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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
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 (Hinxton)ENSG00000132518 [Gene_View]  chr17:7905988-7923658 [Contig_View]  GUCY2D [Vega]
ICGC DataPortalENSG00000132518
cBioPortalGUCY2D
AceView (NCBI)GUCY2D
Genatlas (Paris)GUCY2D
WikiGenes3000
SOURCE (Princeton)NM_000180
Genomic and cartography
GoldenPath (UCSC)GUCY2D  -  17p13.1   chr17:7905988-7923658 +  17p13.1   [Description]    (hg19-Feb_2009)
EnsemblGUCY2D - 17p13.1 [CytoView]
Mapping of homologs : NCBIGUCY2D [Mapview]
OMIM204000   600179   601777   
Gene and transcription
Genbank (Entrez)BC148421 BM931704 M92432
RefSeq transcript (Entrez)NM_000180
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_009092 NT_010718 NW_001838403 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 ]
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 [organisation]   A/G_cyclase_CS [organisation]   ANF_lig-bd_rcpt [organisation]   Haem_no_assoc-bd [organisation]   Kinase-like_dom [organisation]   Peripla_BP_I [organisation]   Prot_kinase_dom [organisation]   Ser-Thr/Tyr_kinase_cat_dom [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ02846
HPRD02550
IPIIPI00027242   
Protein Interaction databases
DIP (DOE-UCLA)Q02846
IntAct (EBI)Q02846
FunCoupENSG00000132518
BioGRIDGUCY2D
InParanoidQ02846
Interologous Interaction database Q02846
IntegromeDBGUCY2D
STRING (EMBL)GUCY2D
Ontologies - Pathways
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
Wikipedia pathwaysGUCY2D
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GUCY2D
snp3D : Map Gene to Disease3000
SNP (GeneSNP Utah)GUCY2D
SNP : HGBaseGUCY2D
Genetic variants : HAPMAPGUCY2D
Exome VariantGUCY2D
1000_GenomesGUCY2D 
ICGC programENSG00000132518 
Somatic Mutations in Cancer : COSMICGUCY2D 
CONAN: Copy Number AnalysisGUCY2D 
Mutations and Diseases : HGMDGUCY2D
Mutations and Diseases : intOGenGUCY2D
Genomic VariantsGUCY2D  GUCY2D [DGVbeta]
dbVarGUCY2D
ClinVarGUCY2D
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM204000    600179    601777   
MedgenGUCY2D
GENETestsGUCY2D
Disease Genetic AssociationGUCY2D
Huge Navigator GUCY2D [HugePedia]  GUCY2D [HugeCancerGEM]
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
PubMed58 Pubmed reference(s) in Entrez
CoreMineGUCY2D
iHOPGUCY2D
OncoSearchGUCY2D
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:54:12 CEST 2014

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