PDE6H - phosphodiesterase 6H Gene

Also Known as RCD3; ACHM6

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5149

About PDE6H

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:14,973,042-14,981,865 (from NCBI)

This gene has 1 transcript (splice variant), 249 orthologues, 1 paralogue and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

PDE6H Products (1)

mRNA	Protein	Name
NM_006205.3	NP_006196.1	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

PDE6H Protein Structure

PDE6_gamma

0
83 a.a.

Protein Preferred Names	Protein Names
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma	GMP-PDE gamma

PDE6H Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PDE6H	Q13956	AGTR1	Homo sapiens	Q6NUP5	Validated Y2H	25416956
Intra	PDE6H	Q13956	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
Intra	PDE6H	Q13956	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
Intra	PDE6H	Q13956	CHAT	Homo sapiens	P28329-3	Y2H Pooling	32814053
Intra	PDE6H	Q13956	CHAT	Homo sapiens	P28329-3	Validated Y2H	32814053
Intra	PDE6H	Q13956	CHAT	Homo sapiens	P28329-3	Y2H Array	32814053
Intra	PDE6H	Q13956	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	PDE6H	Q13956	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	PDE6H	Q13956	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	PDE6H	Q13956	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32814053
Intra	PDE6H	Q13956	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32814053
Intra	PDE6H	Q13956	UBQLN1	Homo sapiens	Q9UMX0	Y2H Pooling	32814053
Intra	PDE6H	Q13956	COTL1	Homo sapiens	Q14019	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Retinal Cone Dystrophy 3a	Achromatopsia 6 RCD3A Retinal Cone Dystrophy 3 Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Pde6h-Related Cone Dystrophy With Night Blindness And Supernormal Rod Responses Pde6h-Related Cone Dystrophy, Retinal 3a Cone Dystrophy With Night Blindness And Supernormal Rod Responses Cone Dystrophy With Supernormal Rod Electroretinogram Dystrophy, Retinal Cone, Type 3a
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
Epidemic Pleurodynia	Bornholm Disease Epidemic Myalgia Pleurodynia, Epidemic Devil'S Grip Bamble Disease Epidemic Pleurisy Epidemic, Myositis Dabney'S Grip Epidemic Benign Dry Pleurisy Epidemic Cervical Myalgia
Achromatopsia 4	ACHM4 Achromatopsia, Type 4
Achromatopsia 7	ACHM7 Achromatopsia, Type 7
Achromatopsia 2	ACHM2 Rod Monochromatism 2 Rod Monochromacy 2 Rmch2 Colorblindness, Total Complete Achromatopsia Total Colorblindness Achromatopsia-2 Achromatopsia, Type 2 Color Blindness Achromatopsia
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 3
Tritanopia	Blue Color Blindness Colorblindness, Tritan Blue Colorblindness CBT Colorblindness, Tritanopic Tritan Defect Blue Colour Blindness Congenital Tritanopia Tritan Colour Blindness Tritan Color Blindness Color Vision Defects Color Blindness, Blue Color Vision Defect Color Blindness
Acatalasemia	Acatalasia Catalase Deficiency Deficiency Of Catalase ACATLAS Takahara'S Disease Takahara Disease
Orbit Lymphoma	Orbital Lymphoma Lymphoma Of The Orbit
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
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Cone-Rod Dystrophy 11	CORD11 Dystrophy, Cone-Rod, Type 11
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
Night Blindness	Nyctalopia
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Cycloplegia	Ciliary Muscle Paresis Cycloplegic Paralysis Of Accommodation Paresis Of Accommodation Visual Accommodation Paralysis Accommodation Paralysis Intrinsic Paralysis Of Eye Muscle Cycloplegic
Cone-Rod Dystrophy 1	CORD1 Crd1 Cone-Rod Retinal Dystrophy-1 Retinitis Pigmentosa 1
Retinitis Pigmentosa 45	RP45 Retinitis Pigmentosa, Type 45
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
Prolonged Electroretinal Response Suppression	Bradyopsia PERRS
Eye Accommodation Disease
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
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
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
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
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

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS10237	PDE6H Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	PDE6H	RGD	RGD:70933
Canis familiaris	PDE6H	VGNC	VGNC:44362
Bos taurus	PDE6H	VGNC	VGNC:32684
Mus musculus	PDE6H	MGD	MGI:1925850
Others	PDE6H	NCBI