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PDE6H Gene

protein-coding   GIFtS: 55

GC12P014865
phosphodiesterase 6H, cGMP-specific, cone, gamma
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for PDE6H gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
phosphodiesterase 6H, cGMP-specific, cone, gamma1 2
GMP-PDE gamma2 3
RCD32 5
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit
gamma2
EC 3.1.4.173

External Ids:    HGNC: 87901   Entrez Gene: 51492   Ensembl: ENSG000001390537   UniProtKB: Q139563   

Export aliases for PDE6H gene to outside databases

Previous GC identifers: GC12P015270 GC12P015026 GC12P015017 GC12P015125


Summaries
for PDE6H gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PDE6H:
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer
composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in
the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are
associated with retinal cone dystrophy type 3A (RCD3A). (provided by RefSeq)

UniProtKB/Swiss-Prot: CNCG_HUMAN, Q13956
Function: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector
molecules in G-protein-mediated phototransduction in vertebrate rods and cones

summary for PDE6H:
Phosphodiesterases (PDEs) are a family of related phosphohydrolyases that selectively catalyze the
hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or
cGMP). They regulate the cellular levels, localization and duration of action of these second messengers by
controlling the rate of their degradation. There are 11 subtypes of PDEs, named PDE1-11; PDE4, 7 and 8
selectively degrade cAMP, PDE5, 6 and 9 selectively degrade cGMP and PDE1, 2, 3, 10 and 11 degrade both
cyclic nucleotides. PDEs are expressed ubiquitously, with each subtype having a specific tissue
distribution. These enzymes are involved in many signal transduction pathways and their functions include
vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, hormone
secretion, immune cell activation, and they are involved in learning and memory.


Genomic Views
for PDE6H gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDE6H gene promoter:
         NF-kappaB1   NF-kappaB   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   TGIF   MEF-2A   PPAR-gamma2   PPAR-gamma1   NF-YA   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PDE6H

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p12.3   HGNC cytogenetic band: 12p13

PDE6H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDE6H gene location

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P014865:  view genomic region     (about GC identifiers)

Start:
 14,895,337 bp from pter
End:
 14,904,178 bp from pter
Size:
 8,842 bases
Orientation:
 plus strand

1 alternative location:
Chr12+ 15,125,978-15,134,799     
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  

Proteins
for PDE6H gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: CNCG_HUMAN, Q13956 (See protein sequence)
Recommended Name: Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma  
Size: 83 amino acids; 9074 Da
Subunit: Tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma)
Secondary accessions: Q52LY7

Explore the universe of human proteins at neXtProt for PDE6H: NX_Q13956 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_006196.1  

    ENSEMBL proteins: 
    ENSP00000266395 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PDE6H
    OriGene Protein Over-expression Lysate: PDE6H
    GenScript Custom Purified and Recombinant Proteins Services for PDE6H 
    Novus Biologicals Protein for PDE6H
    Novus Biologicals Lysate for PDE6H
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins


    Antibodies for PDE6H: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for PDE6H 
    Browse antibodies at Epitomics

    Assays for PDE6H: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PDE6H 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PDE6H 

    Protein Domains/
    Families
    for PDE6H gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PDE6H for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006952 PDE6_gamma

    Graphical View of Domain Structure for InterPro Entry Q13956

    ProtoNet protein and cluster: Q13956

    1 Blocks protein family: IPB006952 Retinal cGMP phosphodiesterase

    UniProtKB/Swiss-Prot: CNCG_HUMAN, Q13956
    Domain: The C-terminal region is important in conferring inhibition (By similarity)
    Similarity: Belongs to the rod/cone cGMP-PDE gamma subunit family


    Gene Function
    for PDE6H gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: CNCG_HUMAN, Q13956
    Function: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector
    molecules in G-protein-mediated phototransduction in vertebrate rods and cones
    Catalytic activity: Guanosine 3',5'-cyclic phosphate + H(2)O = guanosine 5'-phosphate
    Enzyme Number (IUBMB): EC 3.1.4.17 

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for PDE6H
    Sigma-Aldrich shRNA for PDE6H
    OriGene 29mer shRNA kits in GFP-retroviral vector: PDE6H
    OriGene shRNA RFP: PDE6H
    OriGene basic RS shRNA: PDE6H
    OriGene siRNA: PDE6H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDE6H 
    miRNA:Sigma-Aldrich microRNA Mimics for PDE6H
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDE6H 
    Search SABiosciences for Assays for microRNAs that regulate PDE6H

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PDE6H
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PDE6H
    OriGene untagged cDNA clones in CMV expression vector: PDE6H
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PDE6H 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for PDE6H 

    Genatlas biochemistry entry for PDE6H:
    cGMP specific nucleotide phosphodiesterase,gamma subunit,cone phosphoreceptor

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity IEA--
    GO:0004857 enzyme inhibitor activity TAS8786098
    GO:0016787 hydrolase activity IEA--
    GO:0030553 cGMP binding IEA--
    About this table

    PDE6H for ontologies           About GeneDecksing


    Pathways & Interactions
    for PDE6H gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    PDE6H for pathways           About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  PDE6H
        Purine Metabolism
    Phototransduction Pathway

    1 Kegg Pathway  (Kegg details for PDE6H):
        hsa00230 Purine metabolism

        SABiosciences Custom Pathway-Focused PCR Arrays for PDE6H 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PDE6H
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDE6H

    5/73 Interacting proteins for PDE6H (ENSP000002663953) via UniProtKB, MINT, and/or STRING (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADCY1ENSP000002973233STRING: ENSP00000297323
    ADCY8ENSP000002863553STRING: ENSP00000286355
    CNGA3ENSP000003661403STRING: ENSP00000366140
    ENTPD1ENSP000003602503STRING: ENSP00000360250
    GMPSENSP000002959203STRING: ENSP00000295920
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187 activation of MAPK activity IEA--
    GO:0007601 visual perception IEA--
    GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway IEA--
    GO:0045745 positive regulation of G-protein coupled receptor protein signaling pathway IEA--
    GO:0050896 response to stimulus IEA--
    About this table

    PDE6H for ontologies           About GeneDecksing



    Drugs & Compounds
    for PDE6H gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PDE6H available from Tocris Bioscience
    CompoundAction CAS number
    DipyridamoleAdenosine transport inhibitor[58-32-2]
    ZaprinastPDE5/6/9/11 inhibitor[37762-06-4]
    About this table




    Transcripts
    for PDE6H gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for PDE6H
    Sigma-Aldrich shRNA for PDE6H
    OriGene 29mer shRNA kits in GFP-retroviral vector: PDE6H
    OriGene shRNA RFP: PDE6H
    OriGene basic RS shRNA: PDE6H
    OriGene siRNA: PDE6H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDE6H 
    miRNA: Sigma-Aldrich microRNA Mimics for PDE6H
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDE6H 
    Search SABiosciences for Assays for microRNAs that regulate PDE6H
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PDE6H
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PDE6H
    OriGene untagged cDNA clones in CMV expression vector: PDE6H
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PDE6H 
    Primers: OriGene genome-wide validated SYBR primer pairs: PDE6H
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PDE6H: PPH09462A

    REFSEQ mRNAs for PDE6H gene: 

    NM_006205.2  

    Additional cDNA sequence: 

    BC069774.1 BC069800.1 BC093738.1 BC093740.1 D45399.1 

    2 DOTS entries:

    DT.97838232  DT.100001528 

    24/30 AceView cDNA sequences (see all 30):

    BM686143 BX282052 AA063124 BM673113 C20628 BC069774 AA365818 BM704032 
    AA707922 BX283072 BU729922 BC069800 AA365425 AW966057 BM708682 D45399 
    BM662861 BX954954 BQ640398 NM_006205 BM690682 AA364184 BM707973 BM692205 

    highest scoring ESTs for PDE6H:

    D45399 AA074111 AA364184 AA365425 AA707922 AW960202 AW966057 BC069774 BC069800 BM662861 

    Unigene Cluster for PDE6H:

    Phosphodiesterase 6H, cGMP-specific, cone, gamma
    Hs.54471  [show with all ESTs]
    Unigene Representative Sequence: NM_006205


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266395(uc001rcr.2)

    Expression
    for PDE6H gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PDE6H expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching PDE6H gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    41794_at2, 3 U95-A 1 0.62 1.00 1.00 1.00 D45399 1.00 1.00 1.00 1
    206841_at2, 3 U133-A 1 0.46 1.00 -- -- NM_006205 0.60 1.00 0.82 1
    206841_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    About this table

    PDE6H for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PDE6H gene expression
    PDE6H gene electronic northern expression
    PDE6H gene sage expression
    About these images

    CGAP SAGE TAG: AGCTCGCTCA

    SOURCE GeneReport for Unigene cluster: Hs.54471

    Expression variation in blood from EXPOLDB for PDE6H

    Primers: OriGene genome-wide validated SYBR primer pairs: PDE6H
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PDE6H: PPH09462A
        SABiosciences Custom PCR Arrays for PDE6H 


    Orthologs
    for PDE6H gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for PDE6H gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 PDE6H1   -- phosphodiesterase 6H, cGMP-specific, cone, gamma 90.76(n)
    97.59(a)    		 611031  XM_848650.1  XP_853743.1 
    chimpanzee
    (Pan troglodytes)    		 PDE6H1   -- phosphodiesterase 6H, cGMP-specific, cone, gamma 99.2(n)
    97.59(a)    		 742049  XM_001158553.1  XP_001158553.1 
    cow
    (Bos taurus)    		 PDE6H1   -- phosphodiesterase 6H, cGMP-specific, cone, gamma 88.76(n)
    95.18(a)    		 281978  NM_174422.2  NP_776847.1 
    rat
    (Rattus norvegicus)    		 Pde6h1   -- phosphodiesterase 6H, cGMP-specific, cone, gamma 85.94(n)
    91.57(a)    		 114248  NM_053688.1  NP_446140.1 
    mouse
    (Mus musculus)    		 Pde6h1 , 5 6 (66.72 cM)5
    		 phosphodiesterase 6H, cGMP-specific, cone, gamma1, 5 85.54(n)1
    91.57(a)1    		 786001  NM_023898.41  NP_076387.21 
     AF1891465  AF1909295  (see all 12)
    About this table        Species with no ortholog for PDE6H

    ENSEMBL Gene Tree for PDE6H (if available)

    Paralogs
    for PDE6H gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for PDE6H gene
    PDE6G2  

    PDE6H for paralogs           About GeneDecksing



    Genomic Variants
    for PDE6H gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/121 NCBI SNPs in PDE6H are shown (see all 121)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs22308721,2
    		C,F,15134353(+) TGTCCA/GTGGGA 4 P ref1 syn113Minor allele frequency- G:0.15MN EA NA NS WA 1584
    rs22336141,2
    		C,F,H15125201(+) TTGAGA/GTCTAT 1 -- ng515Minor allele frequency- G:0.01NS EA NA 418
    rs22336151,2
    		C,F,15125336(+) GGTACG/AGAAGA 1 -- ng514Minor allele frequency- A:0.02NS EA 420
    rs22336161,2
    		H15125375(+) CTCAGT/GTAACA 1 -- ng514Minor allele frequency- G:0.00NS EA 420
    rs22336171,2
    		--15125377(+) CAGTTA/GACAAT 1 -- ng510--------
    rs22336181,2
    		H15125410(+) TTCTGT/AGTCAG 1 -- ng514Minor allele frequency- A:0.00NS EA 418
    rs22336191,2
    		H15125411(+) TCTGTG/ATCAGA 1 -- ng514Minor allele frequency- A:0.00NS EA 412
    rs22336201,2
    		H15125413(+) TGTGTC/TAGATA 1 -- ng514Minor allele frequency- T:0.00NS EA 420
    rs22336211,2
    		H15125414(+) GTGTCA/TGATAT 1 -- ng514Minor allele frequency- T:0.00NS EA 412
    rs22336221,2
    		--15125542(+) AGGCAC/GTGTGG 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for PDE6H (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PDE6H: --

    QIAGEN SeqTarget long-range PCR primers for resequencing PDE6H 

    Disorders & Mutations
    for PDE6H gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PDE6H for disorders           About GeneDecksing

    OMIM: 601190   disorders: 610024  

    UniProtKB/Swiss-Prot: CNCG_HUMAN, Q13956

  • Defects in PDE6H are the cause of cone dystrophy retinal type 3A (RCD3A) [MIM:610024]; also known as cone
    • dystrophy with night blindness and supernormal rod responses. RCD3A is a rare form of cone dystrophy associated with
    supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and
    abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious
    areas of atrophy

    Human Gene Mutation Database (HGMD): PDE6H
    Human Genome Epidemiology (HuGE) Navigator: PDE6H (1 document)

    Export disorders and mutations for PDE6H gene to outside databases


    Medical News
    for PDE6H gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for PDE6H gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/11 PubMed articles for PDE6H gene, integrated from 7 sources (see all 11):
    (articles sorted by number of sources associating them with PDE6H)
    1. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). (PubMed id 8786098)1, 2, 3, 7 Shimizu-Matsumoto A.... Okubo K. (1996)
    2. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. (PubMed id 15629837)1, 2, 7 Piri N.... Farber D.B. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. A retinal-specific regulator of G-protein signaling i nteracts with Galpha(o) and accelerates an expressed metabotropic glutamate rec eptor 6 cascade. (PubMed id 15215290)1 Dhingra A....Vardi N. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Three-dimensional structure of non-activated cGMP pho sphodiesterase 6 and comparison of its image with those of activated forms. (PubMed id 12372317)1 Kajimura N....Mayanagi K. (2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
    10. A phosphodiesterase inhibitor specific to a subset of bovine retinal cones. (PubMed id 2162841)1 Hamilton S.E. and Hurley J.B. (1990)

    External Searches for PDE6H gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PDE6H gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5149 HGNC: 8790 AceView: PDE6H Ensembl:ENSG00000139053 euGenes: HUgn5149
    ECgene: PDE6H Kegg: 5149 H-InvDB: PDE6H

    Other Databases showing PDE6H gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PDE6H gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    		   --

    Intellectual Property
    for PDE6H gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for PDE6H gene:
    Search GeneIP for patents involving PDE6H

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for PDE6H gene

    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for PDE6H Browse antibodies at Sigma-Aldrich
     Super-pooled esiRNAs for PDE6H Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PDE6H microRNA Mimics for PDE6H
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDE6H
     SeqTarget long-range PCR primers for resequencing PDE6H
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDE6H
     GenScript Custom Purified and Recombinant Proteins Services for PDE6H GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for PDE6H
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     Search for Antibodies & Assays

     Regulatory tfbs in PDE6H promoter
     Search Chromatin IP Primers for PDE6H
     RT2 qPCR Primer Assay for PDE6H
     Search GNC Networks for PDE6H
     Search for Assays for microRNAs that regulate PDE6H
     SABiosciences Custom PCR Arrays for PDE6H
     Tocris compounds for PDE6H
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Proteins for PDE6H
     Lysates for PDE6H
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     ELISAs and CLIAs for PDE6H
           

    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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