SOX30

Summary

SOX30 (SRY-box transcription factor 30, HGNC:30635) is a protein-coding gene on chromosome 5q33.3, encoding Transcription factor SOX-30 (O94993). Acts both as a transcriptional activator and a repressor.

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5.

Source: NCBI Gene 11063 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 122 total — 1 likely-pathogenic
• MANE Select transcript: NM_178424

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30635
Approved symbol	SOX30
Name	SRY-box transcription factor 30
Location	5q33.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000039600
Ensembl biotype	protein_coding
OMIM	606698
Entrez	11063

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000265007, ENST00000311371, ENST00000519442, ENST00000868184, ENST00000928400

RefSeq mRNA: 3 — MANE Select: NM_178424 NM_001308165, NM_007017, NM_178424

CCDS: CCDS4339, CCDS4340, CCDS78080

Canonical transcript exons

ENST00000265007 — 5 exons

Exon	Start	End
ENSE00000797253	157648657	157648896
ENSE00000972591	157638230	157638722
ENSE00001234728	157646637	157646816
ENSE00001338664	157651112	157652438
ENSE00003544810	157625679	157626721

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 95.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1024 / max 72.6247, expressed in 15 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64537	0.0375	3
64535	0.0220	12
64538	0.0192	3
64539	0.0120	3
64536	0.0063	4
203770	0.0055	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.76	gold quality
right testis	UBERON:0004534	95.51	gold quality
secondary oocyte	CL:0000655	95.34	gold quality
oocyte	CL:0000023	93.96	gold quality
testis	UBERON:0000473	93.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.34	gold quality
adult organism	UBERON:0007023	73.13	gold quality
sperm	CL:0000019	70.56	gold quality
buccal mucosa cell	CL:0002336	69.53	gold quality
male germ cell	CL:0000015	69.47	gold quality
decidua	UBERON:0002450	56.55	gold quality
mucosa of transverse colon	UBERON:0004991	54.80	gold quality
transverse colon	UBERON:0001157	53.24	gold quality
stromal cell of endometrium	CL:0002255	53.05	silver quality
bone marrow cell	CL:0002092	52.47	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
islet of Langerhans	UBERON:0000006	52.38	gold quality
right uterine tube	UBERON:0001302	51.30	gold quality
rectum	UBERON:0001052	50.42	gold quality
mucosa of urinary bladder	UBERON:0001259	50.40	gold quality
lymph node	UBERON:0000029	50.22	gold quality
epithelial cell of pancreas	CL:0000083	49.29	silver quality
blood vessel layer	UBERON:0004797	49.29	gold quality
oviduct epithelium	UBERON:0004804	49.27	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
fallopian tube	UBERON:0003889	49.15	gold quality
colonic epithelium	UBERON:0000397	49.06	gold quality
pancreatic ductal cell	CL:0002079	48.96	silver quality
quadriceps femoris	UBERON:0001377	48.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.55

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2684.1	SOX30	SOX-related factors

JASPAR matrix evidence (PMIDs): PMID:10359848

miRNA regulators (miRDB)

81 targeting SOX30, 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-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
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

Literature-anchored findings (GeneRIF, showing 11)

• Blockade of p53 attenuates the tumor inhibition of SOX30. (PMID:25435374)
• SOX30 expression represents an important prognostic factor for survival time in lung adenocarcinoma patients. (PMID:26330328)
• these results highlight an important role and mechanism of SOX30 in lung cancer metastasis, providing a potential therapeutic target for anti-metastasis. (PMID:29739711)
• SOX30 acts as a master switch of desmosomal genes, inhibits lung adenocarcinoma cell proliferation, migration and invasion by activating the transcription of desmosomal genes. This study provides novel insights on the regulatory mechanism of desmosomal genes in lung adenocarcinoma. (PMID:29855376)
• SOX30 displays tumor suppressive behavior, warranting future investigations into its therapeutic potential in the treatment of bladder cancer (PMID:29880037)
• MicroRNA-645 represses hepatocellular carcinoma progression by inhibiting SOX30-mediated p53 transcriptional activation (PMID:30312695)
• miR-125b was able to bind to the 3’UTR of SOX30 gene and was negatively associated with SOX30. As compared with the reactive hyperplasia lymphatic samples, the higher (miR-125b) and lower (SOX30) rate was expressed positively in the malignant lymphomas, which was related to the stage and grade of malignancy. (PMID:30358229)
• In early-stage lung adenocarcinoma patients, elevated SOX30 expression inhibits tumor-metastasis, resulting in a favorable prognosis of these patients. (PMID:30514297)
• SOX30 upregulation due to miR-653-5p inhibition restricted the proliferation and invasion of prostate cancer cells, and this was associated with Wnt/ CTNNB1 signaling suppression. (PMID:31889959)
• Correlation of sex-determining region Y-box 30 with tumor characteristics and its prognostic value in breast cancer. (PMID:32157740)
• SOX30 confers a tumor suppressive effect in acute myeloid leukemia through inactivation of Wnt/beta-catenin signaling. (PMID:32334007)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sox30	ENSMUSG00000040489
rattus_norvegicus	Sox30	ENSRNOG00000006098
drosophila_melanogaster	Sox14	FBGN0005612
drosophila_melanogaster	Sox21a	FBGN0036411
caenorhabditis_elegans		WBGENE00015716

Paralogs (20): SOX8 (ENSG00000005513), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX15 (ENSG00000129194), SOX5 (ENSG00000134532), SOX3 (ENSG00000134595), SOX13 (ENSG00000143842), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX7 (ENSG00000171056), SOX11 (ENSG00000176887), SOX12 (ENSG00000177732), CFAP65 (ENSG00000181378), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)

Protein

Protein identifiers

Transcription factor SOX-30 — O94993 (reviewed: O94993)

All UniProt accessions (2): B4DXW7, O94993

UniProt curated annotations — full annotation on UniProt →

Function. Acts both as a transcriptional activator and a repressor. Binds to the DNA sequence 5’-ACAAT-3’ and shows a preference for guanine residues surrounding this core motif. Binds to its own promoter and activates its own transcription. Required to activate the expression of postmeiotic genes involved in spermiogenesis. Binds to the promoter region of CTNNB1 and represses its transcription which leads to inhibition of Wnt signaling. Also inhibits Wnt signaling by binding to the CTNNB1 protein, preventing interaction of CTNNB1 with TCF7L2/TCF4.

Subunit / interactions. Interacts with CTNNB1, competitively inhibiting CTNNB1-TCF7L2/TCF4 interaction.

Subcellular location. Nucleus. Cytoplasm.

Isoforms (2)

UniProt ID	Names	Canonical?
O94993-1	1	yes
O94993-2	2

RefSeq proteins (3): NP_001295094, NP_008948, NP_848511* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR052856	SOX30_TF	Family

Pfam: PF00505

UniProt features (16 total): region of interest 4, helix 3, compositionally biased region 3, splice variant 2, sequence variant 2, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7JJK	X-RAY DIFFRACTION	1.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94993-F1	50.33	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): MODULE_545, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MALE_GAMETE_GENERATION, AAAYRNCTG_UNKNOWN, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_ORGANELLE_MEMBRANE_FUSION, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM

GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), spermatid development (GO:0007286), negative regulation of Wnt signaling pathway (GO:0030178), response to corticosteroid (GO:0031960), positive regulation of transcription by RNA polymerase II (GO:0045944), proacrosomal vesicle fusion (GO:0120211)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), beta-catenin binding (GO:0008013), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), chromocenter (GO:0010369)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
cellular anatomical structure	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of DNA-templated transcription	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
negative regulation of DNA-templated transcription	1
germ cell development	1
spermatid differentiation	1
negative regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
response to steroid hormone	1
positive regulation of DNA-templated transcription	1
acrosome assembly	1
vesicle fusion	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

904 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOX30	DMRT1	Q9Y5R6	593
SOX30	GARIN2	Q8N9W8	528
SOX30	SOX18	P35713	500
SOX30	CCDC54	Q8NEL0	485
SOX30	DMRTC2	Q8IXT2	483
SOX30	TSGA10	Q9BZW7	466
SOX30	THG1L	Q9NWX6	455
SOX30	SUN5	Q8TC36	449
SOX30	C10orf143	A0A1B0GUT2	443
SOX30	SPO11	Q9Y5K1	417
SOX30	TDRD5	Q8NAT2	408
SOX30	FOXL2	P58012	400
SOX30	SYCP3	Q8IZU3	398
SOX30	PRM3	Q9NNZ6	384
SOX30	STRA8	Q7Z7C7	382

IntAct

28 interactions, top by confidence:

A	B	Type	Score
CFAP206	SOX30	psi-mi:“MI:0915”(physical association)	0.670
SOX30	AHCYL1	psi-mi:“MI:0915”(physical association)	0.560
SOX30	FLI1	psi-mi:“MI:0915”(physical association)	0.560
AHCYL1	SOX30	psi-mi:“MI:0915”(physical association)	0.560
FLI1	SOX30	psi-mi:“MI:0915”(physical association)	0.560
SOX30	RPC11	psi-mi:“MI:0915”(physical association)	0.560
RPC11	SOX30	psi-mi:“MI:0915”(physical association)	0.560
SOX30	FHL2	psi-mi:“MI:0915”(physical association)	0.560
SOX30	GNAI3	psi-mi:“MI:0915”(physical association)	0.370
SOX30	GP2	psi-mi:“MI:0915”(physical association)	0.370
KIFC3	SOX30	psi-mi:“MI:0915”(physical association)	0.370
NME1	SOX30	psi-mi:“MI:0915”(physical association)	0.370
SOX30	CUL5	psi-mi:“MI:0915”(physical association)	0.370
SOX30	DCAF4	psi-mi:“MI:0915”(physical association)	0.370
SOX30	DDX56	psi-mi:“MI:0915”(physical association)	0.370
SOX30	FBXO38	psi-mi:“MI:0915”(physical association)	0.370
SOX30	BAMBI	psi-mi:“MI:0915”(physical association)	0.370
TRAF2	SOX30	psi-mi:“MI:0915”(physical association)	0.370
SOX30	NUDT3	psi-mi:“MI:0915”(physical association)	0.370
FHL2	SOX30	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): SOX30 (Two-hybrid), SOX30 (Two-hybrid), C6orf165 (Two-hybrid), BAMBI (Two-hybrid), SOX30 (Two-hybrid), NUDT3 (Two-hybrid), C6orf165 (Two-hybrid), SOX30 (Reconstituted Complex), SOX30 (Two-hybrid), FHL2 (Two-hybrid), SOX30 (Cross-Linking-MS (XL-MS)), SOX30 (Two-hybrid), SOX30 (Two-hybrid), SOX30 (Two-hybrid), SOX30 (Two-hybrid)

ESM2 similar proteins: A2A884, F1QQA8, O08696, O43151, O94993, P08651, P09414, P15822, P17923, P21999, P31629, P55200, Q00900, Q01538, Q03164, Q03172, Q08050, Q08D57, Q12857, Q1LY77, Q2M1Z3, Q3UHF7, Q3UTJ2, Q498L0, Q499E5, Q5DTJ9, Q5SW79, Q5T1R4, Q5ZKH6, Q62255, Q62417, Q66J90, Q69Z38, Q6A065, Q86V15, Q8BG87, Q8C5W0, Q8CFC2, Q8CGW4, Q8CH77

Diamond homologs: A0A0G2JTZ2, A2TED3, A8WWH5, B1H349, B3DM43, O94993, O95416, P27782, P35711, P35712, P36389, P36390, P36393, P36394, P36396, P36402, P40645, P40647, P40656, P57073, P57074, P61259, P70062, P70063, P70064, P91943, Q00417, Q03256, Q04886, Q04892, Q05738, Q10666, Q28447, Q2PG84, Q32PP9, Q5RCU4, Q62563, Q62565, Q67EX7, Q69FB1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	103
Likely benign	10
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
812722	NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)	Likely pathogenic

SpliceAI

855 predictions. Top by Δscore:

Variant	Effect	Δscore
5:157646636:CCAA:C	donor_gain	1.0000
5:157646812:CCAAC:C	acceptor_gain	1.0000
5:157646813:CAACC:C	acceptor_gain	1.0000
5:157648665:T:TA	donor_gain	1.0000
5:157648680:T:TA	donor_gain	1.0000
5:157648894:TGC:T	acceptor_gain	1.0000
5:157648897:C:CA	acceptor_loss	1.0000
5:157648897:C:CC	acceptor_gain	1.0000
5:157626718:TGTA:T	acceptor_gain	0.9900
5:157626722:C:CC	acceptor_gain	0.9900
5:157643748:T:C	acceptor_gain	0.9900
5:157646631:ACT:A	donor_loss	0.9900
5:157646632:C:CG	donor_loss	0.9900
5:157646633:T:TA	donor_loss	0.9900
5:157646635:A:AC	donor_gain	0.9900
5:157646636:C:CC	donor_gain	0.9900
5:157646748:C:CT	acceptor_gain	0.9900
5:157646813:CAAC:C	acceptor_gain	0.9900
5:157646816:CC:C	acceptor_loss	0.9900
5:157646817:CTATA:C	acceptor_loss	0.9900
5:157646818:T:G	acceptor_loss	0.9900
5:157648651:GATTA:G	donor_loss	0.9900
5:157648652:ATTAC:A	donor_loss	0.9900
5:157648653:TTACC:T	donor_loss	0.9900
5:157648654:TA:T	donor_loss	0.9900
5:157648655:A:AC	donor_gain	0.9900
5:157648656:C:CC	donor_gain	0.9900
5:157648893:ATGC:A	acceptor_gain	0.9900
5:157648895:GC:G	acceptor_gain	0.9900
5:157648896:CC:C	acceptor_gain	0.9900

AlphaMissense

4855 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:157646812:C:A	W404C	1.000
5:157646812:C:G	W404C	1.000
5:157646814:A:G	W404R	1.000
5:157646814:A:T	W404R	1.000
5:157648661:A:C	F401L	1.000
5:157648661:A:T	F401L	1.000
5:157648663:A:G	F401L	1.000
5:157648675:G:C	H397D	1.000
5:157648696:C:G	A390P	1.000
5:157648708:A:C	Y386D	1.000
5:157648708:A:G	Y386H	1.000
5:157648715:C:A	K383N	1.000
5:157648715:C:G	K383N	1.000
5:157648731:A:G	L378P	1.000
5:157648739:C:A	W375C	1.000
5:157648739:C:G	W375C	1.000
5:157648740:C:G	W375S	1.000
5:157648741:A:G	W375R	1.000
5:157648741:A:T	W375R	1.000
5:157648749:C:T	G372E	1.000
5:157648750:C:G	G372R	1.000
5:157648750:C:T	G372R	1.000
5:157648752:A:G	L371P	1.000
5:157648752:A:T	L371H	1.000
5:157648760:A:C	S368R	1.000
5:157648760:A:T	S368R	1.000
5:157648762:T:G	S368R	1.000
5:157648764:A:C	I367S	1.000
5:157648764:A:G	I367T	1.000
5:157648772:A:C	N364K	1.000

dbSNP variants (sampled 300 via entrez): RS1000186119 (5:157642634 T>C), RS1000272919 (5:157672241 C>T), RS1000335753 (5:157651555 A>G,T), RS1000436624 (5:157627356 C>T), RS1000485680 (5:157659421 G>C), RS1000496609 (5:157655133 C>A), RS1000524749 (5:157632607 T>C), RS1000563965 (5:157656379 T>G), RS1000705893 (5:157658917 C>G,T), RS1000710261 (5:157650323 A>C,T), RS1000726258 (5:157667664 A>G), RS1000788362 (5:157643877 G>A,T), RS1000833336 (5:157625830 T>C), RS1000870612 (5:157639739 T>C), RS1000874291 (5:157673452 A>G)

Disease associations

OMIM: gene MIM:606698 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): male infertility (MONDO:0005372)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007952_2	Glycated hemoglobin levels	4.000000e-08
GCST009507_8	Triglyceride levels	6.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004541	HbA1c measurement
EFO:0004530	triglyceride measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007248	Infertility, Male	C12.100.500.430; C12.100.750.700; C12.200.294.430

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
pentabromodiphenyl ether	increases expression	1
deguelin	increases expression	1
pifithrin	decreases reaction, increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	increases expression	1
Arsenic Trioxide	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Estradiol	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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
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
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
NCT01304927	PHASE2/PHASE3	COMPLETED	Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial
NCT02349945	PHASE2/PHASE3	COMPLETED	FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy
NCT05222841	PHASE2/PHASE3	COMPLETED	The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility
NCT05616598	PHASE2/PHASE3	COMPLETED	Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters
NCT02025270	PHASE1/PHASE2	COMPLETED	MSCs For Treatment of Azoospermic Patients
NCT04541459	EARLY_PHASE1	UNKNOWN	Validation of New Devices Against Ambient Electromagnetic Radiation
NCT05792813	EARLY_PHASE1	UNKNOWN	Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility
NCT06188936	EARLY_PHASE1	COMPLETED	Home Semen Analysis Tests As a Screening Tool for Fertility Patients
NCT00012480	Not specified	COMPLETED	Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm
NCT00044369	Not specified	COMPLETED	Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists
NCT00178516	Not specified	COMPLETED	Vitamin E and Male Infertility
NCT00315029	Not specified	COMPLETED	Patient-Centered Implementation Trial for Single Embryo Transfer
NCT00341120	Not specified	COMPLETED	Genetic Causes of Male Infertility
NCT00481403	Not specified	COMPLETED	Study of Sperm Molecular Factors Implicated in Male Fertility
NCT00548977	Not specified	COMPLETED	Genetic Studies Spermatogenic Failure
NCT00596739	Not specified	COMPLETED	A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery
NCT00756561	Not specified	COMPLETED	HOP-2A - Intratesticular Hormone Levels
NCT00961558	Not specified	TERMINATED	Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy
NCT01075334	Not specified	UNKNOWN	Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles?
NCT01178463	Not specified	UNKNOWN	Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia