Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5145
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphodiesterase 6A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDE6A
Synonyms (NCBI Gene) Gene synonyms aliases
CGPR-A, PDEA, RP43
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez 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 i
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
SP1 Unknown 9770645
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180071 8785 ENSG00000132915
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
retinal dystrophy Retinal dystrophy rs753942596, rs1753232409, rs794727139, rs748946491, rs144484128, rs759563967, rs754012367, rs781377291, rs1754021035, rs773065850, rs1383907349, rs146591309, rs1581211727, rs781616522, rs121909835
View all (1 more)
N/A
Retinitis Pigmentosa retinitis pigmentosa, retinitis pigmentosa 43 rs748946491, rs1581190641, rs1581166539, rs144484128, rs1753232409, rs1265680220, rs754012367, rs976670244, rs1581217626, rs781377291, rs121918576, rs1561671507, rs146591309, rs759563967, rs1060499536
View all (22 more)
N/A
Leber Congenital Amaurosis leber congenital amaurosis rs794727166 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Usher Syndrome usher syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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