PDE6A - phosphodiesterase 6A Gene

Homo sapiens

Also known as PDEA; RP43; CGPR-A

Gene ID: 5145 | Gene type: protein coding

About PDE6A

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:149,857,953-149,944,793 (from NCBI)

This gene has 4 transcripts (splice variants), 100 orthologues, 20 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

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 important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and Guanylate Cyclase cGMP synthesis. The protein is a subunit of a key phototransduction Enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

PDE6A Products(7)

mRNA	Protein	Name
NM_001410788.1	NP_001397717.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform 2
XM_011537654.2	XP_011535956.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X4
XM_017009572.3	XP_016865061.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X1
XM_011537650.3	XP_011535952.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X2
XM_011537653.2	XP_011535955.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X4
NM_000440.3	NP_000431.2	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform 1
XM_011537651.2	XP_011535953.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X3

PDE6A Protein Structure

GAF

PDEase_I

0
200
400
600
800
860 a.a.

Protein Preferred Names

Protein Names

rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

GMP-PDE alpha	PDE V-B1
cGMP phosphodiesterase alpha subunit	phosphodiesterase 6A, cGMP-specific, rod, alpha
retinitis pigmentosa type 43	rod photoreceptor cGMP phosphodiesterase alpha subunit

Related Diseases

Diseases

Alias

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Retinitis

Acatalasemia

Acatalasia	Catalase Deficiency
Deficiency Of Catalase	ACATLAS
Takahara'S Disease	Takahara Disease

Retinitis Pigmentosa 25

RP25	Retinitis Pigmentosa-25
Retinitis Pigmentosa, Type 25

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Macular Retinal Edema

Macular Edema	Macular Oedema
Macular Retinal Oedema	Macular Edema, Cystoid

Eye Degenerative Disease

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophies

Retinitis Pigmentosa 29

RP29

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

Macular Dystrophy, Dominant Cystoid

Cystoid Macular Edema	DCMD
Cystoid Macular Dystrophy	Macular Edema, Cystoid
Autosomal Dominant Cystoid Macular Edema	Cymd
Mddc	Familial Macular Edema
Macular Edema	Macular Retinal Edema

Nephronophthisis 4

NPHP4	Juvenile Nephronophthisis 4
Nephronophthisis 4, Juvenile	Nephronophthisis, Type 4

Retinitis Pigmentosa 26

RP26	Retinitis Pigmentosa-26
Retinitis Pigmentosa, Type 26

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Fundus Albipunctatus

Retinitis Punctata Albescens	Pigmentary Retinal Dystrophy
RPA	Albipunctate Retinal Dystrophy
Lauber'S Disease	FALBI
Fa

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Retinitis Pigmentosa 1

RP1	Retinitis Pigmentosa-1
Retinitis Pigmentosa, Type 1

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

Retinitis Pigmentosa 43

RP43	Retinitis Pigmentosa, Type 43

Cone-Rod Dystrophy 1

CORD1	Crd1
Cone-Rod Retinal Dystrophy-1	Retinitis Pigmentosa 1

Leber Congenital Amaurosis 4

LCA4	Retinitis Pigmentosa, Juvenile
Cone-Rod Dystrophy	Leber Congenital Amaurosis, Type 4
Retinitis Pigmentosa

Retinitis Pigmentosa 14

RP14	Retinitis Pigmentosa Juvenile Tulp1-Related
Retinitis Pigmentosa-14	Retinitis Pigmentosa, Type 14

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

Night Blindness

Nyctalopia

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

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

Bardet-Biedl Syndrome 4

BBS4	Bardet-Biedl Syndrome, Type 4

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 (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS10230	PDE6A Human Pre-designed siRNA Set A	/	Unkown
HY-RS10231	Pde6a Mouse Pre-designed siRNA Set A	/	Unkown
HY-RS10232	Pde6a Rat Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PDE6A	VGNC	VGNC:75919
Mus musculus	PDE6A	MGD	MGI:97524
Felis catus	PDE6A	VGNC	VGNC:68761
Bos taurus	PDE6A	VGNC	VGNC:32679
Canis familiaris	PDE6A	VGNC	VGNC:44357
Rattus norvegicus	PDE6A	RGD	RGD:1306835

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