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 d... See more...

Aliases for PDE6H Gene

Aliases for PDE6H Gene

  • Phosphodiesterase 6H 2 3 5
  • Retinal Cone Rhodopsin-Sensitive CGMP 3',5'-Cyclic Phosphodiesterase Subunit Gamma 2 3 4
  • Phosphodiesterase 6H, CGMP-Specific, Cone, Gamma 2 3
  • GMP-PDE Gamma 3 4
  • EC 3.1.4.17 52
  • EC 3.1.4.35 4
  • ACHM6 3
  • RCD3 3

External Ids for PDE6H Gene

Previous GeneCards Identifiers for PDE6H Gene

  • GC12P014865
  • GC12P015270
  • GC12P015026
  • GC12P015017
  • GC12P015125
  • GC12P014975
  • GC12P014976
  • GC12P014985
  • GC12P014986
  • GC12P014984
  • GC12P014977
  • GC12P014978
  • GC12P014979
  • GC12P014980
  • GC12P014981
  • GC12P014982

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 Metabolism and Metabolism of nucleotides. 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 Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J014972 Promoter 0.3 EPDnew 500.7 +0.0 1 0.1 PDE6H LOC105369670
GH12J014945 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.1 -17.7 -17708 19.1 ZBTB40 EP300 SIN3A TCF12 SP1 GTF2E2 JUND FOS ZBTB11 RFX1 ARHGDIB ERP27 PDE6H WBP11 ART4 H2AJ H4-16 SMCO3 C12orf60 ENSG00000256339
GH12J014883 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 15.6 -88.1 -88051 3.2 ZNF217 REST CTBP1 BCL11A CBFB MBD2 NBN GATA3 JUND IKZF1 MGP lnc-ERP27-1 ENSG00000256339 ERP27 PDE6H ART4 SMCO3 ARHGDIB H2AJ H4-16
GH12J014937 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 11 -34.0 -33952 3.9 EP300 CTCF SMC3 BCL6 RAD21 NFATC1 SPI1 POLR2A ZNF143 ERP27 ARHGDIB PDE6H H4-16 ENSG00000256339 MGP C12orf60
GH12J014927 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 10.2 -44.0 -44048 2.4 ZNF217 CTBP1 NR3C1 JUND ELF1 GATA3 DPF2 RCOR1 STAT1 SMARCE1 ERP27 MGP C12orf60 ARHGDIB PDE6H ENSG00000256339 piR-61288-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE6H on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDE6H

Top Transcription factor binding sites by QIAGEN in the PDE6H gene promoter:
  • AML1a
  • ARP-1
  • HFH-1
  • IRF-1
  • Nkx6-1
  • Pbx1a
  • S8
  • STAT5A

Genomic Locations for PDE6H Gene

Genomic Locations for PDE6H Gene
chr12:14,973,022-14,981,865
(GRCh38/hg38)
Size:
8,844 bases
Orientation:
Plus strand
chr12:15,125,956-15,134,799
(GRCh37/hg19)
Size:
8,844 bases
Orientation:
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:
    Q13956-CNCG_HUMAN
    Recommended name:
    Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
    Protein Accession:
    Q13956
    Secondary Accessions:
    • Q52LY7

    Protein attributes for PDE6H Gene

    Size:
    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

Q13956:
  • TPRKGPPKFKQRQTRQFKSKPPKKGV
  • HLELHELAQ
  • GFGDDIPGMEGLGTDITVICPWEAF

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

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

Protein Domains for PDE6H Gene

Blocks:
  • Retinal cGMP phosphodiesterase, gamma subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDE6H Gene

GenScript: Design optimal peptide antigens:
  • Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (CNCG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13956

UniProtKB/Swiss-Prot:

CNCG_HUMAN :
  • The C-terminal region is important in conferring inhibition.
  • Belongs to the rod/cone cGMP-PDE gamma subunit family.
Domain:
  • The C-terminal region is important in conferring inhibition.
Family:
  • 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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic GMP + H2O = GMP + H(+); Xref=Rhea:RHEA:16957, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57746, ChEBI:CHEBI:58115; EC=3.1.4.35;.
GENATLAS Biochemistry:
cGMP specific nucleotide phosphodiesterase,gamma subunit,cone phosphoreceptor

Enzyme Numbers (IUBMB) for PDE6H Gene

Phenotypes From GWAS Catalog 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 Transcription Factor Targets and HOMER Transcription for PDE6H Gene

Localization for PDE6H Gene

Subcellular locations from

COMPARTMENTS
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
plasma membrane 3
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDE6H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042622 photoreceptor outer segment membrane IBA 21873635
genes like me logo Genes that share ontologies with PDE6H: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PDE6H Gene

Pathways & Interactions for PDE6H Gene

PathCards logo

SuperPathways 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
2 KEGG pathways 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 IBA 21873635
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,IBA 21873635
GO:0045745 positive regulation of G protein-coupled receptor signaling pathway IBA,IEA 21873635
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

(7) 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Eggmanone
505068-32-6
Etazolate hydrochloride
35838-58-5
IBMX
Antagonist 28822-58-4
MY-5445
78351-75-4
Ro 20-1724
29925-17-5

(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

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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
PDE6H

Expression for PDE6H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDE6H

SOURCE GeneReport for Unigene cluster for PDE6H Gene:

Hs.54471

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
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PDE6H 31 30
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDE6H 31 30
  • 90.76 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDE6H 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDE6H 31 30
  • 88.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde6h 30
  • 85.94 (n)
mouse
(Mus musculus)
Mammalia Pde6h 17 31 30
  • 85.54 (n)
chicken
(Gallus gallus)
Aves PDE6H 31 30
  • 80.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE6H 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6h 30
  • 76.89 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:112320 31
  • 70 (a)
ManyToMany
zgc:73359 30
  • 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

ENSEMBL:
Gene Tree for PDE6H (if available)
TreeFam:
Gene Tree for PDE6H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDE6H: view image

Paralogs for PDE6H Gene

Paralogs for PDE6H Gene

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

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

Variants for PDE6H Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDE6H Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
763984 Likely Benign: not provided 14,978,084(+) C/G SYNONYMOUS_VARIANT
rs11056264 Benign: Cone dystrophy 3 14,973,069(+) G/C FIVE_PRIME_UTR_VARIANT
rs114575851 Likely Benign: Cone dystrophy 3 14,977,984(+) G/C FIVE_PRIME_UTR_VARIANT
rs1421690648 Uncertain Significance: not provided 14,981,471(+) A/C MISSENSE_VARIANT
rs144778897 Uncertain Significance: Cone dystrophy 3 14,981,547(+) C/T THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PDE6H Gene

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)
PDE6H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE6H

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

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

Disorder Aliases PubMed IDs
retinal cone dystrophy 3a
  • rcd3a
achromatopsia
  • achromatopsia 2
cone dystrophy
  • cone dystrophy 3
epidemic pleurodynia
  • bamble disease
achromatopsia 4
  • achm4
- elite association - COSMIC cancer census association via MalaCards
Search PDE6H in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNCG_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 23 54
  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 41 54
  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 54
  5. SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling. (PMID: 27591049) Elliott PR … Gyrd-Hansen M (Molecular cell 2016) 3 54

Products for PDE6H Gene

Sources for PDE6H Gene