POF1B

Summary

POF1B (POF1B actin binding protein, HGNC:13711) is a protein-coding gene on chromosome Xq21.1, encoding Protein POF1B (Q8WVV4). Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton.

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called “POF1” and “POF2” have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene’s expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined.

Source: NCBI Gene 79983 — RefSeq curated summary.

At a glance

• Gene–disease (curated): premature ovarian failure 2B (Moderate, GenCC)
• Clinical variants (ClinVar): 188 total
• Phenotypes (HPO): 9
• Druggable target: yes
• MANE Select transcript: NM_024921

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13711
Approved symbol	POF1B
Name	POF1B actin binding protein
Location	Xq21.1
Locus type	gene with protein product
Status	Approved
Aliases	POF, FLJ22792
Ensembl gene	ENSG00000124429
Ensembl biotype	protein_coding
OMIM	300603
Entrez	79983

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 14 protein_coding

ENST00000262753, ENST00000373145, ENST00000871672, ENST00000871673, ENST00000871674, ENST00000871675, ENST00000871676, ENST00000871677, ENST00000871678, ENST00000871679, ENST00000871680, ENST00000871681, ENST00000871682, ENST00000871683

RefSeq mRNA: 2 — MANE Select: NM_024921 NM_001307940, NM_024921

CCDS: CCDS14452, CCDS78497

Canonical transcript exons

ENST00000262753 — 17 exons

Exon	Start	End
ENSE00000847197	85306181	85306333
ENSE00000847198	85307163	85307276
ENSE00000847199	85308124	85308216
ENSE00000847201	85330949	85331079
ENSE00000847202	85345860	85346042
ENSE00000847203	85351350	85351451
ENSE00000847204	85359550	85359630
ENSE00000847205	85367692	85367766
ENSE00001175251	85314432	85314506
ENSE00001175260	85315707	85315734
ENSE00001288883	85379639	85379665
ENSE00002170891	85379173	85379495
ENSE00003498250	85303406	85303488
ENSE00003538354	85305791	85305910
ENSE00003544526	85277396	85279426
ENSE00003577867	85304343	85304471
ENSE00003640772	85282203	85282317

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 96.72.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6204 / max 294.5205, expressed in 329 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199865	1.5897	255
199866	0.6571	221
199868	0.2128	123
199867	0.1607	78

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	96.72	gold quality
skin of leg	UBERON:0001511	96.36	gold quality
skin of abdomen	UBERON:0001416	96.16	gold quality
zone of skin	UBERON:0000014	95.85	gold quality
rectum	UBERON:0001052	95.71	gold quality
upper leg skin	UBERON:0004262	95.13	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.82	gold quality
colonic mucosa	UBERON:0000317	93.70	gold quality
skin of hip	UBERON:0001554	91.64	gold quality
tongue squamous epithelium	UBERON:0006919	90.95	gold quality
jejunal mucosa	UBERON:0000399	89.43	gold quality
gingiva	UBERON:0001828	88.84	gold quality
mucosa of transverse colon	UBERON:0004991	88.74	gold quality
gingival epithelium	UBERON:0001949	88.15	gold quality
buccal mucosa cell	CL:0002336	88.14	gold quality
esophagus mucosa	UBERON:0002469	87.37	gold quality
cervix epithelium	UBERON:0004801	87.14	gold quality
duodenum	UBERON:0002114	87.04	gold quality
epithelium of esophagus	UBERON:0001976	86.60	gold quality
squamous epithelium	UBERON:0006914	86.30	gold quality
esophagus squamous epithelium	UBERON:0006920	86.00	gold quality
penis	UBERON:0000989	85.96	gold quality
mammalian vulva	UBERON:0000997	84.82	gold quality
amniotic fluid	UBERON:0000173	84.73	gold quality
lower esophagus mucosa	UBERON:0035834	84.58	gold quality
islet of Langerhans	UBERON:0000006	84.35	gold quality
hair follicle	UBERON:0002073	82.97	silver quality
oviduct epithelium	UBERON:0004804	82.04	gold quality
transverse colon	UBERON:0001157	81.59	gold quality
oral cavity	UBERON:0000167	81.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.68
E-ENAD-27	no	3.38
E-GEOD-99795	no	2.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP63

miRNA regulators (miRDB)

108 targeting POF1B, 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-656-3P	100.00	72.15	2788
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3658	99.96	73.87	4379
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6124	99.87	69.78	3551

Literature-anchored findings (GeneRIF, showing 4)

• Our findings could not demonstrate any involvement of POF1B in premature ovarian failure (PMID:15459172)
• The POF1B candidate gene for premature ovarian failure regulates epithelial polarity (PMID:21940798)
• POF1B was restricted to granular layers in human healthy epidermis, whereas it largely increased in hyperproliferative human skin diseases, thus demonstrating the localization of POF1B also in desmosomes of multistratified epithelia. (PMID:25084053)
• A novel POF1B variant in a Chinese patient is associated with premature ovarian failure. (PMID:34423420)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pof1b	ENSDARG00000054060
mus_musculus	Pof1b	ENSMUSG00000034607
rattus_norvegicus	Pof1b	ENSRNOG00000004795

Protein

Protein identifiers

Protein POF1B — Q8WVV4 (reviewed: Q8WVV4)

Alternative names: Premature ovarian failure protein 1B

All UniProt accessions (1): Q8WVV4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.

Subunit / interactions. Interacts with nonmuscle actin.

Subcellular location. Cell junction. Tight junction.

Disease relevance. Premature ovarian failure 2B (POF2B) [MIM:300604] An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WVV4-2	2	yes
Q8WVV4-1	1
Q8WVV4-3	3

RefSeq proteins (2): NP_001294869, NP_079197* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026186	POF1B	Family
IPR056240	POF1B_HlH	Domain

Pfam: PF24617

UniProt features (15 total): sequence variant 8, splice variant 3, sequence conflict 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3BH9	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVV4-F1	62.59	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 143 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOZGIT_ESR1_TARGETS_DN, GOBP_APICAL_JUNCTION_ASSEMBLY, RACCACAR_AML_Q6, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, RYTTCCTG_ETS2_B, AFFAR_YY1_TARGETS_DN, GOMF_ACTIN_BINDING, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_EPITHELIAL_CELL_MORPHOGENESIS, FUJII_YBX1_TARGETS_UP

GO Biological Process (4): epithelial cell morphogenesis (GO:0003382), actin filament organization (GO:0007015), actin cytoskeleton organization (GO:0030036), bicellular tight junction assembly (GO:0070830)

GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (5): actin filament (GO:0005884), adherens junction (GO:0005912), bicellular tight junction (GO:0005923), desmosome (GO:0030057), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell junction	2
cell morphogenesis	1
epithelial cell development	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeleton organization	1
actin filament-based process	1
apical junction assembly	1
tight junction assembly	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
actin cytoskeleton	1
polymeric cytoskeletal fiber	1
apical junction complex	1
tight junction	1
cell junction	1

Protein interactions and networks

STRING

768 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POF1B	DIAPH2	O60879	875
POF1B	BMP15	O95972	871
POF1B	NOBOX	O60393	869
POF1B	FIGLA	Q6QHK4	860
POF1B	FOXL2	P58012	752
POF1B	FMR1	Q06787	728
POF1B	DACH2	Q96NX9	669
POF1B	ZNF711	Q9Y462	643
POF1B	SATL1	Q86VE3	627
POF1B	NR5A1	Q13285	584
POF1B	IDS	P22304	540
POF1B	G5EA03	G5EA03	500
POF1B	APOOL	Q6UXV4	489
POF1B	NXF5	Q9H1B4	480
POF1B	KIAA1191	Q96A73	478

IntAct

169 interactions, top by confidence:

A	B	Type	Score
ASH2L	KMT2D	psi-mi:“MI:0914”(association)	0.890
CDK5	FIBP	psi-mi:“MI:0914”(association)	0.840
LSMEM2	STX7	psi-mi:“MI:0914”(association)	0.740
JADE1	KAT7	psi-mi:“MI:0914”(association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
CFAP298	PEX7	psi-mi:“MI:0914”(association)	0.620
FES	DSP	psi-mi:“MI:0914”(association)	0.560
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
GMCL1	A2ML1	psi-mi:“MI:0914”(association)	0.530
ZSCAN12	A2ML1	psi-mi:“MI:0914”(association)	0.530
CA8	IGLL5	psi-mi:“MI:0914”(association)	0.530
ZDHHC23	GAPDHS	psi-mi:“MI:0914”(association)	0.530
NDUFS5	NDUFS4	psi-mi:“MI:0914”(association)	0.530
CCDC51	TGM5	psi-mi:“MI:0914”(association)	0.530
KIR3DS1	PPL	psi-mi:“MI:0914”(association)	0.530
ACAD9	PPL	psi-mi:“MI:0914”(association)	0.530
DTL	DNAJA2	psi-mi:“MI:0914”(association)	0.530
PHAF1	PSMG1	psi-mi:“MI:0914”(association)	0.530
SPICE1	SERPINB2	psi-mi:“MI:0914”(association)	0.530
STK16	FLG	psi-mi:“MI:0914”(association)	0.530
POMK	CLGN	psi-mi:“MI:0914”(association)	0.530
SGF29	MATN2	psi-mi:“MI:0914”(association)	0.530
E6	CASK	psi-mi:“MI:0914”(association)	0.520
ESR1		psi-mi:“MI:0914”(association)	0.460
POF1B	PGK2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (239): POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Proximity Label-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS), POF1B (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A3KNA5, A6PWD2, B8A5S6, H2MTR9, O35550, O35551, O60296, O94986, Q05D60, Q0VF96, Q15276, Q3MHH7, Q498G2, Q4KM62, Q4L180, Q4R703, Q5M9N0, Q5R829, Q5RBB5, Q5SZL2, Q5U4W1, Q6DIS8, Q6NRK1, Q6NRX3, Q6P2H3, Q6P402, Q6P6L0, Q6PD31, Q7T019, Q86SQ7, Q8BMK0, Q8BVC4, Q8CFC9, Q8CGZ2, Q8K4L4, Q8R2H7, Q8VC66

Diamond homologs: Q5RBB5, Q8K4L4, Q8WVV4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	80
Likely benign	12
Benign	27

Top pathogenic / likely-pathogenic (0)

SpliceAI

2285 predictions. Top by Δscore:

Variant	Effect	Δscore
X:85282201:A:AC	donor_gain	1.0000
X:85282202:C:CC	donor_gain	1.0000
X:85282202:CA:C	donor_gain	1.0000
X:85282202:CACAA:C	donor_gain	1.0000
X:85303404:A:AC	donor_gain	1.0000
X:85303405:C:CC	donor_gain	1.0000
X:85303490:T:C	acceptor_gain	1.0000
X:85304353:CG:C	donor_gain	1.0000
X:85304467:TGGGA:T	acceptor_gain	1.0000
X:85304472:C:CC	acceptor_gain	1.0000
X:85305789:AC:A	donor_gain	1.0000
X:85305790:CC:C	donor_gain	1.0000
X:85306177:ATAC:A	donor_loss	1.0000
X:85306178:TA:T	donor_loss	1.0000
X:85306179:A:AT	donor_loss	1.0000
X:85306180:C:CG	donor_loss	1.0000
X:85306218:CGT:C	donor_gain	1.0000
X:85306330:CTTG:C	acceptor_gain	1.0000
X:85306331:TTG:T	acceptor_gain	1.0000
X:85306332:TG:T	acceptor_gain	1.0000
X:85306334:C:CC	acceptor_gain	1.0000
X:85306334:CT:C	acceptor_loss	1.0000
X:85306335:T:A	acceptor_loss	1.0000
X:85307157:GTTTA:G	donor_loss	1.0000
X:85307158:TTTAC:T	donor_loss	1.0000
X:85307159:TTAC:T	donor_loss	1.0000
X:85307160:TACC:T	donor_loss	1.0000
X:85307161:ACCTG:A	donor_loss	1.0000
X:85307162:CCTG:C	donor_gain	1.0000
X:85307162:CCTGC:C	donor_loss	1.0000

AlphaMissense

3904 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:85331012:A:G	L264P	0.997
X:85282288:A:G	L560P	0.996
X:85304392:A:G	L506P	0.996
X:85305795:A:G	L478P	0.996
X:85314436:A:G	L318P	0.996
X:85314445:C:G	R315P	0.994
X:85308140:A:G	L345P	0.993
X:85308185:A:G	L330P	0.993
X:85330991:A:G	L271P	0.993
X:85307200:A:G	L376P	0.992
X:85306191:A:G	L436P	0.991
X:85308191:A:G	L328P	0.991
X:85308149:A:G	L342P	0.990
X:85308158:C:G	R339P	0.990
X:85282304:A:C	Y555D	0.989
X:85304350:T:G	Q520P	0.989
X:85308169:A:C	F335L	0.988
X:85308169:A:T	F335L	0.988
X:85308170:A:G	F335S	0.988
X:85308171:A:G	F335L	0.988
X:85308195:A:G	S327P	0.988
X:85331021:A:G	L261P	0.988
X:85331024:A:G	L260S	0.988
X:85282288:A:T	L560H	0.987
X:85282294:A:G	L558P	0.987
X:85282303:T:C	Y555C	0.987
X:85303484:A:G	L524P	0.987
X:85304380:A:G	L510P	0.987
X:85282297:A:G	I557T	0.986
X:85330979:A:G	L275S	0.986

dbSNP variants (sampled 300 via entrez): RS1000092467 (X:85322275 T>C), RS1000162419 (X:85292531 T>C), RS1000173523 (X:85289648 A>G), RS1000297468 (X:85342075 A>C), RS1000319507 (X:85292818 C>T), RS1000352616 (X:85277978 A>G), RS1000360108 (X:85352627 A>C,G), RS1000422423 (X:85353607 A>G,T), RS1000435415 (X:85346268 T>G), RS1000463170 (X:85372147 A>G), RS1000464162 (X:85335996 A>C,G), RS1000551129 (X:85302472 C>T), RS1000557141 (X:85326547 G>T), RS1000560377 (X:85314664 A>G), RS1000602718 (X:85327765 A>C)

Disease associations

OMIM: gene MIM:300603 | disease phenotypes: MIM:300604

GenCC curated gene-disease

Disease	Classification	Inheritance
premature ovarian failure 2B	Moderate	X-linked

Mondo (3): premature menopause (MONDO:0001119), premature ovarian failure 2B (MONDO:0010373), male infertility (MONDO:0005372)

Orphanet (0):

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000164	Abnormality of the dentition
HP:0000786	Primary amenorrhea
HP:0000823	Delayed puberty
HP:0000939	Osteoporosis
HP:0001419	X-linked recessive inheritance
HP:0008209	Premature ovarian insufficiency
HP:0008222	Female infertility
HP:0011462	Young adult onset
HP:0034344	Female-limited expression

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D007248	Infertility, Male	C12.100.500.430; C12.100.750.700; C12.200.294.430
D008594	Menopause, Premature	C12.050.351.500.056.630.250; C12.100.250.056.630.250; G08.686.157.500.500; G08.686.841.249.500.500
C564476	Premature Ovarian Failure 2b (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067405 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.33	Kd	46.55	nM	CHEMBL5653589
7.20	ED50	63.44	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149030: Binding affinity to human POF1B incubated for 45 mins by Kinobead based pull down assay	kd	0.0466	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Estradiol	decreases expression, increases expression, affects cotreatment	2
urushiol	increases expression	1
glycidyl methacrylate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
trichostatin A	increases expression	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, affects response to substance, increases expression	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Air Pollutants	decreases expression	1
Allergens	increases abundance, increases expression, affects cotreatment	1
Vehicle Emissions	affects cotreatment, increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Furaldehyde	increases expression, affects cotreatment, affects localization, decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Methotrexate	decreases expression	1
Silicon Dioxide	decreases expression	1
Sodium Chloride	affects cotreatment, decreases expression, affects localization, increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Palmitic Acid	decreases phosphorylation	1
Copper Sulfate	decreases expression	1
Particulate Matter	affects cotreatment, increases abundance, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652072	Binding	Binding affinity to human POF1B incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

206 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
NCT02202382	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Male Infertility
NCT02204826	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study
NCT03802864	PHASE4	COMPLETED	Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine
NCT06100432	PHASE4	ACTIVE_NOT_RECRUITING	Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males
NCT07523022	PHASE4	ENROLLING_BY_INVITATION	Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00975117	PHASE3	COMPLETED	Spermotrend in the Treatment of Male Infertility
NCT01407432	PHASE3	COMPLETED	Impact of Folates in the Care of the Male Infertility
NCT01895816	PHASE3	COMPLETED	Herbal Tonic Fertile Supplement(ZO2C5)
NCT02605070	PHASE3	TERMINATED	Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia
NCT07402759	PHASE3	ACTIVE_NOT_RECRUITING	Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men
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
NCT01880086	PHASE2	COMPLETED	Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration
NCT02061384	PHASE2	COMPLETED	RA-2 13-cis Retinoic Acid (Isotretinoin)
NCT02421887	PHASE2	COMPLETED	Males, Antioxidants, and Infertility Trial
NCT05200663	PHASE2	UNKNOWN	Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility
NCT05290558	PHASE2	ACTIVE_NOT_RECRUITING	The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial
NCT06091969	PHASE2	NOT_YET_RECRUITING	Supplementation for Male Subfertility
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
NCT01595308	PHASE1	COMPLETED	A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers
NCT02122211	PHASE1	COMPLETED	Choline Dehydrogenase and Sperm Function: Effects of Betaine
NCT02575924	PHASE1	UNKNOWN	Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
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