CENPP

Summary

CENPP (centromere protein P, HGNC:32933) is a protein-coding gene on chromosome 9q22.31, encoding Centromere protein P (Q6IPU0). Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. It is a selective cancer dependency (DepMap: 26.7% of cell lines).

CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).

Source: NCBI Gene 401541 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 289 total — 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 26.7% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001012267

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32933
Approved symbol	CENPP
Name	centromere protein P
Location	9q22.31
Locus type	gene with protein product
Status	Approved
Aliases	RP11-19J3.3, CENP-P
Ensembl gene	ENSG00000188312
Ensembl biotype	protein_coding
OMIM	611505
Entrez	401541

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000375576, ENST00000375579, ENST00000375587

RefSeq mRNA: 3 — MANE Select: NM_001012267 NM_001012267, NM_001286969, NM_001286971

CCDS: CCDS35063, CCDS69618

Canonical transcript exons

ENST00000375587 — 8 exons

Exon	Start	End
ENSE00001368880	92611314	92611393
ENSE00001370070	92612523	92612614
ENSE00001374280	92379763	92379859
ENSE00001381377	92337541	92337629
ENSE00001381863	92345699	92345787
ENSE00001467537	92332170	92332351
ENSE00001467541	92325953	92326105
ENSE00001639038	92613019	92620529

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 84.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8654 / max 259.3969, expressed in 1754 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97353	9.4582	1660
97351	1.9824	1101
97354	0.9261	499
97352	0.4573	231
97357	0.0415	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	84.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.37	gold quality
tibialis anterior	UBERON:0001385	82.74	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.11	gold quality
gastrocnemius	UBERON:0001388	80.67	gold quality
muscle of leg	UBERON:0001383	80.64	gold quality
skin of abdomen	UBERON:0001416	78.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	78.00	gold quality
skin of leg	UBERON:0001511	77.33	gold quality
ventricular zone	UBERON:0003053	76.89	gold quality
ganglionic eminence	UBERON:0004023	76.65	gold quality
ileal mucosa	UBERON:0000331	76.23	gold quality
zone of skin	UBERON:0000014	75.00	gold quality
pancreatic ductal cell	CL:0002079	74.60	silver quality
adrenal tissue	UBERON:0018303	74.27	gold quality
stromal cell of endometrium	CL:0002255	74.05	gold quality
lower esophagus mucosa	UBERON:0035834	73.89	gold quality
cortical plate	UBERON:0005343	72.51	gold quality
left coronary artery	UBERON:0001626	72.16	gold quality
ectocervix	UBERON:0012249	72.11	gold quality
prefrontal cortex	UBERON:0000451	72.05	gold quality
smooth muscle tissue	UBERON:0001135	71.57	gold quality
esophagus mucosa	UBERON:0002469	71.52	gold quality
vermiform appendix	UBERON:0001154	71.39	gold quality
mucosa of stomach	UBERON:0001199	70.86	gold quality
popliteal artery	UBERON:0002250	70.78	gold quality
tibial artery	UBERON:0007610	70.77	gold quality
descending thoracic aorta	UBERON:0002345	70.23	gold quality
aorta	UBERON:0000947	70.20	gold quality
islet of Langerhans	UBERON:0000006	70.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

77 targeting CENPP, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6870-5P	99.99	68.55	2115
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-9983-3P	99.94	71.48	3631
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4492	99.87	68.25	3611
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 26.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Data propose that CENP-P/O/R/Q/U self-assembles on kinetochores with varying stoichiometry and undergoes a pre-mitotic maturation step that could be important for kinetochores switching into the correct conformation for microtubule-attachment. (PMID:23028590)
• A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss. (PMID:36071244)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cenpp	ENSDARG00000044135
mus_musculus	Cenpp	ENSMUSG00000021391
rattus_norvegicus	Cenpp	ENSRNOG00000062220

Protein

Protein identifiers

Centromere protein P — Q6IPU0 (reviewed: Q6IPU0)

All UniProt accessions (2): Q6IPU0, X6R9C8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.

Subunit / interactions. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.

Subcellular location. Nucleus. Chromosome. Centromere.

Similarity. Belongs to the CENP-P/CTF19 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6IPU0-1	1	yes
Q6IPU0-2	2

RefSeq proteins (3): NP_001012267, NP_001273898, NP_001273900 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027801	CENP-P	Family

Pfam: PF13096

UniProt features (25 total): strand 9, helix 7, turn 4, splice variant 2, chain 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
28OP	ELECTRON MICROSCOPY	2.7
7R5S	ELECTRON MICROSCOPY	2.83
7PKN	ELECTRON MICROSCOPY	3.2
7XHO	ELECTRON MICROSCOPY	3.29
9TAW	ELECTRON MICROSCOPY	3.54
7PB8	X-RAY DIFFRACTION	3.68
7XHN	ELECTRON MICROSCOPY	3.71
9TAX	ELECTRON MICROSCOPY	4.5
7R5V	ELECTRON MICROSCOPY	4.55
7QOO	ELECTRON MICROSCOPY	4.6
7YYH	ELECTRON MICROSCOPY	8.9
7YWX	ELECTRON MICROSCOPY	12
9TAY	ELECTRON MICROSCOPY	15.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IPU0-F1	84.96	0.59

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 (1): 38

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-141424	Amplification of signal from the kinetochores
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-69618	Mitotic Spindle Checkpoint
R-HSA-69620	Cell Cycle Checkpoints
R-HSA-73886	Chromosome Maintenance
R-HSA-774815	Nucleosome assembly
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 166 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_CHROMOSOME_ORGANIZATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, TACAATC_MIR508, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_ORGANELLE_ASSEMBLY, PETRETTO_LEFT_VENTRICLE_MASS_QTL_CIS_DN, chr9q22, FISCHER_DREAM_TARGETS, GOBP_KINETOCHORE_ORGANIZATION, REACTOME_CELL_CYCLE_CHECKPOINTS, GOCC_CHROMOSOMAL_REGION, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, SANSOM_APC_TARGETS

GO Biological Process (2): chromosome segregation (GO:0007059), CENP-A containing chromatin assembly (GO:0034080)

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

GO Cellular Component (7): inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cell Cycle	3
Mitotic Prometaphase	2
M Phase	2
Amplification of signal from the kinetochores	1
Mitotic Anaphase	1
RHO GTPase Effectors	1
Nucleosome assembly	1
Mitotic Spindle Checkpoint	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Mitotic Metaphase and Anaphase	1
Cell Cycle, Mitotic	1
Cell Cycle Checkpoints	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
cellular anatomical structure	2
intracellular membraneless organelle	2
cell cycle process	1
chromatin organization	1
kinetochore assembly	1
protein localization to CENP-A containing chromatin	1
binding	1
kinetochore	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
cytoplasm	1
chromosomal region	1

Protein interactions and networks

STRING

1032 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPP	CENPQ	Q7L2Z9	998
CENPP	CENPO	Q9BU64	997
CENPP	CENPU	Q71F23	996
CENPP	CENPI	Q92674	977
CENPP	ITGB3BP	Q13352	973
CENPP	CENPH	Q9H3R5	971
CENPP	CENPL	Q8N0S6	962
CENPP	CENPN	Q96H22	958
CENPP	CENPK	Q9BS16	950
CENPP	CENPM	Q9NSP4	948
CENPP	CENPT	Q96BT3	948
CENPP	CENPC	Q03188	915
CENPP	CENPS	Q8N2Z9	906
CENPP	CENPA	P49450	848
CENPP	CENPW	Q5EE01	815

IntAct

126 interactions, top by confidence:

A	B	Type	Score
CENPO	CENPP	psi-mi:“MI:0915”(physical association)	0.870
CENPP	CENPO	psi-mi:“MI:0915”(physical association)	0.870
RPIA	CENPP	psi-mi:“MI:0915”(physical association)	0.720
CENPP	USHBP1	psi-mi:“MI:0915”(physical association)	0.720
CENPP	RPIA	psi-mi:“MI:0915”(physical association)	0.720
CENPP		psi-mi:“MI:0915”(physical association)	0.560
CENPP	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
CENPP	NHLH1	psi-mi:“MI:0915”(physical association)	0.560
CENPP	KLC3	psi-mi:“MI:0915”(physical association)	0.560
CENPP	TEX11	psi-mi:“MI:0915”(physical association)	0.560
CENPP	ZNF341	psi-mi:“MI:0915”(physical association)	0.560
	CENPP	psi-mi:“MI:0915”(physical association)	0.560
NHLH1	CENPP	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	CENPP	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (86): CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), CENPP (Two-hybrid), INA (Affinity Capture-MS), CENPO (Affinity Capture-MS), CENPQ (Affinity Capture-MS), ITGB3BP (Affinity Capture-MS), CENPU (Affinity Capture-MS), CENPP (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A2AQ14, A5D791, A5D7N9, B1MT51, B2RZC4, B5SNH4, D3IUT5, D4A4K3, O43482, O55036, O70167, O70173, O94972, P54274, P70371, Q08AX9, Q503Y8, Q5H9M0, Q68UT5, Q6DRL4, Q6IE81, Q6IFT4, Q6IPU0, Q6NPP4, Q6REY9, Q6ZNE5, Q6ZPI0, Q7Z2Z1, Q7Z4M0, Q7Z7J5, Q80VH0, Q8BQ33, Q8BW88, Q8CDJ3, Q8GSA7, Q8ND61, Q8NEM2, Q920I9, Q9CWH4

Diamond homologs: Q1LV50, Q1T7B7, Q6IPU0, Q9CZ92

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CENPP	“form complex”	“CCAN complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Nucleosome assembly	6	109.8×	3e-09
Chromosome Maintenance	6	48.8×	2e-07
Amplification of signal from the kinetochores	5	37.9×	9e-06
Deposition of new CENPA-containing nucleosomes at the centromere	6	36.6×	9e-07
Mitotic Spindle Checkpoint	5	30.5×	1e-05
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	5	22.4×	5e-05
Mitotic Metaphase and Anaphase	6	22.3×	9e-06
Mitotic Anaphase	6	22.3×	9e-06

GO biological processes:

GO term	Partners	Fold	FDR
chromosome segregation	6	24.8×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	238
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1684593	NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter)	Likely pathogenic

SpliceAI

7568 predictions. Top by Δscore:

Variant	Effect	Δscore
9:92332168:A:AG	acceptor_gain	1.0000
9:92332169:G:GG	acceptor_gain	1.0000
9:92332169:GA:G	acceptor_gain	1.0000
9:92332169:GAA:G	acceptor_gain	1.0000
9:92332169:GAAA:G	acceptor_gain	1.0000
9:92332348:AAGA:A	donor_gain	1.0000
9:92332349:AGA:A	donor_gain	1.0000
9:92332350:GA:G	donor_gain	1.0000
9:92332350:GAG:G	donor_gain	1.0000
9:92332352:G:GG	donor_gain	1.0000
9:92345697:A:AG	acceptor_gain	1.0000
9:92345698:G:GG	acceptor_gain	1.0000
9:92379762:GA:G	acceptor_gain	1.0000
9:92385677:T:A	donor_gain	1.0000
9:92385786:TTGAA:T	acceptor_gain	1.0000
9:92385787:TGAA:T	acceptor_gain	1.0000
9:92385788:GAA:G	acceptor_gain	1.0000
9:92385789:AA:A	acceptor_gain	1.0000
9:92385791:C:CC	acceptor_gain	1.0000
9:92385791:CTGA:C	acceptor_loss	1.0000
9:92385792:T:G	acceptor_loss	1.0000
9:92386294:TTT:T	acceptor_gain	1.0000
9:92386294:TTTC:T	acceptor_loss	1.0000
9:92386295:TT:T	acceptor_gain	1.0000
9:92386295:TTCT:T	acceptor_loss	1.0000
9:92386296:TCTG:T	acceptor_loss	1.0000
9:92386297:C:CC	acceptor_gain	1.0000
9:92386297:CTGT:C	acceptor_loss	1.0000
9:92386298:T:C	acceptor_loss	1.0000
9:92389848:ACTT:A	donor_loss	1.0000

AlphaMissense

1883 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:92612542:T:A	W222R	0.989
9:92612542:T:C	W222R	0.989
9:92379833:C:A	R180S	0.988
9:92337597:T:C	F116L	0.985
9:92337599:T:A	F116L	0.985
9:92337599:T:G	F116L	0.985
9:92379834:G:C	R180P	0.983
9:92337609:T:C	F120L	0.981
9:92337611:T:A	F120L	0.981
9:92337611:T:G	F120L	0.981
9:92379800:A:C	S169R	0.973
9:92379802:C:A	S169R	0.973
9:92379802:C:G	S169R	0.973
9:92337610:T:C	F120S	0.971
9:92345739:T:A	I140K	0.969
9:92612544:G:C	W222C	0.962
9:92612544:G:T	W222C	0.962
9:92613066:T:C	F262L	0.961
9:92613068:C:A	F262L	0.961
9:92613068:C:G	F262L	0.961
9:92337598:T:C	F116S	0.960
9:92345733:T:C	L138P	0.960
9:92337604:T:C	L118P	0.955
9:92379834:G:T	R180L	0.953
9:92613067:T:C	F262S	0.951
9:92379791:T:C	F166L	0.945
9:92379793:T:A	F166L	0.945
9:92379793:T:G	F166L	0.945
9:92337577:G:A	G109E	0.944
9:92345739:T:G	I140R	0.943

dbSNP variants (sampled 300 via entrez): RS1000004894 (9:92581268 T>C), RS1000015031 (9:92384132 T>C), RS1000021779 (9:92434414 G>A), RS1000031047 (9:92479716 T>G), RS1000034795 (9:92480031 T>C), RS1000035901 (9:92554235 G>C,T), RS1000060549 (9:92391450 G>A), RS1000070619 (9:92388166 CT>C,CTT), RS1000093648 (9:92571481 A>G), RS1000094805 (9:92501363 C>A,T), RS1000134489 (9:92573453 C>T), RS1000140589 (9:92404846 T>C), RS1000146259 (9:92571646 T>C), RS1000156409 (9:92528134 A>G), RS1000168517 (9:92573579 C>G)

Disease associations

OMIM: gene MIM:611505 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST006624_57	Systolic blood pressure	9.000000e-13
GCST006814_5	End-stage renal disease	3.000000e-06
GCST007267_24	Systolic blood pressure	8.000000e-12
GCST007269_104	Pulse pressure	2.000000e-10
GCST008163_352	Height	1.000000e-09
GCST008839_82	Height	4.000000e-15
GCST008972_191	Urate levels	3.000000e-09
GCST010242_360	HDL cholesterol levels	1.000000e-10
GCST010244_384	Triglyceride levels	1.000000e-10
GCST010725_16	Malaria	9.000000e-06
GCST010725_28	Malaria	6.000000e-06
GCST010725_95	Malaria	6.000000e-06
GCST012228_386	Waist-hip index	3.000000e-08
GCST90020025_1130	Waist-to-hip ratio adjusted for BMI	1.000000e-12
GCST90020027_913	Waist-hip index	3.000000e-12

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0004531	urate measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

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
Aflatoxin B1	decreases expression, increases methylation	3
Benzo(a)pyrene	affects methylation, decreases expression	2
Tretinoin	decreases expression	2
propionaldehyde	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
beta-lapachone	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
abrine	decreases expression	1
bisphenol S	increases methylation	1
Sunitinib	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Fulvestrant	decreases methylation, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Methapyrilene	increases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Oxygen	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists