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Aliases for PDE6H Gene

Aliases for PDE6H Gene

  • Phosphodiesterase 6H 2 3 5
  • Phosphodiesterase 6H, CGMP-Specific, Cone, Gamma 2 3
  • GMP-PDE Gamma 3 4
  • Retinal Cone Rhodopsin-Sensitive CGMP 3,5-Cyclic Phosphodiesterase Subunit Gamma 3
  • EC 56
  • EC 4
  • ACHM6 3
  • RCD3 3

External Ids for PDE6H Gene

Previous GeneCards Identifiers for PDE6H Gene

  • GC12P014865
  • GC12P015270
  • GC12P015026
  • GC12P015017
  • GC12P015125
  • GC12P014975
  • GC12P014976
  • GC12P014977
  • GC12P014978
  • GC12P014979
  • GC12P014980
  • GC12P014981

Summaries for PDE6H Gene

Entrez Gene Summary for PDE6H Gene

  • 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, Mar 2010]

GeneCards Summary for PDE6H Gene

PDE6H (Phosphodiesterase 6H) is a Protein Coding gene. Diseases associated with PDE6H include Retinal Cone Dystrophy 3A and Achromatopsia. Among its related pathways are Pyrimidine metabolism (KEGG) and Phototransduction. Gene Ontology (GO) annotations related to this gene include enzyme inhibitor activity and cGMP binding. An important paralog of this gene is PDE6G.

UniProtKB/Swiss-Prot for PDE6H Gene

  • 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.

Tocris Summary for PDE6H Gene

  • Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.

Additional gene information for PDE6H Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE6H Gene

Genomics for PDE6H Gene

GeneHancer (GH) Regulatory Elements for PDE6H Gene

Promoters and enhancers for PDE6H Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I014972 Promoter 0.5 EPDnew 550.8 +0.0 1 0.1 GC12P014973 GC12P014974 PDE6H LOC105369670
GH12I014945 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.1 -17.7 -17708 19.1 HDGF PKNOX1 ATF1 FOXA2 SMAD1 YBX1 IRF4 YY1 ZNF766 GATA2 ARHGDIB ERP27 PDE6H WBP11 ART4 H2AFJ HIST4H4 SMCO3 C12orf60 ENSG00000256339
GH12I014883 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 15.6 -88.1 -88051 3.2 PKNOX1 SMAD1 NFIB EBF1 CTBP1 GATA3 POLR2A ATF7 RCOR1 IKZF2 MGP ENSG00000256339 ERP27 PDE6H ART4 SMCO3 ARHGDIB H2AFJ HIST4H4 WBP11
GH12I014937 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 10.9 -34.5 -34543 2.7 CTCF POLR2A NFATC1 ZNF143 BCL6 SPI1 ERP27 ARHGDIB PDE6H HIST4H4 ENSG00000256339 MGP C12orf60 GC12M014903
GH12I014927 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.2 -44.0 -44048 2.4 SMARCE1 STAT1 ZSCAN4 DPF2 ELF1 SP1 ZNF217 CTBP1 GATA3 JUND ERP27 MGP C12orf60 ARHGDIB PDE6H ENSG00000256339 GC12M014903
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDE6H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDE6H gene promoter:

Genomic Locations for PDE6H Gene

Genomic Locations for PDE6H Gene
8,844 bases
Plus strand

Genomic View for PDE6H Gene

Genes around PDE6H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE6H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE6H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE6H Gene

Proteins for PDE6H Gene

  • Protein details for PDE6H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Retinal cone rhodopsin-sensitive cGMP 3,5-cyclic phosphodiesterase subunit gamma
    Protein Accession:
    Secondary Accessions:
    • Q52LY7

    Protein attributes for PDE6H Gene

    83 amino acids
    Molecular mass:
    9074 Da
    Quaternary structure:
    • Tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma).

neXtProt entry for PDE6H Gene

Selected DME Specific Peptides for PDE6H Gene


Post-translational modifications for PDE6H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDE6H Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PDE6H Gene

Gene Families for PDE6H Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PDE6H Gene

Suggested Antigen Peptide Sequences for PDE6H Gene

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal region is important in conferring inhibition.
  • Belongs to the rod/cone cGMP-PDE gamma subunit family.
  • The C-terminal region is important in conferring inhibition.
  • Belongs to the rod/cone cGMP-PDE gamma subunit family.
genes like me logo Genes that share domains with PDE6H: view

Function for PDE6H Gene

Molecular function for PDE6H Gene

GENATLAS Biochemistry:
cGMP specific nucleotide phosphodiesterase,gamma subunit,cone phosphoreceptor
UniProtKB/Swiss-Prot CatalyticActivity:
Guanosine 3,5-cyclic phosphate + H(2)O = guanosine 5-phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PDE6H Gene

Gene Ontology (GO) - Molecular Function for PDE6H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004114 3,5-cyclic-nucleotide phosphodiesterase activity IEA --
GO:0004857 enzyme inhibitor activity TAS 8786098
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0030553 cGMP binding IEA --
genes like me logo Genes that share ontologies with PDE6H: view
genes like me logo Genes that share phenotypes with PDE6H: view

Human Phenotype Ontology for PDE6H Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDE6H Gene

MGI Knock Outs for PDE6H:

Animal Model Products

miRNA for PDE6H Gene

miRTarBase miRNAs that target PDE6H

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PDE6H Gene

Localization for PDE6H Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE6H gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PDE6H Gene

Pathways & Interactions for PDE6H Gene

genes like me logo Genes that share pathways with PDE6H: view

Pathways by source for PDE6H Gene

1 BioSystems pathway for PDE6H Gene
1 KEGG pathway for PDE6H Gene

Gene Ontology (GO) - Biological Process for PDE6H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0007601 visual perception TAS,IEA --
GO:0043086 negative regulation of catalytic activity 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 --
genes like me logo Genes that share ontologies with PDE6H: view

No data available for SIGNOR curated interactions for PDE6H Gene

Drugs & Compounds for PDE6H Gene

(11) Drugs for PDE6H Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vardenafil Approved Pharma Target, allosteric modulator PDE5 inhibitor 0
Sildenafil Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor PDE5 inhibitor, selective 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
cyclic amp Experimental Pharma 0

(1) Additional Compounds for PDE6H Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Antagonist 28822-58-4

(5) Tocris Compounds for PDE6H Gene

Compound Action Cas Number
Eggmanone Potent and selective PDE4 inhibitor; suppresses hedgehog signaling 505068-32-6
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
IBMX PDE inhibitor (non-selective) 28822-58-4
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5
genes like me logo Genes that share compounds with PDE6H: view

Transcripts for PDE6H Gene

mRNA/cDNA for PDE6H Gene

Unigene Clusters for PDE6H Gene

Phosphodiesterase 6H, cGMP-specific, cone, gamma:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE6H Gene

No ASD Table

Relevant External Links for PDE6H Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDE6H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDE6H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE6H Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.7), Brain - Cortex (x6.8), Whole Blood (x6.0), and Brain - Anterior cingulate cortex (BA24) (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of PDE6H Gene:


SOURCE GeneReport for Unigene cluster for PDE6H Gene:


Evidence on tissue expression from TISSUES for PDE6H Gene

  • Eye(4.5)
  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE6H Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PDE6H: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PDE6H Gene

Orthologs for PDE6H Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDE6H Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDE6H 33 34
  • 99.2 (n)
(Canis familiaris)
Mammalia PDE6H 33 34
  • 90.76 (n)
(Monodelphis domestica)
Mammalia PDE6H 34
  • 90 (a)
(Bos Taurus)
Mammalia PDE6H 33 34
  • 88.76 (n)
(Rattus norvegicus)
Mammalia Pde6h 33
  • 85.94 (n)
(Mus musculus)
Mammalia Pde6h 33 16 34
  • 85.54 (n)
(Gallus gallus)
Aves PDE6H 33 34
  • 80.32 (n)
(Anolis carolinensis)
Reptilia PDE6H 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6h 33
  • 76.89 (n)
(Danio rerio)
Actinopterygii zgc:112320 34
  • 70 (a)
zgc:73359 33
  • 67.08 (n)
Species where no ortholog for PDE6H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDE6H Gene

Gene Tree for PDE6H (if available)
Gene Tree for PDE6H (if available)

Paralogs for PDE6H Gene

Paralogs for PDE6H Gene

(1) SIMAP similar genes for PDE6H Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PDE6H: view

Variants for PDE6H Gene

Sequence variations from dbSNP and Humsavar for PDE6H Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs11056264 benign, Cone dystrophy 3 14,973,069(+) G/C/T 5_prime_UTR_variant, genic_upstream_transcript_variant
rs114575851 likely-benign, Cone dystrophy 3 14,977,984(+) G/C 5_prime_UTR_variant
rs144778897 uncertain-significance, Cone dystrophy 3 14,981,547(+) C/T 3_prime_UTR_variant
rs200311463 pathogenic, Achromatopsia 6, Retinal cone dystrophy 3A 14,978,047(+) C/G coding_sequence_variant, stop_gained
rs2230872 benign, Cone dystrophy 3 14,981,419(+) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for PDE6H Gene

Variant ID Type Subtype PubMed ID
dgv1394n100 CNV gain 25217958
esv3628659 CNV gain 21293372
nsv951333 CNV duplication 24416366

Variation tolerance for PDE6H Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDE6H Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE6H Gene

Disorders for PDE6H Gene

MalaCards: The human disease database

(4) MalaCards diseases for PDE6H Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal cone dystrophy 3a
  • rcd3a
  • achm
cone dystrophy
  • cone dystrophy 3
color blindness
  • blindness color
- elite association - COSMIC cancer census association via MalaCards
Search PDE6H in MalaCards View complete list of genes associated with diseases


  • Cone dystrophy, retinal 3A (RCD3A) [MIM:610024]: 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. {ECO:0000269 PubMed:15629837}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PDE6H

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDE6H: view

No data available for Genatlas for PDE6H Gene

Publications for PDE6H Gene

  1. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). (PMID: 8786098) Shimizu-Matsumoto A … Okubo K (Genomics 1996) 2 3 4 22 58
  2. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. (PMID: 15629837) Piri N … Farber DB (Ophthalmology 2005) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for PDE6H Gene

Sources for PDE6H Gene

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