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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for GUCY2D |
Basic gene info. | 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 | |
Genomic location | chr17 :7905987-7923658 | |
Type of gene | protein-coding | |
RefGenes | NM_000180.3, | |
Ensembl id | ENSG00000132518 | |
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: Q02846 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GUCY2D | |
BioGPS: 3000 | ||
Gene Expression Atlas: ENSG00000132518 | ||
The Human Protein Atlas: ENSG00000132518 | ||
Pathway | NCI Pathway Interaction Database: GUCY2D | |
KEGG: GUCY2D | ||
REACTOME: GUCY2D | ||
ConsensusPathDB | ||
Pathway Commons: GUCY2D | ||
Metabolism | MetaCyc: GUCY2D | |
HUMANCyc: GUCY2D | ||
Regulation | Ensembl's Regulation: ENSG00000132518 | |
miRBase: chr17 :7,905,987-7,923,658 | ||
TargetScan: NM_000180 | ||
cisRED: ENSG00000132518 | ||
Context | iHOP: GUCY2D | |
cancer metabolism search in PubMed: GUCY2D | ||
UCL Cancer Institute: GUCY2D | ||
Assigned class in ccmGDB | B - This gene belongs to cancer gene. |
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Phenotypic Information for GUCY2D(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: GUCY2D |
Familial Cancer Database: GUCY2D |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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KEGG_PURINE_METABOLISM |
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OMIM | 204000; phenotype. 600179; gene. 601777; phenotype. |
Orphanet | 1872; Cone rod dystrophy. 65; Leber congenital amaurosis. 75377; Central areolar choroidal dystrophy. |
Disease | KEGG Disease: GUCY2D |
MedGen: GUCY2D (Human Medical Genetics with Condition) | |
ClinVar: GUCY2D | |
Phenotype | MGI: GUCY2D (International Mouse Phenotyping Consortium) |
PhenomicDB: GUCY2D |
Mutations for GUCY2D |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows GUCY2D related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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Stat. for Non-Synonymous SNVs (# total SNVs=0) | (# total SNVs=0) |
(# total SNVs=0) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 3 | 3 |   | 13 | 1 |   | 5 |   | 2 | 1 | 1 | 5 | 3 |   |   |   | 17 | 11 |   | 7 |
# mutation | 3 | 3 |   | 14 | 1 |   | 6 |   | 2 | 1 | 1 | 5 | 3 |   |   |   | 18 | 14 |   | 10 |
nonsynonymous SNV | 2 | 2 |   | 12 | 1 |   | 4 |   | 1 | 1 | 1 | 3 | 2 |   |   |   | 9 | 13 |   | 7 |
synonymous SNV | 1 | 1 |   | 3 |   |   | 2 |   | 1 |   |   | 2 | 1 |   |   |   | 9 | 1 |   | 3 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr17:7907241 | p.S272F | 2 |
chr17:7918754 | p.R761W | 2 |
chr17:7907263 | p.R383R | 2 |
chr17:7909801 | p.E265K | 2 |
chr17:7917215 | p.V960M | 2 |
chr17:7910813 | p.R433Q | 1 |
chr17:7918671 | p.G597G | 1 |
chr17:7915794 | p.Q758L | 1 |
chr17:7909696 | p.R964C | 1 |
chr17:7909994 | p.H435Q | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for GUCY2D |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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ALOX15B,ARRDC1,TMEM256,DCXR,DERL3,EPB42,GALM, GUCY2D,HAAO,LENG1,LENG9,MMAB,MRPL41,MRPL53, MVK,NDUFA3,PATE3,RABEP2,SLC25A1,TP53TG1,ZNF580 | ACOX3,ARSD,C9orf152,CAPN13,CCDC57,CYP2J2,DLG3, EPHA1,FAM174B,GPR39,GUCY2D,IRX3,KIAA0319L,KLHL13, LRRC48,MST1R,PIGO,PSD4,SEC16A,SPDEF,STYK1 | ||||
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AMPH,BPIFB2,CDH4,CLEC2A,CLEC2B,ELOVL2,BRINP3, GUCY2D,KCNJ9,LRP1B,NR0B1,BPIFA1,REG1B,REG3A, SDC4P,SERPINA12,SERPINA3,T,AGMO,TRIM17,ZIC1 | AMPD1,C10orf91,C14orf183,HEXA-AS1,CD163L1,EMR4P,ENPP6, FAM135B,GUCY2D,HTR7,IL31,LCN8,LHX1,MMP26, LINC00112,OR6X1,PRM2,PSG7,PTCRA,SNORA11E,VSTM2A |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for GUCY2D |
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DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA187; -. |
Organism-specific databases | CTD | 3000; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00131 | guanylate cyclase 2D, membrane (retina-specific) | approved; nutraceutical | Adenosine monophosphate | ![]() | ![]() |
DB00125 | guanylate cyclase 2D, membrane (retina-specific) | approved; nutraceutical | L-Arginine | ![]() | ![]() |
DB00155 | guanylate cyclase 2D, membrane (retina-specific) | approved; nutraceutical | L-Citrulline | ![]() | ![]() |
DB00435 | guanylate cyclase 2D, membrane (retina-specific) | approved | Nitric Oxide | ![]() | ![]() |
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Cross referenced IDs for GUCY2D |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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