PDE6G - phosphodiesterase 6G Gene

Also Known as PDEG; RP57

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5148

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 References 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

PDE6_gamma: Retinal cGMP phosphodiesterase, gamma subunit (5 - 87)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others PDE6G NCBI