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PDE6C (phosphodiesterase 6C)

Identity

Alias_namesphosphodiesterase 6C, cGMP-specific, cone, alpha prime
Alias_symbol (synonym)PDEA2
ACHM5
COD4
Other alias
HGNC (Hugo) PDE6C
LocusID (NCBI) 5146
Atlas_Id 71796
Location 10q23.33  [Link to chromosome band 10q23]
Location_base_pair Starts at 93612588 and ends at 93665672 bp from pter ( according to hg38-Dec_2013)

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)PDE6C   8787
Cards
Entrez_Gene (NCBI)PDE6C  5146  phosphodiesterase 6C
AliasesACHM5; COD4; PDEA2
GeneCards (Weizmann)PDE6C
Ensembl hg19 (Hinxton)ENSG00000095464 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000095464 [Gene_View]  chr10:93612588-93665672 [Contig_View]  PDE6C [Vega]
ICGC DataPortalENSG00000095464
TCGA cBioPortalPDE6C
AceView (NCBI)PDE6C
Genatlas (Paris)PDE6C
WikiGenes5146
SOURCE (Princeton)PDE6C
Genetics Home Reference (NIH)PDE6C
Genomic and cartography
GoldenPath hg38 (UCSC)PDE6C  -     chr10:93612588-93665672 +  10q23.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDE6C  -     10q23.33   [Description]    (hg19-Feb_2009)
EnsemblPDE6C - 10q23.33 [CytoView hg19]  PDE6C - 10q23.33 [CytoView hg38]
Mapping of homologs : NCBIPDE6C [Mapview hg19]  PDE6C [Mapview hg38]
OMIM600827   613093   
Gene and transcription
Genbank (Entrez)BC111377 BG206143 BG220856 U31973
RefSeq transcript (Entrez)NM_006204
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDE6C
Cluster EST : UnigeneHs.658121 [ NCBI ]
CGAP (NCI)Hs.658121
Alternative Splicing GalleryENSG00000095464
Gene ExpressionPDE6C [ NCBI-GEO ]   PDE6C [ EBI - ARRAY_EXPRESS ]   PDE6C [ SEEK ]   PDE6C [ MEM ]
Gene Expression Viewer (FireBrowse)PDE6C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5146
GTEX Portal (Tissue expression)PDE6C
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51160   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51160  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51160
Splice isoforms : SwissVarP51160
Catalytic activity : Enzyme3.1.4.35 [ Enzyme-Expasy ]   3.1.4.353.1.4.35 [ IntEnz-EBI ]   3.1.4.35 [ BRENDA ]   3.1.4.35 [ KEGG ]   
PhosPhoSitePlusP51160
Domaine pattern : Prosite (Expaxy)PDEASE_I (PS00126)   
Domains : Interpro (EBI)GAF    GAF_dom-like    HD/PDEase_dom    PDEase    PDEase_catalytic_dom    PDEase_CS   
Domain families : Pfam (Sanger)GAF (PF01590)    PDEase_I (PF00233)   
Domain families : Pfam (NCBI)pfam01590    pfam00233   
Domain families : Smart (EMBL)GAF (SM00065)  HDc (SM00471)  
Conserved Domain (NCBI)PDE6C
DMDM Disease mutations5146
Blocks (Seattle)PDE6C
PDB (SRS)3JWQ    3JWR    5E8F   
PDB (PDBSum)3JWQ    3JWR    5E8F   
PDB (IMB)3JWQ    3JWR    5E8F   
PDB (RSDB)3JWQ    3JWR    5E8F   
Structural Biology KnowledgeBase3JWQ    3JWR    5E8F   
SCOP (Structural Classification of Proteins)3JWQ    3JWR    5E8F   
CATH (Classification of proteins structures)3JWQ    3JWR    5E8F   
SuperfamilyP51160
Human Protein AtlasENSG00000095464
Peptide AtlasP51160
HPRD02898
IPIIPI00747459   
Protein Interaction databases
DIP (DOE-UCLA)P51160
IntAct (EBI)P51160
FunCoupENSG00000095464
BioGRIDPDE6C
STRING (EMBL)PDE6C
ZODIACPDE6C
Ontologies - Pathways
QuickGOP51160
Ontology : AmiGOplasma membrane  visual perception  phototransduction, visible light  cGMP binding  retinal cone cell development  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  
Ontology : EGO-EBIplasma membrane  visual perception  phototransduction, visible light  cGMP binding  retinal cone cell development  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  
Pathways : KEGGPurine metabolism   
NDEx NetworkPDE6C
Atlas of Cancer Signalling NetworkPDE6C
Wikipedia pathwaysPDE6C
Orthology - Evolution
OrthoDB5146
GeneTree (enSembl)ENSG00000095464
Phylogenetic Trees/Animal Genes : TreeFamPDE6C
HOVERGENP51160
HOGENOMP51160
Homologs : HomoloGenePDE6C
Homology/Alignments : Family Browser (UCSC)PDE6C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDE6C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE6C
dbVarPDE6C
ClinVarPDE6C
1000_GenomesPDE6C 
Exome Variant ServerPDE6C
ExAC (Exome Aggregation Consortium)PDE6C (select the gene name)
Genetic variants : HAPMAP5146
Genomic Variants (DGV)PDE6C [DGVbeta]
DECIPHERPDE6C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDE6C 
Mutations
ICGC Data PortalPDE6C 
TCGA Data PortalPDE6C 
Broad Tumor PortalPDE6C
OASIS PortalPDE6C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDE6C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDE6C
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
BioMutasearch PDE6C
DgiDB (Drug Gene Interaction Database)PDE6C
DoCM (Curated mutations)PDE6C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDE6C (select a term)
intoGenPDE6C
Cancer3DPDE6C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600827    613093   
Orphanet1842    10639   
MedgenPDE6C
Genetic Testing Registry PDE6C
NextProtP51160 [Medical]
TSGene5146
GENETestsPDE6C
Target ValidationPDE6C
Huge Navigator PDE6C [HugePedia]
snp3D : Map Gene to Disease5146
BioCentury BCIQPDE6C
ClinGenPDE6C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5146
Chemical/Pharm GKB GenePA33135
Clinical trialPDE6C
Miscellaneous
canSAR (ICR)PDE6C (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDE6C
EVEXPDE6C
GoPubMedPDE6C
iHOPPDE6C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:15 CEST 2017

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