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| TissGeneSummary for GUCY2D |
 Gene summary |
| Basic gene information | Gene symbol | GUCY2D |
| Gene name | guanylate cyclase 2D, membrane (retina-specific) | |
| Synonyms | CORD5|CORD6|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC | |
| Cytomap | UCSC genome browser: 17p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000180.3, | |
| Description | ROS-GCcone rod dystrophy 6guanylate cyclase 2D, retinalretinal guanylate cyclase 1retinal guanylyl cyclase 1rod outer segment membrane guanylate cyclase | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 600179 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000132518 | ||
| HPRD : 02550 | ||
| Vega : OTTHUMG00000108169 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GUCY2D | |
| BioGPS: 3000 | ||
| Pathway | NCI Pathway Interaction Database: GUCY2D | |
| KEGG: GUCY2D | ||
| REACTOME: GUCY2D | ||
| Pathway Commons: GUCY2D | ||
| Context | iHOP: GUCY2D | |
| ligand binding site mutation search in PubMed: GUCY2D | ||
| UCL Cancer Institute: GUCY2D | ||
| 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) | TestisEye | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCTUVM | |
| Reference showing the relevant tissue of GUCY2D | ||
| Description by TissGene annotations | Cancer gene | |
| * 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 GUCY2D |
| 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 |
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| TissGene-miRNA for GUCY2D |
| 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 GUCY2D |
| TissGeneSNV for GUCY2D |
| 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.A52S | COAD | 5 |
| p.D774N | SKCM | 2 |
| p.P437S | SKCM | 2 |
| p.P938S | UCEC | 1 |
| p.R722Q | LIHC | 1 |
| p.D270N | UCEC | 1 |
| p.V487M | SKCM | 1 |
| p.L794R | ESCA | 1 |
| p.T867M | STAD | 1 |
| p.Y555X | COAD | 1 |
| p.S981L | UCEC | 1 |
| p.K563M | LIHC | 1 |
| p.P792L | HNSC | 1 |
| p.Q341P | STAD | 1 |
| p.E363K | SKCM | 1 |
| p.D452N | BRCA | 1 |
| p.G375R | BLCA | 1 |
| p.R383W | HNSC | 1 |
| p.V960M | UCEC | 1 |
| p.E779K | SKCM | 1 |
| p.A1006T | STAD | 1 |
| p.R302C | SKCM | 1 |
| p.E877Q | BLCA | 1 |
| p.R761Q | PAAD | 1 |
| p.G375E | SKCM | 1 |
| p.K806N | COAD | 1 |
| p.R1008H | PRAD | 1 |
| p.S272F | SKCM | 1 |
| p.P972L | SKCM | 1 |
| p.R964C | STAD | 1 |
| p.R761W | STAD | 1 |
| p.L1056I | ESCA | 1 |
| p.R433Q | COAD | 1 |
| p.Y1035S | KIRP | 1 |
| p.H435Q | BRCA | 1 |
| p.G526E | SKCM | 1 |
| p.R534H | THYM | 1 |
| p.R313C | LUAD | 1 |
| p.A409T | ESCA | 1 |
| p.P769S | LAML | 1 |
| p.S298N | COAD | 1 |
| p.T867K | LUAD | 1 |
| p.E692K | SKCM | 1 |
| p.Q628R | STAD | 1 |
| p.P753L | SKCM | 1 |
| p.P289L | HNSC | 1 |
| p.R528L | ACC | 1 |
| p.E790Q | CESC | 1 |
| p.D907N | SKCM | 1 |
| p.S272F | HNSC | 1 |
| p.D509N | COAD | 1 |
| p.R490Q | KIRP | 1 |
| p.L311F | STAD | 1 |
| p.G267S | STAD | 1 |
| p.L1028I | UCEC | 1 |
| p.G348S | COAD | 1 |
| p.A379G | SKCM | 1 |
| p.V242G | LUAD | 1 |
| p.D728N | SKCM | 1 |
| p.M932R | SKCM | 1 |
| p.T962A | BLCA | 1 |
| p.G396E | SKCM | 1 |
| p.R588Q | THYM | 1 |
| p.T55M | ACC | 1 |
| p.A726V | HNSC | 1 |
| p.M798V | STAD | 1 |
| p.L782H | COAD | 1 |
| p.D279N | KIRC | 1 |
| p.G868R | HNSC | 1 |
| p.D508Y | BLCA | 1 |
| p.R574C | STAD | 1 |
| p.R838H | COAD | 1 |
| p.C391Y | UCEC | 1 |
| p.A185T | STAD | 1 |
| p.V960M | COAD | 1 |
| p.Q633* | BLCA | 1 |
| p.P289S | HNSC | 1 |
| p.R1040P | CESC | 1 |
| p.E897K | BLCA | 1 |
| p.R660Q | SKCM | 1 |
| p.R365W | KIRP | 1 |
| p.A703V | STAD | 1 |
| p.Q758L | SKCM | 1 |
| p.S1023T | LUAD | 1 |
| p.P769T | CHOL | 1 |
| p.Q495R | LUAD | 1 |
| p.P447R | GBM | 1 |
| p.G688E | SKCM | 1 |
| p.R326C | COAD | 1 |
| p.R761Q | BLCA | 1 |
| p.W640S | STAD | 1 |
| p.W1055C | ACC | 1 |
| p.V321M | STAD | 1 |
| p.R433Q | CESC | 1 |
| p.R490Q | LUSC | 1 |
| p.H381Q | LUSC | 1 |
| p.Q786* | HNSC | 1 |
| p.L468I | UCEC | 1 |
| p.R812W | STAD | 1 |
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| TissGeneCNV for GUCY2D |
| 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 GUCY2D |
| 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 |
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| TissGeneNet for GUCY2D |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| COAD (tumor) | COAD (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| HNSC (tumor) | HNSC (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| KICH (tumor) | KICH (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| KIRC (tumor) | KIRC (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| KIRP (tumor) | KIRP (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| LIHC (tumor) | LIHC (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| LUAD (tumor) | LUAD (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| LUSC (tumor) | LUSC (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| STAD (tumor) | STAD (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| THCA (tumor) | THCA (normal) |
| GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (tumor) | GUCY2D, S100B, FYN, RGS9, GUCA1B, GUCA2B, GUCA1A (normal) |
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| TissGeneProg for GUCY2D |
| 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 GUCY2D |
| TissGeneDrug for GUCY2D |
| 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 GUCY2D |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0339527 | Leber Congenital Amaurosis | 36 | BeFree,ORPHANET |
| umls:C0035334 | Retinitis Pigmentosa | 30 | BeFree,CTD_human,LHGDN |
| umls:C1866293 | Retinal cone dystrophy 2 | 8 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C2931258 | Amaurosis congenita of Leber, type 1 | 7 | BeFree,CLINVAR,CTD_human,UNIPROT |
| umls:C0035309 | Retinal Diseases | 5 | BeFree,GAD |
| umls:C0376288 | Amaurosis | 5 | BeFree |
| umls:C0456909 | Blind Vision | 5 | GAD,LHGDN |
| umls:C0035304 | Retinal Degeneration | 4 | BeFree,GAD |
| umls:C0854723 | Retinal Dystrophies | 3 | BeFree |
| umls:C1867326 | RETINAL CONE DYSTROPHY 1 | 3 | BeFree |
| umls:C0730290 | Cone dystrophy | 2 | BeFree |
| umls:C1998028 | Photoreceptor degeneration | 2 | BeFree |
| umls:C3665346 | Unspecified visual loss | 2 | BeFree |
| umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | GAD |
| umls:C0008370 | Cholestasis | 1 | BeFree |
| umls:C0020490 | Hyperopia | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0149931 | Migraine Disorders | 1 | BeFree |
| umls:C0339530 | Progressive cone-rod dystrophy | 1 | BeFree |
| umls:C0812413 | Malignant Pleural Mesothelioma | 1 | BeFree |
| umls:C0917796 | Optic Atrophy, Hereditary, Leber | 1 | GAD |
| umls:C1263846 | Attention deficit hyperactivity disorder | 1 | BeFree |
| umls:C1536451 | Central areolar choroidal sclerosis | 1 | BeFree,ORPHANET |
| umls:C1832976 | Cone-Rod Dystrophy 5 | 1 | BeFree,CTD_human |
| umls:C1833564 | CONE-ROD DYSTROPHY 1 (disorder) | 1 | BeFree |
| umls:C1857743 | LEBER CONGENITAL AMAUROSIS 12 (disorder) | 1 | BeFree |
| umls:C1858080 | Retinal Dystrophy, Early Onset Severe | 1 | BeFree |
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