Gene Gene information from NCBI Gene database.
Entrez ID 5145
Gene name Phosphodiesterase 6A
Gene symbol PDE6A
Synonyms (NCBI Gene)
CGPR-APDEARP43
Chromosome 5
Chromosome location 5q32
Summary 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 i
SNPs SNP information provided by dbSNP.
33
SNP ID Visualize variation Clinical significance Consequence
rs17711594 T>G Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign Coding sequence variant, missense variant
rs61733363 G>C Benign-likely-benign, likely-pathogenic, benign Coding sequence variant, missense variant, genic upstream transcript variant
rs121909835 C>T Pathogenic Coding sequence variant, missense variant
rs121918576 G>C Pathogenic Stop gained, coding sequence variant
rs121918577 G>A,T Pathogenic Upstream transcript variant, missense variant, synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
657
miRTarBase ID miRNA Experiments Reference
MIRT696302 hsa-miR-214-5p HITS-CLIP 23313552
MIRT696301 hsa-miR-6811-3p HITS-CLIP 23313552
MIRT696300 hsa-miR-6514-3p HITS-CLIP 23313552
MIRT696299 hsa-miR-5587-5p HITS-CLIP 23313552
MIRT678836 hsa-miR-6813-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 9770645
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180071 8785 ENSG00000132915
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16499
Protein name Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (GMP-PDE alpha) (EC 3.1.4.35) (PDE V-B1)
Protein function Rod-specific cGMP phosphodiesterase that catalyzes the hydrolysis of 3',5'-cyclic GMP (PubMed:20940301). This protein participates in processes of transmission and amplification of the visual signal.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01590 GAF 73 222 GAF domain Domain
PF01590 GAF 254 431 GAF domain Domain
PF00233 PDEase_I 558 803 Domain
Sequence
MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEI
IFDLLRDFQENLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNGIAELATRLFNVHKDAV
LEDCLVMPDQEIVFPLDMGIVGHVAHSKKIANVPNTEEDEHFCDFVDILTEYKTKNILAS
PIMNGKDVVAIIMAVNKVDGSHFTKRDEEILLKYLNFANLIM
KVYHLSYLHNCETRRGQI
LLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLDMTKQKEFFDVWPVLMGEVP
PYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYVAQNGLICNIM
NAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLM
ESLTQFLGWSV
LNPDTYESMNKLENRKDIFQDIVKYHVKCDNEEIQKILKTREVYGKEPW
ECEEEELAEILQAELPDADKYEINKFHFSDLPLTELELVKCGIQMYYELKVVDKFHIPQE
ALVRFMYSLSKGYRKITYHNWRHGFNVGQTMFSLLVTGKLKRYFTDLEALAMVTAAFCHD
IDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKTLLRDESLNIFQNLNRRQHEHAIH
MMDIAIIATDLALYFKKRTMFQKIVDQSKTYESEQEWTQYMMLEQTRKEIVMAMMMTACD
LSAITKPWEVQSQVALLVAAEFWEQGDLERTVLQQNPIPMMDRNKADELPKLQVGFIDFV
CTFVYKEFSRFHEEITPMLDGIT
NNRKEWKALADEYDAKMKVQEEKKQKQQSAKSAAAGN
QPGGNPSPGGATTSKSCCIQ
Sequence length 860
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
Phototransduction
  Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Ca2+ pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
438
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive retinitis pigmentosa Likely pathogenic rs1752838447 RCV001257851
Leber congenital amaurosis Pathogenic rs794727166 RCV000515673
PDE6A-related disorder Likely pathogenic rs2480577993 RCV003397254
Retinal dystrophy Likely pathogenic; Pathogenic rs759589388, rs794727139, rs754012367, rs121909835, rs773065850, rs753942596, rs144484128, rs146591309, rs781377291, rs1581211727, rs748946491, rs759563967, rs1754021035, rs1383907349, rs781616522
View all (3 more)
RCV003888315
RCV004816264
RCV004816276
RCV001074616
RCV001075107
RCV004817725
RCV001075345
RCV001073963
RCV001073345
RCV004818008
RCV004813663
RCV001073639
RCV001075135
RCV001074262
RCV001073714
RCV001073962
RCV001073306
RCV004814010
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs10057110, rs78775072 RCV005898946
RCV005886230
Lymphoma Conflicting classifications of pathogenicity rs78775072 RCV005886233
Malignant tumor of esophagus Conflicting classifications of pathogenicity rs78775072 RCV005886229
Melanoma Conflicting classifications of pathogenicity rs78775072 RCV005886234
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 33057649
Carcinoma Hepatocellular Associate 36714595
Cone Rod Dystrophies Associate 30998820, 39596324
Diabetes Gestational Associate 30185669
Diabetic Retinopathy Associate 37318461
Hypertensive Retinopathy Associate 39218074
Leber Congenital Amaurosis Associate 36140798
Macular Edema Associate 33057649
Neoplasms Adipose Tissue Associate 38190589
Night Blindness Associate 30998820, 36140798