PDE6G - phosphodiesterase 6G Gene

Homo sapiens

Also known as PDEG; RP57

Gene ID: 5148 | Gene type: protein coding

About PDE6G

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,650,459-81,663,127 (from NCBI)

This gene has 5 transcripts (splice variants), 194 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in spleen (RPKM 3.3), lymph node (RPKM 1.9) and 12 other tissues.

Summary

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of Other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

PDE6G Products(3)

mRNA	Protein	Name
NM_001365724.1	NP_001352653.1	retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
NM_001365725.1	NP_001352654.1	retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
NM_002602.4	NP_002593.1	retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16357825	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDE6G Protein Structure

PDE6_gamma

0
87 a.a.

Protein Preferred Names

Protein Names

retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

GMP-PDE gamma

PDE6G Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PDE6G	P18545	L3MBTL3	Homo sapiens	Q96JM7	Y2H Prey Pooling	25416956
Intra	PDE6G	P18545	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	PDE6G	P18545	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	PDE6G	P18545	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	PDE6G	P18545	BHLHE40	Homo sapiens	O14503	Validated Y2H	25416956
Intra	PDE6G	P18545	BHLHE40	Homo sapiens	O14503	Y2H Prey Pooling	25416956
Cross	PDE6G	P18545	Fnbp1	Rattus norvegicus	Q8R511	Y2H	16357825
Cross	PDE6G	P18545	Fnbp1	Rattus norvegicus	Q8R511	Pull Down	16357825
Cross	PDE6G	P18545	Grb2	Rattus norvegicus	P62994	Pull Down	16357825
Cross	PDE6G	P18545	Pacsin2	Rattus norvegicus	Q9QY17	Anti Bait CoIP	16357825
Cross	PDE6G	P18545	Pacsin2	Rattus norvegicus	Q9QY17	Pull Down	16357825
Cross	PDE6G	P18545	Pik3r1	Rattus norvegicus	Q63787	Pull Down	16357825

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 57

RP57	Pde6g-Related Retinitis Pigmentosa
Retinitis Pigmentosa, Type 57

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

Accommodative Esotropia

Esotropia With Accommodative Compensation

Exudative Vitreoretinopathy 5

EVR5	Vitreoretinopathy, Exudative 5
Vitreoretinopathy, Exudative, Type 5

Cone-Rod Dystrophy 19

CORD19

Dystrophy, Cone-Rod, Type 19

Paralytic Squint

Paralytic Strabismus

Incomitant Dissociation

Retinal Degeneration

Degeneration Of Retina

Retinitis Pigmentosa 29

RP29

Oguchi Disease 2

Oguchi Disease-2	CSNBO2
Night Blindness, Congenital Stationary, Oguchi Type 2	Congenital Stationary Night Blindness Oguchi Type 2

Pigmented Paravenous Chorioretinal Atrophy

Pigmented Paravenous Retinochoroidal Atrophy	PPCRA
Pprca	Atrophy, Chorioretinal, Pigmented Paravenous

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Congenital Stationary Night Blindness

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

Exotropia

Divergent Concomitant Strabismus	Divergent Strabismus
Divergent Squint	External Strabismus
Xt - [Exotropia]

Achromatopsia

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

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

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

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10236	PDE6G Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PDE6G	MGD	MGI:97526
Rattus norvegicus	PDE6G	RGD	RGD:1591130
Macaca mulatta	PDE6G	VGNC	VGNC:104641
Bos taurus	PDE6G	VGNC	VGNC:32683
Canis familiaris	PDE6G	VGNC	VGNC:44361
Felis catus	PDE6G	VGNC	VGNC:68763

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