID: 12469324
26. We show that OCA2 has measurable effects on skin pigmentation differences between the west African and west European parental populations. PMID: 12579416
27. two missense substitutions, A481T and Q799H in the P gene in oculocutaneous albinism PMID: 12727022
28. A candidate gene for pigmentation. PMID: 12817591
29. 9 novel mutations and 12 novel polymorphisms associated with oculocutaneous albinism type II are reported. PMID: 15712365
30. we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing). PMID: 15889046
31. 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. PMID: 16453125
32. 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. PMID: 17236130
33. These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations. PMID: 17568986
34. 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 PMID: 17619204
35. 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 PMID: 17767372
36. 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. PMID: 17960121
37. 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. PMID: 18093281
38. Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1. PMID: 18326704
39. OCA2 and HERC2 have roles in hair color in Australian adolescents PMID: 18528436
40. strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation, respectively PMID: 18650849
41. Oculocutaneous albinism phenotype (OCA2) can be modified by mutation in TYRP1. PMID: 18680187
42. TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes. PMID: 19060277
43. OCA2 is targeted to and functions within melanosomes but that residence within melanosomes may be regulated by secondary or alternative targeting to lysosomes. PMID: 19116314
44. It is concluded that OCA2 rs1800407 is associated with eye colour. PMID: 19208107
45. The variant allele of OCA2 R419Q (rs1800407) is associated with increased risk of malignant melanoma. PMID: 19320733
46. Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia PMID: 19382693
47. The OCA2 Arg419Gln is associated with basal cell carcinoma PMID: 19384953
48. Three single nucleotide polymorphisms found within intron 1 of the OCA2 gene (rs7495174, rs4778241, rs4778138). 30 UTR region (rs1129038) of the HERC2 gene PMID: 19472299
49. In 5 israeli families a P gene mutation was detected. PMID: 19626598
50. Human DNA sequences;hair colour PMID: 8875191

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HGNC: 8101

OMIM: 203200

KEGG: hsa:4948

STRING: 9606.ENSP00000346659

UniGene: Hs.654411