ZNF513
geneOn this page
Also known as FLJ32203RP58Zfp513
Summary
ZNF513 (zinc finger protein 513, HGNC:26498) is a protein-coding gene on chromosome 2p23.3, encoding Zinc finger protein 513 (Q8N8E2). Transcriptional regulator that plays a role in retinal development and maintenance.
The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 130557 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinitis pigmentosa 58 (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 4
- Clinical variants (ClinVar): 473 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 37
- MANE Select transcript:
NM_144631
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26498 |
| Approved symbol | ZNF513 |
| Name | zinc finger protein 513 |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32203, RP58, Zfp513 |
| Ensembl gene | ENSG00000163795 |
| Ensembl biotype | protein_coding |
| OMIM | 613598 |
| Entrez | 130557 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000323703, ENST00000407879, ENST00000436006, ENST00000491924, ENST00000917778
RefSeq mRNA: 2 — MANE Select: NM_144631
NM_001201459, NM_144631
CCDS: CCDS1751, CCDS56114
Canonical transcript exons
ENST00000323703 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001078334 | 27378467 | 27379054 |
| ENSE00001333824 | 27380472 | 27380734 |
| ENSE00001549663 | 27377235 | 27378371 |
| ENSE00003641826 | 27380093 | 27380248 |
Expression profiles
Bgee: expression breadth ubiquitous, 222 present calls, max score 90.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8216 / max 50.0734, expressed in 1498 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27493 | 3.8216 | 1498 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 90.87 | gold quality |
| left testis | UBERON:0004533 | 90.54 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.06 | gold quality |
| granulocyte | CL:0000094 | 89.40 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.75 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.72 | gold quality |
| body of stomach | UBERON:0001161 | 88.38 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.36 | gold quality |
| pituitary gland | UBERON:0000007 | 88.28 | gold quality |
| oocyte | CL:0000023 | 87.63 | gold quality |
| transverse colon | UBERON:0001157 | 87.59 | gold quality |
| cortical plate | UBERON:0005343 | 87.31 | gold quality |
| testis | UBERON:0000473 | 87.25 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.15 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 87.13 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.06 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 86.92 | gold quality |
| mucosa of stomach | UBERON:0001199 | 86.82 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.77 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.69 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.61 | gold quality |
| lower esophagus | UBERON:0013473 | 86.60 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 86.51 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.06 | gold quality |
| adrenal cortex | UBERON:0001235 | 86.01 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.99 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.14 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| ARR3 |
miRNA regulators (miRDB)
27 targeting ZNF513, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-331-3P | 98.76 | 64.91 | 793 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-1304-3P | 98.29 | 66.44 | 1207 |
| HSA-MIR-33B-3P | 97.92 | 67.39 | 529 |
| HSA-MIR-515-3P | 97.92 | 67.98 | 506 |
| HSA-MIR-519E-3P | 97.92 | 68.25 | 508 |
| HSA-MIR-7847-3P | 96.63 | 64.58 | 952 |
| HSA-MIR-7160-3P | 96.40 | 64.15 | 462 |
Literature-anchored findings (GeneRIF, showing 2)
- These results suggest that the ZNF513 p.C339R mutation is responsible for retinitis pigmentosa and that ZNF513 plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance. (PMID:20797688)
- Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. (PMID:37752101)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf513a | ENSDARG00000019961 |
| danio_rerio | znf513b | ENSDARG00000101203 |
| mus_musculus | Zfp513 | ENSMUSG00000043059 |
| rattus_norvegicus | Zfp513 | ENSRNOG00000005298 |
| drosophila_melanogaster | dwg | FBGN0000520 |
| drosophila_melanogaster | CG6654 | FBGN0038301 |
| caenorhabditis_elegans | WBGENE00003933 |
Paralogs (6): ZNF324 (ENSG00000083812), ZBTB47 (ENSG00000114853), GTF3A (ENSG00000122034), ZUP1 (ENSG00000153975), ZNF652 (ENSG00000198740), ZNF324B (ENSG00000249471)
Protein
Protein identifiers
Zinc finger protein 513 — Q8N8E2 (reviewed: Q8N8E2)
All UniProt accessions (2): C9JT52, Q8N8E2
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator that plays a role in retinal development and maintenance.
Subunit / interactions. Binds DNA. Can associate with the proximal promoter regions of PAX6 and SP4, and their known targets including ARR3, RHO, OPN1MW2 and OPN1SW.
Subcellular location. Nucleus.
Tissue specificity. In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer.
Disease relevance. Retinitis pigmentosa 58 (RP58) [MIM:613617] 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 krueppel C2H2-type zinc-finger protein family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N8E2-1 | 1 | yes |
| Q8N8E2-2 | 2 | |
| Q8N8E2-3 | 3 |
RefSeq proteins (2): NP_001188388, NP_653232* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (21 total): zinc finger region 8, sequence conflict 3, region of interest 2, compositionally biased region 2, modified residue 2, splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8E2-F1 | 60.20 | 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): 85, 96
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 147 (showing top):
LFA1_Q6, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, SRF_Q5_01, CATRRAGC_UNKNOWN, SRF_C, GGAANCGGAANY_UNKNOWN, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, HEN1_01, GRE_C, LXR_Q3, GOBP_SENSORY_PERCEPTION, VDR_Q3, GOBP_SENSORY_ORGAN_DEVELOPMENT, CCAGGGG_MIR331
GO Biological Process (3): visual perception (GO:0007601), positive regulation of transcription by RNA polymerase II (GO:0045944), retina development in camera-type eye (GO:0060041)
GO Molecular Function (5): transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sensory perception of light stimulus | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
740 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF513 | IMPG2 | Q9BZV3 | 807 |
| ZNF513 | PRCD | Q00LT1 | 806 |
| ZNF513 | PCARE | A6NGG8 | 801 |
| ZNF513 | PDE6G | P18545 | 792 |
| ZNF513 | CERKL | Q49MI3 | 780 |
| ZNF513 | EYS | Q5T1H1 | 761 |
| ZNF513 | FSCN2 | O14926 | 751 |
| ZNF513 | SNRNP200 | O75643 | 749 |
| ZNF513 | IDH3B | O43837 | 749 |
| ZNF513 | PDE6A | P16499 | 746 |
| ZNF513 | PRPF3 | O43395 | 745 |
| ZNF513 | PRPF31 | Q8WWY3 | 742 |
| ZNF513 | CNGB1 | Q14028 | 738 |
| ZNF513 | RP9 | Q8TA86 | 738 |
| ZNF513 | TTC8 | Q8TAM2 | 733 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KAT5 | ZNF513 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF513 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF513 | DNMT3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF513 | UQCRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF513 | RRBP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF513 | ZNF513 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZZZ3 | ZNF513 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZFP64 | ZNF513 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF513 | PPARGC1B | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC11A1 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNMT3A | ZNF513 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): ZNF513 (Two-hybrid), ZNF513 (Two-hybrid), RRBP1 (Proximity Label-MS), ZNF513 (Affinity Capture-MS), ZNF513 (Affinity Capture-RNA), ZNF513 (Two-hybrid), ZNF513 (Two-hybrid), ZNF513 (Two-hybrid), PPARGC1B (Two-hybrid)
ESM2 similar proteins: A2CE44, A6NFI3, A6NM28, A8K8V0, O15370, O70218, O95201, P0CJ78, P10075, P10754, P28698, P70338, Q04890, Q07120, Q14V87, Q19A40, Q569E7, Q58DK7, Q5DWN0, Q5FWU5, Q5RJR4, Q5T619, Q5TEC3, Q6DD87, Q6IQX8, Q6PD29, Q6PGE4, Q6ZMY9, Q7Z7K2, Q80VM4, Q8BIF9, Q8JZL0, Q8N8E2, Q8NAF0, Q8NCA9, Q8TD94, Q8WUU4, Q96C55, Q96H86, Q96MX3
Diamond homologs: Q5FWU5, Q6PD29, Q8N8E2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
473 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 297 |
| Likely benign | 144 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3248931 | NM_144631.6(ZNF513):c.423dup (p.Pro142fs) | Pathogenic |
| 930689 | NM_144631.6(ZNF513):c.279_283del (p.Ala94fs) | Likely pathogenic |
SpliceAI
985 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:27378780:CGAG:C | acceptor_gain | 1.0000 |
| 2:27378781:G:T | acceptor_gain | 1.0000 |
| 2:27378783:G:GC | acceptor_gain | 1.0000 |
| 2:27378792:C:CT | acceptor_gain | 1.0000 |
| 2:27378794:C:CT | acceptor_gain | 1.0000 |
| 2:27380088:CCCA:C | donor_loss | 1.0000 |
| 2:27380089:CCA:C | donor_loss | 1.0000 |
| 2:27380090:CACCT:C | donor_loss | 1.0000 |
| 2:27380091:A:AG | donor_loss | 1.0000 |
| 2:27380091:ACCTT:A | donor_gain | 1.0000 |
| 2:27380092:CCTTC:C | donor_gain | 1.0000 |
| 2:27380095:T:A | donor_gain | 1.0000 |
| 2:27380249:C:CC | acceptor_gain | 1.0000 |
| 2:27380480:C:CA | donor_gain | 1.0000 |
| 2:27380514:T:TA | donor_gain | 1.0000 |
| 2:27378783:G:C | acceptor_gain | 0.9900 |
| 2:27378786:G:C | acceptor_gain | 0.9900 |
| 2:27378786:G:GC | acceptor_gain | 0.9900 |
| 2:27378795:G:T | acceptor_gain | 0.9900 |
| 2:27378799:G:GC | acceptor_gain | 0.9900 |
| 2:27378964:A:C | donor_gain | 0.9900 |
| 2:27379054:CCTGG:C | acceptor_gain | 0.9900 |
| 2:27380091:A:AC | donor_gain | 0.9900 |
| 2:27380092:C:CC | donor_gain | 0.9900 |
| 2:27380092:CCTT:C | donor_gain | 0.9900 |
| 2:27380245:TCCA:T | acceptor_gain | 0.9900 |
| 2:27380246:CCA:C | acceptor_gain | 0.9900 |
| 2:27380246:CCAC:C | acceptor_gain | 0.9900 |
| 2:27380247:CA:C | acceptor_gain | 0.9900 |
| 2:27380247:CAC:C | acceptor_gain | 0.9900 |
AlphaMissense
3493 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:27377703:G:C | H490D | 1.000 |
| 2:27377751:A:G | C474R | 1.000 |
| 2:27377773:G:C | H466Q | 1.000 |
| 2:27377773:G:T | H466Q | 1.000 |
| 2:27377785:G:C | H462Q | 1.000 |
| 2:27377785:G:T | H462Q | 1.000 |
| 2:27377787:G:C | H462D | 1.000 |
| 2:27377787:G:T | H462N | 1.000 |
| 2:27377795:A:G | L459P | 1.000 |
| 2:27377797:G:C | N458K | 1.000 |
| 2:27377797:G:T | N458K | 1.000 |
| 2:27377814:A:G | C453R | 1.000 |
| 2:27377835:A:G | C446R | 1.000 |
| 2:27377839:A:C | F444L | 1.000 |
| 2:27377839:A:T | F444L | 1.000 |
| 2:27377841:A:G | F444L | 1.000 |
| 2:27377871:G:C | H434D | 1.000 |
| 2:27377871:G:T | H434N | 1.000 |
| 2:27377879:A:G | L431P | 1.000 |
| 2:27377881:G:C | N430K | 1.000 |
| 2:27377881:G:T | N430K | 1.000 |
| 2:27377919:A:G | C418R | 1.000 |
| 2:27377955:G:C | H406D | 1.000 |
| 2:27377955:G:T | H406N | 1.000 |
| 2:27377965:G:C | N402K | 1.000 |
| 2:27377965:G:T | N402K | 1.000 |
| 2:27378039:G:C | H378D | 1.000 |
| 2:27377701:G:C | H490Q | 0.999 |
| 2:27377701:G:T | H490Q | 0.999 |
| 2:27377703:G:T | H490N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000337026 (2:27379508 G>A), RS1000959532 (2:27380591 G>A,C), RS1001343740 (2:27378379 G>A,C), RS1002035250 (2:27380549 CGCCTCCG>C), RS1003013705 (2:27379068 CATA>C), RS1003046380 (2:27379281 T>A), RS1003249202 (2:27381072 C>A,G), RS1003497741 (2:27381359 A>G), RS1004503387 (2:27377381 C>G,T), RS1005000807 (2:27381099 C>A,G,T), RS1005858970 (2:27380570 C>T), RS1005911394 (2:27380335 T>G), RS1006911209 (2:27379139 C>T), RS1007269814 (2:27379458 T>C), RS1008917601 (2:27377152 C>G)
Disease associations
OMIM: gene MIM:613598 | disease phenotypes: MIM:613617, MIM:268000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa 58 | Moderate | Autosomal recessive |
| retinitis pigmentosa | Supportive | Autosomal dominant |
Mondo (4): retinitis pigmentosa 58 (MONDO:0013328), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), optic atrophy (MONDO:0003608)
Orphanet (2): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862)
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:0000608 | Macular degeneration |
| HP:0000613 | Photophobia |
| HP:0000618 | Blindness |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000662 | Nyctalopia |
| HP:0000842 | Hyperinsulinemia |
| HP:0001105 | Retinal atrophy |
| HP:0001141 | Severely reduced visual acuity |
| 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 |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_72 | Inflammatory bowel disease | 1.000000e-07 |
| GCST004132_64 | Crohn’s disease | 6.000000e-11 |
| GCST010107_9 | L-selectin levels | 5.000000e-06 |
| GCST010134_1 | Non-oily fish consumption | 9.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008202 | L-Selectin measurement |
| EFO:0008111 | diet measurement |
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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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 |
Related Atlas pages
- Associated diseases: retinitis pigmentosa 58, retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): retinitis pigmentosa, retinitis pigmentosa 58