REC8

Summary

REC8 (REC8 meiotic recombination protein, HGNC:16879) is a protein-coding gene on chromosome 14q12, encoding Meiotic recombination protein REC8 homolog (O95072). Required during meiosis for separation of sister chromatids and homologous chromosomes.

This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.

Source: NCBI Gene 9985 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ovarian failure (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 48 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001048205

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16879
Approved symbol	REC8
Name	REC8 meiotic recombination protein
Location	14q12
Locus type	gene with protein product
Status	Approved
Aliases	Rec8p, kleisin-alpha
Ensembl gene	ENSG00000100918
Ensembl biotype	protein_coding
OMIM	608193
Entrez	9985

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 retained_intron, 6 protein_coding, 1 non_stop_decay, 1 protein_coding_CDS_not_defined

ENST00000557806, ENST00000558191, ENST00000558381, ENST00000559797, ENST00000559939, ENST00000560032, ENST00000560501, ENST00000560823, ENST00000611366, ENST00000619111, ENST00000619284, ENST00000619469, ENST00000620473, ENST00000885016, ENST00000885017

RefSeq mRNA: 2 — MANE Select: NM_001048205 NM_001048205, NM_005132

CCDS: CCDS41932

Canonical transcript exons

ENST00000611366 — 19 exons

Exon	Start	End
ENSE00003460640	24173291	24173411
ENSE00003473445	24178606	24178672
ENSE00003479305	24172713	24172781
ENSE00003532762	24179397	24179463
ENSE00003542350	24179085	24179133
ENSE00003610799	24175543	24175624
ENSE00003650760	24178777	24178916
ENSE00003684061	24179595	24179726
ENSE00003714520	24172080	24172608
ENSE00003716797	24177709	24177758
ENSE00003717469	24180010	24180254
ENSE00003717857	24176822	24176901
ENSE00003718136	24172899	24173041
ENSE00003719373	24177465	24177541
ENSE00003721780	24178091	24178222
ENSE00003725227	24177353	24177383
ENSE00003735819	24173126	24173198
ENSE00003740164	24177141	24177222
ENSE00003742320	24179800	24179906

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.32.

FANTOM5 (CAGE): breadth broad, TPM avg 19.1912 / max 409.1467, expressed in 790 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139001	15.5753	756
139000	2.5923	581
139002	0.8621	321
139003	0.1615	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	98.32	gold quality
pituitary gland	UBERON:0000007	98.29	gold quality
ganglionic eminence	UBERON:0004023	96.68	gold quality
right uterine tube	UBERON:0001302	96.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.61	gold quality
cerebellar hemisphere	UBERON:0002245	96.23	gold quality
cerebellar cortex	UBERON:0002129	96.20	gold quality
cerebellum	UBERON:0002037	96.15	gold quality
ventricular zone	UBERON:0003053	94.82	gold quality
cortical plate	UBERON:0005343	94.02	gold quality
bone marrow	UBERON:0002371	93.97	gold quality
gall bladder	UBERON:0002110	93.78	gold quality
body of stomach	UBERON:0001161	93.67	gold quality
right testis	UBERON:0004534	93.30	gold quality
bone marrow cell	CL:0002092	93.13	gold quality
left testis	UBERON:0004533	93.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.97	gold quality
spleen	UBERON:0002106	92.68	gold quality
testis	UBERON:0000473	92.44	gold quality
metanephros cortex	UBERON:0010533	92.32	gold quality
stomach	UBERON:0000945	92.05	gold quality
granulocyte	CL:0000094	91.84	gold quality
fundus of stomach	UBERON:0001160	91.59	gold quality
fallopian tube	UBERON:0003889	91.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.27	gold quality
hypothalamus	UBERON:0001898	91.19	gold quality
sural nerve	UBERON:0015488	90.72	gold quality
upper lobe of left lung	UBERON:0008952	90.69	gold quality
blood	UBERON:0000178	90.56	gold quality
right lung	UBERON:0002167	90.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting REC8, 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-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813

Literature-anchored findings (GeneRIF, showing 13)

• The mouse ortholog of REC8L1 is required for proper synapsis of homologous chromosomes during meiosis (PMID:15935783)
• Indicate that polymorphisms of the Rec 8 gene are not a common cause of severe male factor infertility. (PMID:18570052)
• Data show that REC8 is constitutively expressed in tumour cells, along with SGOL1 and SGOL2, and that REC8 becomes modified after irradiation. (PMID:19463812)
• REC8 being a novel major bona fide tumor suppressor gene and a robust epigenetic target of the PI3K pathway. Aberrant inactivation of REC8 through hypermethylation by the PI3K pathway may represent an important mechanism mediating the oncogenic functions of the PI3K pathway (PMID:26472282)
• Study confirmed that REC8 was downregulated in gastric neoplasm, especially in the EBV-associated subtype, via promoter methylation. (PMID:27212034)
• we determined that REC8 interacted with EGR1, and inhibited EMT in gastric cancer cells. We thus propose further studies of the pathways associated with REC8 and EGR1 to potentially find novel targets in the treatment for gastric cancer. (PMID:29393474)
• Rec8-Stag3 cohesin is shown to be susceptible to Wapl-dependent ring opening and sororin-mediated protection. (PMID:29724914)
• REC8 suppresses tumor angiogenesis by inhibition of NF-kappaB-mediated vascular endothelial growth factor expression in gastric cancer cells. (PMID:32958054)
• Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8. (PMID:33658710)
• REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma. (PMID:33677646)
• Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. (PMID:34707299)
• REC8 inhibits proliferation, migration and invasion of breast cancer cells by targeting CDC20. (PMID:35616161)
• REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling. (PMID:38105365)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rec8b	ENSDARG00000069260
danio_rerio	rec8a	ENSDARG00000078329
mus_musculus	Rec8	ENSMUSG00000002324
rattus_norvegicus	Rec8	ENSRNOG00000019503
drosophila_melanogaster	vtd	FBGN0260987

Paralogs (2): RAD21 (ENSG00000164754), RAD21L1 (ENSG00000244588)

Protein

Protein identifiers

Meiotic recombination protein REC8 homolog — O95072 (reviewed: O95072)

Alternative names: Cohesin Rec8p

All UniProt accessions (4): O95072, A0A075B715, H0YM87, H0YMV7

UniProt curated annotations — full annotation on UniProt →

Function. Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II.

Subunit / interactions. Interacts (phosphorylated and unphosphorylated form) with SMC3. Interacts with SYCP3. Interacts (phosphorylated and unphosphorylated form) with SMC1B. Does not interact with SMC1A. Interacts with RAD51. Forms a complex with EWSR1, PRDM9, SYCP3 and SYCP1; complex formation is dependent of phosphorylated form of REC8 and requires PRDM9 bound to hotspot DNA; EWSR1 joins PRDM9 with the chromosomal axis through REC8.

Subcellular location. Nucleus. Chromosome. Centromere.

Tissue specificity. Expressed in testis and thymus. Expressed in the B-cell lines WI-L2-NS and Namalwa (at protein level).

Post-translational modifications. Phosphorylated.

Similarity. Belongs to the rad21 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95072-1	1	yes
O95072-2	2

RefSeq proteins (2): NP_001041670, NP_005123 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006909	Rad21/Rec8_C_eu	Domain
IPR006910	Rad21_Rec8_N	Domain
IPR023093	ScpA-like_C	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR039781	Rad21/Rec8-like	Family

Pfam: PF04824, PF04825

UniProt features (12 total): sequence conflict 4, sequence variant 3, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95072-F1	65.16	0.16

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): 148

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1221632	Meiotic synapsis

MSigDB gene sets: 188 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_CHROMOSOME_ORGANIZATION, REACTOME_MEIOTIC_SYNAPSIS, GOBP_OOGENESIS, GOBP_MALE_GAMETE_GENERATION, chr14q12, GOBP_SYNAPTONEMAL_COMPLEX_ORGANIZATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_ORGANELLE_FISSION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CELL_MATURATION

GO Biological Process (15): double-strand break repair via homologous recombination (GO:0000724), oocyte maturation (GO:0001556), double-strand break repair (GO:0006302), sister chromatid cohesion (GO:0007062), synaptonemal complex assembly (GO:0007130), reciprocal meiotic recombination (GO:0007131), male meiosis I (GO:0007141), spermatogenesis (GO:0007283), spermatid development (GO:0007286), fertilization (GO:0009566), meiotic sister chromatid cohesion (GO:0051177), meiotic cell cycle (GO:0051321), seminiferous tubule development (GO:0072520), chromosome segregation (GO:0007059), homologous chromosome pairing at meiosis (GO:0007129)

GO Molecular Function (2): chromatin binding (GO:0003682), protein binding (GO:0005515)

GO Cellular Component (12): kinetochore (GO:0000776), lateral element (GO:0000800), male germ cell nucleus (GO:0001673), nucleus (GO:0005634), meiotic cohesin complex (GO:0030893), chromosome, centromeric region (GO:0000775), condensed chromosome, centromeric region (GO:0000779), condensed chromosome (GO:0000793), condensed nuclear chromosome (GO:0000794), synaptonemal complex (GO:0000795), chromosome (GO:0005694), cohesin complex (GO:0008278)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Meiosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	2
cell cycle process	2
chromosome organization involved in meiotic cell cycle	2
meiosis I	2
male gamete generation	2
sexual reproduction	2
reproductive process	2
binding	2
intracellular membraneless organelle	2
condensed chromosome	2
chromosome	2
recombinational repair	1
double-strand break repair	1
cell maturation	1
oocyte development	1
DNA repair	1
chromosome organization	1
homologous chromosome pairing at meiosis	1
cellular component assembly	1
synaptonemal complex organization	1
reciprocal homologous recombination	1
meiotic cell cycle process	1
male meiotic nuclear division	1
meiotic cell cycle	1
germ cell development	1
spermatid differentiation	1
sister chromatid cohesion	1
cell cycle	1
meiotic nuclear division	1
male gonad development	1
tube development	1
reproductive structure development	1
homologous chromosome segregation	1
condensed chromosome, centromeric region	1
supramolecular complex	1
synaptonemal complex	1
cellular anatomical structure	1
germ cell nucleus	1
intracellular membrane-bounded organelle	1
cohesin complex	1

Protein interactions and networks

STRING

2380 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
REC8	STAG3	Q9UJ98	998
REC8	SMC1B	Q8NDV3	996
REC8	SMC3	Q9UQE7	996
REC8	SGO2	Q562F6	957
REC8	SMC1A	Q14683	955
REC8	STAG1	Q8WVM7	946
REC8	RAD21L1	Q9H4I0	941
REC8	PDS5A	Q29RF7	936
REC8	STAG2	Q8N3U4	926
REC8	SGO1	Q5FBB7	918
REC8	ESPL1	Q14674	907
REC8	SPO11	Q9Y5K1	907
REC8	HORMAD1	Q86X24	838
REC8	SYCP3	Q8IZU3	819
REC8	SYCP1	Q15431	814

IntAct

17 interactions, top by confidence:

A	B	Type	Score
REC8	BAG2	psi-mi:“MI:0915”(physical association)	0.560
STUB1	REC8	psi-mi:“MI:0915”(physical association)	0.560
MLF1	REC8	psi-mi:“MI:0915”(physical association)	0.400
REC8	Hacd3	psi-mi:“MI:0915”(physical association)	0.400
REC8	MLF2	psi-mi:“MI:0915”(physical association)	0.400
PSMD2	REC8	psi-mi:“MI:0915”(physical association)	0.400
SGTA	REC8	psi-mi:“MI:0915”(physical association)	0.400
	REC8	psi-mi:“MI:0915”(physical association)	0.400
STIP1	REC8	psi-mi:“MI:0915”(physical association)	0.400
REC8	CACYBP	psi-mi:“MI:0915”(physical association)	0.400
AARSD1	REC8	psi-mi:“MI:0915”(physical association)	0.400
CFDP1	REC8	psi-mi:“MI:0914”(association)	0.350
REC8	HAX1	psi-mi:“MI:0914”(association)	0.350
REC8	RAD21	psi-mi:“MI:0914”(association)	0.350
REC8	PRORP	psi-mi:“MI:0914”(association)	0.350

BioGRID (47): SMC1B (Affinity Capture-Western), FANCA (Affinity Capture-Luminescence), SMC3 (Affinity Capture-Western), SYCP3 (Affinity Capture-Western), REC8 (Affinity Capture-Western), REC8 (Positive Genetic), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), REC8 (Affinity Capture-MS), ISY1 (Affinity Capture-MS)

ESM2 similar proteins: A0JN53, A7MCY6, B0BMZ6, B5DF93, D3ZND0, G3X992, O13067, O60216, O93310, O95072, P18302, P98152, Q07266, Q0QWG9, Q15003, Q16643, Q28GV1, Q2YD98, Q3SWX9, Q3SZL8, Q3TC46, Q499E4, Q4V8I2, Q58DJ0, Q5JTD0, Q5R8Q4, Q5R8S0, Q5XIA0, Q61550, Q641G4, Q6AYG1, Q6AYJ4, Q6DG50, Q6IBW4, Q6NZQ0, Q6TEL1, Q7Z465, Q86TB9, Q8BSP2, Q8C156

Diamond homologs: A2AU37, D2HSB3, O60216, O93310, O95072, P30776, Q12158, Q3SWX9, Q61550, Q6TEL1, Q8W1Y0, Q9FQ19, Q9FQ20, Q9H4I0, Q9S7T7, Q6AYJ4, Q8C5S7, P36626, Q19325

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	21
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1328952	NM_001048205.2(REC8):c.860_861del (p.Pro287fs)	Pathogenic
1214013	NM_001048205.2(REC8):c.1035_1036dup (p.Ala346fs)	Likely pathogenic
1214014	NM_001048205.2(REC8):c.624+1G>A	Likely pathogenic

SpliceAI

2554 predictions. Top by Δscore:

Variant	Effect	Δscore
14:24172782:G:GG	donor_gain	1.0000
14:24172783:T:G	donor_loss	1.0000
14:24172897:A:AG	acceptor_gain	1.0000
14:24172898:G:GG	acceptor_gain	1.0000
14:24172898:GC:G	acceptor_gain	1.0000
14:24173117:T:A	acceptor_gain	1.0000
14:24173124:A:AG	acceptor_gain	1.0000
14:24173125:G:GG	acceptor_gain	1.0000
14:24173183:A:G	donor_gain	1.0000
14:24173194:GAGCT:G	donor_gain	1.0000
14:24173195:AGCT:A	donor_gain	1.0000
14:24173196:GCT:G	donor_gain	1.0000
14:24173196:GCTG:G	donor_gain	1.0000
14:24173197:CT:C	donor_gain	1.0000
14:24173197:CTGT:C	donor_loss	1.0000
14:24173198:TGTG:T	donor_loss	1.0000
14:24173199:G:GC	donor_loss	1.0000
14:24173199:G:GG	donor_gain	1.0000
14:24173200:TGAG:T	donor_loss	1.0000
14:24173201:GAGT:G	donor_loss	1.0000
14:24173407:CTCAG:C	donor_loss	1.0000
14:24173408:TCAG:T	donor_loss	1.0000
14:24173409:CAG:C	donor_loss	1.0000
14:24173410:AGG:A	donor_loss	1.0000
14:24173411:GG:G	donor_loss	1.0000
14:24173412:GT:G	donor_loss	1.0000
14:24173413:T:A	donor_loss	1.0000
14:24175528:A:AG	acceptor_gain	1.0000
14:24175529:A:G	acceptor_gain	1.0000
14:24175540:A:G	acceptor_gain	1.0000

AlphaMissense

3502 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:24172991:T:C	L73P	1.000
14:24172999:G:C	G76R	0.999
14:24172556:T:C	F2L	0.998
14:24172558:C:A	F2L	0.998
14:24172558:C:G	F2L	0.998
14:24172607:T:A	W19R	0.998
14:24172607:T:C	W19R	0.998
14:24172967:T:C	F65S	0.998
14:24172979:T:C	L69P	0.998
14:24172991:T:A	L73H	0.998
14:24173000:G:A	G76D	0.998
14:24173012:T:A	V80D	0.998
14:24172596:T:C	F15S	0.997
14:24172715:T:C	L20P	0.997
14:24172720:G:C	A22P	0.997
14:24172984:G:C	A71P	0.997
14:24172985:C:A	A71D	0.997
14:24173000:G:T	G76V	0.997
14:24173036:T:C	L88P	0.997
14:24172975:T:G	Y68D	0.996
14:24172999:G:T	G76C	0.996
14:24172575:T:A	L8H	0.995
14:24172595:T:C	F15L	0.995
14:24172597:T:A	F15L	0.995
14:24172597:T:G	F15L	0.995
14:24172713:G:C	W19C	0.995
14:24172713:G:T	W19C	0.995
14:24172721:C:A	A22E	0.995
14:24172746:G:C	K30N	0.995
14:24172746:G:T	K30N	0.995

dbSNP variants (sampled 300 via entrez): RS1000002146 (14:24176014 A>C,G), RS1000245282 (14:24170289 T>A,C), RS1001060945 (14:24171409 G>C), RS1001168914 (14:24174537 C>T), RS1001530873 (14:24176501 A>G), RS1001631235 (14:24180429 T>C), RS1001958948 (14:24176254 GC>G), RS1001965077 (14:24178817 T>C), RS1002563293 (14:24177520 G>A), RS1003647572 (14:24172030 A>C,G), RS1003864552 (14:24172261 C>G,T), RS1003913146 (14:24175906 T>A), RS1004306494 (14:24178204 A>G), RS1004454918 (14:24172101 C>A,G,T), RS1004506819 (14:24172420 C>A)

Disease associations

OMIM: gene MIM:608193 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ovarian failure	Moderate	Autosomal recessive

Mondo (3): premature menopause (MONDO:0001119), azoospermia (MONDO:0100459), 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

1 associations (top):

Study	Trait	p-value
GCST009391_2039	Metabolite levels	4.000000e-06

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D053713	Azoospermia	C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380
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
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	4
entinostat	decreases expression, affects cotreatment	2
Air Pollutants	affects methylation, increases abundance, affects expression	2
Nickel	increases expression	2
Tretinoin	increases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation, affects cotreatment	1
tris(2-butoxyethyl) phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects 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, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Decitabine	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Mustard Gas	increases expression	1
Nitrogen Dioxide	affects methylation, increases abundance	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2PS	Abcam A-549 REC8 KO	Cancer cell line	Male

Clinical trials (associated diseases)

109 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
NCT02307994	PHASE4	UNKNOWN	Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT02275169	PHASE3	UNKNOWN	FSH Treatment for Non-obstructive Azoospermic Patients
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
NCT02544191	PHASE2	UNKNOWN	GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia
NCT03762967	PHASE2	UNKNOWN	Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility
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