Browse OCA2

Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Melanosome membrane Multi-pass membrane protein
Domain PF03600 Citrate transporter
Function

Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.

> Gene Ontology
 
Biological Process GO:0006582 melanin metabolic process
GO:0006726 eye pigment biosynthetic process
GO:0006865 amino acid transport
GO:0007281 germ cell development
GO:0007283 spermatogenesis
GO:0007286 spermatid development
GO:0015801 aromatic amino acid transport
GO:0015828 tyrosine transport
GO:0015849 organic acid transport
GO:0018958 phenol-containing compound metabolic process
GO:0019748 secondary metabolic process
GO:0022412 cellular process involved in reproduction in multicellular organism
GO:0030318 melanocyte differentiation
GO:0042438 melanin biosynthetic process
GO:0042440 pigment metabolic process
GO:0042441 eye pigment metabolic process
GO:0043324 pigment metabolic process involved in developmental pigmentation
GO:0043473 pigmentation
GO:0043474 pigment metabolic process involved in pigmentation
GO:0044550 secondary metabolite biosynthetic process
GO:0046148 pigment biosynthetic process
GO:0046189 phenol-containing compound biosynthetic process
GO:0048066 developmental pigmentation
GO:0048069 eye pigmentation
GO:0048232 male gamete generation
GO:0048515 spermatid differentiation
GO:0050931 pigment cell differentiation
GO:1901615 organic hydroxy compound metabolic process
GO:1901617 organic hydroxy compound biosynthetic process
Molecular Function GO:0005302 L-tyrosine transmembrane transporter activity
GO:0005342 organic acid transmembrane transporter activity
GO:0015171 amino acid transmembrane transporter activity
GO:0015173 aromatic amino acid transmembrane transporter activity
GO:0015179 L-amino acid transmembrane transporter activity
GO:0046943 carboxylic acid transmembrane transporter activity
Cellular Component GO:0005765 lysosomal membrane
GO:0010008 endosome membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0033162 melanosome membrane
GO:0042470 melanosome
GO:0044440 endosomal part
GO:0045009 chitosome
GO:0048770 pigment granule
GO:0098852 lytic vacuole membrane
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-5662702: Melanin biosynthesis
R-HSA-1430728: Metabolism
R-HSA-71291: Metabolism of amino acids and derivatives
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between OCA2 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of OCA2 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of OCA2 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.1360.89
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)652.0090.176
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-1.2670.387
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.6960.241
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.9950.333
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.3210.785
729033130MelanomaallAnti-PD-1 (nivolumab) 26232.4990.0334
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15112.2050.191
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11122.9140.0988
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.4450.305
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.0230.967
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.7430.0491
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of OCA2 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.703.70.27
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.703.70.314
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21179.509.50.492
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)86250250.473
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91606.2-6.21
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59011.1-11.11
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38275.305.30.507
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22139.109.10.519
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of OCA2. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of OCA2. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by OCA2.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of OCA2. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of OCA2 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between OCA2 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolOCA2
Nameoculocutaneous albinism II
Aliases BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ......
Chromosomal Location15q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting OCA2 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.