PDE6C - phosphodiesterase 6C Gene

Also Known as COD4; ACHM5; PDEA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5146

About PDE6C

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,612,537-93,666,010 (from NCBI)

This gene has 2 transcripts (splice variants), 223 orthologues, 20 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]

PDE6C Products (1)

mRNA	Protein	Name
NM_006204.4	NP_006195.3	cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

PDE6C Protein Structure

GAF

PDEase_I

0
200
400
600
800
858 a.a.

Protein Preferred Names	Protein Names
cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'	cGMP phosphodiesterase 6C

Related Diseases

Diseases	Alias
Cone Dystrophy 4	Achromatopsia 5 COD4 ACHM5 Dystrophy, Cone, Type 4
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Tritanopia	Blue Color Blindness Colorblindness, Tritan Blue Colorblindness CBT Colorblindness, Tritanopic Tritan Defect Blue Colour Blindness Congenital Tritanopia Tritan Colour Blindness Tritan Color Blindness Color Vision Defects Color Blindness, Blue Color Vision Defect Color Blindness
Achromatopsia 4	ACHM4 Achromatopsia, Type 4
Achromatopsia 7	ACHM7 Achromatopsia, Type 7
Epidemic Pleurodynia	Bornholm Disease Epidemic Myalgia Pleurodynia, Epidemic Devil'S Grip Bamble Disease Epidemic Pleurisy Epidemic, Myositis Dabney'S Grip Epidemic Benign Dry Pleurisy Epidemic Cervical Myalgia
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 3
Achromatopsia 2	ACHM2 Rod Monochromatism 2 Rod Monochromacy 2 Rmch2 Colorblindness, Total Complete Achromatopsia Total Colorblindness Achromatopsia-2 Achromatopsia, Type 2 Color Blindness Achromatopsia
Cycloplegia	Ciliary Muscle Paresis Cycloplegic Paralysis Of Accommodation Paresis Of Accommodation Visual Accommodation Paralysis Accommodation Paralysis Intrinsic Paralysis Of Eye Muscle Cycloplegic
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Prolonged Electroretinal Response Suppression	Bradyopsia PERRS
Retinal Cone Dystrophy 3b	RCD3B Cone Dystrophy With Supernormal Rod Response Cone Dystrophy With Supernormal Rod Electroretinogram Cone Dystrophy With Supernormal Rod Responses Cdsrr Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Kcnv2-Related Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2 Related Cone Dystrophy With Supernormal Rod Erg Cone Dystrophy With Supernormal Scotopic Electroretinogram Cone Dystrophy Retinal 3b Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2-Related Doid:0081022 Dystrophy, Retinal Cone, Type 3b
Eye Accommodation Disease
Occult Macular Dystrophy	OCMD Omd Dystrophy, Macular, Occult
Solar Retinopathy	Solar Retinitis
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Pathologic Nystagmus	Nystagmus
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-112704	PDE5-IN-2	Inhibitor	/	Unkown
HY-RS10234	PDE6C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21685	Pde6c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28203	Pde6c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDE6C	VGNC	VGNC:32681
Canis familiaris	PDE6C	VGNC	VGNC:44359
Mus musculus	PDE6C	MGD	MGI:105956
Rattus norvegicus	PDE6C	RGD	RGD:1309844
Macaca mulatta	PDE6C	VGNC	VGNC:75921
Felis catus	PDE6C	VGNC	VGNC:97549
Others	PDE6C	NCBI