CEP76

Summary

CEP76 (centrosomal protein 76, HGNC:25727) is a protein-coding gene on chromosome 18p11.21, encoding Centrosomal protein of 76 kDa (Q8TAP6). Centrosomal protein involved in regulation of centriole duplication.

This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 79959 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 111 total — 2 pathogenic, 10 likely-pathogenic
• MANE Select transcript: NM_024899

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25727
Approved symbol	CEP76
Name	centrosomal protein 76
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	HsT1705, FLJ12542
Ensembl gene	ENSG00000101624
Ensembl biotype	protein_coding
OMIM	620791
Entrez	79959

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000262127, ENST00000423709, ENST00000585751, ENST00000586887, ENST00000587666, ENST00000587929, ENST00000589490, ENST00000589875, ENST00000590143, ENST00000591034, ENST00000592660, ENST00000593250, ENST00000939320, ENST00000939321, ENST00000945267

RefSeq mRNA: 2 — MANE Select: NM_024899 NM_001271989, NM_024899

CCDS: CCDS11861, CCDS62390

Canonical transcript exons

ENST00000262127 — 12 exons

Exon	Start	End
ENSE00001899367	12672625	12673503
ENSE00001956964	12702486	12702723
ENSE00003458391	12686262	12686450
ENSE00003489597	12698979	12699203
ENSE00003490666	12699830	12699905
ENSE00003549911	12700958	12701113
ENSE00003552626	12678109	12678442
ENSE00003617515	12691359	12691487
ENSE00003630885	12697223	12697408
ENSE00003640231	12680662	12680828
ENSE00003655233	12695254	12695351
ENSE00003672756	12674536	12674753

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 95.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6216 / max 87.8434, expressed in 1783 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171247	4.5073	1670
171248	2.5984	1131
171246	1.9586	1091
171250	0.3823	196
171249	0.1716	58
171245	0.0034	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	95.70	gold quality
oocyte	CL:0000023	95.50	gold quality
sperm	CL:0000019	93.84	gold quality
male germ cell	CL:0000015	91.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.22	gold quality
esophagus squamous epithelium	UBERON:0006920	88.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.03	gold quality
left testis	UBERON:0004533	86.32	gold quality
right testis	UBERON:0004534	86.20	gold quality
testis	UBERON:0000473	86.02	gold quality
oral cavity	UBERON:0000167	84.88	gold quality
gingival epithelium	UBERON:0001949	84.79	gold quality
gingiva	UBERON:0001828	84.55	gold quality
epithelium of esophagus	UBERON:0001976	84.23	gold quality
ventricular zone	UBERON:0003053	83.76	gold quality
cortical plate	UBERON:0005343	83.45	gold quality
ganglionic eminence	UBERON:0004023	83.43	gold quality
adrenal tissue	UBERON:0018303	83.03	gold quality
calcaneal tendon	UBERON:0003701	83.00	gold quality
cerebellar vermis	UBERON:0004720	82.45	gold quality
embryo	UBERON:0000922	82.16	gold quality
squamous epithelium	UBERON:0006914	80.58	gold quality
amniotic fluid	UBERON:0000173	79.94	gold quality
palpebral conjunctiva	UBERON:0001812	79.76	gold quality
adult organism	UBERON:0007023	79.72	gold quality
corpus epididymis	UBERON:0004359	79.65	gold quality
buccal mucosa cell	CL:0002336	79.46	gold quality
penis	UBERON:0000989	79.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.70	gold quality
cerebellum	UBERON:0002037	78.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	6.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting CEP76, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-153-5P	99.89	73.86	6317

Literature-anchored findings (GeneRIF, showing 3)

• Enforced Cep76 expression specifically inhibits centriole amplification in cells undergoing multiple rounds of duplication without preventing the formation of extra procentrioles from a parental template. (PMID:19460342)
• Here, we found that centrosomal protein of 76 kDa (Cep76), previously shown to restrain centriole amplification, interacts with cyclin-dependent kinase 2 (CDK2) and is a bona fide substrate of this kinase. Cep76 is preferentially phosphorylated by cyclin A/CDK2 at a single site S83, and this event is crucial to suppress centriole amplification in S phase (PMID:27065328)
• The centriole protein CEP76 negatively regulates PLK1 activity in the cytoplasm for proper mitotic progression. (PMID:32878946)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep76	ENSDARG00000058319
mus_musculus	Cep76	ENSMUSG00000073542
rattus_norvegicus	Cep76	ENSRNOG00000021918
drosophila_melanogaster	Cc2d2a	FBGN0263113
caenorhabditis_elegans	mks-6	WBGENE00010642

Paralogs (2): CC2D2A (ENSG00000048342), CC2D2B (ENSG00000188649)

Protein

Protein identifiers

Centrosomal protein of 76 kDa — Q8TAP6 (reviewed: Q8TAP6)

All UniProt accessions (6): Q8TAP6, B4DP81, K7EII2, K7EIV8, K7EP44, K7EPF5

UniProt curated annotations — full annotation on UniProt →

Function. Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.

Subunit / interactions. Interacts with CCP110 and CEP97.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Similarity. Belongs to the CEP76 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TAP6-1	1	yes
Q8TAP6-2	2
Q8TAP6-3	3

RefSeq proteins (2): NP_001258918, NP_079175* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028926	CEP76-C2	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR052299	CEP76	Family
IPR056288	CEP76_C	Domain
IPR056289	CEP76_N	Domain
IPR056290	CEPT76/DRC7_peptidase-like_dom	Domain

Pfam: PF15627, PF24652, PF24654, PF24656

UniProt features (9 total): splice variant 4, modified residue 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAP6-F1	87.18	0.69

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): 75, 83

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1640170	Cell Cycle
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-380287	Centrosome maturation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-5617833	Cilium Assembly
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 152 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GCM_ZNF198, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CENTRIOLE_REPLICATION, GOBP_CENTRIOLE_ASSEMBLY, MODULE_205, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_ORGANELLE_ASSEMBLY, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CENTROSOME_DUPLICATION

GO Biological Process (1): regulation of centriole replication (GO:0046599)

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

GO Cellular Component (6): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Cell Cycle, Mitotic	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
intracellular membraneless organelle	2
cellular anatomical structure	2
centriole replication	1
regulation of centrosome duplication	1
regulation of organelle assembly	1
binding	1
centriole	1
cytoplasm	1
cellular_component	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

994 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP76	CCP110	O43303	760
CEP76	SASS6	Q6UVJ0	636
CEP76	POC5	Q8NA72	636
CEP76	CCDC14	Q49A88	618
CEP76	CEP120	Q8N960	618
CEP76	CEP135	Q66GS9	605
CEP76	CEP63	Q96MT8	591
CEP76	CEP164	Q9UPV0	558
CEP76	PLK4	O00444	557
CEP76	TSSC4	Q9Y5U2	549
CEP76	SPATC1	Q76KD6	547
CEP76	SEH1L	Q96EE3	547
CEP76	CEP192	Q8TEP8	526
CEP76	CEP89	Q96ST8	523
CEP76	STIL	Q15468	515

IntAct

484 interactions, top by confidence:

A	B	Type	Score
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
RPL9	DHPS	psi-mi:“MI:0914”(association)	0.870
CEP76	RPL9	psi-mi:“MI:0915”(physical association)	0.830
CEP76	CABP5	psi-mi:“MI:0915”(physical association)	0.830
CABP5	CEP76	psi-mi:“MI:0915”(physical association)	0.830
CEP76	CRYBA4	psi-mi:“MI:0915”(physical association)	0.780
CEP76	KIAA1143	psi-mi:“MI:0915”(physical association)	0.780
CRYBA4	CEP76	psi-mi:“MI:0915”(physical association)	0.780
CEP76	DZIP1L	psi-mi:“MI:0915”(physical association)	0.740
DZIP1L	CEP76	psi-mi:“MI:0915”(physical association)	0.740
CEP76	ZBTB24	psi-mi:“MI:0915”(physical association)	0.720
CEP76	AKAP7	psi-mi:“MI:0915”(physical association)	0.720
CEP76	PIN1	psi-mi:“MI:0915”(physical association)	0.720
C22orf39	CEP76	psi-mi:“MI:0915”(physical association)	0.720
CEP76	FAM90A1	psi-mi:“MI:0915”(physical association)	0.720
TTC21A	CEP76	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (281): CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid), CEP76 (Two-hybrid)

ESM2 similar proteins: A0JN62, A2RT67, A2RUS2, A2VDU2, A4IFB6, A4IIM3, A7MBL8, B1H2P5, B4F779, O94967, P48553, Q08CL8, Q0VEJ0, Q14161, Q15650, Q3TLI0, Q4R350, Q5RAQ5, Q5RCP7, Q5RDV5, Q5TKA1, Q5XIA4, Q5ZIW2, Q5ZJK1, Q68CZ1, Q6AYF1, Q6QD73, Q7TSG1, Q7ZYH1, Q8BH15, Q8BIK4, Q8BKH7, Q8C735, Q8CG73, Q8CGF6, Q8IWR0, Q8IZQ1, Q8N6S4, Q8N960, Q8NEU8

Diamond homologs: A7E2V1, Q0V9S9, Q0VEJ0, Q28DH9, Q5RCP7, Q6DDX8, Q8I4Z1, Q8TAP6

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CyclinA2/CDK2	“down-regulates activity”	CEP76	phosphorylation
CEP76	“down-regulates activity”	PLK1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	6	9.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	10
Uncertain significance	73
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
4075828	NM_024899.4(CEP76):c.307C>T (p.Pro103Ser)	Pathogenic
4075833	NM_024899.4(CEP76):c.1122G>A (p.Lys374=)	Pathogenic
4075827	NM_024899.4(CEP76):c.497T>C (p.Leu166Pro)	Likely pathogenic
4075829	NM_024899.4(CEP76):c.903_904del (p.His301fs)	Likely pathogenic
4075830	NM_024899.4(CEP76):c.1703G>C (p.Arg568Pro)	Likely pathogenic
4075831	NM_024899.4(CEP76):c.1520_1521insT (p.Leu508fs)	Likely pathogenic
4075832	NM_024899.4(CEP76):c.71T>A (p.Val24Asp)	Likely pathogenic
4075834	NM_024899.4(CEP76):c.302T>C (p.Ile101Thr)	Likely pathogenic
4075835	NM_024899.4(CEP76):c.793G>A (p.Val265Met)	Likely pathogenic
4075837	NM_024899.4(CEP76):c.868TGG[1] (p.Trp291del)	Likely pathogenic
4075838	NM_024899.4(CEP76):c.1432T>C (p.Cys478Arg)	Likely pathogenic
599568	NM_024899.4(CEP76):c.1874G>A (p.Arg625His)	Likely pathogenic

SpliceAI

2078 predictions. Top by Δscore:

Variant	Effect	Δscore
18:12673499:GAGAT:G	acceptor_gain	1.0000
18:12673501:GAT:G	acceptor_gain	1.0000
18:12673502:ATCT:A	acceptor_loss	1.0000
18:12673503:TC:T	acceptor_loss	1.0000
18:12673504:C:CC	acceptor_gain	1.0000
18:12673506:A:C	acceptor_gain	1.0000
18:12673508:T:C	acceptor_gain	1.0000
18:12673508:T:TC	acceptor_gain	1.0000
18:12674530:CCTTA:C	donor_loss	1.0000
18:12674531:CTTAC:C	donor_loss	1.0000
18:12674532:TTAC:T	donor_loss	1.0000
18:12674534:A:AC	donor_gain	1.0000
18:12674534:A:C	donor_loss	1.0000
18:12674535:C:CC	donor_gain	1.0000
18:12674535:CCGAA:C	donor_loss	1.0000
18:12674749:AGATC:A	acceptor_gain	1.0000
18:12674750:GATC:G	acceptor_gain	1.0000
18:12674751:ATC:A	acceptor_gain	1.0000
18:12674752:TC:T	acceptor_gain	1.0000
18:12674752:TCC:T	acceptor_loss	1.0000
18:12674753:CC:C	acceptor_gain	1.0000
18:12674754:C:CA	acceptor_loss	1.0000
18:12674754:C:CC	acceptor_gain	1.0000
18:12674754:C:T	acceptor_gain	1.0000
18:12674755:T:G	acceptor_loss	1.0000
18:12674756:A:C	acceptor_gain	1.0000
18:12674761:C:CT	acceptor_gain	1.0000
18:12674762:A:T	acceptor_gain	1.0000
18:12674765:C:CT	acceptor_gain	1.0000
18:12674766:A:T	acceptor_gain	1.0000

AlphaMissense

4263 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:12674732:A:G	W549R	1.000
18:12674732:A:T	W549R	1.000
18:12678270:A:G	W488R	1.000
18:12678270:A:T	W488R	1.000
18:12691424:A:G	W290R	1.000
18:12691424:A:T	W290R	1.000
18:12697286:A:G	W215R	1.000
18:12697286:A:T	W215R	1.000
18:12673390:G:T	A652D	0.999
18:12673403:A:G	W648R	0.999
18:12673403:A:T	W648R	0.999
18:12673444:C:G	R634P	0.999
18:12673447:A:T	V633D	0.999
18:12673450:G:T	A632E	0.999
18:12674587:G:T	P597Q	0.999
18:12674593:C:T	G595E	0.999
18:12674594:C:A	G595W	0.999
18:12674594:C:G	G595R	0.999
18:12674594:C:T	G595R	0.999
18:12674595:T:A	K594N	0.999
18:12674595:T:G	K594N	0.999
18:12674598:A:C	F593L	0.999
18:12674598:A:T	F593L	0.999
18:12674599:A:G	F593S	0.999
18:12674600:A:G	F593L	0.999
18:12674640:A:C	F579L	0.999
18:12674640:A:T	F579L	0.999
18:12674641:A:G	F579S	0.999
18:12674642:A:G	F579L	0.999
18:12674695:A:C	L561W	0.999

dbSNP variants (sampled 300 via entrez): RS1000071999 (18:12700636 A>G,T), RS1000113143 (18:12663052 A>G), RS1000163509 (18:12686812 T>C,G), RS1000207842 (18:12694231 G>T), RS1000427961 (18:12670272 G>A,C), RS1000482057 (18:12688849 T>C), RS1000503794 (18:12664969 C>T), RS1000567972 (18:12666424 C>A), RS1000572099 (18:12683705 C>A), RS1000603350 (18:12688603 T>C), RS1000603463 (18:12704171 A>G), RS1000711602 (18:12670813 A>G), RS1000743019 (18:12670586 A>G), RS1000758121 (18:12670018 G>A,T), RS1000866502 (18:12703878 A>T)

Disease associations

OMIM: gene MIM:620791 | disease phenotypes: MIM:268000, MIM:213300, MIM:209900

GenCC curated gene-disease

Mondo (3): retinitis pigmentosa (MONDO:0019200), Joubert syndrome 1 (MONDO:0008944), Bardet-Biedl syndrome 1 (MONDO:0008854)

Orphanet (1): Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C537909	Bardet-Biedl syndrome 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	5
Aflatoxin B1	affects expression, increases expression, increases methylation	5
Air Pollutants	affects expression, increases abundance, decreases expression	2
Tretinoin	decreases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
periodate-oxidized adenosine	affects expression	1
aflatoxin B2	increases methylation	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Amphotericin B	decreases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	increases abundance, affects expression	1
Progesterone	increases expression	1
Urethane	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1

Clinical trials (associated diseases)

235 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)
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
NCT01068561	PHASE1	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa