CNTROB

Summary

CNTROB (centrobin, centriole duplication and spindle assembly protein, HGNC:29616) is a protein-coding gene on chromosome 17p13.1, encoding Centrobin (Q8N137). Required for centriole duplication.

This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 116840 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 176 total — 1 pathogenic
• MANE Select transcript: NM_053051

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29616
Approved symbol	CNTROB
Name	centrobin, centriole duplication and spindle assembly protein
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	LIP8, PP1221
Ensembl gene	ENSG00000170037
Ensembl biotype	protein_coding
OMIM	611425
Entrez	116840

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 16 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay

ENST00000380262, ENST00000563694, ENST00000565740, ENST00000570782, ENST00000570784, ENST00000571540, ENST00000571632, ENST00000573862, ENST00000574430, ENST00000575408, ENST00000576536, ENST00000576538, ENST00000576587, ENST00000576723, ENST00000576922, ENST00000881813, ENST00000881814, ENST00000961846, ENST00000961847, ENST00000961848, ENST00000961849, ENST00000961850, ENST00000961851

RefSeq mRNA: 11 — MANE Select: NM_053051 NM_001037144, NM_001330124, NM_001353202, NM_001353203, NM_001353204, NM_001353205, NM_001353206, NM_001353207, NM_001353208, NM_001353209, NM_053051

CCDS: CCDS11126, CCDS32557, CCDS82063

Canonical transcript exons

ENST00000563694 — 19 exons

Exon	Start	End
ENSE00001609771	7934465	7934546
ENSE00003460317	7945728	7945986
ENSE00003462411	7948487	7948619
ENSE00003464476	7939513	7939749
ENSE00003477675	7948157	7948327
ENSE00003479329	7936366	7936482
ENSE00003513048	7947571	7947722
ENSE00003522521	7934138	7934222
ENSE00003533579	7947916	7947979
ENSE00003639538	7949085	7949157
ENSE00003654946	7936701	7936817
ENSE00003662825	7937164	7937262
ENSE00003665819	7944123	7944248
ENSE00003669620	7944476	7944638
ENSE00003672723	7940096	7940242
ENSE00003687963	7943391	7943524
ENSE00003784956	7934989	7935145
ENSE00003891658	7932206	7933349
ENSE00003893384	7949385	7949920

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 96.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0376 / max 65.4073, expressed in 1720 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159445	5.8030	1693
159446	0.2346	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.89	gold quality
right testis	UBERON:0004534	96.77	gold quality
ventricular zone	UBERON:0003053	96.53	gold quality
body of uterus	UBERON:0009853	96.16	gold quality
ganglionic eminence	UBERON:0004023	95.17	gold quality
right lung	UBERON:0002167	94.97	gold quality
testis	UBERON:0000473	94.62	gold quality
upper lobe of left lung	UBERON:0008952	94.41	gold quality
pancreatic ductal cell	CL:0002079	94.07	silver quality
cortical plate	UBERON:0005343	93.42	gold quality
endocervix	UBERON:0000458	93.31	gold quality
upper lobe of lung	UBERON:0008948	93.18	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.11	silver quality
left ventricle myocardium	UBERON:0006566	93.06	silver quality
kidney epithelium	UBERON:0004819	92.80	silver quality
ectocervix	UBERON:0012249	92.73	gold quality
lower esophagus mucosa	UBERON:0035834	92.61	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.60	gold quality
right lobe of thyroid gland	UBERON:0001119	92.57	gold quality
skin of leg	UBERON:0001511	92.38	gold quality
right uterine tube	UBERON:0001302	92.35	gold quality
smooth muscle tissue	UBERON:0001135	92.28	gold quality
left lobe of thyroid gland	UBERON:0001120	92.18	gold quality
right ovary	UBERON:0002118	92.17	gold quality
adenohypophysis	UBERON:0002196	92.10	gold quality
left ovary	UBERON:0002119	92.02	gold quality
left uterine tube	UBERON:0001303	91.96	gold quality
skin of abdomen	UBERON:0001416	91.96	gold quality
mucosa of transverse colon	UBERON:0004991	91.89	gold quality
transverse colon	UBERON:0001157	91.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting CNTROB, 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-196A-1-3P	99.99	72.15	2772
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872

Literature-anchored findings (GeneRIF, showing 15)

• Centrobin is a centriole-associated protein that asymmetrically localizes to the daughter centriole. (PMID:16275750)
• Results report that NIP2, previously identified as centrobin, is a novel substrate of Nek2, and that NIP2 has a role in stabilizing the microtubule structure. (PMID:17535851)
• Inhibition of p38 activity or downregulation of p38 expression could overcome the cell-cycle arrest caused by centrobin depletion. (PMID:20085806)
• a requirement of Centrobin in maintaining centrosome integrity, which in turn promotes anchoring of mitotic spindle to the centrosomes. (PMID:20190801)
• Data propose that centrobin functions as a microtubule stabilizing factor and PLK1 enhances centrobin activity for proper spindle formation during mitosis. (PMID:20511645)
• Centrobin facilitates the elongation and stability of centrioles via its interaction with tubulins. (PMID:21576394)
• Our results indicate that genetic polymorphisms of centrobin and Nek2 are related to breast cancer susceptibility in Chinese Han women. (PMID:23001753)
• NEK2 phosphorylation antagonizes the microtubule stabilizing activity of centrobin. (PMID:23291182)
• it is proposed that Centrobin might regulate microtubule nucleation and organization by controlling the amount of pericentriolar matrix (PMID:23442802)
• Centrobin-CPAP interaction is critical for the recruitment of CPAP to procentrioles to promote the elongation of daughter centrioles and for the persistence of CPAP on preexisting mother centrioles. (PMID:24700465)
• Centrobin plays a role in the stability and centriole elongation function of CPAP and limits the centriole length. (PMID:25616662)
• cytoplasmic centrobin has roles in noncentrosomal microtubule formation in specific cell types and during the cell cycle (PMID:26083938)
• Suggest centrobin functions as a positive regulator of vertebrate ciliogenesis. (PMID:29440264)
• Centrobin plays a role in the cellular response to DNA damage. (PMID:31416397)
• Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair. (PMID:37759442)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cntrob	ENSMUSG00000032782
rattus_norvegicus	Cntrob	ENSRNOG00000008270

Protein

Protein identifiers

Centrobin — Q8N137 (reviewed: Q8N137)

Alternative names: Centrosomal BRCA2-interacting protein, LYST-interacting protein 8

All UniProt accessions (8): Q8N137, I3L0P9, I3L1A6, I3L1B0, I3L1E9, I3L1Z8, I3L3N2, I3L465

UniProt curated annotations — full annotation on UniProt →

Function. Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis.

Subunit / interactions. Interacts with LYST.

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

Tissue specificity. Widely expressed (at protein level). Highly expressed in testis. Also expressed in spleen, thymus, prostate, small intestine, colon and peripheral blood leukocytes.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8N137-1	1, Alpha	yes
Q8N137-2	2, Beta
Q8N137-3	3
Q8N137-4	4
Q8N137-5	5

RefSeq proteins (11): NP_001032221, NP_001317053, NP_001340131, NP_001340132, NP_001340133, NP_001340134, NP_001340135, NP_001340136, NP_001340137, NP_001340138, NP_444279* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038923	Centrobin	Family

UniProt features (26 total): region of interest 8, splice variant 6, compositionally biased region 5, modified residue 2, sequence variant 2, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N137-F1	67.31	0.38

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): 80, 790

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 123 (showing top): ATF_B, GOBP_MITOTIC_CYTOKINESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, CREBP1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CYTOKINETIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, CREB_Q4, GOBP_CENTRIOLE_ASSEMBLY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CYTOKINESIS, FISCHER_G2_M_CELL_CYCLE, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (5): centriole replication (GO:0007099), centrosome separation (GO:0051299), regulation of cilium assembly (GO:1902017), mitotic cytokinetic process (GO:1902410), cell division (GO:0051301)

GO Molecular Function (2): protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (6): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	3
cell cycle process	2
intracellular membraneless organelle	2
cellular anatomical structure	2
centrosome duplication	1
centriole assembly	1
centrosome cycle	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
mitotic cell cycle	1
mitotic cytokinesis	1
cytokinetic process	1
mitotic cell cycle process	1
cellular process	1
protein binding	1
binding	1
centriole	1
cytoplasm	1
cilium	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CNTROB	PCNT	O95613	892
CNTROB	NIN	Q8N4C6	886
CNTROB	CETN2	P41208	879
CNTROB	CNTLN	Q9NXG0	845
CNTROB	CEP135	Q66GS9	819
CNTROB	BRCA2	P51587	771
CNTROB	SASS6	Q6UVJ0	727
CNTROB	TUBA4A	P05215	726
CNTROB	CEP120	Q8N960	713
CNTROB	NUP85	Q9BW27	692
CNTROB	CEP164	Q9UPV0	664
CNTROB	CCP110	O43303	663
CNTROB	POC5	Q8NA72	657
CNTROB	CPAP	Q9HC77	653
CNTROB	CEP131	Q9UPN4	651

IntAct

72 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
SLMAP	STRN	psi-mi:“MI:2364”(proximity)	0.710
SAV1	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
CNTROB	COASY	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	TTC23	psi-mi:“MI:0915”(physical association)	0.560
RAD23A	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	MCRS1	psi-mi:“MI:0915”(physical association)	0.560
CWF19L2	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
ELOA	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	RSPH14	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	PNKP	psi-mi:“MI:0915”(physical association)	0.560
TCEA2	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	PELI1	psi-mi:“MI:0915”(physical association)	0.560
DUSP29	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
EPM2AIP1	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
SYT6	CNTROB	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	TSHZ2	psi-mi:“MI:0915”(physical association)	0.560
CNTROB	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
CNTROB	CAD	psi-mi:“MI:0915”(physical association)	0.400
GSK3A	CNTROB	psi-mi:“MI:0915”(physical association)	0.370
CNTROB	SMARCA2	psi-mi:“MI:0915”(physical association)	0.370
CNTROB	TSC1	psi-mi:“MI:0915”(physical association)	0.370
CNTROB	CENPX	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (184): CNTROB (Two-hybrid), CNTROB (Two-hybrid), CNTROB (Proximity Label-MS), CNTROB (Proximity Label-MS), CNTROB (Proximity Label-MS), ADSL (Proximity Label-MS), ALMS1 (Proximity Label-MS), AURKA (Proximity Label-MS), BANF1 (Proximity Label-MS), BSN (Proximity Label-MS), BTF3 (Proximity Label-MS), CNOT11 (Proximity Label-MS), CCDC85C (Proximity Label-MS), CEP120 (Proximity Label-MS), CEP192 (Proximity Label-MS)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: Q8CB62, Q8N137

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NEK2	“down-regulates activity”	CNTROB	phosphorylation
PLK1	“up-regulates activity”	CNTROB	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	143
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1376044	NC_000017.10:g.(?7571752)(8135555_?)del	Pathogenic

SpliceAI

3652 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7934223:G:GG	donor_gain	1.0000
17:7934227:G:GG	donor_gain	1.0000
17:7934547:G:GG	donor_gain	1.0000
17:7934982:T:TA	acceptor_gain	1.0000
17:7934987:A:AG	acceptor_gain	1.0000
17:7934988:G:GG	acceptor_gain	1.0000
17:7934988:GC:G	acceptor_gain	1.0000
17:7936365:GCATT:G	acceptor_gain	1.0000
17:7936479:CAAG:C	donor_loss	1.0000
17:7936480:AAG:A	donor_loss	1.0000
17:7936481:AG:A	donor_loss	1.0000
17:7936482:GG:G	donor_loss	1.0000
17:7936483:G:T	donor_loss	1.0000
17:7936694:A:AG	acceptor_gain	1.0000
17:7936698:A:AG	acceptor_gain	1.0000
17:7936699:A:G	acceptor_gain	1.0000
17:7936814:GGAG:G	donor_gain	1.0000
17:7936815:G:GT	donor_gain	1.0000
17:7939504:C:CA	acceptor_gain	1.0000
17:7939696:G:GT	donor_gain	1.0000
17:7939717:G:GT	donor_gain	1.0000
17:7939721:A:T	donor_gain	1.0000
17:7939739:A:T	donor_gain	1.0000
17:7939743:G:GT	donor_gain	1.0000
17:7939745:AGAAG:A	donor_loss	1.0000
17:7939746:GAAG:G	donor_gain	1.0000
17:7939747:AAGGT:A	donor_loss	1.0000
17:7939748:AGG:A	donor_loss	1.0000
17:7939750:GTAAA:G	donor_loss	1.0000
17:7939751:T:G	donor_loss	1.0000

AlphaMissense

5815 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7936475:T:C	L235P	0.995
17:7943391:G:C	A438P	0.994
17:7936725:T:A	W246R	0.993
17:7936725:T:C	W246R	0.993
17:7935141:G:C	R197P	0.991
17:7943424:T:C	S449P	0.991
17:7934172:T:A	V102D	0.990
17:7936432:G:C	A221P	0.990
17:7936705:T:C	L239P	0.990
17:7936412:T:C	L214P	0.989
17:7934184:T:C	L106P	0.988
17:7936391:T:C	L207P	0.988
17:7936727:G:C	W246C	0.987
17:7936727:G:T	W246C	0.987
17:7940223:T:C	L431P	0.986
17:7943410:G:C	R444P	0.986
17:7944131:T:C	L485P	0.985
17:7934184:T:A	L106H	0.984
17:7944562:T:C	L553P	0.984
17:7948224:A:C	K759N	0.984
17:7948224:A:T	K759N	0.984
17:7935140:C:A	R197S	0.982
17:7936454:A:T	K228I	0.982
17:7936747:G:C	R253P	0.981
17:7940217:T:C	L429P	0.980
17:7936455:A:C	K228N	0.979
17:7936455:A:T	K228N	0.979
17:7936475:T:A	L235Q	0.979
17:7943443:T:C	L455P	0.979
17:7948223:A:T	K759I	0.979

dbSNP variants (sampled 300 via entrez): RS1000040924 (17:7933149 C>A,T), RS1000162751 (17:7932392 C>T), RS1000189964 (17:7939211 G>A), RS1000433162 (17:7932804 G>C,T), RS1000559967 (17:7938128 A>G), RS1000827805 (17:7946149 A>G), RS1000860348 (17:7943730 C>G,T), RS1001142904 (17:7930848 A>T), RS1001192337 (17:7941285 A>G), RS1001336571 (17:7944072 C>T), RS1002795086 (17:7934651 A>C,T), RS1002822579 (17:7930937 T>C), RS1002868228 (17:7940930 T>C), RS1002925713 (17:7934055 G>A,C,T), RS1003042112 (17:7937450 G>A)

Disease associations

OMIM: gene MIM:611425 | disease phenotypes: MIM:204000, MIM:601777, MIM:151623, MIM:609266

GenCC curated gene-disease

Mondo (3): Leber congenital amaurosis 1 (MONDO:0008764), cone-rod dystrophy 6 (MONDO:0011143), Li-Fraumeni syndrome (MONDO:0018875)

Orphanet (3): Cone rod dystrophy (Orphanet:1872), Leber congenital amaurosis (Orphanet:65), Li-Fraumeni syndrome (Orphanet:524)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_119	Refractive error	3.000000e-22

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016864	Li-Fraumeni Syndrome	C04.700.600; C16.320.700.600; C18.452.284.520
C538363	Retinal cone dystrophy 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
aristolochic acid I	increases expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression, increases abundance, affects cotreatment	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ICG 001	decreases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Tretinoin	increases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	decreases methylation	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

24 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01464086	PHASE3	COMPLETED	LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome)
NCT06088030	PHASE2	RECRUITING	Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer
NCT01014052	PHASE1	COMPLETED	Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations
NCT01521793	PHASE1	COMPLETED	Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)
NCT01981525	PHASE1	COMPLETED	A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome
NCT03920007	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
NCT00406445	Not specified	COMPLETED	Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
NCT01143454	Not specified	RECRUITING	Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
NCT01443468	Not specified	RECRUITING	Clinical and Genetic Studies of Li-Fraumeni Syndrome
NCT01737255	Not specified	COMPLETED	Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome
NCT02289326	Not specified	COMPLETED	Biomarker Monitoring in TP53 Mutation Carriers
NCT02950987	Not specified	ACTIVE_NOT_RECRUITING	Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT03176836	Not specified	ENROLLING_BY_INVITATION	Li-Fraumeni Syndrome Imaging Study
NCT04367246	Not specified	RECRUITING	Li-Fraumeni Syndrome/TP53 Biobank
NCT04541654	Not specified	RECRUITING	Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
NCT04966923	Not specified	COMPLETED	Phenotype and Prognosis of Patients With Breast Cancer and Pathogenic Variants of TP53
NCT04982744	Not specified	RECRUITING	Registry of Li Fraumeni and Li Fraumeni Like Syndromes
NCT05126810	Not specified	RECRUITING	Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling
NCT06163365	Not specified	UNKNOWN	Inherited Cancer Early Diagnosis (ICED) Study
NCT06523582	Not specified	RECRUITING	Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
NCT06712095	Not specified	RECRUITING	Video Capsule Examination in Patients With Lynch Syndrome
NCT07005297	Not specified	NOT_YET_RECRUITING	Clinical Genetics Branch Eligibility Screening Survey
NCT07032922	Not specified	COMPLETED	Exploring How to Adapt an Evidence-Based Mindful Self-Compassion Program for Young Adults With Li-Fraumeni Syndrome