Property Summary

NCBI Gene PubMed Count 107
Grant Count 131
R01 Count 82
Funding $24,606,961.32
PubMed Score 281.22
PubTator Score 372.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Synonym

Accession Q04671 Q15211 Q15212 Q96EN1 Q9UMI5
Symbols P
BEY
PED
BEY1
BEY2
BOCA
EYCL
HCL3
EYCL2
EYCL3
SHEP1
D15S12

Gene

PANTHER Protein Class (2)

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.
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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.
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