RBMY1A1

Summary

RBMY1A1 (RNA binding motif protein Y-linked family 1 member A1, HGNC:9912) is a protein-coding gene on chromosome Yq11.223, encoding RNA-binding motif protein, Y chromosome, family 1 member A1 (P0DJD3). RNA-binding protein involved in pre-mRNA splicing.

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins.

Source: NCBI Gene 5940 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total — 1 pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_005058

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9912
Approved symbol	RBMY1A1
Name	RNA binding motif protein Y-linked family 1 member A1
Location	Yq11.223
Locus type	gene with protein product
Status	Approved
Aliases	YRRM1, YRRM2
Ensembl gene	ENSG00000234414
Ensembl biotype	protein_coding
OMIM	400006
Entrez	5940

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 nonsense_mediated_decay, 1 protein_coding

ENST00000361046, ENST00000382707

RefSeq mRNA: 3 — MANE Select: NM_005058 NM_001320944, NM_001320945, NM_005058

CCDS: CCDS14796

Canonical transcript exons

ENST00000382707 — 12 exons

Exon	Start	End
ENSE00001661257	21537475	21537578
ENSE00001718460	21536888	21537000
ENSE00001727355	21534879	21535026
ENSE00003536697	21548750	21549326
ENSE00003550118	21547021	21547131
ENSE00003569851	21545924	21546034
ENSE00003633827	21546476	21546586
ENSE00003663549	21548053	21548163
ENSE00003674760	21548250	21548338
ENSE00003715413	21540598	21540775
ENSE00003725962	21542691	21542843
ENSE00003726749	21544854	21544968

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 88.22.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.61	gold quality
testis	UBERON:0000473	77.05	gold quality
right testis	UBERON:0004534	76.92	gold quality
left testis	UBERON:0004533	76.04	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adult mammalian kidney	UBERON:0000082	34.48	gold quality
kidney	UBERON:0002113	33.81	gold quality
cortex of kidney	UBERON:0001225	33.47	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
placenta	UBERON:0001987	32.91	gold quality
metanephros cortex	UBERON:0010533	32.74	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right uterine tube	UBERON:0001302	29.24	gold quality
urinary bladder	UBERON:0001255	29.18	gold quality
liver	UBERON:0002107	29.14	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.97	gold quality
leukocyte	CL:0000738	28.84	gold quality
tonsil	UBERON:0002372	28.71	gold quality
endocervix	UBERON:0000458	28.66	silver quality
ectocervix	UBERON:0012249	28.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting RBMY1A1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-4777-3P	99.15	68.92	626
HSA-MIR-6831-5P	98.26	67.20	990
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-3927-3P	97.68	66.76	892
HSA-MIR-875-5P	96.74	66.48	579

Literature-anchored findings (GeneRIF, showing 15)

• analyse the presence of DAZ, RBMY1, USP9Y, protamine-2, SRY and actin messenger RNA (mRNA) in testicular cells of men suffering from idiopathic azoospermia (RBMY1) (PMID:11869379)
• RBMY is a new candidate oncogene specific for male liver cancer (PMID:15184870)
• RNA transport element RTE evolved as a high affinity RBM15 ligand to provide a splicing-independent link to NXF1, thereby ensuring efficient nuclear export and expression of retrotransposon transcripts (PMID:17001072)
• Using systematic evolution of ligands by exponential enrichment, we found that RNA stem-loops capped by a C(A)/(U)CAA pentaloop are high-affinity binding targets for hRBMY. (PMID:17318228)
• Quantitative real-time PCR assays of this protein gave positive predictive values of 70 per cent for the recovery of sperm from testicular biopsy. (PMID:17453684)
• Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit RBMY1 gene expression. (PMID:17881721)
• germ cell-specific RBMY and hnRNP G-T proteins were more efficient in stimulating TLE4-T incorporation than somatically expressed hnRNP G protein. (PMID:19893608)
• regulates germline-specific splicing events; ectopic expression stimulated the inclusion of a testis-enriched exon (PMID:20016065)
• investigation of role of RBMY in spermatogenesis: isolation and identification of RBMY target mRNAs in testis; RBMY binds to only transcript variant 2 of Nek10; RBMY may take part in alternative splicing of Nek10 (PMID:21422736)
• One possible function of RBMY could be its involvement in sperm motility. (PMID:23385816)
• results imply that different alternative splicing may happen in testis cells and probably difference of RBMY function during spermatogenesis is due to the differential expression of RBMY protein isoforms. (PMID:23567846)
• RBMY is a novel oncofetal protein that plays a key role in attenuating glycogen synthase kinase 3beta activity, leading to aberrant activation of Wnt/beta-catenin signaling, which facilitates malignant hepatic stemness. (PMID:26185016)
• genetic association study in population in southwest China: Data suggest that copy number variation in RBMY1 is associated with sperm motility and asthenozoospermia; RBMY1 functional copy dosage is positively correlated with sperm motility; dosage insufficiency is independent genetic risk factor for asthenozoospermia; RBMY1 is an important candidate for male infertility in azoospermia factor (AZF) region of Y-chromosome. (PMID:28498920)
• Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis. (PMID:32473614)
• PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis. (PMID:36191855)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rbmyf3	ENSMUSG00000091987
mus_musculus	Rbmyf5	ENSMUSG00000093918
mus_musculus	Rbmyf7	ENSMUSG00000093987
mus_musculus	Rbmyf6	ENSMUSG00000094511
mus_musculus	Rbmy	ENSMUSG00000094658
mus_musculus	Rbmyf2	ENSMUSG00000095852
mus_musculus	Rbmyf8	ENSMUSG00000095948
mus_musculus	Rbmyf9	ENSMUSG00000096520
mus_musculus	Rbmyf4	ENSMUSG00000101667
mus_musculus	Rbmyf1	ENSMUSG00000102053
rattus_norvegicus	Rbmy1j	ENSRNOG00000060963

Paralogs (36): DAZAP1 (ENSG00000071626), CIRBP (ENSG00000099622), RBM23 (ENSG00000100461), RBM3 (ENSG00000102317), NCL (ENSG00000115053), TIA1 (ENSG00000116001), HNRNPA2B1 (ENSG00000122566), RBM19 (ENSG00000122965), RBM39 (ENSG00000131051), MSI1 (ENSG00000135097), HNRNPA1 (ENSG00000135486), HNRNPD (ENSG00000138668), HNRNPA1L2 (ENSG00000139675), RBMX (ENSG00000147274), A1CF (ENSG00000148584), TIAL1 (ENSG00000151923), RBM46 (ENSG00000151962), HNRNPDL (ENSG00000152795), MSI2 (ENSG00000153944), RBM47 (ENSG00000163694), RBMY1F (ENSG00000169800), HNRNPA3 (ENSG00000170144), RBMXL2 (ENSG00000170748), RBM4B (ENSG00000173914), RBM4 (ENSG00000173933), RBMXL3 (ENSG00000175718), HNRNPA0 (ENSG00000177733), TRNAU1AP (ENSG00000180098), HNRNPAB (ENSG00000197451), RBMXL1 (ENSG00000213516), HNRNPA1L3 (ENSG00000224578), RBMY1J (ENSG00000226941), RBMY1E (ENSG00000242389), RBMY1B (ENSG00000242875), RBMY1D (ENSG00000244395), DND1 (ENSG00000256453)

Protein

Protein identifiers

RNA-binding motif protein, Y chromosome, family 1 member A1 — P0DJD3 (reviewed: P0DJD3)

Alternative names: RNA-binding motif protein 1, RNA-binding motif protein 2, Y chromosome RNA recognition motif 1

All UniProt accessions (2): P0DJD3, F2Z2U1

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs.

Subunit / interactions. Interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 and KHDRBS3.

Subcellular location. Nucleus.

Tissue specificity. Testis-specific.

Miscellaneous. The RBMY1 proteins are encoded by repeated regions of the Y chromosome, mostly within the AZFb region. The exact number of functional copies is unclear and may vary between individuals, and some of them may represent pseudogenes. The proteins are very similar, which makes the characterization of each protein difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a RBMY1 protein involve all the proteins.

Isoforms (3)

UniProt ID	Names	Canonical?
P0DJD3-1	1	yes
P0DJD3-2	2
P0DJD3-3	3

RefSeq proteins (3): NP_001307873, NP_001307874, NP_005049* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012604	RBM1CTR	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050441	RBM	Family

Pfam: PF00076, PF08081

UniProt features (25 total): compositionally biased region 9, strand 6, splice variant 2, turn 2, helix 2, region of interest 2, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2FY1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DJD3-F1	49.09	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MODULE_112, GOBP_REGULATION_OF_RNA_SPLICING, KAYO_AGING_MUSCLE_DN, GOCC_SPLICEOSOMAL_COMPLEX, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOMF_MRNA_BINDING, GSE13887_HEALTHY_VS_LUPUS_RESTING_CD4_TCELL_UP, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_UP, chrYq11, GOBP_REGULATION_OF_MRNA_PROCESSING, GOBP_MRNA_PROCESSING

GO Biological Process (4): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), RNA splicing (GO:0008380), positive regulation of mRNA splicing, via spliceosome (GO:0048026)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of mRNA splicing, via spliceosome	2
RNA processing	2
binding	2
nuclear lumen	2
alternative mRNA splicing, via spliceosome	1
mRNA metabolic process	1
mRNA splicing, via spliceosome	1
positive regulation of RNA splicing	1
positive regulation of mRNA processing	1
nucleic acid binding	1
RNA binding	1
cellular anatomical structure	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1566 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBMY1A1	USP9Y	O00507	884
RBMY1A1	TSPY1	P09002	880
RBMY1A1	BPY2	O14599	855
RBMY1A1	CDY1	Q9Y6F8	852
RBMY1A1	PRY	O14603	839
RBMY1A1	DDX3Y	O15523	827
RBMY1A1	UTY	O14607	796
RBMY1A1	HSFY1	Q96LI6	769
RBMY1A1	CDY2A	Q9Y6F7	769
RBMY1A1	VCY	O14598	700
RBMY1A1	KHDRBS3	O75525	642
RBMY1A1	ZFY	P08048	636
RBMY1A1	KHDRBS1	Q07666	634
RBMY1A1	KDM5D	Q9BY66	631
RBMY1A1	SRY	Q05066	603

IntAct

51 interactions, top by confidence:

A	B	Type	Score
ZNF317	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.740
RBMY1A1	ZNF317	psi-mi:“MI:0915”(physical association)	0.740
RBM3	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.670
RBMY1A1	LNX1	psi-mi:“MI:0915”(physical association)	0.670
LNX1	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.670
RBMY1A1	RBM3	psi-mi:“MI:0915”(physical association)	0.670
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
PRPF31	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1		psi-mi:“MI:0915”(physical association)	0.560
RBMX	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
CLK3	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
PRR3	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
CIRBP	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1	CBX2	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1	HNRNPK	psi-mi:“MI:0915”(physical association)	0.560
AEN	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
APOBEC3C	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1	PCDHB14	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1	PRPF31	psi-mi:“MI:0915”(physical association)	0.560
	RBMY1A1	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1	RBMX	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (39): RBMY1A1 (Two-hybrid), RBMY1A1 (Two-hybrid), RBMY1A1 (Two-hybrid), RBMY1A1 (Two-hybrid), RBMY1A1 (Two-hybrid), DAAM2 (Two-hybrid), PRPF31 (Two-hybrid), RBMX (Two-hybrid), APOBEC3C (Two-hybrid), PCDHB14 (Two-hybrid), ZNF317 (Two-hybrid), AEN (Two-hybrid), PRR3 (Two-hybrid), LNX1 (Two-hybrid), CBX2 (Two-hybrid)

ESM2 similar proteins: A0A1I8MUL8, A1YFA7, A2T806, A6NDE4, A6NEQ0, E9Q5K9, E9Q784, F4JCU0, O22703, O23372, O35698, O60828, O74418, O75526, P0C7P1, P0DJD3, P0DJD4, P11596, P78332, Q10B98, Q15415, Q1ECZ9, Q23935, Q24669, Q24761, Q2HJC9, Q3MHY8, Q3UC65, Q3URU2, Q3V0C1, Q4PB36, Q4R626, Q4R813, Q4R881, Q5R840, Q5T200, Q5U2S0, Q60990, Q62504, Q80Y39

Diamond homologs: A0A0A0LLY1, A2A5N3, A2VDB3, A5A6M3, A6NDE4, A6NEQ0, D4AE41, F1QB54, F4I3B3, O60176, O64380, O75526, O93235, P0C7P1, P0C8Z4, P0CB38, P0CP46, P0CP47, P0DJD3, P0DJD4, P10979, P11940, P20965, P21187, P29341, P31483, P32588, P38159, P38760, P39684, P49310, P49311, P52912, P60824, P60825, P60826, P61286, P70318, P84586, Q00539

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
870520	GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0	Pathogenic

SpliceAI

1413 predictions. Top by Δscore:

Variant	Effect	Δscore
Y:21536880:A:AG	acceptor_gain	1.0000
Y:21536881:T:G	acceptor_gain	1.0000
Y:21536883:TACA:T	acceptor_loss	1.0000
Y:21536884:ACAG:A	acceptor_loss	1.0000
Y:21536885:C:G	acceptor_gain	1.0000
Y:21536885:CAGC:C	acceptor_loss	1.0000
Y:21536886:A:AC	acceptor_loss	1.0000
Y:21536886:A:AG	acceptor_gain	1.0000
Y:21536887:G:GA	acceptor_gain	1.0000
Y:21536887:GC:G	acceptor_gain	1.0000
Y:21536887:GCA:G	acceptor_gain	1.0000
Y:21536887:GCAC:G	acceptor_gain	1.0000
Y:21536887:GCACA:G	acceptor_gain	1.0000
Y:21536996:AGAAG:A	donor_loss	1.0000
Y:21536997:GAAG:G	donor_gain	1.0000
Y:21537001:G:A	donor_loss	1.0000
Y:21537002:T:G	donor_loss	1.0000
Y:21537473:A:AG	acceptor_gain	1.0000
Y:21537474:G:GG	acceptor_gain	1.0000
Y:21537474:G:GT	acceptor_loss	1.0000
Y:21537474:GT:G	acceptor_gain	1.0000
Y:21537474:GTT:G	acceptor_gain	1.0000
Y:21537474:GTTC:G	acceptor_gain	1.0000
Y:21537474:GTTCT:G	acceptor_gain	1.0000
Y:21537574:GAAAG:G	donor_gain	1.0000
Y:21537576:AAGG:A	donor_loss	1.0000
Y:21537577:AG:A	donor_gain	1.0000
Y:21537577:AGGT:A	donor_loss	1.0000
Y:21537578:GG:G	donor_gain	1.0000
Y:21537578:GGT:G	donor_loss	1.0000

AlphaMissense

3227 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
Y:21537519:T:C	F52L	1.000
Y:21537521:T:A	F52L	1.000
Y:21537521:T:G	F52L	1.000
Y:21536922:T:C	F11L	0.999
Y:21536924:C:A	F11L	0.999
Y:21536924:C:G	F11L	0.999
Y:21536973:T:C	F28L	0.999
Y:21536975:T:A	F28L	0.999
Y:21536975:T:G	F28L	0.999
Y:21537513:T:C	F50L	0.999
Y:21537515:T:A	F50L	0.999
Y:21537515:T:G	F50L	0.999
Y:21537528:T:C	F55L	0.999
Y:21537530:T:A	F55L	0.999
Y:21537530:T:G	F55L	0.999
Y:21536923:T:C	F11S	0.998
Y:21536962:T:A	L24H	0.998
Y:21537520:T:C	F52S	0.998
Y:21537523:T:A	I53N	0.998
Y:21537529:T:C	F55S	0.998
Y:21536926:T:A	I12N	0.997
Y:21536962:T:C	L24P	0.997
Y:21537514:T:C	F50S	0.997
Y:21537517:C:A	A51E	0.997
Y:21536923:T:G	F11C	0.996
Y:21536935:T:A	L15H	0.996
Y:21536974:T:C	F28S	0.996
Y:21536920:T:C	L10P	0.995
Y:21536935:T:C	L15P	0.995
Y:21537481:T:C	L39S	0.995

dbSNP variants (sampled 119 via entrez): RS112466435 (Y:21551738 A>G), RS112528818 (Y:21558312 G>A), RS113197078 (Y:21558221 A>G), RS113200619 (Y:21557500 C>G), RS113348044 (Y:21558512 C>T), RS1170738599 (Y:21532989 TC>T), RS1185538440 (Y:21540775 G>A), RS1199189262 (Y:21548873 G>T), RS1204945436 (Y:21547666 G>C), RS1208191158 (Y:21540759 A>T), RS1211206068 (Y:21540647 T>C), RS1246575731 (Y:21540904 A>G), RS1264692176 (Y:21540767 G>A), RS1271980635 (Y:21540930 A>G), RS1300172720 (Y:21548291 C>G)

Disease associations

OMIM: gene MIM:400006 | disease phenotypes:

GenCC curated gene-disease

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

Orphanet (0):

HPO phenotypes

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

HPO	Term
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000798	Oligozoospermia
HP:0001450	Y-linked inheritance
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011462	Young adult onset
HP:0011961	Non-obstructive azoospermia

GWAS associations

0 associations (top):

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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Temozolomide	increases expression	1
Aflatoxin B1	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
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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
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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
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NCT04541459	EARLY_PHASE1	UNKNOWN	Validation of New Devices Against Ambient Electromagnetic Radiation
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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