RPGR - retinitis pigmentosa GTPase regulator Gene

Also Known as CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6103

About RPGR

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:38,269,163-38,327,509 (from NCBI)

This gene has 19 transcripts (splice variants), 259 orthologues, 9 paralogues and is associated with 11 phenotypes. Ubiquitous expression in testis (RPKM 2.6), lung (RPKM 2.3) and 25 other tissues.

Summary

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]

RPGR Products (9)

mRNA	Protein	Name
NM_000328.3	NP_000319.1	X-linked retinitis pigmentosa GTPase regulator isoform A
NM_001034853.2	NP_001030025.1	X-linked retinitis pigmentosa GTPase regulator isoform C
NM_001367245.1	NP_001354174.1	X-linked retinitis pigmentosa GTPase regulator isoform D
NM_001367246.1	NP_001354175.1	X-linked retinitis pigmentosa GTPase regulator isoform E
NM_001367247.1	NP_001354176.1	X-linked retinitis pigmentosa GTPase regulator isoform F
NM_001367248.1	NP_001354177.1	X-linked retinitis pigmentosa GTPase regulator isoform G
NM_001367249.1	NP_001354178.1	X-linked retinitis pigmentosa GTPase regulator isoform H
NM_001367250.1	NP_001354179.1	X-linked retinitis pigmentosa GTPase regulator isoform I
NM_001367251.1	NP_001354180.1	X-linked retinitis pigmentosa GTPase regulator isoform J

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9990021	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	21933838	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	9399904	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	15772089	GOA
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	12140192	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

RPGR Protein Structure

RCC1

0
200
400
600
800
1020 a.a.

Protein Preferred Names	Protein Names
X-linked retinitis pigmentosa GTPase regulator	retinitis pigmentosa 15

RPGR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RPGR	Q92834	HOMEZ	Homo sapiens	Q8IX15-3	Validated Y2H	26871637
Intra	RPGR	Q92834	HOMEZ	Homo sapiens	Q8IX15-3	Y2H Array	26871637
Intra	RPGR	Q92834	HOMEZ	Homo sapiens	Q8IX15-3	Y2H Prey Pooling	26871637
Intra	RPGR	Q92834	RPGRIP1	Homo sapiens	Q96KN7	Validated Y2H	25416956
Intra	RPGR	Q92834	RPGRIP1	Homo sapiens	Q96KN7	Y2H Array	25416956
Intra	RPGR	Q92834	RPGRIP1	Homo sapiens	Q96KN7-4	Validated Y2H	25910212
Intra	RPGR	Q92834	RPGRIP1	Homo sapiens	Q96KN7-4	Y2H Bait-Prey Pool	25910212
Intra	RPGR	Q92834	RPGRIP1	Homo sapiens	Q96KN7-4	Y2H Array	25910212
Intra	RPGR	Q92834	NPHP4	Homo sapiens	O75161	Pull Down	20664800
Intra	RPGR	Q92834	NPHP4	Homo sapiens	O75161	BioID	26638075
Intra	RPGR	Q92834	NPHP4	Homo sapiens	O75161	Anti Tag CoIP	33961781
Cross	RPGR	Q92834	Pde6d	Mus musculus	O55057	Pull Down	9990021
Intra	RPGR	Q92834	PDE6D	Homo sapiens	O43924	X-Ray Diffraction	23559067
Intra	RPGR	Q92834	NPHP1	Homo sapiens	O15259	Anti Tag CoIP	33961781
Intra	RPGR	Q92834	NPHP1	Homo sapiens	O15259	Pull Down	20664800

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Retinitis Pigmentosa And Sinorespiratory Infections With Or Without Deafness RPDSI X-Linked Retinitis Pigmentosa With Deafness And Sinorespiratory Infections Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Deafness Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With/Without Deafness
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
Macular Degeneration, X-Linked Atrophic	X-Linked Atrophic Macular Degeneration Macular Degeneration, X-Linked, Atrophic MDXLA Degeneration, Macular, X-Linked Atrophic
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
X-Linked Retinitis Pigmentosa And Sinorespiratory Infections	Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome
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 Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis
Retinitis Pigmentosa 6	RP6 Retinitis Pigmentosa, X-Linked Recessive, 6 Retinitis Pigmentosa-6, X-Linked Recessive
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Retinitis Pigmentosa 2	RP2 X-Linked Retinitis Pigmentosa 2 Xlrp2 Xlrp-2 Retinitis Pigmentosa-2 Retinitis Pigmentosa, Type 2
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Retinal Degeneration	Degeneration Of Retina
Retinitis Pigmentosa 19	RP19 Retinitis Pigmentosa-19 Retinitis Pigmentosa, Type 19
Retinitis Pigmentosa 23	RP23 Retinitis Pigmentosa-23 Retinitis Pigmentosa, Type 23 Rp23 Gene
Retinitis Pigmentosa 24	RP24 Retinitis Pigmentosa-24
Retinitis Pigmentosa 27	RP27 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type Retinal Degeneration Autosomal Recessive Clumped Pigment Type RDCP Clumped Pigmentary Retinal Degeneration Retinitis Pigmentosa, Type 27
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
Retinitis Pigmentosa 40	RP40 Retinitis Pigmentosa-40 Retinitis Pigmentosa, Type 40
Retinitis Pigmentosa 67	RP67 Retinitis Pigmentosa, Type 67
Night Blindness	Nyctalopia
Cone-Rod Dystrophy 13	CORD13 Dystrophy, Cone-Rod, Type 13
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Retinitis Pigmentosa 35	RP35 Retinitis Pigmentosa-35 Retinitis Pigmentosa, Type 35
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Eye Degenerative Disease
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Cone-Rod Dystrophy 1	CORD1 Crd1 Cone-Rod Retinal Dystrophy-1 Retinitis Pigmentosa 1
Bietti Crystalline Corneoretinal Dystrophy	BCD Bietti Crystalline Dystrophy Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy Bietti Crystalline Retinopathy Bietti'S Crystalline Dystrophy Crystalline Retinopathy Dystrophy, Corneoretinal, Crystalline, Bietti
Retinitis Pigmentosa 85	RP85 Retinitis Pigmentosa, Type 85
Retinitis Pigmentosa 74	RP74 Retinitis Pigmentosa, Type 74
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
Joubert Syndrome 7	JBTS7 Cerebello-Oculo-Renal Syndrome 3 Cors3 Joubert Syndrome, Type 7
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Retinitis Pigmentosa 75	RP75 Retinitis Pigmentosa, Type 75
Retinitis Pigmentosa 25	RP25 Retinitis Pigmentosa-25 Retinitis Pigmentosa, Type 25
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Cone-Rod Dystrophy, X-Linked, 3	CORDX3 X-Linked Cone-Rod Dystrophy 3 Cone-Rod Dystrophy X-Linked 3 Cone-Rod Dystrophy, X-Linked 3 Dystrophy, Cone-Rod, X-Linked, Type 3
Retinitis Pigmentosa 12	RP12 Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium Rp With Or Without Pprpe Retinitis Pigmentosa-12
Retinitis Pigmentosa 17	RP17 Retinitis Pigmentosa-17 Retinitis Pigmentosa, Type 17
Nephronophthisis 12	NPHP12 Joubert Syndrome 11 JBTS11 Nephronophthisis, Type 12
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
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Retinitis Pigmentosa 38	RP38 Rod-Cone Dystrophy, Childhood-Onset Retinitis Pigmentosa, Type 38
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
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
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
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
Occult Macular Dystrophy	OCMD Omd Dystrophy, Macular, Occult
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
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
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
Ciliary Dyskinesia, Primary, 4	Primary Ciliary Dyskinesia 4 CILD4 Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus Primary Ciliary Dyskinesia, 4
Ciliary Dyskinesia, Primary, 8	Primary Ciliary Dyskinesia 8 CILD8 Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Retinitis Pigmentosa 84	RP84 Retinitis Pigmentosa, Type 84
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
Retinitis Pigmentosa 30	RP30 Retinitis Pigmentosa-30 Retinitis Pigmentosa, Type 30
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Immunodeficiency 25	Immunodeficiency Due To Defect In Cd3-Zeta IMD25 Immunodeficiency, Type 25
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Refractive Error	Refractive Errors
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Ciliary Dyskinesia, Primary, 43	CILD43 Primary Ciliary Dyskinesia 43 Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus
Retinitis Pigmentosa 54	RP54 Retinitis Pigmentosa, Type 54
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Vitreous Syneresis	Vitreous Degeneration
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Ciliary Dyskinesia, Primary, 1	CILD1 Pcd Primary Ciliary Dyskinesia 1 Kartagener Syndrome Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Immotile Cilia Syndrome Ics Polynesian Bronchiectasis Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus Ics1 Immotile Cilia Syndrome 1 Primary Ciliary Dyskinesia KTGS Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome Kartagener Type Primary Ciliary Dyskinesia Kartagener Type Siewert Syndrome Immotile Cilia Dyskinesia, Ciliary, Primary, Type 1 Ciliary Motility Disorders
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Cone-Rod Dystrophy 16	Retinitis Pigmentosa 64 Retinal Dystrophy With Early Macular Involvement CORD16 RP64
Achromatopsia 7	ACHM7 Achromatopsia, Type 7
Sensory System Disease
Kartagener Syndrome	Kartagener'S Syndrome
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Nanophthalmos	Nanophthalmia
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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-RS12154	RPGR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RPGR	MGD	MGI:1344037
Rattus norvegicus	RPGR	RGD	RGD:1560136