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Aliases for PDE6A Gene

Aliases for PDE6A Gene

  • Phosphodiesterase 6A, CGMP-Specific, Rod, Alpha 2 3
  • PDEA 3 4 6
  • GMP-PDE Alpha 3 4
  • EC 3.1.4.35 4 64
  • PDE V-B1 3 4
  • RP43 3 6
  • Rod CGMP-Specific 3,5-Cyclic Phosphodiesterase Subunit Alpha 3
  • Rod Photoreceptor CGMP Phosphodiesterase Alpha Subunit 3
  • CGMP Phosphodiesterase Alpha Subunit 3
  • EC 3.1.4 64
  • CGPR-A 3

External Ids for PDE6A Gene

Previous Symbols for PDE6A Gene

  • PDEA

Summaries for PDE6A Gene

Entrez Gene Summary for PDE6A Gene

  • This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDE6A Gene

PDE6A (Phosphodiesterase 6A, CGMP-Specific, Rod, Alpha) is a Protein Coding gene. Diseases associated with PDE6A include retinitis pigmentosa 43 and pde6a-related retinitis pigmentosa. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include 3,5-cyclic-GMP phosphodiesterase activity. An important paralog of this gene is PDE2A.

UniProtKB/Swiss-Prot for PDE6A Gene

  • This protein participates in processes of transmission and amplification of the visual signal

Tocris Summary for PDE6A Gene

  • 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.

Gene Wiki entry for PDE6A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE6A Gene

Genomics for PDE6A Gene

Genomic Location for PDE6A Gene

Start:
149,857,955 bp from pter
End:
149,944,793 bp from pter
Size:
86,839 bases
Orientation:
Minus strand

Genomic View for PDE6A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDE6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE6A Gene

Regulatory Elements for PDE6A Gene

Proteins for PDE6A Gene

  • Protein details for PDE6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16499-PDE6A_HUMAN
    Recommended name:
    Rod cGMP-specific 3,5-cyclic phosphodiesterase subunit alpha
    Protein Accession:
    P16499
    Secondary Accessions:
    • Q0P638

    Protein attributes for PDE6A Gene

    Size:
    860 amino acids
    Molecular mass:
    99547 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240; Note=Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.;
    Quaternary structure:
    • Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain

neXtProt entry for PDE6A Gene

Proteomics data for PDE6A Gene at MOPED

Post-translational modifications for PDE6A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDE6A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PDE6A Gene

Gene Families for PDE6A Gene

HGNC:
  • PDE :Phosphodiesterases
IUPHAR :

Protein Domains for PDE6A Gene

UniProtKB/Swiss-Prot:

PDE6A_HUMAN
Domain:
  • Contains 2 GAF domains.:
    • P16499
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family.:
    • P16499
genes like me logo Genes that share domains with PDE6A: view

Function for PDE6A Gene

Molecular function for PDE6A Gene

GENATLAS Biochemistry: cGMP specific nucleotide phosphodiesterase,class VI,alpha subunit,rod photoreceptor
UniProtKB/Swiss-Prot CatalyticActivity: Guanosine 3,5-cyclic phosphate + H(2)O = guanosine 5-phosphate
UniProtKB/Swiss-Prot Function: This protein participates in processes of transmission and amplification of the visual signal

Enzyme Numbers (IUBMB) for PDE6A Gene

Gene Ontology (GO) - Molecular Function for PDE6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004114 3,5-cyclic-nucleotide phosphodiesterase activity --
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
GO:0047555 3,5-cyclic-GMP phosphodiesterase activity IMP 19946729
genes like me logo Genes that share ontologies with PDE6A: view

Phenotypes for PDE6A Gene

genes like me logo Genes that share phenotypes with PDE6A: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PDE6A Gene

Localization for PDE6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE6A Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDE6A Gene COMPARTMENTS Subcellular localization image for PDE6A gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDE6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with PDE6A: view

Pathways for PDE6A Gene

genes like me logo Genes that share pathways with PDE6A: view

Pathways by source for PDE6A Gene

1 Qiagen pathway for PDE6A Gene
1 BioSystems pathway for PDE6A Gene

Interacting Proteins for PDE6A Gene

Gene Ontology (GO) - Biological Process for PDE6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with PDE6A: view

Compounds for PDE6A Gene

(5) Tocris Compounds for PDE6A Gene

Compound Action Cas Number
(R)-(-)-Rolipram PDE4 inhibitor. More active enantiomer of rolipram (Cat. No. 0905) [85416-75-7]
Cilostamide PDE3 inhibitor [68550-75-4]
IBMX PDE inhibitor (non-selective) [28822-58-4]
Rolipram PDE4 inhibitor [61413-54-5]
Sildenafil citrate Orally active, potent PDE5 inhibitor [171599-83-0]

(3) HMDB Compounds for PDE6A Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Water
  • Dihydrogen oxide
7732-18-5

(1) Novoseek inferred chemical compound relationships for PDE6A Gene

Compound -log(P) Hits PubMed IDs
cgmp 46.4 3
genes like me logo Genes that share compounds with PDE6A: view

Transcripts for PDE6A Gene

Unigene Clusters for PDE6A Gene

Phosphodiesterase 6A, cGMP-specific, rod, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDE6A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22
SP1: - -
SP2:
SP3:

Relevant External Links for PDE6A Gene

GeneLoc Exon Structure for
PDE6A
ECgene alternative splicing isoforms for
PDE6A

Expression for PDE6A Gene

mRNA expression in normal human tissues for PDE6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE6A Gene

This gene is overexpressed in Colon - Transverse (8.8), Pituitary (8.6), Testis (7.8), and Esophagus - Mucosa (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PDE6A Gene

SOURCE GeneReport for Unigene cluster for PDE6A Gene Hs.567314

genes like me logo Genes that share expressions with PDE6A: view

Orthologs for PDE6A Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDE6A 36
  • 99.5 (n)
  • 99.65 (a)
PDE6A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDE6A 36
  • 90.38 (n)
  • 93.36 (a)
PDE6A 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE6A 36
  • 91.28 (n)
  • 95.12 (a)
PDE6A 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde6a 36
  • 87.83 (n)
  • 95 (a)
Pde6a 16
Pde6a 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDE6A 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE6A 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde6a 36
  • 88.33 (n)
  • 94.77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6a 36
  • 71.83 (n)
  • 78.11 (a)
zebrafish
(Danio rerio)
Actinopterygii pde6a 36
  • 72.24 (n)
  • 77.54 (a)
pde6a 37
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pde6 37
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pde-3 37
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 28 (a)
OneToMany
Species with no ortholog for PDE6A:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for PDE6A Gene

ENSEMBL:
Gene Tree for PDE6A (if available)
TreeFam:
Gene Tree for PDE6A (if available)

Paralogs for PDE6A Gene

Paralogs for PDE6A Gene

Selected SIMAP similar genes for PDE6A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PDE6A: view

Variants for PDE6A Gene

Sequence variations from dbSNP and Humsavar for PDE6A Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs30817 -- 149,895,788(-) CTTTC(C/T)CTCTC intron-variant
rs30818 -- 149,897,004(-) TGAAG(A/C)TCAGA intron-variant
rs30819 -- 149,898,695(-) CTTTA(A/T)GTACA intron-variant
rs30820 -- 149,898,887(-) GACCC(C/T)GTCTC intron-variant
rs30821 -- 149,899,007(-) GCATA(C/T)CTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDE6A Gene

Variant ID Type Subtype PubMed ID
nsv883024 CNV Gain 21882294
dgv727n27 CNV Gain 19166990
esv24664 CNV Gain+Loss 19812545
esv2663162 CNV Deletion 23128226
esv2666734 CNV Deletion 23128226
esv273743 CNV Insertion 20981092
nsv830518 CNV Loss 17160897

Relevant External Links for PDE6A Gene

HapMap Linkage Disequilibrium report
PDE6A
Human Gene Mutation Database (HGMD)
PDE6A
Locus Specific Mutation Databases (LSDB)
PDE6A

Disorders for PDE6A Gene

(1) OMIM Diseases for PDE6A Gene (180071)

UniProtKB/Swiss-Prot

PDE6A_HUMAN
  • Retinitis pigmentosa 43 (RP43) [MIM:613810]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:10393062, ECO:0000269 PubMed:7493036}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PDE6A Gene

(2) Novoseek inferred disease relationships for PDE6A Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 82.4 2
atrophy 34.2 2

Relevant External Links for PDE6A

Genetic Association Database (GAD)
PDE6A
Human Genome Epidemiology (HuGE) Navigator
PDE6A
genes like me logo Genes that share disorders with PDE6A: view

Publications for PDE6A Gene

  1. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. (PMID: 7493036) Huang S.H. … Dryja T.P. (Nat. Genet. 1995) 3 4 23
  2. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. (PMID: 10393062) Dryja T.P. … Berson E.L. (Invest. Ophthalmol. Vis. Sci. 1999) 3 4 23
  3. Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. (PMID: 2155175) Pittler S.J. … Davis R.L. (Genomics 1990) 2 3 4
  4. A novel mutation and phenotypes in phosphodiesterase 6 deficiency. (PMID: 18723146) Tsang S.H. … Allikmets R. (Am. J. Ophthalmol. 2008) 3 23 49
  5. Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity. (PMID: 15001570) Pittler S.J. … White J.B. (J. Biol. Chem. 2004) 3 23

Products for PDE6A Gene

Sources for PDE6A Gene

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