PRPH2 - peripherin 2 Gene

Also Known as DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5961

About PRPH2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,696,598-42,722,597 (from NCBI)

This gene has 1 transcript (splice variant), 275 orthologues, 32 paralogues and is associated with 17 phenotypes. Broad expression in brain (RPKM 1.8), thyroid (RPKM 1.7) and 21 other tissues.

Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

PRPH2 Products (1)

mRNA	Protein	Name
NM_000322.5	NP_000313.2	peripherin-2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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

PRPH2 Protein Structure

Tetraspannin

0
100
200
300
346 a.a.

Protein Preferred Names	Protein Names
peripherin-2	choroidal dystrophy, central areolar 2

Related Diseases

Diseases	Alias
Macular Dystrophy, Vitelliform, 3	Adult-Onset Vitelliform Macular Dystrophy Avmd Adult-Onset Foveomacular Vitelliform Dystrophy Aofmd VMD3 Vitelliform Macular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset, With Or Without Choroidal Neovascularization Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization Adult-Onset Foveomacular Dystrophy Vitelliform Macular Dystrophy 3 Foveomacular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset Aofmd Macular Dystrophy, Vitelliform, Adult-Onset Adult-Onset Foveomacular Dystrophy With Choroidal Neovascularization Gass Disease Pseudo-Best Disease Pseudo-Vitelliform Macular Dystrophy Gas
Retinitis Pigmentosa 7	Leber Congenital Amaurosis 18 RP7 Retinitis Pigmentosa 7, Digenic Form Retinitis Pigmentosa 7 And Digenic Form Retinitis Pigmentosa 7, Digenic LCA18 Retinitis Pigmentosa 7 Digenic
Macular Dystrophy, Patterned, 1	Patterned Macular Dystrophy 1 MDPT1 Patterned Dystrophy Of Retinal Pigment Epithelium Macular Dystrophy, Butterfly-Shaped Pigmentary Butterfly Dystrophy Of Retinal Pigment Epithelium Butterfly-Shaped Pigmentary Maculary Dystrophy 1 Dystrophy, Macular, Patterned, Type 1
Choroidal Dystrophy, Central Areolar 2	CACD2 Macular Dystrophy, Progressive Dystrophy, Choroidal, Areolar, Central, Type 2
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	Multifocal Pattern Dystrophy Simulating Stargardt Disease
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
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
Pattern Dystrophy	Patterned Dystrophy Of The Retinal Pigment Epithelium
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
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
Butterfly-Shaped Pigment Dystrophy	Butterfly-Shaped Pattern Dystrophy Butterfly-Shaped Pigmentary Macular Dystrophy
Macular Dystrophy, Vitelliform, 2	Best Macular Dystrophy Juvenile-Onset Vitelliform Macular Dystrophy VMD2 Bmd Macular Degeneration, Polymorphic Vitelline Best Vitelliform Macular Dystrophy Best Disease Early-Onset Vitelliform Macular Dystrophy Best Vitelliform Macular Dystrophy, Multifocal Bvmd Polymorphic Vitelline Macular Degeneration Vitelliform Macular Dystrophy Type 2 Vitelliform Macular Dystrophy 2 Vitelliform Macular Dystrophy, Early-Onset Vitelliform Macular Dystrophy, Juvenile-Onset Autosomal Recessive Bestrophinopathy Retinopathy, Burgess-Black Type Best'S Macular Dystrophy Vmd Vitelliform Macular 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
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Isolated Macular Dystrophy
Retinitis
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
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
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
Retinal Degeneration	Degeneration Of Retina
Hereditary Choroidal Atrophy	Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy	Choroidal Dystrophy, Central Areolar
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Ego-Dystonic Sexual Orientation
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	17-Ksr Deficiency Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency Pseudohermaphroditism, Male, With Gynecomastia 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency Testosterone 17-Beta-Dehydrogenase Deficiency 17-Ketosteroid Reductase Deficiency Of Testis 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Ketoreductase Deficiency 17-Ketosteroidreductase Deficiency 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency Male Pseudohermaphroditism With Gynecomastia 17 Alpha Ksr Deficiency 17 Alpha Ketosteroid Reductase Deficiency Of Testis 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency Male Pseudoherma-Phroditism With Gynecomastia Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency Male Pseudohermaphrodism With Gynecomastia MPH 17-Hydroxysteroid Dehydrogenase Deficiency
Toxic Maculopathy	Toxic Maculopathy Of Retina
Occult Macular Dystrophy	OCMD Omd Dystrophy, Macular, Occult
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
Night Blindness	Nyctalopia
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Macular Dystrophy, Patterned, 2	Patterned Macular Dystrophy 2 MDPT2 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Butterfly-Shaped Pigmentary Maculary Dystrophy 2
Newfoundland Rod-Cone Dystrophy	Newfoundland Cone-Rod Dystrophy NFRCD Rod-Cone Dystrophy Newfoundland
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
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
Basal Laminar Drusen	Drusen Of Bruch Membrane Drusen, Cuticular Drusen, Early Adult-Onset, Grouped Cuticular Drusen Early Adult-Onset Grouped Drusen BLD Drusen Cuticular Drusen Early Adult-Onset Grouped
Patterned Macular Dystrophy	Patterned Dystrophy Of Retinal Pigment Epithelium
Eye Degenerative Disease
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
Retinal Cone Dystrophy 4	RCD4 Doid:0081023 Dystrophy, Retinal Cone, Type 4
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Absolute Glaucoma	Blind Hypertensive Eye Glaucoma Absolute
Gender Incongruence	Gender Dysphoria Transsexualism Gender Identify Disorder
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
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
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Retinal Drusen
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
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
Prolonged Electroretinal Response Suppression	Bradyopsia PERRS
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Complete Androgen Insensitivity Syndrome	Cais Complete Androgen Resistance Syndrome Androgen Insensitivity Syndrome Complete Androgen Insensitivity, Complete Androgen-Insensitivity Syndrome Testicular Feminization
Androgen Insensitivity Syndrome	Androgen Resistance Syndrome AIS Testicular Feminization Syndrome Androgen Receptor Deficiency Dhtr Deficiency Dihydrotestosterone Receptor Deficiency Ar Deficiency Testicular Feminization Tfm Androgen Insensitivity Androgen-Insensitivity Syndrome Goldberg-Maxwell Syndrome Complete Androgen Insensitivity Syndrome Cais Feminisation - Testicular Goldberg - Maxwell Syndrome Androgen Insensitivity Syndrome, Complete Morris Syndrome Ary AR Insensitivity Syndrome, Androgen Androgen Insensitivity Nos
Nanophthalmos	Nanophthalmia
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
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
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
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

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-RS11218	PRPH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PRPH2	VGNC	VGNC:45032
Rattus norvegicus	PRPH2	RGD	RGD:3549
Mus musculus	PRPH2	MGD	MGI:102791
Bos taurus	PRPH2	VGNC	VGNC:33385
Macaca mulatta	PRPH2	VGNC	VGNC:104423
Felis catus	PRPH2	VGNC	VGNC:69278
Others	PRPH2	NCBI