PDE6C - phosphodiesterase 6C Gene

Homo sapiens

Also known as COD4; ACHM5; PDEA2

Gene ID: 5146 | Gene type: protein coding

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112704	PDE5-IN-2	Inhibitor	/	Unkown
HY-RS10234	PDE6C Human Pre-designed siRNA Set A		/	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