PDE6D - phosphodiesterase 6D Gene

Also Known as PDED; JBTS22

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5147

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	References	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	References	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

PDE6D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Y2H Array	31515488
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Y2H Prey Pooling	25416956
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Validated Y2H	25416956
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Y2H Prey Pooling	32296183
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Validated Y2H	32296183
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Y2H Array	25416956
Intra	PDE6D	O43924	ARL16	Homo sapiens	Q0P5N6	Y2H Array	32296183
Cross	PDE6D	O43924	Arl2	Mus musculus	Q9D0J4	Pull Down	23559067
Cross	PDE6D	O43924	Arl2	Mus musculus	Q9D0J4	X-Ray Diffraction	11980706
Intra	PDE6D	O43924	OTP	Homo sapiens	Q5XKR4	Y2H Prey Pooling	32296183
Intra	PDE6D	O43924	OTP	Homo sapiens	Q5XKR4	Validated Y2H	32296183
Intra	PDE6D	O43924	OTP	Homo sapiens	Q5XKR4	Y2H Array	32296183
Intra	PDE6D	O43924	RAB13	Homo sapiens	P51153	Y2H	9712853
Cross	PDE6D	O43924	tir	Escherichia coli O157:H7	Q7DB77	Y2H	25519916
Cross	PDE6D	O43924	tir	Escherichia coli O157:H7	Q7DB77	Lumier	25519916
Intra	PDE6D	O43924	RPGR	Homo sapiens	Q92834	Anti Tag CoIP	33961781
Intra	PDE6D	O43924	RPGR	Homo sapiens	Q92834	FPS	23559067
Intra	PDE6D	O43924	RPGR	Homo sapiens	Q92834	Pull Down	30257685
Intra	PDE6D	O43924	RPGR	Homo sapiens	Q92834	Pull Down	23559067
Intra	PDE6D	O43924	RPGR	Homo sapiens	Q92834	GMS	23559067
Intra	PDE6D	O43924	Q15382-PRO_0000082708	Homo sapiens	Q15382-PRO_0000082708	FPS	23559067
Intra	PDE6D	O43924	Q15382-PRO_0000082708	Homo sapiens	Q15382-PRO_0000082708	Pull Down	23559067
Cross	PDE6D	O43924	Arl3	Mus musculus	Q9WUL7	Pull Down	23559067
Cross	PDE6D	O43924	Arl3	Mus musculus	Q9WUL7	GMS	23559067
Intra	PDE6D	O43924	ARL15	Homo sapiens	Q9NXU5	Y2H Prey Pooling	32296183
Intra	PDE6D	O43924	ARL15	Homo sapiens	Q9NXU5	Validated Y2H	32296183
Intra	PDE6D	O43924	ARL15	Homo sapiens	Q9NXU5	Y2H Array	32296183
Intra	PDE6D	O43924	ARL3	Homo sapiens	P36405	Anti Tag CoIP	33961781
Intra	PDE6D	O43924	ARL3	Homo sapiens	P36405	Y2H Prey Pooling	32296183
Intra	PDE6D	O43924	ARL3	Homo sapiens	P36405	Pull Down	30257685
Intra	PDE6D	O43924	ARL3	Homo sapiens	P36405	Validated Y2H	32296183
Intra	PDE6D	O43924	ARL3	Homo sapiens	P36405	Y2H Array	32296183
Intra	PDE6D	O43924	ARL3	Homo sapiens	P36405	FPS	18588884
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Y2H Array	32296183
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Y2H	21516116
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Y2H Array	31515488
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Y2H Prey Pooling	25416956
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Validated Y2H	32296183
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Anti Tag CoIP	33961781
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Y2H Prey Pooling	32296183
Intra	PDE6D	O43924	ARL2	Homo sapiens	P36404	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145319	FPFT-2216	Inhibitor	99.55%	Unkown
HY-145321	TMX-4100	Inhibitor	98.26%	Unkown
HY-145320	TMX-4113	Inhibitor	99.08%	Unkown
HY-RS10235	PDE6D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-163636	Deltaflexin3	Inhibitor	/	Unkown
HY-174379	KRAS IN-44		/	Unkown
HY-175602	TM-04-064-02	Degrader	/	Unkown
HY-183717	M4K3233		/	Unkown
HY-RS22712	Pde6d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29226	Pde6d Rat Pre-designed siRNA Set A	Pre-designed Set	/	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