Summary | |
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Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
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. |
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 | - |
Reactome |
R-HSA-5662702: Melanin biosynthesis R-HSA-1430728: Metabolism R-HSA-71291: Metabolism of amino acids and derivatives |
Summary | |
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Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
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. |
There is no record. |
Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
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
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Statistical results of OCA2 in screening data sets for detecting immune reponses.
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Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
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 |
Points in the above scatter plot represent the expression difference of OCA2 in various data sets.
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Points in the above scatter plot represent the mutation difference of OCA2 in various data sets.
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Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
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. |
Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
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 |
Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
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 |
Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of OCA2 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between OCA2 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | OCA2 |
Name | oculocutaneous albinism II |
Aliases | BEY2; EYCL; BEY; BEY1; melanocyte-specific transporter protein; P-protein; D15S12; EYCL3; EYCL2; oculocutane ...... |
Chromosomal Location | 15q12 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting OCA2 collected from DrugBank database. |
There is no record. |