PDE6B - phosphodiesterase 6B Gene

Also Known as rd1; PDEB; RP40; CSNB3; CSNBAD2; GMP-PDEbeta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5158

About PDE6B

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:625,573-670,782 (from NCBI)

This gene has 12 transcripts (splice variants), 282 orthologues, 20 paralogues and is associated with 6 phenotypes. Broad expression in brain (RPKM 2.0), thyroid (RPKM 1.1) and 19 other tissues.

Summary

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

PDE6B Products (7)

mRNA	Protein	Name
NM_000283.4	NP_000274.3	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 1
NM_001145291.2	NP_001138763.2	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 2
NM_001145292.2	NP_001138764.2	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 3
NM_001350154.3	NP_001337083.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 4
NM_001350155.3	NP_001337084.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 5
NM_001379246.1	NP_001366175.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 3
NM_001379247.1	NP_001366176.1	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 3

PDE6B Protein Structure

GAF

PDEase_I

0
200
400
600
800
854 a.a.

Protein Preferred Names	Protein Names
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta	GMP-PDE beta

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 40	RP40 Retinitis Pigmentosa-40 Retinitis Pigmentosa, Type 40
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital Stationary Night Blindness Autosomal Dominant 2 CSNBAD2 Hemeralopia Night Blindness, Congenital Stationary, Rambusch Type Rambusch Type Congenital Stationary Night Blindness Congenital Stationary Night Blindness Rambusch Type Hemeralopia Congenital Essential Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2
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
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Night Blindness	Nyctalopia
Autosomal Dominant Congenital Stationary Night Blindness	Adcsnb Csnbad Night Blindness, Congenital Stationary, Autosomal Dominant
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Retinitis
Tuberculous Pneumothorax
Retinal Degeneration	Degeneration Of Retina
Bladder Tuberculosis	Tuberculous Cystitis Tuberculosis Of Bladder
Typhoidal Tularemia
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Eye Degenerative Disease
Ulceroglandular Tularemia
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Extrapulmonary Tuberculosis	EPTB Tuberculosis, Extrapulmonary
Suppurative Lymphadenitis	Suppurative Lymphadenopathy
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Miliary Tuberculosis	Acute Miliary Tuberculosis Disseminated Tuberculosis Tuberculosis, Miliary Generalized Tuberculosis Tuberculosis Miliaris Disseminata Tuberculosis Miliary Tuberculosis Disseminated Miliary Tb - [Tuberculosis] Generalised Tuberculosis Concato Disease Diffuse Necrotic Tuberculosis Diffuse Necrotizing Tuberculosis Diffuse Tuberculous Degeneration Diffuse Tuberculous Gangrene Mtb - [Miliary Tuberculosis] Miliary Tuberculous Miliary Tuberculosis Unspecified Disseminated Miliary Tuberculosis Disseminated Necrotic Tuberculosis Disseminated Necrotizing Tuberculosis Disseminated Tuberculous Gangrene Disseminated Tuberculous Degeneration
Skeletal Tuberculosis	Tuberculosis, Osteoarticular Osteoarticular Tuberculosis
Cervical Adenitis	Cervical Lymphadenitis
Tularemia	Francisella Tularensis Infection Deerfly Fever Lemming Fever Ohara Disease Pahvant Valley Plague Rabbit Fever Yatobyo
Primary Bacterial Infectious Disease
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 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
Abnormal Threshold Of Rods	Abnormal Dark Adaptation Curve
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
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Inflammatory Bowel Disease 18	IBD18
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
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
Sensory System Disease
Mycobacterium Tuberculosis 1	Tuberculosis Tuberculoma Tuberculosis, Susceptibility To Mycobacterium Tuberculosis, Susceptibility To, 1 Mtbs1 TB
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
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
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10233	PDE6B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PDE6B	VGNC	VGNC:68762
Rattus norvegicus	PDE6B	RGD	RGD:1311039
Bos taurus	PDE6B	VGNC	VGNC:32680
Macaca mulatta	PDE6B	VGNC	VGNC:75920
Mus musculus	PDE6B	MGD	MGI:97525
Canis familiaris	PDE6B	VGNC	VGNC:44358
Others	PDE6B	NCBI