Gene: OCA2

4948
BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1
OCA2 melanosomal transmembrane protein
protein-coding
15q12-q13.1
Ensembl:ENSG00000104044 MIM:611409 Vega:OTTHUMG00000128871 UniprotKB:Q04671
NG_009846.1
PubMed|SNP Mapped
2   ANCO-SNPs
ND|AD
2   
NA (AD)  NA (ND)   (Frontal_Cortex)
2.040e-3 (AD)  3.352e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs4640131chr15:28014717 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs17567131chr15:28006367 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
RYR20.902
RASGRP10.888
PPIP5K10.886
GREM20.885
EFNB30.885
GDA0.884
KIAA13240.883
ERC20.881
CACNA1B0.88
GPR1580.879

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
YES1-0.604
COPZ2-0.582
RAB13-0.558
REST-0.549
RNF135-0.548
MBNL3-0.546
ASB4-0.544
HEY2-0.544
CHST14-0.544
MYL3-0.541

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0306925,6-dihydroxy-2-indolylcarboxylic acid"OCA2 gene mutant form results in decreased abundance of 5,6-dihydroxy-2-indolylcarboxylic acid"12064459
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of OCA2 mRNA22100608
D000447AldehydesAldehydes results in increased expression of OCA2 mRNA25014914
D001151ArsenicArsenic affects the methylation of OCA2 gene25304211
C547126AZM551248AZM551248 results in increased expression of OCA2 mRNA22323515
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of OCA2 mRNA21871943
D004958EstradiolEstradiol affects the expression of OCA2 mRNA23557687
C018475butyraldehydebutyraldehyde results in increased expression of OCA2 mRNA26079696
D019256Cadmium ChlorideCadmium Chloride results in increased expression of OCA2 mRNA21457566
D003548CysteinyldopaOCA2 gene mutant form results in decreased abundance of Cysteinyldopa12064459
D005038EthylnitrosoureaEthylnitrosourea results in increased mutagenesis of OCA2 gene17174358
D005047EtoposideOCA2 protein affects the susceptibility to Etoposide16217747
D008770MethylnitrosoureaMethylnitrosourea results in increased mutagenesis of OCA2 gene10517996|1717435
D009532NickelNickel results in decreased expression of OCA2 mRNA24768652
C046012pentanalpentanal results in increased expression of OCA2 mRNA26079696
C005556propionaldehydepropionaldehyde results in increased expression of OCA2 mRNA26079696
C071226pyrrole-2,3,5-tricarboxylic acid"OCA2 gene mutant form results in decreased abundance of pyrrole-2,3,5-tricarboxylic acid"12064459|9548375
D012822Silicon DioxideSilicon Dioxide analog results in decreased expression of OCA2 mRNA25895662
D014635Valproic AcidValproic Acid affects the expression of OCA2 mRNA25979313
D014635Valproic AcidValproic Acid results in increased expression of OCA2 mRNA23179753|2718838
D014635Valproic AcidValproic Acid results in increased methylation of OCA2 gene29154799

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005215transporter activity-TAS8302318  8421497  
GO:0005302L-tyrosine transmembrane transporter activity-TAS7601462  
GO:0005515protein binding-IPI19116314  
GO ID GO Term Qualifier Evidence PubMed
GO:0006726eye pigment biosynthetic process-TAS8421497  
GO:0007286spermatid development-IEA-  
GO:0008283cell proliferation-IEA-  
GO:0015828tyrosine transport-IEA-  
GO:0030318melanocyte differentiation-IEA-  
GO:0042438melanin biosynthetic process-IEA-  
GO:0055085transmembrane transport-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-TAS7601462  
GO:0005765lysosomal membrane-IDA19116314  
GO:0005789endoplasmic reticulum membrane-IDA19116314  
GO:0010008endosome membrane-IDA19116314  
GO:0016021integral component of membrane-IEA-  
GO:0033162melanosome membrane-IDA19116314  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-1430728MetabolismTAS
R-HSA-5662702Melanin biosynthesisTAS
R-HSA-71291Metabolism of amino acids and derivativesTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
25921801Eye color: A potential indicator of alcohol dependence risk in European Americans. (2015 Jul)Sulovari AAm J Med Genet B Neuropsychiatr Genet
27459457Epidemiological Assessments of Skin Outcomes in the Nurses' Health Studies. (2016 Sep)Li WQAm J Public Health