REEP6

Summary

REEP6 (receptor accessory protein 6, HGNC:30078) is a protein-coding gene on chromosome 19p13.3, encoding Receptor expression-enhancing protein 6 (Q96HR9). Required for correct function and survival of retinal photoreceptors.

The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77.

Source: NCBI Gene 92840 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited retinal dystrophy (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 261 total — 20 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 37
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_138393

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30078
Approved symbol	REEP6
Name	receptor accessory protein 6
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	DP1L1, FLJ25383, Yip2f, TB1
Ensembl gene	ENSG00000115255
Ensembl biotype	protein_coding
OMIM	609346
Entrez	92840

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000233596, ENST00000395479, ENST00000395484, ENST00000591735, ENST00000858071, ENST00000858072, ENST00000858073, ENST00000858074, ENST00000947289

RefSeq mRNA: 2 — MANE Select: NM_138393 NM_001329556, NM_138393

CCDS: CCDS12070, CCDS92481

Canonical transcript exons

ENST00000233596 — 5 exons

Exon	Start	End
ENSE00002810671	1495469	1495607
ENSE00002899542	1496285	1496453
ENSE00003582808	1495294	1495387
ENSE00003911905	1491181	1491384
ENSE00003913806	1497174	1497927

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9055 / max 535.4379, expressed in 1411 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172977	13.3814	1269
172979	0.6139	245
172975	0.5970	280
172976	0.1667	37
172978	0.1465	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.60	gold quality
left testis	UBERON:0004533	99.59	gold quality
right lobe of liver	UBERON:0001114	99.02	gold quality
testis	UBERON:0000473	97.86	gold quality
right adrenal gland cortex	UBERON:0035827	97.68	gold quality
right adrenal gland	UBERON:0001233	97.61	gold quality
ileal mucosa	UBERON:0000331	97.37	gold quality
left adrenal gland	UBERON:0001234	97.34	gold quality
left adrenal gland cortex	UBERON:0035825	97.30	gold quality
liver	UBERON:0002107	97.07	gold quality
jejunal mucosa	UBERON:0000399	97.03	gold quality
sperm	CL:0000019	96.02	gold quality
adrenal cortex	UBERON:0001235	95.39	gold quality
duodenum	UBERON:0002114	93.95	gold quality
adrenal gland	UBERON:0002369	93.92	gold quality
adult organism	UBERON:0007023	91.91	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.88	gold quality
small intestine	UBERON:0002108	89.90	gold quality
body of pancreas	UBERON:0001150	88.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.11	gold quality
adrenal tissue	UBERON:0018303	86.77	gold quality
putamen	UBERON:0001874	86.27	gold quality
caudate nucleus	UBERON:0001873	85.49	gold quality
right frontal lobe	UBERON:0002810	85.48	gold quality
nucleus accumbens	UBERON:0001882	84.88	gold quality
anterior cingulate cortex	UBERON:0009835	84.76	gold quality
corpus epididymis	UBERON:0004359	83.91	gold quality
amygdala	UBERON:0001876	83.41	gold quality
esophagus mucosa	UBERON:0002469	83.27	gold quality
lower esophagus mucosa	UBERON:0035834	83.20	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	535.40
E-MTAB-7316	yes	57.92
E-GEOD-134144	yes	35.50
E-MTAB-9388	yes	12.72
E-GEOD-137537	no	666.84
E-GEOD-99795	no	155.43
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting REEP6, 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-4713-3P	100.00	65.92	505
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-6815-5P	96.05	65.55	662
HSA-MIR-6865-5P	96.05	65.58	675
HSA-MIR-604	93.13	64.42	299

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 5)

• DP1L1 polymorphisms are associated with colon cancer and IBD. This indicates that DP1L1 plays a functional role in these conditions. Thus DP1L1 may be a diagnostic and therapeutic target for colon cancer and IBD. (PMID:19924442)
• study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy (PMID:27889058)
• Depletion of receptor accessory proteins REEP5 and REEP6 causes a decrease in CXC Chemokine Receptor 1 (CXCR1) signaling. (PMID:27966653)
• This report is not only the first description of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. (PMID:31538292)
• Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population. (PMID:33917198)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	reep6	ENSDARG00000087349
rattus_norvegicus	Reep6	ENSRNOG00000033262
drosophila_melanogaster	Reepl1	FBGN0030313
caenorhabditis_elegans		WBGENE00011401
caenorhabditis_elegans		WBGENE00012180
caenorhabditis_elegans		WBGENE00018930
caenorhabditis_elegans	yop-1	WBGENE00022127

Paralogs (5): REEP1 (ENSG00000068615), REEP5 (ENSG00000129625), REEP2 (ENSG00000132563), REEP3 (ENSG00000165476), REEP4 (ENSG00000168476)

Protein

Protein identifiers

Receptor expression-enhancing protein 6 — Q96HR9 (reviewed: Q96HR9)

Alternative names: Polyposis locus protein 1-like 1

All UniProt accessions (3): A0A1L5BXV2, A8MXN1, Q96HR9

UniProt curated annotations — full annotation on UniProt →

Function. Required for correct function and survival of retinal photoreceptors. Required for retinal development. In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis. May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane.

Subunit / interactions. Interacts with STX3. Interacts with clathrin.

Subcellular location. Endoplasmic reticulum membrane. Cytoplasmic vesicle. Clathrin-coated vesicle membrane.

Tissue specificity. Expressed in circumvallate papillae and testis. Expressed in the retina. Isoform 1 is predominantly present in mature optic cups. Isoform 1 expression is confined to the cell body and inner segment of developing rod photoreceptor cells.

Disease relevance. Retinitis pigmentosa 77 (RP77) [MIM:617304] A form of retinitis pigmentosa, 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. RP77 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the DP1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96HR9-1	1	yes
Q96HR9-2	2

RefSeq proteins (2): NP_001316485, NP_612402* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004345	TB2_DP1_HVA22	Family

Pfam: PF03134

UniProt features (12 total): sequence variant 5, transmembrane region 2, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HR9-F1	73.80	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 179 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, CAGCTG_AP4_Q5, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, TGCTGAY_UNKNOWN, GOCC_COATED_VESICLE, GOBP_RESPONSE_TO_RADIATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOZGIT_ESR1_TARGETS_UP, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GUO_HEX_TARGETS_DN, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS

GO Biological Process (3): endoplasmic reticulum organization (GO:0007029), detection of light stimulus involved in visual perception (GO:0050908), regulation of intracellular transport (GO:0032386)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): acrosomal vesicle (GO:0001669), photoreceptor inner segment (GO:0001917), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), clathrin-coated vesicle membrane (GO:0030665), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
cytoplasm	2
organelle organization	1
endomembrane system organization	1
visual perception	1
detection of light stimulus involved in sensory perception	1
intracellular transport	1
regulation of transport	1
regulation of cellular localization	1
binding	1
secretory granule	1
endomembrane system	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
clathrin-coated vesicle	1
coated vesicle membrane	1
intracellular vesicle	1

Protein interactions and networks

STRING

1242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
REEP6	RP1L1	Q8IWN7	577
REEP6	STX3	Q13277	547
REEP6	NXNL1	Q96CM4	533
REEP6	ROM1	Q03395	528
REEP6	OR56A5	P0C7T3	522
REEP6	NR2E3	Q9Y5X4	483
REEP6	PDE6B	P35913	472
REEP6	ATL3	Q6DD88	468
REEP6	ANKRD33B	A6NCL7	467
REEP6	ATL1	Q8WXF7	467
REEP6	PRPH2	P23942	464
REEP6	ARR3	P36575	462
REEP6	SIRAL2	Q9NWS6	460
REEP6	LETM2	Q2VYF4	446
REEP6	NXNL2	Q5VZ03	444

IntAct

158 interactions, top by confidence:

A	B	Type	Score
COQ8A	REEP6	psi-mi:“MI:0915”(physical association)	0.780
REEP6	LITAF	psi-mi:“MI:0915”(physical association)	0.780
REEP6	COQ8A	psi-mi:“MI:0915”(physical association)	0.780
LITAF	REEP6	psi-mi:“MI:0915”(physical association)	0.780
REEP6	SNX15	psi-mi:“MI:0915”(physical association)	0.740
SNX15	REEP6	psi-mi:“MI:0915”(physical association)	0.740
IL2RG	REEP6	psi-mi:“MI:0914”(association)	0.710
IL2RG	REEP6	psi-mi:“MI:0915”(physical association)	0.710
REEP6	SNX1	psi-mi:“MI:0915”(physical association)	0.670
FHIP1B	REEP6	psi-mi:“MI:0915”(physical association)	0.670
REEP6	SPG21	psi-mi:“MI:0915”(physical association)	0.670
SNX1	REEP6	psi-mi:“MI:0915”(physical association)	0.670
REEP6	FHIP1B	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (173): REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Two-hybrid), REEP6 (Affinity Capture-MS), REEP6 (Affinity Capture-MS)

ESM2 similar proteins: A1L134, B1AUE5, O43292, O60683, O60831, O75908, O75915, O77759, O89109, O95870, P0C8N6, P70295, Q1RMQ3, Q2HJ63, Q2KHX3, Q3ZC71, Q4R4I9, Q4R4R4, Q4R7X9, Q56P28, Q5E9M1, Q5R4X8, Q5R8B1, Q5RBY7, Q5RJQ8, Q5SYH2, Q5XI60, Q5ZL36, Q66K66, Q78S06, Q803C7, Q8CB65, Q8HXW8, Q8NF37, Q8R5J9, Q8VEC4, Q92535, Q96HR9, Q9CXR4, Q9D1E5

Diamond homologs: A0A509ADH4, B2RZ37, P0CN16, P0CN17, Q00765, Q07764, Q10010, Q12402, Q29RM3, Q2KI30, Q32LG5, Q3ZCI8, Q4KMI4, Q4P0H0, Q4QQW1, Q4WTW3, Q51VY4, Q5BB01, Q5BL63, Q5HZP8, Q5R598, Q5RE33, Q5XI60, Q60870, Q66IF1, Q682H0, Q6AZM3, Q6BWH8, Q6CE07, Q6CP93, Q6FMU3, Q6NLY8, Q6NUK4, Q6PBX9, Q75A56, Q7ZVX5, Q871R7, Q8BGH4, Q8K072, Q8LE10

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	20
Likely pathogenic	7
Uncertain significance	108
Likely benign	96
Benign	17

Top pathogenic / likely-pathogenic (27)

Variant ID	HGVS	Classification
1073441	NC_000019.9:g.(?1496264)(1496472_?)del	Pathogenic
1074996	NM_138393.4(REEP6):c.481C>T (p.Arg161Ter)	Pathogenic
1076871	NM_138393.4(REEP6):c.499dup (p.Ala167fs)	Pathogenic
1213893	NM_138393.4(REEP6):c.349-1G>A	Pathogenic
1275816	NM_138393.4(REEP6):c.255G>A (p.Trp85Ter)	Pathogenic
1397844	NM_138393.4(REEP6):c.127_128del (p.Leu43fs)	Pathogenic
1410359	NC_000019.9:g.(?1495273)(1497210_?)del	Pathogenic
1449104	NM_138393.4(REEP6):c.138_139del (p.Tyr47fs)	Pathogenic
1454664	NM_001329556.3(REEP6):c.527_528insG (p.Leu177fs)	Pathogenic
1459663	NC_000019.9:g.(?1491269)(1497210_?)del	Pathogenic
2036257	NM_138393.4(REEP6):c.195C>G (p.Tyr65Ter)	Pathogenic
2745329	NM_138393.4(REEP6):c.408T>A (p.Tyr136Ter)	Pathogenic
3249048	NM_138393.4(REEP6):c.414_415del (p.Val139fs)	Pathogenic
374991	NM_001329556.3(REEP6):c.557dup (p.Val187fs)	Pathogenic
374992	NM_138393.4(REEP6):c.383C>T (p.Pro128Leu)	Pathogenic
375312	NM_138393.4(REEP6):c.448del (p.Ala150fs)	Pathogenic
3776019	NM_001329556.3(REEP6):c.518-2A>T	Pathogenic
4292703	NM_138393.4(REEP6):c.280_281del (p.Leu94fs)	Pathogenic
936156	NM_138393.4(REEP6):c.210-2A>G	Pathogenic
978972	NM_138393.4(REEP6):c.267G>A (p.Trp89Ter)	Pathogenic
1067550	NM_138393.4(REEP6):c.209+1G>A	Likely pathogenic
3338286	NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)	Likely pathogenic
374989	NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)	Likely pathogenic
4771134	NM_138393.4(REEP6):c.517+1G>A	Likely pathogenic
958464	NM_138393.4(REEP6):c.349-1G>T	Likely pathogenic
966122	NM_138393.4(REEP6):c.348+2T>G	Likely pathogenic
966630	NM_001329556.3(REEP6):c.518-1G>C	Likely pathogenic

SpliceAI

850 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1495383:GCCTC:G	donor_gain	1.0000
19:1495388:G:GG	donor_gain	1.0000
19:1495464:TGCA:T	acceptor_loss	1.0000
19:1495465:GCAGA:G	acceptor_loss	1.0000
19:1495466:CA:C	acceptor_loss	1.0000
19:1495467:A:AG	acceptor_gain	1.0000
19:1495467:A:AT	acceptor_loss	1.0000
19:1495468:G:GT	acceptor_gain	1.0000
19:1495468:GA:G	acceptor_gain	1.0000
19:1495468:GAATC:G	acceptor_gain	1.0000
19:1496306:AT:A	acceptor_gain	1.0000
19:1496307:T:G	acceptor_gain	1.0000
19:1496449:G:GT	donor_gain	1.0000
19:1496450:A:T	donor_gain	1.0000
19:1497172:A:AG	acceptor_gain	1.0000
19:1497173:G:GA	acceptor_gain	1.0000
19:1491380:TGCAG:T	donor_loss	0.9900
19:1491382:CAGG:C	donor_loss	0.9900
19:1491383:AGGT:A	donor_loss	0.9900
19:1491384:GGTGA:G	donor_loss	0.9900
19:1491385:G:A	donor_loss	0.9900
19:1491386:T:A	donor_loss	0.9900
19:1495386:TC:T	donor_gain	0.9900
19:1495468:GAA:G	acceptor_gain	0.9900
19:1495468:GAAT:G	acceptor_gain	0.9900
19:1495529:G:GA	donor_gain	0.9900
19:1495604:C:T	donor_gain	0.9900
19:1495605:AAG:A	donor_loss	0.9900
19:1496279:CTGCA:C	acceptor_loss	0.9900
19:1496280:TGCA:T	acceptor_loss	0.9900

AlphaMissense

1181 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1495607:G:C	K116N	0.993
19:1495607:G:T	K116N	0.993
19:1495476:G:C	A73P	0.992
19:1495516:T:C	L86P	0.990
19:1495311:A:C	S45R	0.989
19:1495313:C:A	S45R	0.989
19:1495313:C:G	S45R	0.989
19:1495386:T:C	S70P	0.988
19:1495363:G:A	G62E	0.983
19:1495378:C:A	A67E	0.983
19:1496285:T:C	C117R	0.982
19:1495524:T:A	W89R	0.980
19:1495524:T:C	W89R	0.980
19:1495512:T:A	W85R	0.979
19:1495512:T:C	W85R	0.979
19:1496303:T:C	C123R	0.979
19:1495371:T:G	Y65D	0.978
19:1495375:C:A	P66H	0.977
19:1495563:A:C	S102R	0.977
19:1495565:C:A	S102R	0.977
19:1495565:C:G	S102R	0.977
19:1495516:T:A	L86H	0.975
19:1495526:G:C	W89C	0.975
19:1495526:G:T	W89C	0.975
19:1495480:T:A	I74N	0.973
19:1495521:T:G	Y88D	0.973
19:1495365:T:C	F63L	0.971
19:1495367:T:A	F63L	0.971
19:1495367:T:G	F63L	0.971
19:1495380:T:G	Y68D	0.970

dbSNP variants (sampled 300 via entrez): RS1000398622 (19:1498076 C>A,T), RS1000564210 (19:1489588 T>C), RS1000906048 (19:1496825 G>T), RS1000962379 (19:1492752 C>T), RS1001013395 (19:1492959 A>G), RS1001348060 (19:1491841 C>T), RS1001558808 (19:1490522 G>A), RS1001647964 (19:1496163 G>A,C,T), RS1002708288 (19:1497833 G>A), RS1002973039 (19:1490852 C>T), RS1003121721 (19:1491150 A>G,T), RS1003305507 (19:1494456 C>T), RS1003308346 (19:1489937 C>A,T), RS1003361021 (19:1490168 T>C), RS1003661195 (19:1494323 C>G)

Disease associations

OMIM: gene MIM:609346 | disease phenotypes: MIM:617304, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa	Definitive	Autosomal recessive
retinitis pigmentosa 77	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
inherited retinal dystrophy	Definitive	AR

Mondo (4): retinitis pigmentosa 77 (MONDO:0015013), optic atrophy (MONDO:0003608), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200)

Orphanet (2): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPO	Term
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: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:0003621	Juvenile 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
HP:0007994	Peripheral visual field loss
HP:0008046	Abnormal retinal vascular morphology
HP:0011463	Childhood onset

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

56 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	5
Cyclosporine	decreases expression, decreases methylation	3
Aflatoxin B1	affects expression, decreases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects expression	1
trichostatin A	decreases expression	1
sulforaphane	decreases expression	1
9,10-dihydro-9,10-dihydroxybenzo(a)pyrene	decreases expression	1
perfluorooctanoic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases 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
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