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| TissGeneSummary for OCA2 |
 Gene summary |
| Basic gene information | Gene symbol | OCA2 |
| Gene name | oculocutaneous albinism II | |
| Synonyms | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 | |
| Cytomap | UCSC genome browser: 15q | |
| Type of gene | protein-coding | |
| RefGenes | NM_000275.2, NM_001300984.1, | |
| Description | P proteinP-proteineye color 2 (central brown)eye color 3 (brown)hair color 3 (brown)melanocyte-specific transporter proteinoculocutaneous albinism II (pink-eye dilution homolog, mouse)pink-eyed dilution protein homologtotal brown iris pigmentation | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 611409 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000104044 | ||
| HPRD : 01945 | ||
| Vega : OTTHUMG00000128871 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_OCA2 | |
| BioGPS: 4948 | ||
| Pathway | NCI Pathway Interaction Database: OCA2 | |
| KEGG: OCA2 | ||
| REACTOME: OCA2 | ||
| Pathway Commons: OCA2 | ||
| Context | iHOP: OCA2 | |
| ligand binding site mutation search in PubMed: OCA2 | ||
| UCL Cancer Institute: OCA2 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Soft tissueThyroid gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SARCTHCA | |
| Reference showing the relevant tissue of OCA2 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for OCA2 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| BRCA | -3.018021201 | -0.799367692 | -2.218653509 | 9.67E-20 | 6.69E-19 |
| PRAD | -2.10611894 | -0.376349709 | -1.729769231 | 5.97E-08 | 5.95E-07 |
| KIRP | -2.151877834 | -0.252915334 | -1.8989625 | 7.11E-06 | 3.06E-05 |
| KICH | -2.466618709 | -0.210686709 | -2.255932 | 8.19E-06 | 2.64E-05 |
| THCA | -0.544495048 | 3.886969358 | -4.431464407 | 2.39E-22 | 1.47E-20 |
| HNSC | -1.403225872 | 1.121843895 | -2.525069767 | 6.59E-10 | 1.11E-08 |
| LUAD | -1.643560916 | -0.523717813 | -1.119843103 | 0.000125 | 0.000311528 |
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| TissGene-miRNA for OCA2 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for OCA2 |
| TissGeneSNV for OCA2 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.G795W | LUAD | 2 |
| p.S641L | SKCM | 2 |
| p.R111Q | COAD | 1 |
| p.D758Y | LUAD | 1 |
| p.S307F | SKCM | 1 |
| p.F524L | SKCM | 1 |
| p.D258E | LUAD | 1 |
| p.R373I | UCEC | 1 |
| p.N754K | STAD | 1 |
| p.V341I | BLCA | 1 |
| p.R266W | READ | 1 |
| p.R416G | LUSC | 1 |
| p.L530F | SKCM | 1 |
| p.G57R | LIHC | 1 |
| p.D408N | PCPG | 1 |
| p.A14V | STAD | 1 |
| p.A506V | PAAD | 1 |
| p.A16V | STAD | 1 |
| p.L520F | HNSC | 1 |
| p.S50C | BLCA | 1 |
| p.T450M | BLCA | 1 |
| p.R676G | LUAD | 1 |
| p.G34S | LGG | 1 |
| p.F814L | ESCA | 1 |
| p.S148C | BLCA | 1 |
| p.D758N | BLCA | 1 |
| p.R572H | LGG | 1 |
| p.R555H | STAD | 1 |
| p.V553I | LUSC | 1 |
| p.E798* | LUAD | 1 |
| p.R573C | BLCA | 1 |
| p.C517S | LUAD | 1 |
| p.R165Q | STAD | 1 |
| p.P750S | SKCM | 1 |
| p.D669N | BLCA | 1 |
| p.E702X | READ | 1 |
| p.L140Q | LGG | 1 |
| p.M817I | LUAD | 1 |
| p.Q657E | LUAD | 1 |
| p.R352* | LUAD | 1 |
| p.L521Q | LUAD | 1 |
| p.A16V | COAD | 1 |
| p.R246S | LUAD | 1 |
| p.L630V | LUSC | 1 |
| p.L755R | UCEC | 1 |
| p.R572C | COAD | 1 |
| p.R305W | COAD | 1 |
| p.V553I | STAD | 1 |
| p.G245R | LUAD | 1 |
| p.R560C | COAD | 1 |
| p.V751M | ESCA | 1 |
| p.M84I | COAD | 1 |
| p.A69S | HNSC | 1 |
| p.W532C | LUAD | 1 |
| p.L31R | STAD | 1 |
| p.A433T | KIRC | 1 |
| p.P525L | LUSC | 1 |
| p.A506S | LUSC | 1 |
| p.L316I | HNSC | 1 |
| p.R566C | BLCA | 1 |
| p.L518F | LUAD | 1 |
| p.K548N | LUAD | 1 |
| p.E610X | STAD | 1 |
| p.V398L | COAD | 1 |
| p.E808* | UCEC | 1 |
| p.V833L | OV | 1 |
| p.W423* | LIHC | 1 |
| p.G485R | UCEC | 1 |
| p.V792M | HNSC | 1 |
| p.R40Q | LUAD | 1 |
| p.V300L | LUAD | 1 |
| p.R167H | BRCA | 1 |
| p.S736L | COAD | 1 |
| p.A14T | BLCA | 1 |
| p.G240V | STAD | 1 |
| p.A587T | PRAD | 1 |
| p.V379M | UCEC | 1 |
| p.V833M | UCEC | 1 |
| p.A787T | STAD | 1 |
| p.L183M | LUAD | 1 |
| p.A411D | STAD | 1 |
| p.V553L | GBM | 1 |
| p.R421W | HNSC | 1 |
| p.T482S | OV | 1 |
| p.Y197S | KIRC | 1 |
| p.A339T | UCEC | 1 |
| p.L388M | ESCA | 1 |
| p.V350L | LUSC | 1 |
| p.V751M | UCEC | 1 |
| p.Q58H | LUAD | 1 |
| p.V115A | UCEC | 1 |
| p.E293Q | HNSC | 1 |
| p.R111W | STAD | 1 |
| p.A433T | LGG | 1 |
| p.W532R | LUAD | 1 |
| p.A313V | STAD | 1 |
| p.V223M | PAAD | 1 |
| p.S820P | STAD | 1 |
| p.P464L | UCEC | 1 |
| p.Q58H | HNSC | 1 |
| p.G234V | MESO | 1 |
| p.G393C | LUSC | 1 |
| p.A564T | PAAD | 1 |
| p.T450K | KIRC | 1 |
| p.G507R | SARC | 1 |
| p.R111W | GBM | 1 |
| p.E610* | STAD | 1 |
| p.R167C | UCEC | 1 |
| p.E706G | STAD | 1 |
| p.E693G | STAD | 1 |
| p.R555H | DLBC | 1 |
| p.F804L | UCEC | 1 |
| p.S79Y | BLCA | 1 |
| p.L586I | CESC | 1 |
| p.M816L | LUSC | 1 |
| p.A558D | UCEC | 1 |
| p.S283G | SKCM | 1 |
| p.A680T | ESCA | 1 |
| p.E702X | COAD | 1 |
| p.R167H | STAD | 1 |
| p.C410R | BLCA | 1 |
| p.L752I | LUAD | 1 |
| p.R572C | DLBC | 1 |
| p.G645D | UCEC | 1 |
| p.S153F | SKCM | 1 |
| p.M425L | HNSC | 1 |
| p.E284K | BLCA | 1 |
| p.H800R | SKCM | 1 |
| p.Q268H | UCEC | 1 |
| p.A233E | PAAD | 1 |
| p.R421W | STAD | 1 |
| p.S641L | UCEC | 1 |
| p.I634F | LUAD | 1 |
| p.G325R | SKCM | 1 |
| p.E702* | LUAD | 1 |
| p.G654C | LUAD | 1 |
| p.P644L | SKCM | 1 |
| p.S736L | SKCM | 1 |
| p.T482P | HNSC | 1 |
| p.P114L | SKCM | 1 |
| p.A208T | UCEC | 1 |
| p.Y342X | STAD | 1 |
| p.V412E | LUSC | 1 |
| p.E471D | STAD | 1 |
| p.V435L | LUAD | 1 |
| p.E403Q | LUAD | 1 |
| p.H549Q | LUSC | 1 |
| p.R416W | LIHC | 1 |
| p.G577V | SKCM | 1 |
| p.A365S | LUSC | 1 |
| p.F474V | STAD | 1 |
| p.P47L | BLCA | 1 |
| p.T450M | COAD | 1 |
| p.V643A | ESCA | 1 |
| p.Q309* | OV | 1 |
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| TissGeneCNV for OCA2 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for OCA2 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| TCGAfusionPortal | PRADA | BRCA | TCGA-E9-A22G-01A | GABRG3-OCA2 | In-frame | Chr15:27271968 | Chr15:28211968 |
| TCGAfusionPortal | PRADA | LUSC | TCGA-22-5489-01A | GABRG3-OCA2 | Out-of-frame | Chr15:27271968 | Chr15:28000618 |
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| TissGeneNet for OCA2 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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| TissGeneProg for OCA2 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for OCA2 |
| TissGeneDrug for OCA2 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for OCA2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0078918 | Albinism, Oculocutaneous | 33 | BeFree,GAD,LHGDN |
| umls:C0268495 | Oculocutaneous albinism type 2 | 18 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0025202 | melanoma | 14 | BeFree,GAD |
| umls:C0001916 | Albinism | 8 | BeFree |
| umls:C0162635 | Angelman Syndrome | 8 | BeFree |
| umls:C0751748 | Nonketotic Hyperglycinemia | 8 | BeFree |
| umls:C0162835 | Hypopigmentation disorder | 6 | BeFree |
| umls:C0024141 | Lupus Erythematosus, Systemic | 5 | BeFree |
| umls:C0032897 | Prader-Willi Syndrome | 5 | BeFree |
| umls:C0078917 | Albinism, Ocular | 5 | BeFree,LHGDN |
| umls:C1876214 | ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 5 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 4 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | BeFree |
| umls:C0041234 | Chagas Disease | 4 | BeFree |
| umls:C0678222 | Breast Carcinoma | 4 | BeFree |
| umls:C0007114 | Malignant neoplasm of skin | 3 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 3 | BeFree,GAD |
| umls:C0027819 | Neuroblastoma | 3 | BeFree |
| umls:C0034494 | Rabies (disorder) | 3 | BeFree |
| umls:C0037286 | Skin Neoplasms | 3 | GAD |
| umls:C0700095 | Central neuroblastoma | 3 | BeFree |
| umls:C0006023 | Borna Disease | 2 | BeFree |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 2 | BeFree |
| umls:C0017636 | Glioblastoma | 2 | BeFree |
| umls:C0019163 | Hepatitis B | 2 | BeFree |
| umls:C0025007 | Measles | 2 | BeFree |
| umls:C0079504 | Hermanski-Pudlak Syndrome | 2 | BeFree,GAD |
| umls:C0268503 | Autosomal recessive ocular albinism | 2 | BeFree |
| umls:C0596263 | Carcinogenesis | 2 | BeFree |
| umls:C3811653 | Experimental Organism Basal Cell Carcinoma | 2 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0007115 | Malignant neoplasm of thyroid | 1 | BeFree |
| umls:C0007117 | Basal cell carcinoma | 1 | GAD |
| umls:C0007134 | Renal Cell Carcinoma | 1 | BeFree |
| umls:C0007965 | Chediak-Higashi Syndrome | 1 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
| umls:C0018799 | Heart Diseases | 1 | BeFree |
| umls:C0022602 | Actinic keratosis | 1 | BeFree |
| umls:C0023434 | Chronic Lymphocytic Leukemia | 1 | BeFree |
| umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
| umls:C0024121 | Lung Neoplasms | 1 | BeFree |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
| umls:C0026780 | Mumps | 1 | BeFree |
| umls:C0027960 | Nevus | 1 | BeFree |
| umls:C0027962 | Melanocytic nevus | 1 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
| umls:C0030389 | Parainfluenza | 1 | BeFree |
| umls:C0031069 | Familial Mediterranean Fever | 1 | BeFree |
| umls:C0035309 | Retinal Diseases | 1 | GAD |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0042769 | Virus Diseases | 1 | BeFree |
| umls:C0080024 | Piebaldism | 1 | BeFree |
| umls:C0151779 | Cutaneous Melanoma | 1 | BeFree |
| umls:C0178874 | Tumor Progression | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | GAD |
| umls:C0266999 | Vesicular Stomatitis | 1 | BeFree |
| umls:C0268497 | Brown oculocutaneous albinism | 1 | BeFree,CLINVAR |
| umls:C0346156 | Benign neoplasm of breast | 1 | BeFree |
| umls:C0549473 | Thyroid carcinoma | 1 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
| umls:C1456781 | Benign melanocytic nevus | 1 | BeFree |
| umls:C1512419 | Hereditary Melanoma | 1 | BeFree |
| umls:C1519346 | Skin Carcinogenesis | 1 | BeFree |
| umls:C1519689 | Tumor Promotion | 1 | BeFree |
| umls:C1709246 | Non-Neoplastic Disorder | 1 | BeFree |
| umls:C3665593 | Melanocytic nevus of skin | 1 | BeFree |
| umls:C1856895 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 | 0 | CLINVAR |
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