Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GUCY2D (guanylate cyclase 2D, membrane (retina-specific))

Identity

Other namesCORD5
CORD6
CYGD
GUC1A4
GUC2D
LCA
LCA1
RCD2
RETGC-1
ROS-GC1
ROSGC
retGC
HGNC (Hugo) GUCY2D
LocusID (NCBI) 3000
Atlas_Id 43304
Location 17p13.1
Location_base_pair Starts at 7905988 and ends at 7923658 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GUCY2D   4689
Cards
Entrez_Gene (NCBI)GUCY2D  3000  guanylate cyclase 2D, membrane (retina-specific)
GeneCards (Weizmann)GUCY2D
Ensembl hg19 (Hinxton)ENSG00000132518 [Gene_View]  chr17:7905988-7923658 [Contig_View]  GUCY2D [Vega]
Ensembl hg38 (Hinxton)ENSG00000132518 [Gene_View]  chr17:7905988-7923658 [Contig_View]  GUCY2D [Vega]
ICGC DataPortalENSG00000132518
TCGA cBioPortalGUCY2D
AceView (NCBI)GUCY2D
Genatlas (Paris)GUCY2D
WikiGenes3000
SOURCE (Princeton)GUCY2D
Genomic and cartography
GoldenPath hg19 (UCSC)GUCY2D  -     chr17:7905988-7923658 +  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GUCY2D  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblGUCY2D - 17p13.1 [CytoView hg19]  GUCY2D - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIGUCY2D [Mapview hg19]  GUCY2D [Mapview hg38]
OMIM204000   600179   601777   
Gene and transcription
Genbank (Entrez)BC148421 BM931704 M92432
RefSeq transcript (Entrez)NM_000180
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009092 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)GUCY2D
Cluster EST : UnigeneHs.592109 [ NCBI ]
CGAP (NCI)Hs.592109
Alternative Splicing : Fast-db (Paris)GSHG0012212
Alternative Splicing GalleryENSG00000132518
Gene ExpressionGUCY2D [ NCBI-GEO ]     GUCY2D [ SEEK ]   GUCY2D [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02846 (Uniprot)
NextProtQ02846  [Medical]
With graphics : InterProQ02846
Splice isoforms : SwissVarQ02846 (Swissvar)
Catalytic activity : Enzyme4.6.1.2 [ Enzyme-Expasy ]   4.6.1.24.6.1.2 [ IntEnz-EBI ]   4.6.1.2 [ BRENDA ]   4.6.1.2 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GUANYLATE_CYCLASE_1 (PS00452)    GUANYLATE_CYCLASE_2 (PS50125)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)A/G_cyclase    A/G_cyclase_CS    ANF_lig-bd_rcpt    Haem_no_assoc-bd    Kinase-like_dom    Nucleotide_cyclase    Peripla_BP_I    Prot_kinase_dom    Ser-Thr/Tyr_kinase_cat_dom   
Related proteins : CluSTrQ02846
Domain families : Pfam (Sanger)ANF_receptor (PF01094)    Guanylate_cyc (PF00211)    HNOBA (PF07701)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam01094    pfam00211    pfam07701    pfam07714   
Domain families : Smart (EMBL)CYCc (SM00044)  
DMDM Disease mutations3000
Blocks (Seattle)Q02846
PDB (SRS)1AWL   
PDB (PDBSum)1AWL   
PDB (IMB)1AWL   
PDB (RSDB)1AWL   
Human Protein AtlasENSG00000132518
Peptide AtlasQ02846
HPRD02550
IPIIPI00027242   
Protein Interaction databases
DIP (DOE-UCLA)Q02846
IntAct (EBI)Q02846
FunCoupENSG00000132518
BioGRIDGUCY2D
IntegromeDBGUCY2D
STRING (EMBL)GUCY2D
Ontologies - Pathways
QuickGOQ02846
Ontology : AmiGOguanylate cyclase activity  protein kinase activity  receptor activity  ATP binding  GTP binding  nuclear outer membrane  integral component of plasma membrane  cGMP biosynthetic process  protein phosphorylation  receptor guanylyl cyclase signaling pathway  visual perception  phototransduction, visible light  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  intracellular signal transduction  photoreceptor disc membrane  
Ontology : EGO-EBIguanylate cyclase activity  protein kinase activity  receptor activity  ATP binding  GTP binding  nuclear outer membrane  integral component of plasma membrane  cGMP biosynthetic process  protein phosphorylation  receptor guanylyl cyclase signaling pathway  visual perception  phototransduction, visible light  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  intracellular signal transduction  photoreceptor disc membrane  
Pathways : KEGGPurine metabolism    Olfactory transduction    Phototransduction   
Protein Interaction DatabaseGUCY2D
DoCM (Curated mutations)GUCY2D
Wikipedia pathwaysGUCY2D
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerGUCY2D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GUCY2D
dbVarGUCY2D
ClinVarGUCY2D
1000_GenomesGUCY2D 
Exome Variant ServerGUCY2D
SNP (GeneSNP Utah)GUCY2D
SNP : HGBaseGUCY2D
Genetic variants : HAPMAPGUCY2D
Genomic Variants (DGV)GUCY2D [DGVbeta]
Mutations
ICGC Data PortalGUCY2D 
TCGA Data PortalGUCY2D 
Tumor PortalGUCY2D
Somatic Mutations in Cancer : COSMICGUCY2D 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:7905988-7923658
CONAN: Copy Number AnalysisGUCY2D 
Mutations and Diseases : HGMDGUCY2D
OMIM204000    600179    601777   
MedgenGUCY2D
NextProtQ02846 [Medical]
GENETestsGUCY2D
Disease Genetic AssociationGUCY2D
Huge Navigator GUCY2D [HugePedia]  GUCY2D [HugeCancerGEM]
snp3D : Map Gene to Disease3000
DGIdb (Drug Gene Interaction db)GUCY2D
General knowledge
Homologs : HomoloGeneGUCY2D
Homology/Alignments : Family Browser (UCSC)GUCY2D
Phylogenetic Trees/Animal Genes : TreeFamGUCY2D
Chemical/Protein Interactions : CTD3000
Chemical/Pharm GKB GenePA187
Clinical trialGUCY2D
Cancer Resource (Charite)ENSG00000132518
Other databases
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
CoreMineGUCY2D
GoPubMedGUCY2D
iHOPGUCY2D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:31:24 CEST 2015

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