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Aliases for PDE6A Gene

Aliases for PDE6A Gene

  • Phosphodiesterase 6A 2 3 5
  • Phosphodiesterase 6A, CGMP-Specific, Rod, Alpha 2 3
  • GMP-PDE Alpha 3 4
  • EC 3.1.4.35 4 63
  • PDE V-B1 3 4
  • PDEA 3 4
  • Rod Photoreceptor CGMP Phosphodiesterase Alpha Subunit 3
  • CGMP Phosphodiesterase Alpha Subunit 3
  • EC 3.1.4 63
  • CGPR-A 3
  • RP43 3

External Ids for PDE6A Gene

Previous HGNC Symbols for PDE6A Gene

  • PDEA

Previous GeneCards Identifiers for PDE6A Gene

  • GC05M149310
  • GC05M149827
  • GC05M149268
  • GC05M149220
  • GC05M144384

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) is a Protein Coding gene. Diseases associated with PDE6A include retinitis pigmentosa 43 and pde6a-related retinitis pigmentosa. Among its related pathways are Phototransduction and Pyrimidine metabolism (KEGG). GO annotations related to this gene include 3,5-cyclic-nucleotide phosphodiesterase activity and 3,5-cyclic-GMP phosphodiesterase activity. An important paralog of this gene is PDE6B.

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 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.

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

Regulatory Elements for PDE6A Gene

Enhancers for PDE6A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDE6A on UCSC Golden Path with GeneCards custom track

Promoters for PDE6A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDE6A on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE6A Gene

Chromosome:
5
Start:
149,857,955 bp from pter
End:
149,959,518 bp from pter
Size:
101,564 bases
Orientation:
Minus strand

Genomic View for PDE6A Gene

Genes around PDE6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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:
REFSEQ proteins:

Domains & Families for PDE6A Gene

Gene Families for PDE6A Gene

Protein Domains for PDE6A Gene

Graphical View of Domain Structure for InterPro Entry

P16499

UniProtKB/Swiss-Prot:

PDE6A_HUMAN :
  • Contains 2 GAF domains.
  • Belongs to the cyclic nucleotide phosphodiesterase family.
Domain:
  • Contains 2 GAF domains.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family.
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

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

Human Phenotype Ontology for PDE6A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PDE6A

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytosol 5
plasma membrane 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDE6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IMP --
genes like me logo Genes that share ontologies with PDE6A: view

Pathways & Interactions for PDE6A Gene

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

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 IEA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
GO:0046037 GMP metabolic process IMP 19946729
genes like me logo Genes that share ontologies with PDE6A: view

No data available for SIGNOR curated interactions for PDE6A Gene

Drugs & Compounds for PDE6A Gene

(5) Drugs for PDE6A Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, Target, inhibitor, competitive 349
Dipyridamole Approved Pharma Inhibition, Inhibitor Adenosine transport inhibitor 78
Cyclic GMP Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

(5) Additional Compounds for PDE6A Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Etazolate hydrochloride
35838-58-5
MMPX
78033-08-6
MY-5445
78351-75-4
Ro 20-1724
29925-17-5

(5) Tocris Compounds for PDE6A Gene

Compound Action Cas Number
Dipyridamole Adenosine transport inhibitor 58-32-2
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
MMPX PDE1 inhibitor 78033-08-6
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5
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 (x8.8), Pituitary (x8.6), Testis (x7.8), and Esophagus - Mucosa (x5.5).

Protein differential expression in normal tissues from HIPED for PDE6A Gene

This gene is overexpressed in Retina (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PDE6A: view

Protein tissue co-expression partners for PDE6A Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PDE6A Gene

Orthologs for PDE6A Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE6A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDE6A 35
  • 90.38 (n)
  • 93.36 (a)
PDE6A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE6A 35
  • 91.28 (n)
  • 95.12 (a)
PDE6A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde6a 35
  • 87.83 (n)
  • 95 (a)
Pde6a 16
Pde6a 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDE6A 35
  • 99.5 (n)
  • 99.65 (a)
PDE6A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde6a 35
  • 88.33 (n)
  • 94.77 (a)
oppossum
(Monodelphis domestica)
Mammalia PDE6A 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE6A 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6a 35
  • 71.83 (n)
  • 78.11 (a)
zebrafish
(Danio rerio)
Actinopterygii pde6a 35
  • 72.24 (n)
  • 77.54 (a)
pde6a 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pde6 36
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pde-3 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(6) 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
VAR_006049 Retinitis pigmentosa 43 (RP43)
VAR_025460 Retinitis pigmentosa 43 (RP43)
VAR_025461 Retinitis pigmentosa 43 (RP43)
VAR_025462 -
VAR_025463 -

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

Variation tolerance for PDE6A Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDE6A Gene

HapMap Linkage Disequilibrium report
PDE6A
Human Gene Mutation Database (HGMD)
PDE6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE6A Gene

Disorders for PDE6A Gene

MalaCards: The human disease database

(6) MalaCards diseases for PDE6A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 43
  • rp43
pde6a-related retinitis pigmentosa
retinitis pigmentosa
  • retinitis pigmentosa 1
macular dystrophy, dominant cystoid
  • cystoid macular edema
macular retinal edema
  • macular edema
- elite association - COSMIC cancer census association via MalaCards
Search PDE6A in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PDE6A

Genetic Association Database (GAD)
PDE6A
Human Genome Epidemiology (HuGE) Navigator
PDE6A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDE6A
genes like me logo Genes that share disorders with PDE6A: view

No data available for Genatlas for PDE6A Gene

Publications for PDE6A Gene

  1. 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 67
  2. A novel mutation and phenotypes in phosphodiesterase 6 deficiency. (PMID: 18723146) Tsang S.H. … Allikmets R. (Am. J. Ophthalmol. 2008) 3 23
  3. Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. (PMID: 17110911) Riazuddin S.A. … Hejtmancik J.F. (Mol. Vis. 2006) 3 23
  4. 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
  5. 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 23

Products for PDE6A Gene

Sources for PDE6A Gene

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