PDE6A - phosphodiesterase 6A Gene

Also Known as PDEA; RP43; CGPR-A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5145

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

Pre-clinical Phase

Bioactive Molecules (3)

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