RP9
geneOn this page
Also known as PAP-1
Summary
RP9 (RP9 pre-mRNA splicing factor, HGNC:10288) is a protein-coding gene on chromosome 7p14.3, encoding Retinitis pigmentosa 9 protein (Q8TA86). Is thought to be a target protein for the PIM1 kinase.
The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene.
Source: NCBI Gene 6100 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinitis pigmentosa 9 (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 129 total — 1 likely-pathogenic
- Phenotypes (HPO): 38
- MANE Select transcript:
NM_203288
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10288 |
| Approved symbol | RP9 |
| Name | RP9 pre-mRNA splicing factor |
| Location | 7p14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PAP-1 |
| Ensembl gene | ENSG00000164610 |
| Ensembl biotype | protein_coding |
| OMIM | 607331 |
| Entrez | 6100 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000297157, ENST00000448915, ENST00000474370, ENST00000492391, ENST00000682645, ENST00000683432, ENST00000684207
RefSeq mRNA: 1 — MANE Select: NM_203288
NM_203288
CCDS: CCDS5440
Canonical transcript exons
ENST00000297157 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001085942 | 33097271 | 33097362 |
| ENSE00001180952 | 33109221 | 33109404 |
| ENSE00001271164 | 33094797 | 33095432 |
| ENSE00001653044 | 33099307 | 33099436 |
| ENSE00001710380 | 33096493 | 33096554 |
| ENSE00003519355 | 33100531 | 33100561 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 95.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3416 / max 124.2666, expressed in 1778 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83518 | 10.2216 | 1778 |
| 83517 | 0.1201 | 25 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 95.85 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.81 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.17 | gold quality |
| secondary oocyte | CL:0000655 | 91.96 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.37 | gold quality |
| apex of heart | UBERON:0002098 | 90.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.47 | gold quality |
| muscle of leg | UBERON:0001383 | 90.34 | gold quality |
| body of tongue | UBERON:0011876 | 90.26 | gold quality |
| pylorus | UBERON:0001166 | 89.77 | gold quality |
| sural nerve | UBERON:0015488 | 89.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.62 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 89.48 | gold quality |
| cardiac ventricle | UBERON:0002082 | 89.47 | gold quality |
| quadriceps femoris | UBERON:0001377 | 89.16 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.16 | gold quality |
| muscle tissue | UBERON:0002385 | 89.00 | gold quality |
| tongue | UBERON:0001723 | 88.94 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.83 | gold quality |
| cardia of stomach | UBERON:0001162 | 88.80 | gold quality |
| cardiac atrium | UBERON:0002081 | 88.52 | gold quality |
| deltoid | UBERON:0001476 | 88.50 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.38 | gold quality |
| thymus | UBERON:0002370 | 88.35 | gold quality |
| superior surface of tongue | UBERON:0007371 | 88.32 | gold quality |
| heart | UBERON:0000948 | 88.28 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 88.07 | silver quality |
| spleen | UBERON:0002106 | 87.85 | gold quality |
| body of pancreas | UBERON:0001150 | 87.80 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.78 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting RP9, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-5587-5P | 99.07 | 68.58 | 838 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-7114-3P | 98.42 | 66.53 | 569 |
| HSA-MIR-1233-5P | 98.19 | 66.71 | 1201 |
| HSA-MIR-6778-5P | 98.19 | 66.59 | 1239 |
| HSA-MIR-1180-5P | 98.16 | 65.32 | 460 |
| HSA-MIR-556-5P | 97.75 | 66.17 | 473 |
| HSA-MIR-6747-3P | 97.73 | 64.84 | 1596 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-212-5P | 96.83 | 67.43 | 950 |
| HSA-MIR-3189-3P | 96.80 | 66.34 | 896 |
| HSA-MIR-7973 | 96.48 | 65.54 | 502 |
Literature-anchored findings (GeneRIF, showing 4)
- Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa (PMID:12032732)
- Has a role in pre-mRNA splicing, further evidence that PAP-1 is indeed the RP9 gene. (PMID:15474994)
- PAP-1 interacted with Prp3p but not Prp31p in human cells and yeast, and the basic region of PAP-1 and the C-terminal region of Prp3p, regions beside spots found in retinitis pigmentosa mutations, were needed for binding (PMID:15541726)
- CIR was found to be colocalized with PAP-1 in nuclear speckles. (PMID:15652350)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rp9 | ENSMUSG00000032239 |
| rattus_norvegicus | Rp9 | ENSRNOG00000029456 |
Protein
Protein identifiers
Retinitis pigmentosa 9 protein — Q8TA86 (reviewed: Q8TA86)
Alternative names: Pim-1-associated protein
All UniProt accessions (5): A0A090N8Z0, A0A804HI79, A0A804HL29, C9J6V2, Q8TA86
UniProt curated annotations — full annotation on UniProt →
Function. Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1.
Subunit / interactions. Binds to PIM1. Binds to ZNHIT4.
Subcellular location. Nucleus.
Tissue specificity. Appears to be expressed in a wide range of tissues.
Disease relevance. Retinitis pigmentosa 9 (RP9) [MIM:180104] 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.
RefSeq proteins (1): NP_976033* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR034585 | PAP-1 | Family |
UniProt features (16 total): compositionally biased region 5, sequence variant 3, region of interest 3, modified residue 2, chain 1, zinc finger region 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TA86-F1 | 78.99 | 0.23 |
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 (3): 212, 214, 129
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 149 (showing top):
GOBP_COGNITION, INGRAM_SHH_TARGETS_UP, GOBP_RNA_SPLICING, GOCC_ROUGH_ENDOPLASMIC_RETICULUM, GOCC_ROUGH_ENDOPLASMIC_RETICULUM_MEMBRANE, ZHENG_BOUND_BY_FOXP3, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, VECCHI_GASTRIC_CANCER_EARLY_UP, BRUINS_UVC_RESPONSE_LATE, SUPT16H_TARGET_GENES, ZNF618_TARGET_GENES, MIR1253, GSE11864_UNTREATED_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP
GO Biological Process (2): RNA splicing (GO:0008380), cognition (GO:0050890)
GO Molecular Function (4): RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), signal recognition particle receptor complex (GO:0005785)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 1 |
| nervous system process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| rough endoplasmic reticulum membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
Protein interactions and networks
STRING
652 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RP9 | PRPF31 | Q8WWY3 | 897 |
| RP9 | PRPF3 | O43395 | 891 |
| RP9 | PRPF8 | Q6P2Q9 | 862 |
| RP9 | FSCN2 | O14926 | 849 |
| RP9 | SNRNP200 | O75643 | 831 |
| RP9 | PRPH2 | P23942 | 825 |
| RP9 | IMPDH1 | P20839 | 809 |
| RP9 | TOPORS | Q9NS56 | 792 |
| RP9 | CERKL | Q49MI3 | 778 |
| RP9 | KLHL7 | Q8IXQ5 | 760 |
| RP9 | GUCA1B | Q9UMX6 | 745 |
| RP9 | ROM1 | Q03395 | 744 |
| RP9 | RPGR | Q92834 | 744 |
| RP9 | EYS | Q5T1H1 | 740 |
| RP9 | PCARE | A6NGG8 | 739 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAPN1 | CAPNS1 | psi-mi:“MI:0914”(association) | 0.840 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| SUMO1 | CBX4 | psi-mi:“MI:0914”(association) | 0.600 |
| SREK1IP1 | RP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDCBP | RP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKAPD1 | RP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGF12 | RP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RP9 | MMTAG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BYSL | RP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP1M1 | RP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP54 | DYRK1A | psi-mi:“MI:0914”(association) | 0.550 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| SRSF1 | RP9 | psi-mi:“MI:0403”(colocalization) | 0.450 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PPP2CA | DKFZP586J0619 | psi-mi:“MI:0914”(association) | 0.350 |
| OFD1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK1 | TAF4 | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP6 | HSPB1 | psi-mi:“MI:0914”(association) | 0.350 |
| LCK | UQCRQ | psi-mi:“MI:0914”(association) | 0.350 |
| FYN | MRPS12 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| POC5 | PDHX | psi-mi:“MI:0914”(association) | 0.350 |
| RP9 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| JPH3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (113): RP9 (Affinity Capture-MS), RP9 (Affinity Capture-MS), RP9 (Affinity Capture-MS), RP9 (Affinity Capture-MS), RP9 (Affinity Capture-MS), RP9 (Two-hybrid), U2AF1 (Reconstituted Complex), U2AF1 (Affinity Capture-Western), RP9 (Affinity Capture-MS), RP9 (Affinity Capture-MS), RP9 (Affinity Capture-MS), RP9 (Two-hybrid), RP9 (Two-hybrid), RP9 (Two-hybrid), RP9 (Two-hybrid)
ESM2 similar proteins: A2AQ19, B2GV05, O54941, O55047, O95232, P08621, P09406, P23588, P50502, P52756, P97762, Q07866, Q08CW1, Q13123, Q1ECX4, Q1RMR2, Q1RMU5, Q32KT0, Q3SX41, Q56A18, Q5NVI3, Q5R8W6, Q5RAD5, Q5RF31, Q5SRX1, Q5SUF2, Q5U2T8, Q5U2U0, Q5ZI03, Q62376, Q66HG8, Q66II8, Q6PH81, Q7TNC4, Q86UE8, Q86X95, Q8BGD9, Q8C0V0, Q8TA86, Q90ZY6
Diamond homologs: P97762, Q8TA86, Q8VZ67
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PIM1 | unknown | RP9 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
129 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 73 |
| Likely benign | 35 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3340512 | NM_203288.2(RP9):c.484_485del (p.Gln162fs) | Likely pathogenic |
SpliceAI
781 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:33095429:TATC:T | acceptor_gain | 1.0000 |
| 7:33095431:TC:T | acceptor_gain | 1.0000 |
| 7:33095432:CC:C | acceptor_gain | 1.0000 |
| 7:33095432:CCT:C | acceptor_loss | 1.0000 |
| 7:33095433:C:CC | acceptor_gain | 1.0000 |
| 7:33095439:A:AC | acceptor_gain | 1.0000 |
| 7:33095439:A:C | acceptor_gain | 1.0000 |
| 7:33095442:C:CT | acceptor_gain | 1.0000 |
| 7:33095443:A:T | acceptor_gain | 1.0000 |
| 7:33096488:CTCA:C | donor_loss | 1.0000 |
| 7:33096489:TCA:T | donor_loss | 1.0000 |
| 7:33096496:ACGT:A | donor_gain | 1.0000 |
| 7:33096497:CGTC:C | donor_gain | 1.0000 |
| 7:33096499:T:TA | donor_gain | 1.0000 |
| 7:33096556:T:C | acceptor_gain | 1.0000 |
| 7:33096564:C:CT | acceptor_gain | 1.0000 |
| 7:33097267:TTA:T | donor_loss | 1.0000 |
| 7:33097268:TA:T | donor_loss | 1.0000 |
| 7:33097269:A:AC | donor_gain | 1.0000 |
| 7:33097269:A:C | donor_loss | 1.0000 |
| 7:33097269:AC:A | donor_gain | 1.0000 |
| 7:33097270:C:CC | donor_gain | 1.0000 |
| 7:33097270:CC:C | donor_gain | 1.0000 |
| 7:33097270:CCA:C | donor_gain | 1.0000 |
| 7:33097270:CCACT:C | donor_gain | 1.0000 |
| 7:33097358:CCAAC:C | acceptor_gain | 1.0000 |
| 7:33097359:CAAC:C | acceptor_gain | 1.0000 |
| 7:33097359:CAACC:C | acceptor_gain | 1.0000 |
| 7:33097360:AAC:A | acceptor_gain | 1.0000 |
| 7:33097361:AC:A | acceptor_gain | 1.0000 |
AlphaMissense
1458 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:33097277:G:C | F133L | 1.000 |
| 7:33097277:G:T | F133L | 1.000 |
| 7:33097279:A:G | F133L | 1.000 |
| 7:33097317:C:G | C120S | 1.000 |
| 7:33097318:A:G | C120R | 1.000 |
| 7:33097318:A:T | C120S | 1.000 |
| 7:33097337:G:C | H113Q | 1.000 |
| 7:33097337:G:T | H113Q | 1.000 |
| 7:33097339:G:C | H113D | 1.000 |
| 7:33097341:C:T | G112D | 1.000 |
| 7:33097353:C:G | C108S | 1.000 |
| 7:33097354:A:G | C108R | 1.000 |
| 7:33097354:A:T | C108S | 1.000 |
| 7:33097358:C:A | W106C | 1.000 |
| 7:33097358:C:G | W106C | 1.000 |
| 7:33097360:A:G | W106R | 1.000 |
| 7:33097360:A:T | W106R | 1.000 |
| 7:33099307:A:G | C105R | 1.000 |
| 7:33099371:A:C | F83L | 1.000 |
| 7:33099371:A:T | F83L | 1.000 |
| 7:33099372:A:G | F83S | 1.000 |
| 7:33099373:A:G | F83L | 1.000 |
| 7:33099408:A:T | I71K | 1.000 |
| 7:33095421:A:G | L160S | 0.999 |
| 7:33096543:A:C | D139E | 0.999 |
| 7:33096543:A:T | D139E | 0.999 |
| 7:33096544:T:C | D139G | 0.999 |
| 7:33096544:T:G | D139A | 0.999 |
| 7:33096551:G:C | H137D | 0.999 |
| 7:33097274:T:A | R134S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000086794 (7:33105826 A>G,T), RS1000169028 (7:33094322 G>T), RS1000514907 (7:33105284 A>C), RS1000568647 (7:33110534 T>C), RS1001623936 (7:33097582 A>G), RS1001665760 (7:33110863 C>T), RS1001786135 (7:33103714 T>C), RS1001899174 (7:33102476 T>G), RS1001956091 (7:33095677 A>G), RS1001965211 (7:33104066 T>G), RS1002225011 (7:33108871 C>T), RS1002521526 (7:33102146 A>G), RS1002731619 (7:33104437 A>AG), RS1002786165 (7:33096632 GA>G), RS1003075212 (7:33096040 C>G)
Disease associations
OMIM: gene MIM:607331 | disease phenotypes: MIM:180104, MIM:268000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa 9 | Strong | Autosomal dominant |
| retinitis pigmentosa | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa 9 | Limited | AD |
Mondo (4): retinitis pigmentosa 9 (MONDO:0008378), 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
38 total (30 of 38 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant 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:0000518 | Cataract |
| 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:0007401 | Macular atrophy |
| HP:0007663 | Reduced visual acuity |
| HP:0007675 | Progressive night blindness |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
| 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 |
GWAS associations
0 associations (top):
MeSH disease descriptors (4)
| 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 |
| C566716 | Retinitis Pigmentosa 9 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Cisplatin | decreases expression, increases expression, affects cotreatment | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| T-2 Toxin | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
7 cell lines: 7 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_QX20 | K10M15 | Induced pluripotent stem cell | Male |
| CVCL_T830 | K10M17 | Induced pluripotent stem cell | Male |
| CVCL_T831 | K10M19 | Induced pluripotent stem cell | Male |
| CVCL_T832 | K10M5 | Induced pluripotent stem cell | Male |
| CVCL_T833 | K11M4 | Induced pluripotent stem cell | Female |
| CVCL_T834 | K11PD17 | Induced pluripotent stem cell | Female |
| CVCL_T835 | K11PD18 | Induced pluripotent stem cell | Female |
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 9, retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): inherited retinal dystrophy, optic atrophy, retinitis pigmentosa, retinitis pigmentosa 9