PDE6B - phosphodiesterase 6B Gene

Homo sapiens

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

Gene ID: 5158 | Gene type: protein coding

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

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