Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5995
Gene name Gene Name - the full gene name approved by the HGNC.
Retinal G protein coupled receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RGR
Synonyms (NCBI Gene) Gene synonyms aliases
RP44
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP44
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894187 A>C Pathogenic, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
rs1554824273 ->G Pathogenic 3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs1589337745 A>- Likely-pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT540292 hsa-miR-424-3p HITS-CLIP 23706177
MIRT540291 hsa-miR-3133 HITS-CLIP 23706177
MIRT540290 hsa-miR-186-5p HITS-CLIP 23706177
MIRT540289 hsa-miR-5683 HITS-CLIP 23706177
MIRT540287 hsa-miR-7151-5p HITS-CLIP 23706177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IBA 21873635
GO:0004930 Function G protein-coupled receptor activity TAS 8641686
GO:0005515 Function Protein binding IPI 16189514
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0007186 Process G protein-coupled receptor signaling pathway IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600342 9990 ENSG00000148604
Protein
UniProt ID P47804
Protein name RPE-retinal G protein-coupled receptor
Protein function Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 33 215 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed at high levels in the retinal pigment epithelium (RPE) and Mueller cells of the neural retina.
Sequence
Sequence length 291
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    G alpha (i) signalling events
Opsins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hearing loss Conductive hearing loss, Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa 44 GenCC
Hyperopia Hyperopia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 38299232
Carcinoma Squamous Cell Associate 38299232
Color Vision Defects Associate 20454696
Cone Rod Dystrophies Associate 30347075
Hypertensive Retinopathy Associate 30347075
Neoplasms Stimulate 38299232
Peripapillary Atrophy Beta Type Associate 27011730
Retinal Drusen Associate 19450444
Retinal Dystrophies Associate 20454696
Retinitis Pigmentosa Associate 27011730