1. Gene
  2. PDE6C - phosphodiesterase 6C Gene

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

GAF: GAF domain (77 - 222)

GAF

GAF: GAF domain (256 - 433)

PDEase_I

PDEase_I: 3'5'-cyclic nucleotide phosphodiesterase (561 - 809)

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  • 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

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