RGR - retinal G protein coupled receptor Gene

Also Known as RP44

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5995

About RGR

Cytogenetic location: 10q23.1 Genomic coordinates (GRCh38): 10:84,245,053-84,259,960 (from NCBI)

This gene has 18 transcripts (splice variants), 196 orthologues, 23 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 4.9) and testis (RPKM 0.4).

Summary

This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like Other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

RGR Products (3)

mRNA Protein Name
NM_001012720.2 NP_001012738.1 RPE-retinal G protein-coupled receptor isoform 2
NM_001012722.2 NP_001012740.1 RPE-retinal G protein-coupled receptor isoform 3
NM_002921.4 NP_002912.2 RPE-retinal G protein-coupled receptor isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 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

RGR Protein Structure

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (34 - 212)

  • 0
  • 100
  • 200
  • 295 a.a.
Protein Preferred Names Protein Names

RPE-retinal G protein-coupled receptor

  • RGR-opsin

RGR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RGR P47804 KIFBP Homo sapiens Q96EK5 16189514
Intra
RGR P47804 KIFBP Homo sapiens Q96EK5 16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinitis Pigmentosa 44
  • RP44

  • Retinitis Pigmentosa, Type 44

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

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Bothnia Retinal Dystrophy
  • Vasterbotten Dystrophy

  • BRD

  • Dystrophy, Retinal, Bothnia

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 Albipunctatus
  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa

Microphthalmia, Syndromic 9
  • Matthew-Wood Syndrome

  • Spear Syndrome

  • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

  • Microphthalmia, Isolated, With Coloboma 8

  • MCOPS9

  • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

  • Pdac

  • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

  • Pmd

  • Syndromic Microphthalmia 9

  • Anophthalmia-Pulmonary Hypoplasia Syndrome

  • Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

  • Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

  • Microphthalmia Syndromic 9

  • Matthew Wood Syndrome

  • Pdac Syndrome

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

  • Microphthalmia, Isolated, With Coloboma, 8

  • MCOPCB8

  • Isolated Colobomatous Microphthalmia 8

  • Microphthalmia, Syndromic, 9

  • Anophthalmia With Pulmonary Hypoplasia

  • Microphthalmia Syndromic, Type 9

  • Anophthalmia And Pulmonary Hypoplasia

Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

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

Cone Dystrophy
  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3

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

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

Orthologs Information

Species Symbol Source ID
Mus musculus RGR MGD MGI:1929473
Macaca mulatta RGR VGNC VGNC:76913
Rattus norvegicus RGR RGD RGD:1309174
Canis familiaris RGR VGNC VGNC:45518
Bos taurus RGR VGNC VGNC:33909
Felis catus RGR VGNC VGNC:69309
Others RGR NCBI