RBP3

Summary

RBP3 (retinol binding protein 3, HGNC:9921) is a protein-coding gene on chromosome 10q11.22, encoding Retinol-binding protein 3 (P10745). IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively.

Source: NCBI Gene 5949 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa 66 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 1,110 total — 32 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 39
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_002900

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9921
Approved symbol	RBP3
Name	retinol binding protein 3
Location	10q11.22
Locus type	gene with protein product
Status	Approved
Aliases	D10S64, D10S65, D10S66, RP66, IRBP
Ensembl gene	ENSG00000265203
Ensembl biotype	protein_coding
OMIM	180290
Entrez	5949

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000584701

RefSeq mRNA: 1 — MANE Select: NM_002900 NM_002900

CCDS: CCDS73119

Canonical transcript exons

ENST00000584701 — 4 exons

Exon	Start	End
ENSE00002689891	47355376	47355518
ENSE00002703043	47357102	47357881
ENSE00002723135	47353325	47353515
ENSE00002725742	47348363	47351538

Expression profiles

Bgee: expression breadth broad, 38 present calls, max score 88.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2613 / max 898.9785, expressed in 17 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104834	2.2613	17

Top tissues by expression

288 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	88.11	gold quality
pancreatic ductal cell	CL:0002079	72.07	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	66.44	gold quality
pigmented layer of retina	UBERON:0001782	64.19	silver quality
lateral globus pallidus	UBERON:0002476	63.97	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	63.84	gold quality
parotid gland	UBERON:0001831	63.80	gold quality
biceps brachii	UBERON:0001507	63.58	gold quality
medial globus pallidus	UBERON:0002477	63.43	gold quality
vena cava	UBERON:0004087	63.36	gold quality
globus pallidus	UBERON:0001875	63.23	gold quality
secondary oocyte	CL:0000655	63.22	gold quality
triceps brachii	UBERON:0001509	62.95	gold quality
gluteal muscle	UBERON:0002000	62.20	gold quality
buccal mucosa cell	CL:0002336	62.06	gold quality
saphenous vein	UBERON:0007318	61.20	gold quality
mammalian vulva	UBERON:0000997	60.99	gold quality
tendon of biceps brachii	UBERON:0008188	60.93	gold quality
sperm	CL:0000019	60.40	gold quality
trabecular bone tissue	UBERON:0002483	60.35	gold quality
pharyngeal mucosa	UBERON:0000355	60.26	gold quality
inferior vagus X ganglion	UBERON:0005363	60.14	gold quality
mucosa of sigmoid colon	UBERON:0004993	59.80	gold quality
male germ cell	CL:0000015	59.75	gold quality
pericardium	UBERON:0002407	59.59	gold quality
synovial joint	UBERON:0002217	59.38	gold quality
myocardium	UBERON:0002349	59.30	gold quality
decidua	UBERON:0002450	59.28	gold quality
cartilage tissue	UBERON:0002418	59.27	gold quality
parietal pleura	UBERON:0002400	59.26	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	1944.93
E-GEOD-98556	yes	1797.11
E-MTAB-7316	yes	1774.70
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CRX, KLF15, NRL, OTX2, ZNF239, ZNF354C

miRNA regulators (miRDB)

25 targeting RBP3, 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-6867-5P	100.00	82.21	3464
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-496	98.66	69.80	931
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-1255B-2-3P	97.80	67.04	880
HSA-MIR-1306-5P	97.11	64.04	755
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-6802-5P	94.94	65.95	366
HSA-MIR-3914	94.91	65.77	643
HSA-MIR-371B-3P	94.48	66.59	345
HSA-MIR-137-5P	94.03	60.01	43

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 16)

• in Drosophila the alternative TRF1/BRF complex appears responsible for the initiation of all known classes of Pol III transcription (PMID:17170711)
• studies suggest that IRBP and S-Ag can initiate innate and, in sensitive individuals, adaptive immune response by attracting iDCs and T and B cells expressing CXCR3 and CXCR5 (PMID:15713799)
• analysis of IRBP proteolysis is useful as a biomarker for uveitis (PMID:18266969)
• Mutations in RBP3 are an infrequent cause of autosomal recessive retinitis pigmentosa. (PMID:19074801)
• In interphotoreceptor retinoid-binding protein transgenic mice cone dysfunction appears to be caused by abnormal trafficking of cone opsins due to impaired delivery of all-transretinaldehyde chromophore without IRBP. (PMID:19193895)
• Underproduction of IRBP is an early event in the human diabetic retina and is associated with retinal neurodegeneration. (PMID:19823802)
• It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies. (PMID:21067480)
• The mouse retina promotes cone dark adaptation eightfold faster than the retinal pigment epithelium. However, complete cone recovery requires both visual cycles. (PMID:21613504)
• Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). (PMID:23486466)
• We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B. (PMID:23882694)
• CMPK1 and RBP3 are associated with corneal curvature in Asian populations. (PMID:24963161)
• this report is the first to describe the retinal dystrophy in children caused by homozygous nonsense RBP3 mutations, highlighting the requirement for IRBP in normal eye development and visual function. (PMID:25766589)
• Elevated expression of photoreceptor-secreted RBP3 may have a role in protection against the progression of diabetic retinopathy. (PMID:31270273)
• Elevated Retinol Binding Protein 3 Concentrations Are Associated With Decreased Vitreous Inflammatory Cytokines, VEGF, and Progression of Diabetic Retinopathy. (PMID:35852358)
• Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo. (PMID:36901838)
• RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. (PMID:37806543)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbp3	ENSDARG00000059163
mus_musculus	Rbp3	ENSMUSG00000041534
rattus_norvegicus	Rbp3	ENSRNOG00000051911

Protein

Protein identifiers

Retinol-binding protein 3 — P10745 (reviewed: P10745)

Alternative names: Interphotoreceptor retinoid-binding protein, Interstitial retinol-binding protein

All UniProt accessions (1): P10745

UniProt curated annotations — full annotation on UniProt →

Function. IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Interphotoreceptor matrix.

Disease relevance. Retinitis pigmentosa 66 (RP66) [MIM:615233] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the peptidase S41A family.

RefSeq proteins (1): NP_002891* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005151	Tail-specific_protease	Domain
IPR029045	ClpP/crotonase-like_dom_sf	Homologous_superfamily

Pfam: PF03572, PF11918

UniProt features (52 total): sequence variant 41, repeat 4, region of interest 2, glycosylation site 2, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10745-F1	85.10	0.50

Functional residue map

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

Glycosylation sites (2): 205, 515

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-2187335	The retinoid cycle in cones (daylight vision)
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)

MSigDB gene sets: 143 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, HNF3ALPHA_Q6, TGACCTY_ERR1_Q2, CHX10_01, FOXD3_01, SREBP1_02, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, HFH4_01, HFH3_01, GOBP_LIPID_METABOLIC_PROCESS, GOBP_SENSORY_PERCEPTION, GOBP_ISOPRENOID_METABOLIC_PROCESS, HNF3_Q6, GOBP_PROTEOLYSIS

GO Biological Process (4): retinoid metabolic process (GO:0001523), proteolysis (GO:0006508), lipid metabolic process (GO:0006629), visual perception (GO:0007601)

GO Molecular Function (5): retinoid binding (GO:0005501), serine-type peptidase activity (GO:0008236), retinal binding (GO:0016918), retinol binding (GO:0019841), protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cone matrix sheath (GO:0090658), extracellular vesicle (GO:1903561), interphotoreceptor matrix (GO:0033165)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Visual phototransduction	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
retinoid binding	2
vitamin binding	2
cellular anatomical structure	2
diterpenoid metabolic process	1
protein metabolic process	1
primary metabolic process	1
sensory perception of light stimulus	1
isoprenoid binding	1
peptidase activity	1
serine hydrolase activity	1
alcohol binding	1
binding	1
interphotoreceptor matrix	1
extracellular region	1
vesicle	1
extracellular membrane-bounded organelle	1
specialized extracellular matrix	1

Protein interactions and networks

STRING

770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBP3	ZNF239	Q16600	884
RBP3	OPN1SW	P03999	811
RBP3	RHO	P08100	808
RBP3	RBP1	P09455	802
RBP3	SAG	P10523	781
RBP3	ARR3	P36575	769
RBP3	CRX	O43186	754
RBP3	RCVRN	P35243	730
RBP3	RBP2	P50120	724
RBP3	ZNF513	Q8N8E2	689
RBP3	RPE65	Q16518	681
RBP3	RLBP1	P12271	680
RBP3	CRABP1	P29762	674
RBP3	CRABP2	P29373	649
RBP3	RGR	P47804	622

IntAct

46 interactions, top by confidence:

A	B	Type	Score
RBP3	PLSCR4	psi-mi:“MI:0915”(physical association)	0.560
	RBP3	psi-mi:“MI:0915”(physical association)	0.560
RBP3	POU4F2	psi-mi:“MI:0915”(physical association)	0.560
EFEMP2	RBP3	psi-mi:“MI:0915”(physical association)	0.560
RBP3	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
RBP3	NID2	psi-mi:“MI:0915”(physical association)	0.560
RBP3	CREB5	psi-mi:“MI:0915”(physical association)	0.560
HR	RBP3	psi-mi:“MI:0915”(physical association)	0.560
RBP3	SPAG8	psi-mi:“MI:0915”(physical association)	0.560
RBP3	KPRP	psi-mi:“MI:0915”(physical association)	0.560
RBP3	HOXA1	psi-mi:“MI:0915”(physical association)	0.560
RBP3	HSD3B7	psi-mi:“MI:0915”(physical association)	0.560
RBP3	CDC23	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	RBP3	psi-mi:“MI:0915”(physical association)	0.560
ECE1	RBP3	psi-mi:“MI:0915”(physical association)	0.370
RET	PIK3R2	psi-mi:“MI:0914”(association)	0.350
UGT2B7	ACTN4	psi-mi:“MI:0914”(association)	0.350
PLSCR4	RBP3	psi-mi:“MI:0915”(physical association)	0.000
	RBP3	psi-mi:“MI:0915”(physical association)	0.000
SPAG8	RBP3	psi-mi:“MI:0915”(physical association)	0.000
KPRP	RBP3	psi-mi:“MI:0915”(physical association)	0.000
HOXA1	RBP3	psi-mi:“MI:0915”(physical association)	0.000
HSD3B7	RBP3	psi-mi:“MI:0915”(physical association)	0.000
CDC23	RBP3	psi-mi:“MI:0915”(physical association)	0.000
POU4F2	RBP3	psi-mi:“MI:0915”(physical association)	0.000
EFEMP2	RBP3	psi-mi:“MI:0915”(physical association)	0.000
KRTAP10-5	RBP3	psi-mi:“MI:0915”(physical association)	0.000
NID2	RBP3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): RBP3 (Affinity Capture-MS), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid), RBP3 (Two-hybrid)

ESM2 similar proteins: A0A061IR73, A5YM72, A6H603, A6NM43, A6QQ74, A6QR56, D3KCC4, P10745, P12661, P36372, P49194, P51657, P51839, P51840, P52785, P54777, P56201, Q13608, Q149M9, Q1WNP0, Q2KJ24, Q2V057, Q3T1L0, Q3U2A8, Q3ZBE0, Q561R2, Q571I9, Q5JTZ9, Q5ST30, Q5TM74, Q643R3, Q6MG21, Q6NVG1, Q6PAT0, Q6ZPS2, Q767M3, Q86U10, Q8CFX1, Q8IZ83, Q8K248

Diamond homologs: P10745, P12661, P12662, P12663, P12664, P49194, Q7SZI7, P12666

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
KLF15	“down-regulates quantity by repression”	RBP3	“transcriptional regulation”
NRL	“down-regulates quantity by repression”	RBP3	“transcriptional regulation”
CRX	“down-regulates quantity by repression”	RBP3	“transcriptional regulation”
OTX2	“up-regulates quantity by expression”	RBP3	“transcriptional regulation”
CRX	“up-regulates quantity by expression”	RBP3	“transcriptional regulation”
ZNF239	“down-regulates quantity by repression”	RBP3	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

1110 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	32
Likely pathogenic	8
Uncertain significance	654
Likely benign	333
Benign	12

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069188	NM_002900.3(RBP3):c.2074G>T (p.Glu692Ter)	Pathogenic
1069291	NM_002900.3(RBP3):c.2824C>T (p.Gln942Ter)	Pathogenic
1069455	NM_002900.3(RBP3):c.2434_2437del (p.Val812fs)	Pathogenic
1071789	NM_002900.3(RBP3):c.3320del (p.Leu1107fs)	Pathogenic
1074901	NM_002900.3(RBP3):c.1279del (p.Asp427fs)	Pathogenic
1377498	NM_002900.3(RBP3):c.901del (p.Val301fs)	Pathogenic
1402243	NM_002900.3(RBP3):c.2086del (p.Asp696fs)	Pathogenic
1409560	NM_002900.3(RBP3):c.1405C>T (p.Gln469Ter)	Pathogenic
1422064	NM_002900.3(RBP3):c.529del (p.Val177fs)	Pathogenic
1426812	NM_002900.3(RBP3):c.2575_2584del (p.Met859fs)	Pathogenic
1458100	NC_000010.10:g.(?48382532)(48388342_?)del	Pathogenic
1915170	NM_002900.3(RBP3):c.421C>T (p.Gln141Ter)	Pathogenic
2001031	NM_002900.3(RBP3):c.2352C>A (p.Tyr784Ter)	Pathogenic
2010302	NM_002900.3(RBP3):c.2502C>A (p.Tyr834Ter)	Pathogenic
2042957	NM_002900.3(RBP3):c.2866G>T (p.Glu956Ter)	Pathogenic
2088257	NM_002900.3(RBP3):c.1683G>A (p.Trp561Ter)	Pathogenic
2830862	NM_002900.3(RBP3):c.705del (p.Arg236fs)	Pathogenic
2879082	NM_002900.3(RBP3):c.304del (p.Val102fs)	Pathogenic
2981714	NM_002900.3(RBP3):c.2905C>T (p.Gln969Ter)	Pathogenic
3249602	NM_002900.3(RBP3):c.633G>A (p.Trp211Ter)	Pathogenic
3672980	NM_002900.3(RBP3):c.2646C>G (p.Tyr882Ter)	Pathogenic
50368	NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)	Pathogenic
812388	NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter)	Pathogenic
813083	NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys)	Pathogenic
813084	NM_002900.3(RBP3):c.467G>C (p.Trp156Ser)	Pathogenic
832124	NC_000010.10:g.(?48370533)(48390877_?)del	Pathogenic
844372	NM_002900.3(RBP3):c.1394G>A (p.Trp465Ter)	Pathogenic
862735	NM_002900.3(RBP3):c.802A>T (p.Lys268Ter)	Pathogenic
938453	NM_002900.3(RBP3):c.445G>T (p.Glu149Ter)	Pathogenic
960676	NM_002900.3(RBP3):c.288del (p.Glu97fs)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

8062 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:47350108:A:C	S542R	0.987
10:47350110:C:A	S542R	0.987
10:47350110:C:G	S542R	0.987
10:47349913:G:C	D477H	0.986
10:47350003:T:C	F507L	0.984
10:47350005:C:A	F507L	0.984
10:47350005:C:G	F507L	0.984
10:47355382:C:A	N1084K	0.981
10:47355382:C:G	N1084K	0.981
10:47349927:C:A	N481K	0.980
10:47349927:C:G	N481K	0.980
10:47350109:G:T	S542I	0.980
10:47350541:T:C	L686P	0.980
10:47350322:C:A	P613H	0.978
10:47353418:T:C	F1050L	0.978
10:47353420:T:A	F1050L	0.978
10:47353420:T:G	F1050L	0.978
10:47350134:G:C	E550D	0.977
10:47350134:G:T	E550D	0.977
10:47348735:A:G	D84G	0.976
10:47349310:T:C	F276L	0.976
10:47349311:T:C	F276S	0.976
10:47349312:C:A	F276L	0.976
10:47349312:C:G	F276L	0.976
10:47350300:T:A	W606R	0.976
10:47350300:T:C	W606R	0.976
10:47350553:T:C	L690P	0.976
10:47353508:G:C	D1080H	0.975
10:47350144:T:C	F554L	0.974
10:47350146:C:A	F554L	0.974

dbSNP variants (sampled 300 via entrez): RS1000629863 (10:47354989 A>C), RS1000650575 (10:47354665 C>G,T), RS1001113134 (10:47349757 C>G), RS1001707713 (10:47352987 A>G), RS1002475535 (10:47347437 C>G,T), RS1003112251 (10:47351870 C>T), RS1004709897 (10:47352324 C>T), RS1005812261 (10:47357611 C>T), RS1006014243 (10:47346542 T>A), RS1007816427 (10:47354442 C>T), RS1008715971 (10:47348398 G>A), RS1009211876 (10:47354591 C>A,T), RS1009232621 (10:47352903 C>G,T), RS1009282399 (10:47354185 A>C), RS1010184852 (10:47353251 C>A,T)

Disease associations

OMIM: gene MIM:180290 | disease phenotypes: MIM:615233, MIM:268000, MIM:143890, MIM:310500, MIM:120970

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 66	Strong	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant

Mondo (7): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 66 (MONDO:0014093), retinitis pigmentosa (MONDO:0019200), optic atrophy (MONDO:0003608), hypercholesterolemia, familial, 1 (MONDO:0007750), congenital stationary night blindness (MONDO:0016293), cone-rod dystrophy (MONDO:0015993)

Orphanet (5): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Homozygous familial hypercholesterolemia (Orphanet:391665), Congenital stationary night blindness (Orphanet:215), Cone rod dystrophy (Orphanet:1872)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000603	Central scotoma
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0001419	X-linked recessive inheritance
HP:0003581	Adult onset
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002502_2	Corneal curvature	1.000000e-13
GCST006976_33	Macular thickness	2.000000e-18

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004345	corneal topography

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
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: other protein — Fatty acid-binding proteins

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	decreases degradation	1
abrine	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Malathion	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

259 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
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
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
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
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline 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
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
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
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
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
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
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
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)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	PHASE1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	PHASE1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa