PCARE

Summary

PCARE (photoreceptor cilium actin regulator, HGNC:34383) is a protein-coding gene on chromosome 2p23.2, encoding Photoreceptor cilium actin regulator (A6NGG8). Plays an essential role for normal photoreceptor cell maintenance and vision.

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.

Source: NCBI Gene 388939 — RefSeq curated summary.

At a glance

• Gene–disease (curated): PCARE-related retinopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 1,137 total — 115 pathogenic, 24 likely-pathogenic
• Phenotypes (HPO): 34
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001029883

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34383
Approved symbol	PCARE
Name	photoreceptor cilium actin regulator
Location	2p23.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34931, RP54
Ensembl gene	ENSG00000179270
Ensembl biotype	protein_coding
OMIM	613425
Entrez	388939

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000331664, ENST00000602958

RefSeq mRNA: 1 — MANE Select: NM_001029883 NM_001029883

CCDS: CCDS42669

Canonical transcript exons

ENST00000331664 — 2 exons

Exon	Start	End
ENSE00001304877	29070594	29074523
ENSE00001326783	29061695	29065067

Expression profiles

Bgee: expression breadth broad, 78 present calls, max score 86.59.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2010 / max 120.8113, expressed in 15 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27576	0.0780	10
27578	0.0487	9
27575	0.0471	11
27577	0.0272	7

Top tissues by expression

213 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	86.59	gold quality
apex of heart	UBERON:0002098	58.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	55.12	gold quality
pigmented layer of retina	UBERON:0001782	54.08	silver quality
heart left ventricle	UBERON:0002084	53.98	gold quality
cardiac ventricle	UBERON:0002082	53.51	gold quality
endothelial cell	CL:0000115	52.82	gold quality
right atrium auricular region	UBERON:0006631	52.49	gold quality
cardiac atrium	UBERON:0002081	52.17	gold quality
heart	UBERON:0000948	50.08	gold quality
deltoid	UBERON:0001476	48.99	gold quality
adult mammalian kidney	UBERON:0000082	48.75	gold quality
prefrontal cortex	UBERON:0000451	48.38	gold quality
islet of Langerhans	UBERON:0000006	48.25	gold quality
gastrocnemius	UBERON:0001388	47.90	gold quality
muscle of leg	UBERON:0001383	47.31	gold quality
skeletal muscle tissue	UBERON:0001134	46.49	gold quality
lateral globus pallidus	UBERON:0002476	46.13	gold quality
bone marrow cell	CL:0002092	46.00	gold quality
muscle tissue	UBERON:0002385	45.34	gold quality
colonic epithelium	UBERON:0000397	44.84	gold quality
tibial nerve	UBERON:0001323	44.65	gold quality
anterior cingulate cortex	UBERON:0009835	44.40	gold quality
kidney	UBERON:0002113	44.28	gold quality
frontal cortex	UBERON:0001870	44.11	silver quality
neocortex	UBERON:0001950	43.93	silver quality
left ovary	UBERON:0002119	43.86	gold quality
ovary	UBERON:0000992	43.66	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
caudate nucleus	UBERON:0001873	43.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting PCARE, 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-12118	100.00	65.88	1270
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 8)

• Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa. (PMID:20398884)
• Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported. (PMID:20398886)
• C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection. (PMID:20811058)
• Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort. (PMID:21412943)
• A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa. (PMID:24780881)
• We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. (PMID:27029556)
• On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations. (PMID:28763557)
• Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility. (PMID:36396885)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pcare2	ENSDARG00000095802
danio_rerio		ENSDARG00000102288
mus_musculus	Pcare	ENSMUSG00000044375
rattus_norvegicus	Pcare	ENSRNOG00000008942

Protein

Protein identifiers

Photoreceptor cilium actin regulator — A6NGG8 (reviewed: A6NGG8)

All UniProt accessions (1): A6NGG8

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role for normal photoreceptor cell maintenance and vision.

Subcellular location. Cell projection. Cilium. Photoreceptor outer segment. Photoreceptor inner segment.

Tissue specificity. Specifically expressed in retina.

Disease relevance. Retinitis pigmentosa 54 (RP54) [MIM:613428] 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. Cone-rod dystrophy 23 (CORD23) [MIM:613428] An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease may be caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_001025054* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029352	PCARE	Family

Pfam: PF15449

UniProt features (61 total): sequence variant 31, compositionally biased region 15, region of interest 9, lipid moiety-binding region 2, helix 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7LXF	X-RAY DIFFRACTION	1.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGG8-F1	44.15	0.00

Functional residue map

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

Post-translational modifications (2): 2, 3

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 104 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_NEUROGENESIS, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT, AAAGACA_MIR511, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, GOCC_PHOTORECEPTOR_INNER_SEGMENT, GOCC_CILIUM, GOCC_PHOTORECEPTOR_OUTER_SEGMENT

GO Biological Process (3): visual perception (GO:0007601), photoreceptor cell outer segment organization (GO:0035845), protein localization to photoreceptor outer segment (GO:1903546)

GO Molecular Function (0):

GO Cellular Component (5): photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), cilium (GO:0005929), cone photoreceptor outer segment (GO:0120199), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
sensory perception of light stimulus	1
cellular component organization	1
photoreceptor cell development	1
protein localization to non-motile cilium	1
photoreceptor cell cilium	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
photoreceptor outer segment	1

Protein interactions and networks

STRING

464 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCARE	EYS	Q5T1H1	841
PCARE	IMPG2	Q9BZV3	840
PCARE	PRCD	Q00LT1	832
PCARE	CERKL	Q49MI3	805
PCARE	ZNF513	Q8N8E2	801
PCARE	RDH12	Q96NR8	783
PCARE	PDE6A	P16499	781
PCARE	PDE6G	P18545	779
PCARE	TULP1	O00294	778
PCARE	CNGB1	Q14028	776
PCARE	CNGA1	P29973	774
PCARE	FSCN2	O14926	760
PCARE	PRPF31	Q8WWY3	749
PCARE	ABCA4	P78363	749
PCARE	RPGR	Q92834	748

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PCARE	ARPC3	psi-mi:“MI:0914”(association)	0.510
ARPC3	PCARE	psi-mi:“MI:0915”(physical association)	0.000
VASP	PCARE	psi-mi:“MI:0915”(physical association)	0.000
UFM1	PCARE	psi-mi:“MI:0915”(physical association)	0.000
DCAF7	PCARE	psi-mi:“MI:0915”(physical association)	0.000
PITRM1	PCARE	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): C2orf71 (Affinity Capture-MS), C2orf71 (Affinity Capture-MS), C2orf71 (Affinity Capture-MS), C2orf71 (Affinity Capture-MS), C2orf71 (Affinity Capture-MS), C2orf71 (Affinity Capture-MS), C2orf71 (Reconstituted Complex), HMGN4 (Cross-Linking-MS (XL-MS)), HSPA1A (Cross-Linking-MS (XL-MS)), C2orf71 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A6NGG8, Q6PAC4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1137 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	115
Likely pathogenic	24
Uncertain significance	586
Likely benign	277
Benign	50

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
101	NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter)	Pathogenic
103	NM_001029883.3(PCARE):c.947del (p.Asn316fs)	Pathogenic
104	NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)	Pathogenic
1049580	NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)	Pathogenic
105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	Pathogenic
1069982	NM_001029883.3(PCARE):c.3183del (p.Glu1062fs)	Pathogenic
1070134	NM_001029883.3(PCARE):c.3388_3389del (p.Leu1130fs)	Pathogenic
1071669	NM_001029883.3(PCARE):c.1180G>T (p.Gly394Ter)	Pathogenic
1073099	NM_001029883.3(PCARE):c.1516C>T (p.Gln506Ter)	Pathogenic
1073517	NM_001029883.3(PCARE):c.1841_1848del (p.Arg614fs)	Pathogenic
1074451	NM_001029883.3(PCARE):c.1273C>T (p.Arg425Ter)	Pathogenic
1076818	NM_001029883.3(PCARE):c.391G>T (p.Gly131Ter)	Pathogenic
1184960	NM_001029883.3(PCARE):c.2966dup (p.Val990fs)	Pathogenic
1184961	NM_001029883.3(PCARE):c.2966del (p.Pro989fs)	Pathogenic
1350516	NM_001029883.3(PCARE):c.3541_3542del (p.Leu1181fs)	Pathogenic
1390950	NM_001029883.3(PCARE):c.1174C>T (p.Gln392Ter)	Pathogenic
1397241	NM_001029883.3(PCARE):c.458del (p.Thr153fs)	Pathogenic
1408996	NM_001029883.3(PCARE):c.3139C>T (p.Arg1047Ter)	Pathogenic
1414211	NM_001029883.3(PCARE):c.2994del (p.Thr999fs)	Pathogenic
1415689	NM_001029883.3(PCARE):c.1113G>A (p.Trp371Ter)	Pathogenic
1421165	NM_001029883.3(PCARE):c.2780del (p.Pro927fs)	Pathogenic
1421257	NM_001029883.3(PCARE):c.2330del (p.Leu777fs)	Pathogenic
1424127	NM_001029883.3(PCARE):c.983_984del (p.Leu328fs)	Pathogenic
143088	NM_001029883.3(PCARE):c.2988dup (p.Thr997fs)	Pathogenic
1440090	NM_001029883.3(PCARE):c.2654_2655dup (p.Val886fs)	Pathogenic
1442573	NM_001029883.3(PCARE):c.3149dup (p.Pro1051fs)	Pathogenic
1446693	NM_001029883.3(PCARE):c.1220del (p.Gly407fs)	Pathogenic
1451549	NM_001029883.3(PCARE):c.2906_2915dup (p.Ser973fs)	Pathogenic
1453214	NM_001029883.3(PCARE):c.1333dup (p.Ser445fs)	Pathogenic
1453727	NM_001029883.3(PCARE):c.2666dup (p.Asp890fs)	Pathogenic

SpliceAI

292 predictions. Top by Δscore:

Variant	Effect	Δscore
2:29065065:CTG:C	acceptor_gain	1.0000
2:29065068:C:CC	acceptor_gain	1.0000
2:29065063:TGCTG:T	acceptor_gain	0.9900
2:29065066:TG:T	acceptor_gain	0.9900
2:29065072:C:CT	acceptor_gain	0.9900
2:29065072:C:T	acceptor_gain	0.9900
2:29065073:G:T	acceptor_gain	0.9900
2:29065064:GCTG:G	acceptor_loss	0.9800
2:29065068:CTGC:C	acceptor_loss	0.9800
2:29070588:CCTTA:C	donor_loss	0.9500
2:29070589:CTTAC:C	donor_loss	0.9500
2:29070590:TTACC:T	donor_loss	0.9500
2:29070591:TACC:T	donor_loss	0.9500
2:29070592:A:T	donor_loss	0.9500
2:29070593:C:CG	donor_loss	0.9500
2:29068444:A:C	acceptor_gain	0.9400
2:29068356:A:C	donor_gain	0.9300
2:29065060:CGCTG:C	acceptor_gain	0.8900
2:29065062:CTG:C	acceptor_gain	0.8600
2:29071146:AGCAC:A	donor_gain	0.8500
2:29065064:GCTGC:G	acceptor_gain	0.7900
2:29070772:T:TA	donor_gain	0.7800
2:29065067:GCTGC:G	acceptor_gain	0.7600
2:29065068:CTGCC:C	acceptor_gain	0.7600
2:29065065:CTGCT:C	acceptor_gain	0.7300
2:29064879:T:TA	donor_gain	0.7000
2:29068442:CTA:C	acceptor_gain	0.7000
2:29068443:TAT:T	acceptor_gain	0.7000
2:29066686:A:AC	donor_gain	0.6900
2:29066687:C:CC	donor_gain	0.6900

AlphaMissense

8439 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:29072600:A:C	F554L	0.992
2:29072600:A:T	F554L	0.992
2:29072602:A:G	F554L	0.992
2:29072048:G:C	F738L	0.980
2:29072048:G:T	F738L	0.980
2:29072050:A:G	F738L	0.980
2:29072607:A:G	I552T	0.978
2:29073212:A:C	S350R	0.970
2:29073212:A:T	S350R	0.970
2:29073214:T:G	S350R	0.970
2:29072627:C:A	K545N	0.961
2:29072627:C:G	K545N	0.961
2:29072615:G:C	S549R	0.956
2:29072615:G:T	S549R	0.956
2:29072617:T:G	S549R	0.956
2:29073734:G:C	F176L	0.950
2:29073734:G:T	F176L	0.950
2:29073736:A:G	F176L	0.950
2:29072607:A:C	I552S	0.949
2:29072601:A:G	F554S	0.937
2:29072061:A:G	L734P	0.935
2:29072070:A:T	V731D	0.935
2:29072601:A:C	F554C	0.932
2:29072619:A:G	I548T	0.932
2:29073735:A:G	F176S	0.932
2:29073712:G:C	H184D	0.930
2:29074258:C:G	G2R	0.929
2:29074258:C:T	G2R	0.929
2:29072058:A:T	I735N	0.928
2:29072633:C:A	K543N	0.927

dbSNP variants (sampled 300 via entrez): RS1000646011 (2:29070766 T>A), RS1000666735 (2:29064771 G>A,C,T), RS1001015065 (2:29066703 A>G), RS1001118952 (2:29075420 T>C), RS1001296482 (2:29074392 T>C,G), RS1001442827 (2:29069827 T>C), RS1001635243 (2:29074757 T>A), RS1001747831 (2:29074656 T>A,C), RS1001959497 (2:29065332 C>G), RS1002049933 (2:29067762 C>G,T), RS1002280124 (2:29072790 T>A,C), RS1002307414 (2:29065085 A>C), RS1002336708 (2:29062414 C>A), RS1002703366 (2:29075731 G>A,C,T), RS1002848166 (2:29071999 C>A,T)

Disease associations

OMIM: gene MIM:613425 | disease phenotypes: MIM:613428, MIM:248200, MIM:268000, MIM:120970

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 54	Definitive	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
PCARE-related retinopathy	Definitive	AR

Mondo (8): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 54 (MONDO:0013263), Stargardt disease (MONDO:0019353), retinitis pigmentosa (MONDO:0019200), retinal disorder (MONDO:0005283), optic atrophy (MONDO:0003608), cone-rod dystrophy (MONDO:0015993), PCARE-related retinopathy (MONDO:0800404)

Orphanet (4): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Stargardt disease (Orphanet:827), Cone rod dystrophy (Orphanet:1872)

HPO phenotypes

34 total (30 of 34 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:0001099	Atrophic fundus lesion
HP:0001105	Retinal atrophy
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:0011505	Cystoid macular edema
HP:0012426	Optic disc drusen

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000578_4	Major depressive disorder	2.000000e-06
GCST004747_19	Lung cancer in never smokers	3.000000e-06

MeSH disease descriptors (6)

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
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
D000080362	Stargardt Disease	C11.270.872; C11.768.585.439.339; C16.320.290.724

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
epigallocatechin gallate	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases expression	1
Copper	affects cotreatment, decreases expression	1
Triclosan	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

295 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
NCT03772665	PHASE3	COMPLETED	Safety and Efficacy of Emixustat in Stargardt Disease
NCT05244304	PHASE3	COMPLETED	Phase 3, Randomized, Placebo-Controlled Study of Tinlarebant to Explore Safety and Efficacy in Adolescent Stargardt Disease
NCT07419334	PHASE3	RECRUITING	Study of ALK-001 on the Progression of Stargardt Disease
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