PDE6H (phosphodiesterase 6H)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5149
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphodiesterase 6H
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDE6H
Synonyms (NCBI Gene) Gene synonyms aliases
ACHM6, RCD3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.3
Summary Summary of gene provided in NCBI Entrez 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 i
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT017528 hsa-miR-335-5p Microarray 18185580
MIRT1220882 hsa-miR-421 CLIP-seq
MIRT1220883 hsa-miR-4709-5p CLIP-seq
MIRT2292169 hsa-miR-488 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
GO:0004857 Function Enzyme inhibitor activity TAS 8786098
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0007601 Process Visual perception IEA
GO:0007601 Process Visual perception TAS 8786098
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601190 8790 ENSG00000139053
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13956
Protein name Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (GMP-PDE gamma) (EC 3.1.4.35)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04868 PDE6_gamma 2 → 83 Retinal cGMP phosphodiesterase, gamma subunit Family
Sequence
Sequence length 83
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Purine metabolism
Metabolic pathways 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Retinal Cone Dystrophy retinal cone dystrophy 3a rs200311463 N/A
retinal dystrophy Retinal dystrophy rs200311463 N/A
Show/Hide Unknown Diseases (2)
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
Achromatopsia achromatopsia N/A N/A GenCC
Cone Dystrophy Cone dystrophy 3 N/A N/A ClinVar
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Color Vision Defects Associate 22901948, 31237654, 32913385, 34360608, 36980963, 37372476
Cone Dystrophy Associate 22901948
Leukemia Lymphocytic Chronic B Cell Associate 8104536
Lymphoma Non Hodgkin Associate 8104536
Myopia Associate 36980963
Neoplasms Inhibit 8104536
Parkinson Disease Associate 38272954