GPR179

Summary

GPR179 (G protein-coupled receptor 179, HGNC:31371) is a protein-coding gene on chromosome 17q12, encoding Probable G-protein coupled receptor 179 (Q6PRD1). Orphan receptor involved in vision.

This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E.

Source: NCBI Gene 440435 — RefSeq curated summary.

At a glance

• Gene–disease (curated): GPR179-related retinopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 1,525 total — 29 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 7
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001004334

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31371
Approved symbol	GPR179
Name	G protein-coupled receptor 179
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	CSNB1E
Ensembl gene	ENSG00000277399
Ensembl biotype	protein_coding
OMIM	614515
Entrez	440435

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 1 retained_intron, 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000610867, ENST00000616987, ENST00000622573

RefSeq mRNA: 1 — MANE Select: NM_001004334 NM_001004334

CCDS: CCDS42308

Canonical transcript exons

ENST00000610650 — 0 exons

Expression profiles

Bgee: expression breadth broad, 73 present calls, max score 79.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0185 / max 3.8135, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165495	0.0185	9

Top tissues by expression

105 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.65	gold quality
prefrontal cortex	UBERON:0000451	69.02	gold quality
superior frontal gyrus	UBERON:0002661	67.93	gold quality
frontal cortex	UBERON:0001870	65.47	gold quality
sural nerve	UBERON:0015488	64.25	gold quality
cortical plate	UBERON:0005343	63.87	gold quality
primary visual cortex	UBERON:0002436	63.70	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.73	gold quality
cerebral cortex	UBERON:0000956	60.72	gold quality
skeletal muscle tissue	UBERON:0001134	60.66	gold quality
hypothalamus	UBERON:0001898	60.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	60.23	gold quality
right frontal lobe	UBERON:0002810	60.12	gold quality
nucleus accumbens	UBERON:0001882	60.07	gold quality
cerebellum	UBERON:0002037	59.87	gold quality
cerebellar cortex	UBERON:0002129	59.76	gold quality
cerebellar hemisphere	UBERON:0002245	59.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	59.39	gold quality
right hemisphere of cerebellum	UBERON:0014890	59.38	gold quality
anterior cingulate cortex	UBERON:0009835	58.18	gold quality
caudate nucleus	UBERON:0001873	57.07	gold quality
brain	UBERON:0000955	56.95	gold quality
bone marrow cell	CL:0002092	55.55	gold quality
gastrocnemius	UBERON:0001388	54.76	gold quality
muscle of leg	UBERON:0001383	54.75	gold quality
muscle tissue	UBERON:0002385	54.48	gold quality
putamen	UBERON:0001874	54.13	gold quality
ventricular zone	UBERON:0003053	53.23	gold quality
ganglionic eminence	UBERON:0004023	52.91	silver quality
colonic epithelium	UBERON:0000397	52.65	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting GPR179, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-1183	98.75	67.10	1116
HSA-MIR-198	98.70	67.32	920
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179. (PMID:22325361)
• We found 1 mutation in GPR179 in congenital stationary night blindness. (PMID:23714322)
• In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. (PMID:27428514)
• Authors identify that major components of the extracellular matrix proteins present in the synaptic cleft-members of the heparan sulfate proteoglycan (HSPG) family-associate with the GPR158/179 group of orphan receptors. (PMID:30282023)
• Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179. (PMID:37490546)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpr179	ENSDARG00000102310
mus_musculus	Gpr179	ENSMUSG00000070337
rattus_norvegicus	Gpr179	ENSRNOG00000085920

Paralogs (1): GPR158 (ENSG00000151025)

Protein

Protein identifiers

Probable G-protein coupled receptor 179 — Q6PRD1 (reviewed: Q6PRD1)

Alternative names: Probable G-protein coupled receptor 158-like 1

All UniProt accessions (1): A0A087X0K8

UniProt curated annotations — full annotation on UniProt →

Function. Orphan receptor involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. Acts as an atypical G-protein coupled receptor that recruits and regulates the R7 group RGS-GNB5 complexes instead of activating G proteins: promotes the GTPase activator activity of R7 RGS proteins, increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Associates with components of metabotropic signaling cascade in retina ON-bipolar neurons, such as TRPM1 and GRM6: may control the ability of the GRM6 cascade to gate TRPM1.

Subunit / interactions. Homodimer. Associates with the R7 group RGS-GNB5 complexes, composed of an R7 group RGS subunit (RGS6, RGS7, RGS9 or RGS11) and GNB5, promoting their localization to the cell membrane and regulating the GTPase activator activity of R7 RGS proteins. Interacts with TRPM1. Interacts with GRM6. Interacts with EGFLAM; transsynaptic interaction is required for synaptic organization of photoreceptor cells.

Subcellular location. Cell membrane. Postsynaptic cell membrane. Cell projection. Dendrite.

Tissue specificity. Expressed in the retina.

Disease relevance. Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565] An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the G-protein coupled receptor 3 family.

RefSeq proteins (1): NP_001004334* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR017978	GPCR_3_C	Domain
IPR043458	GPR158/179	Family
IPR054714	GPR158_179_extracellular	Domain

Pfam: PF00003, PF22572

UniProt features (88 total): compositionally biased region 16, helix 16, region of interest 13, strand 12, topological domain 8, sequence variant 8, transmembrane region 7, glycosylation site 2, disulfide bond 2, turn 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8IRJ	ELECTRON MICROSCOPY	3.49
8D1B	ELECTRON MICROSCOPY	3.57

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PRD1-F1	43.22	0.05

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (2): 76–236, 445–537

Glycosylation sites (2): 75, 298

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOCC_POSTSYNAPTIC_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_SOMATODENDRITIC_COMPARTMENT, GOCC_SYNAPTIC_MEMBRANE, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, CHEN_METABOLIC_SYNDROM_NETWORK, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (5): visual perception (GO:0007601), protein localization to plasma membrane (GO:0072659), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), response to light stimulus (GO:0009416)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), protein-membrane adaptor activity (GO:0043495)

GO Cellular Component (9): dendrite (GO:0030425), dendrite terminus (GO:0044292), postsynaptic membrane (GO:0045211), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005), synapse (GO:0045202), cell tip (GO:0051286)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
sensory perception of light stimulus	1
protein localization to membrane	1
protein localization to cell periphery	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
response to radiation	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
protein-macromolecule adaptor activity	1
neuron projection	1
dendritic tree	1
dendrite	1
synaptic membrane	1
postsynapse	1
membrane	1
cell periphery	1
plasma membrane bounded cell projection	1
cell junction	1
cell pole	1

Protein interactions and networks

STRING

933 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPR179	NYX	Q9GZU5	819
GPR179	LRIT3	Q3SXY7	774
GPR179	GRM6	O15303	713
GPR179	CABP4	P57796	695
GPR179	TRPM1	Q7Z4N2	680
GPR179	RGS7	P49802	661
GPR179	RGS11	O94810	657
GPR179	EGFLAM	Q63HQ2	628
GPR179	CACNA1F	O60840	604
GPR179	SLC24A1	O60721	571
GPR179	GNAT1	P11488	507
GPR179	GNB5	O14775	489
GPR179	PDE6B	P35913	479
GPR179	RGS9BP	Q6ZS82	477
GPR179	CACNA2D4	Q7Z3S7	474

IntAct

21 interactions, top by confidence:

A	B	Type	Score
GPR179	Egflam	psi-mi:“MI:0915”(physical association)	0.560
GPR179	EGFLAM	psi-mi:“MI:0915”(physical association)	0.460
GPR179	EGFLAM	psi-mi:“MI:0403”(colocalization)	0.460
GPR179	HIST2H2BF	psi-mi:“MI:0915”(physical association)	0.400
GPR179	GPC5	psi-mi:“MI:0915”(physical association)	0.400
GPR179	GPC1	psi-mi:“MI:0915”(physical association)	0.400
GPR179	SDC4	psi-mi:“MI:0915”(physical association)	0.400
Egflam	Gpr179	psi-mi:“MI:2364”(proximity)	0.380
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
CTBP1	TAF15	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): GPR179 (Affinity Capture-MS), GPR179 (Proximity Label-MS), GPR179 (Proximity Label-MS), GPR179 (Positive Genetic), GPR179 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RR11, A0A0U1RRI6, A2APT9, A6NCS6, A6NJG2, B0BN44, D3YXK1, E9PY61, E9Q0B3, O00220, O00221, P09038, P0DPI3, P22083, P98077, Q08AU9, Q29RM6, Q2M2W7, Q2M3V2, Q2TBI2, Q5F267, Q5FW56, Q5IS69, Q5R866, Q5T4W7, Q5TM52, Q5U4P2, Q5VTJ3, Q659K9, Q69ZB3, Q6AYE8, Q6PJ61, Q6PRD1, Q7TSX9, Q7YR31, Q80SU3, Q86SH2, Q86Y97, Q8NBR0, Q8NCU7

Diamond homologs: D4A6L0, E1BBQ2, E9PY61, Q54L53, Q5T848, Q6PRD1, Q8C419

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1525 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	29
Likely pathogenic	11
Uncertain significance	887
Likely benign	426
Benign	60

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1389797	NM_001004334.4(GPR179):c.839_842del (p.Asn280fs)	Pathogenic
1451130	NM_001004334.4(GPR179):c.857del (p.Pro286fs)	Pathogenic
1452621	NM_001004334.4(GPR179):c.724C>T (p.Arg242Ter)	Pathogenic
1454474	NM_001004334.4(GPR179):c.1368del (p.Phe456fs)	Pathogenic
1705299	NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)	Pathogenic
2054441	NM_001004334.4(GPR179):c.416del (p.Glu139fs)	Pathogenic
2085819	NM_001004334.4(GPR179):c.1250del (p.Val417fs)	Pathogenic
2087291	NM_001004334.4(GPR179):c.9del (p.Arg4fs)	Pathogenic
2102665	NM_001004334.4(GPR179):c.357dup (p.Glu120Ter)	Pathogenic
2104695	NM_001004334.4(GPR179):c.416dup (p.Asp141fs)	Pathogenic
2113803	NM_001004334.4(GPR179):c.166del (p.Ala56fs)	Pathogenic
2693218	NM_001004334.4(GPR179):c.1706C>A (p.Ser569Ter)	Pathogenic
2815606	NM_001004334.4(GPR179):c.1005del (p.Ser335fs)	Pathogenic
2827026	NM_001004334.4(GPR179):c.1835_1836insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCTCCTCCTCTTCTT (p.Phe613_His614insPhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTerPhe)	Pathogenic
286422	NM_001004334.4(GPR179):c.647dup (p.Ala217fs)	Pathogenic
2865751	NM_001004334.4(GPR179):c.280dup (p.Ser94fs)	Pathogenic
2876153	NM_001004334.4(GPR179):c.595A>T (p.Lys199Ter)	Pathogenic
287851	NM_001004334.4(GPR179):c.673C>T (p.Gln225Ter)	Pathogenic
3023225	NM_001004334.4(GPR179):c.1000del (p.Glu334fs)	Pathogenic
31200	NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)	Pathogenic
31201	NM_001004334.4(GPR179):c.278del (p.Pro93fs)	Pathogenic
31202	NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)	Pathogenic
31203	NM_001004334.4(GPR179):c.1784+1G>A	Pathogenic
31205	NM_001004334.4(GPR179):c.187del (p.Leu63fs)	Pathogenic
3604920	NM_001004334.4(GPR179):c.268_269delinsTA (p.Gly90Ter)	Pathogenic
3688188	NM_001004334.4(GPR179):c.1874dup (p.Ile626fs)	Pathogenic
441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	Pathogenic
598120	NM_001004334.4(GPR179):c.1543C>T (p.Arg515Ter)	Pathogenic
599074	NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)	Pathogenic
1324509	NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)	Likely pathogenic

SpliceAI

1756 predictions. Top by Δscore:

Variant	Effect	Δscore
17:38331541:A:T	acceptor_gain	1.0000
17:38333408:C:CT	acceptor_gain	1.0000
17:38333927:CCTCA:C	donor_loss	1.0000
17:38333929:TCACC:T	donor_loss	1.0000
17:38333930:CA:C	donor_loss	1.0000
17:38333932:C:CA	donor_loss	1.0000
17:38334034:CAAAC:C	acceptor_gain	1.0000
17:38334036:AACC:A	acceptor_loss	1.0000
17:38334038:CCT:C	acceptor_loss	1.0000
17:38334039:CTG:C	acceptor_loss	1.0000
17:38334040:T:A	acceptor_loss	1.0000
17:38334698:CCTCA:C	donor_loss	1.0000
17:38334699:CTCA:C	donor_loss	1.0000
17:38334700:TCA:T	donor_loss	1.0000
17:38334701:CACCT:C	donor_loss	1.0000
17:38334703:C:A	donor_loss	1.0000
17:38334703:CCTGG:C	donor_gain	1.0000
17:38334838:CTCAG:C	acceptor_gain	1.0000
17:38334839:TCAG:T	acceptor_gain	1.0000
17:38334840:CAG:C	acceptor_gain	1.0000
17:38334840:CAGC:C	acceptor_gain	1.0000
17:38334841:AG:A	acceptor_gain	1.0000
17:38334842:GC:G	acceptor_loss	1.0000
17:38334843:C:CA	acceptor_loss	1.0000
17:38334843:C:CC	acceptor_gain	1.0000
17:38334845:G:C	acceptor_gain	1.0000
17:38335027:GCTCA:G	donor_loss	1.0000
17:38335028:CTCA:C	donor_loss	1.0000
17:38335029:TCA:T	donor_loss	1.0000
17:38335032:C:CG	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000236362 (17:38324401 C>T), RS1000250967 (17:38330813 C>A,T), RS1000397992 (17:38341261 C>A,T), RS1000654914 (17:38342373 G>A), RS1000754765 (17:38334354 C>T), RS1001096567 (17:38330445 C>A,T), RS1001212972 (17:38331648 T>A), RS1001414877 (17:38342659 A>C), RS1001434028 (17:38337531 C>T), RS1001463975 (17:38342240 T>C), RS1002215478 (17:38333016 G>A), RS1002420487 (17:38343925 G>A,T), RS1002551398 (17:38345159 C>G,T), RS1002765417 (17:38337480 C>G,T), RS1003110214 (17:38333070 T>C)

Disease associations

OMIM: gene MIM:614515 | disease phenotypes: MIM:614565, MIM:310500, MIM:268000, MIM:257270

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital stationary night blindness 1E	Definitive	Autosomal recessive
congenital stationary night blindness	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
GPR179-related retinopathy	Definitive	AR

Mondo (7): congenital stationary night blindness 1E (MONDO:0013807), inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608), congenital stationary night blindness (MONDO:0016293), retinitis pigmentosa (MONDO:0019200), congenital stationary night blindness 1B (MONDO:0009758), retinal disorder (MONDO:0005283)

Orphanet (3): Congenital stationary night blindness (Orphanet:215), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

7 total (8 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000639	Nystagmus
HP:0007642	Early-onset non-progressive night blindness
HP:0007663	Reduced visual acuity
HP:0011003	High myopia
HP:0000556	Retinal dystrophy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001941_16	Ovarian cancer	8.000000e-10

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C536122	Night blindness, congenital stationary (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: gpcr — Class C Orphans

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases mutagenesis	3
aristolochic acid I	increases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	increases expression	1
Malathion	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

266 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
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NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
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NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
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NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)