PDE6D - phosphodiesterase 6D Gene

Homo sapiens

Also known as PDED; JBTS22

Gene ID: 5147 | Gene type: protein coding

About PDE6D

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:231,732,433-231,781,282 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 8.3) and 24 other tissues.

Summary

This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key Enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]

PDE6D Products(2)

mRNA	Protein	Name
NM_001291018.2	NP_001277947.1	retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta isoform 2
NM_002601.4	NP_002592.1	retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9712853	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	9712853	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	9712853	GOA
located in cytosol	IDA IDA: Inferred from direct assay	9712853	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

PDE6D Protein Structure

GMP_PDE_delta

0
100
150 a.a.

Protein Preferred Names

Protein Names

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

GMP-PDE delta

Related Diseases

Diseases

Alias

Joubert Syndrome 22

JBTS22

Joubert Syndrome, Type 22

Orofaciodigital Syndrome Vi

OFD6	Varadi-Papp Syndrome
Varadi Syndrome	Joubert Syndrome With Orofaciodigital Defect
Orofaciodigital Syndrome Type 6	Orofaciodigital Syndrome 6
Oral-Facial-Digital Syndrome, Type Vi	Ofds Vi
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation	Polydactyly Cleft Lip Palate Psychomotor Retardation
Oral-Facial-Digital Syndrome Type 6	Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation	Váradi Syndrome
Váradi-Papp Syndrome	Joubert Syndrome With Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome 6	Joubert-Orofaciodigital Syndrome
Orofaciodigital Syndrome, Type Vi

Retinitis Pigmentosa 3

RP3	Retinitis Pigmentosa 15
Rp15	Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
Cone-Rod Degeneration, X-Linked	Retinitis Pigmentosa Type 15
X-Linked Cone-Rod Degeneration	X-Linked Retinitis Pigmentosa 3
Xlrp3	Xlrp-3
Retinitis Pigmentosa-3	Retinitis Pigmentosa, Type 3

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Joubert Syndrome 15

JBTS15

Joubert Syndrome, Type 15

Retinitis Pigmentosa 2

RP2	X-Linked Retinitis Pigmentosa 2
Xlrp2	Xlrp-2
Retinitis Pigmentosa-2	Retinitis Pigmentosa, Type 2

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Primary Syphilis

Early Symptomatic Syphilis	Early Syphilis, Symptomatic
Symptomatic Early Syphilis

Latent Syphilis

Syphilis, Latent

Joubert Syndrome 7

JBTS7	Cerebello-Oculo-Renal Syndrome 3
Cors3	Joubert Syndrome, Type 7

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Nephronophthisis 12

NPHP12	Joubert Syndrome 11
JBTS11	Nephronophthisis, Type 12

Retinitis Pigmentosa 26

RP26	Retinitis Pigmentosa-26
Retinitis Pigmentosa, Type 26

Cerebellar Medulloblastoma

Joubert Syndrome 3

JBTS3	Joubert Syndrome With Ocular Defect
Joubert Syndrome With Ocular Anomalies	Js-O
Joubert Syndrome With Retinopathy	Joubert Syndrome-3
Joubert Syndrome, Type 3

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

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

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

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145319	FPFT-2216	Inhibitor	99.75%	Unkown
HY-145321	TMX-4100	Inhibitor	98.18%	Unkown
HY-145320	TMX-4113	Inhibitor	99.08%	Unkown
HY-163636	Deltaflexin3	Inhibitor	/	Unkown
HY-RS10235	PDE6D Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PDE6D	VGNC	VGNC:44360
Bos taurus	PDE6D	VGNC	VGNC:32682
Felis catus	PDE6D	VGNC	VGNC:80299
Mus musculus	PDE6D	MGD	MGI:1270843
Rattus norvegicus	PDE6D	RGD	RGD:1306204
Macaca mulatta	PDE6D	VGNC	VGNC:104548
Others	PDE6D	NCBI

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