TSPY1

Summary

TSPY1 (testis specific protein Y-linked 1, HGNC:12381) is a protein-coding gene on chromosome Yp11.2, encoding Testis-specific Y-encoded protein 1 (Q01534). May be involved in sperm differentiation and proliferation.

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 7258 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• Phenotypes (HPO): 6
• MANE Select transcript: NM_003308

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12381
Approved symbol	TSPY1
Name	testis specific protein Y-linked 1
Location	Yp11.2
Locus type	gene with protein product
Status	Approved
Aliases	CT78
Ensembl gene	ENSG00000258992
Ensembl biotype	protein_coding
OMIM	480100
Entrez	7258

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000423647, ENST00000451548

RefSeq mRNA: 5 — MANE Select: NM_003308 NM_001197242, NM_001320964, NM_001422080, NM_001422082, NM_003308

CCDS: CCDS48205, CCDS76071

Canonical transcript exons

ENST00000451548 — 6 exons

Exon	Start	End
ENSE00001685809	9466955	9467486
ENSE00001701882	9468300	9468411
ENSE00001706012	9468094	9468171
ENSE00003593931	9469539	9469749
ENSE00003659094	9468765	9468846
ENSE00003717424	9468513	9468658

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 89.15.

Top tissues by expression

129 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	89.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.18	gold quality
right testis	UBERON:0004534	71.72	gold quality
testis	UBERON:0000473	70.29	gold quality
left testis	UBERON:0004533	69.42	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
skeletal muscle tissue	UBERON:0001134	33.38	gold 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
prefrontal cortex	UBERON:0000451	29.04	gold quality
lymph node	UBERON:0000029	28.88	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
leukocyte	CL:0000738	27.20	gold quality
monocyte	CL:0000576	27.16	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.98	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.04	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	26.63
E-ANND-3	no	0.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting TSPY1, 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-335-3P	99.93	73.36	4958
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-6509-5P	97.39	68.27	969
HSA-MIR-4640-3P	94.58	63.02	263

Literature-anchored findings (GeneRIF, showing 40)

• TSPY has been proposed as the gene for the gonadoblastoma locus on the Y chromosome (GBY), and postulated to play certain role in gonadoblastoma, testicular and prostate cancers. (PMID:10090875)
• As a candidate gene for the gonadoblastoma locus on the Y chromosome (GBY), it has been demonstrated to be expressed at high levels in tumor germ cells of this types of tumors and testicular seminomas. (PMID:11173850)
• A transgenic mouse line, TgTSPY9, harboring a complete structural human TSPY gene was generated and the human TSPY gene integrated into the mouse genome follows the human expression pattern. (PMID:12773407)
• Variant forms of TSPY transcripts are detected in human testis and prostate normal and cancer samples. They encode slightly polymorphic proteins harboring the SET/NAP conserved domain. (PMID:14684991)
• A daughter who carried the der Y had the clinical features of Prader-Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism. (PMID:14981720)
• Nested PCR revealed the testis specific protein 1-Y-linked (TSPY) gene in two women with Mayer-Rokitansky-Kuster-Hauser syndrome (PMID:15037423)
• the TSPYL gene in SIDDT affected individuals contained a homozygous frameshift mutation resulting in truncation of translation at codon 169. Truncation leads to loss of a peptide domain with strong homology to the nucleosome assembly protein family. (PMID:15273283)
• TSPY has been used as a marker for identifying germ cells at risk for neoplastic transformation in gonadoblastoma and testicular germ cell tumors. (PMID:15948118)
• TSPY promoter is capable of directing a reporter gene expression in male and female germ cells and neurons of transgenic mice. (PMID:16035036)
• testis-specific expression of human TSPY is mediated by Sox proteins (PMID:16132697)
• phosphorylation of the (T300) residue is dependent on CK2 and is a necessary and functional prerequisite for TSPY’s transport into the nucleus (PMID:16426576)
• TSPY is expressed in germ cell tumors in the brains of male patients. (PMID:16456896)
• The most prominent observation on prostate cancer specimens was a deletion at Yp11.2 containing the TSPY tandem gene array. Out of 36 primary prostate tumors analyzed, 16 (44.4%) samples exhibited loss of TSPY gene copies. (PMID:16618725)
• Ectopic TSPY expression potentiates cell proliferation by mediating a rapid G2/M transition of the cell cycle and promotes tumor growth in nude mice (PMID:16762081)
• TSPY up-regulates pro-growth genes and down-regulates cell cycle inhibitors and apoptotic factors, revealed by microarray analysis. (PMID:16762081)
• data, taken together, have provided important insights on the probable functions of TSPY in cell cycle progression, cell proliferation, and tumorigenesis (PMID:16762081)
• rat Tspy may play critical roles as a histone chaperone during maturation of the elongating spermatids in the rat testis (PMID:16996029)
• The earliest Y signal DYS14 was at 14 days post conceeption. (PMID:17234369)
• possible effect of the copy number of TSPY genes on spermatogenesis (PMID:17509197)
• TSPY, in combination with other markers, could be an important marker for diagnosis and subclassification of testicular germ cell tumors (TGCTs) and support its role in the pathogenesis of both gonadoblastoma and TGCTs. (PMID:17521702)
• Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit TSPY gene expression. (PMID:17881721)
• TSPY and its X-encoded homologue interact with cyclin B but exert contrasting functions on cyclin-dependent kinase 1 activities. (PMID:18591933)
• TSPY could exert its oncogenic function(s) by interacting with eEF1As and stimulating gene expression via its enhancements in protein synthesis and gene transcription (PMID:18649364)
• The chromosomal marker TSPY1 is not responsible for Mullerian aplasia syndrome in a cohort of Finnish patients. (PMID:19324347)
• DYS-14 copy number variations on extracellular fetal DNA is not an optimal marker for differentiation between normal and complicated pregnancies. (PMID:19456250)
• TSPY copy number variation significantly influences spermatogenic efficiency. Low TSPY1 copy number is a new risk factor for male infertility with potential clinical consequences. (PMID:19773397)
• TSPY copy number appears to have no functional consequences for semen quality. (PMID:19917507)
• The expression analysis of genes OCT4, SRY, and TSPY in the dysgenetic gonads of Turner syndrome patients may allow introducing modifications in the microenvironment that could contributed to a malignant transformation process. (PMID:20347080)
• Interphase fluorescence in situ hybridization targeting TSPY1 is a straightforward approach that can be used in the evaluation of Y-associated intersex disorders in women who develop gonadoblastoma. (PMID:20656323)
• Besides its role in mitotic cycle of spermatogonial renewal, TSPY could play significant roles in progression of prophase I and meiotic divisions during spermatogenesis. (PMID:21204751)
• a potential role(s) of TSPY in development and/or physiology of the nervous system (PMID:21621739)
• evaluate TSPY (testis specific protein on the Y chromosome) gene and 5’UTR (UnTranslated Region) polymorphisms in men with impaired fertility compared to fertile controls (PMID:22286816)
• A combined genetic analysis of the TSPY1 copy number and the gr/gr deletion could inform the clinical counselling of infertile couples. (PMID:23307928)
• TSPY could bind directly to the chromatin/DNA at exon 1 of its own gene, and greatly enhance the transcriptional activities of the endogenous gene in LNCaP prostate cancer cells (PMID:24583132)
• Over-expression of Testis-specific Protein Y-encoded 1 is associated with male hepatocellular carcinoma. (PMID:24586606)
• The oncogenic events leading to an ectopic activation of TSPY and/or inactivating mutation/epigenetic silencing of TSPX could collectively contribute to the sexual dimorphism(s) in HCC and related liver cancers in male-biased manners. (PMID:25017435)
• Studies indicate that TSPY1 (testis-specific protein, Y-linked 1) gene has been identified to be the most important candidate gene for gonadoblastoma. (PMID:25297590)
• The aim of this study was to compare two Y chromosome markers-SRY and DYS14-for their utility in the diagnosis of fetal gender. (PMID:26121024)
• TSPY and TSPX exert opposing effects on the transactivation functions of AR and AR-Vs important for various physiological and disease processes sensitive to male sex hormone actions, thereby not only affecting the pathogenesis of male-specific prostate cancer but also likely contributing to sex differences in the health and diseases of man. (PMID:28169398)
• The expression of spermatogenic phenotypes of TSPY1 defects is independent of variations in TSPYL1 and TSPYL5 in the Han Chinese population. (PMID:28847364)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	tspy	ENSDARG00000005015
danio_rerio	nap1l4a	ENSDARG00000070560
drosophila_melanogaster	Set	FBGN0014879
drosophila_melanogaster	Nap1	FBGN0015268
drosophila_melanogaster	CG3708	FBGN0040345
drosophila_melanogaster	mil	FBGN0267366
caenorhabditis_elegans		WBGENE00005007
caenorhabditis_elegans		WBGENE00017075

Paralogs (19): SET (ENSG00000119335), TSPY2 (ENSG00000168757), NAP1L5 (ENSG00000177432), TSPYL6 (ENSG00000178021), TSPYL5 (ENSG00000180543), TSPYL2 (ENSG00000184205), NAP1L3 (ENSG00000186310), NAP1L2 (ENSG00000186462), NAP1L1 (ENSG00000187109), TSPYL4 (ENSG00000187189), TSPYL1 (ENSG00000189241), NAP1L4 (ENSG00000205531), TSPY3 (ENSG00000228927), TSPY8 (ENSG00000229549), SETSIP (ENSG00000230667), TSPY4 (ENSG00000233803), TSPY10 (ENSG00000236424), TSPY9 (ENSG00000238074), (ENSG00000293164)

Protein

Protein identifiers

Testis-specific Y-encoded protein 1 — Q01534 (reviewed: Q01534)

Alternative names: Cancer/testis antigen 78

All UniProt accessions (1): Q01534

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in sperm differentiation and proliferation.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Specifically expressed in testicular tissues. Isoform 1 and isoform 2 are expressed in spermatogonia and spermatocytes. Found in early testicular carcinoma in situ, spermatogonial cells in testicular tissues of 46,X,Y female and in prostate cancer cell lines.

Post-translational modifications. Phosphorylated.

Disease relevance. TSPY is located in the gonadoblastoma critical region and is preferentially expressed in tumor germ cells of gonadoblastoma specimens. Expression also correlates with testicular seminoma and tumorigenesis of the prostate gland.

Induction. Up-regulated by androgen in a prostate cancer cell line.

Polymorphism. Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are shown to be present in a number of TSPY1 copies of the Yp11 loci. Variant Arg-195 is shown to be present at least in one TSPY1 copy of the Yq locus. Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual.

Similarity. Belongs to the nucleosome assembly protein (NAP) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q01534-1	1, Short, TSPY-S	yes
Q01534-2	2, Long, TSPY-L

RefSeq proteins (5): NP_001184171, NP_001307893, NP_001409009, NP_001409011, NP_003299* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002164	NAP	Family
IPR037231	NAP-like_sf	Homologous_superfamily

Pfam: PF00956

UniProt features (9 total): sequence conflict 4, sequence variant 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01534-F1	74.93	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 79 (showing top): GOBP_MALE_GAMETE_GENERATION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MESENCHYME_DEVELOPMENT, CONRAD_GERMLINE_STEM_CELL, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_MESODERM_DEVELOPMENT, GOBP_CHROMATIN_REMODELING, HAMAI_APOPTOSIS_VIA_TRAIL_DN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, GOMF_CHROMATIN_BINDING, BENPORATH_MYC_MAX_TARGETS

GO Biological Process (5): nucleosome assembly (GO:0006334), spermatogenesis (GO:0007283), gonadal mesoderm development (GO:0007506), sex differentiation (GO:0007548), cell differentiation (GO:0030154)

GO Molecular Function (3): chromatin binding (GO:0003682), histone binding (GO:0042393), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	3
binding	2
cellular anatomical structure	2
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
male gamete generation	1
mesoderm development	1
gonad development	1
mesenchyme development	1
cellular developmental process	1
protein binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

13 interactions, top by confidence:

A	B	Type	Score
TSPY1	Eef1a1	psi-mi:“MI:0915”(physical association)	0.580
TSPY1	Eef1a1	psi-mi:“MI:0914”(association)	0.580
TSPY1	Eef1a1	psi-mi:“MI:0403”(colocalization)	0.580
TSPY1	Eef1a2	psi-mi:“MI:0914”(association)	0.430
TSPY1	Eef1a2	psi-mi:“MI:0403”(colocalization)	0.430
TSPY1	E4	psi-mi:“MI:0915”(physical association)	0.370
TSPY1	TSPY1	psi-mi:“MI:0914”(association)	0.350
TSPY1	EEF1A1	psi-mi:“MI:0403”(colocalization)	0.270
EEF1A1	TSPY1	psi-mi:“MI:0403”(colocalization)	0.270

BioGRID (18): TSPYL5 (Two-hybrid), TSPY1 (Affinity Capture-Western), TSPYL5 (Affinity Capture-Western), TSPY1 (Co-localization), USP7 (Affinity Capture-Western), TP53 (Affinity Capture-Western), TSPY1 (Affinity Capture-Western), TSPY3 (Two-hybrid), TSPY10 (Two-hybrid), TSPY3 (Two-hybrid), TSPY10 (Two-hybrid), WDR54 (Affinity Capture-MS), TSPY8 (Affinity Capture-MS), XAF1 (Affinity Capture-MS), TSPY10 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63

Diamond homologs: A0A494C1R9, A2ZX50, A6NKD2, B8AEC1, B8B2R4, B8B4K9, B9FU45, F4JEI8, O19110, O59797, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0DME0, P53997, P78920, Q01105, Q01534, Q0P5N2, Q18240, Q5R5G8, Q5VND6, Q63945, Q69JW2, Q69ZB3, Q70Z17, Q70Z18, Q70Z19, Q7TQI8, Q86VY4, Q8N831, Q8VD63, Q94K07, Q9BE64, Q9CA59, Q9EQU5, Q9H0U9, Q9H2G4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CSNK2A1	“up-regulates activity”	TSPY1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1008 predictions. Top by Δscore:

Variant	Effect	Δscore
Y:9468170:AGGT:A	donor_loss	1.0000
Y:9468171:GG:G	donor_loss	1.0000
Y:9468172:G:GA	donor_loss	1.0000
Y:9468182:G:GT	donor_gain	1.0000
Y:9468289:T:TA	acceptor_gain	1.0000
Y:9468294:T:TA	acceptor_gain	1.0000
Y:9468295:GACA:G	acceptor_loss	1.0000
Y:9468298:AG:A	acceptor_gain	1.0000
Y:9468298:AGGT:A	acceptor_gain	1.0000
Y:9468298:AGGTG:A	acceptor_gain	1.0000
Y:9468299:GG:G	acceptor_gain	1.0000
Y:9468299:GGT:G	acceptor_gain	1.0000
Y:9468299:GGTG:G	acceptor_gain	1.0000
Y:9468299:GGTGG:G	acceptor_gain	1.0000
Y:9468390:G:GT	donor_gain	1.0000
Y:9468511:A:AG	acceptor_gain	1.0000
Y:9468512:G:GG	acceptor_gain	1.0000
Y:9468512:GA:G	acceptor_gain	1.0000
Y:9468512:GAAT:G	acceptor_gain	1.0000
Y:9468512:GAATA:G	acceptor_gain	1.0000
Y:9468538:A:AG	acceptor_gain	1.0000
Y:9468656:GAG:G	donor_gain	1.0000
Y:9468657:AGG:A	donor_loss	1.0000
Y:9468659:G:GG	donor_gain	1.0000
Y:9468659:GTGA:G	donor_loss	1.0000
Y:9468660:T:G	donor_loss	1.0000
Y:9468843:TCAGG:T	donor_loss	1.0000
Y:9468844:CAG:C	donor_loss	1.0000
Y:9468845:AG:A	donor_loss	1.0000
Y:9468846:GG:G	donor_loss	1.0000

AlphaMissense

2025 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
Y:9468389:G:C	K218N	0.998
Y:9468389:G:T	K218N	0.998
Y:9467472:T:C	F158L	0.996
Y:9467474:C:A	F158L	0.996
Y:9467474:C:G	F158L	0.996
Y:9468367:T:C	F211S	0.995
Y:9468545:T:A	W237R	0.994
Y:9468545:T:C	W237R	0.994
Y:9468348:T:C	F205L	0.993
Y:9468350:T:A	F205L	0.993
Y:9468350:T:G	F205L	0.993
Y:9468366:T:C	F211L	0.993
Y:9468368:C:A	F211L	0.993
Y:9468368:C:G	F211L	0.993
Y:9468614:T:A	W260R	0.992
Y:9468614:T:C	W260R	0.992
Y:9468393:T:C	Y220H	0.990
Y:9467473:T:C	F158S	0.989
Y:9468547:G:C	W237C	0.989
Y:9468547:G:T	W237C	0.989
Y:9467475:T:A	W159R	0.988
Y:9467475:T:C	W159R	0.988
Y:9468104:A:G	H166R	0.988
Y:9468136:G:C	D177H	0.988
Y:9468394:A:C	Y220S	0.988
Y:9468606:T:C	F257S	0.988
Y:9468105:C:A	H166Q	0.987
Y:9468105:C:G	H166Q	0.987
Y:9467444:A:C	R148S	0.986
Y:9467444:A:T	R148S	0.986

dbSNP variants (sampled 300 via entrez): RS111894586 (Y:9469752 T>A), RS112317775 (Y:9469787 C>G,T), RS1156283724 (Y:9469163 G>A), RS1157409557 (Y:9468701 C>G), RS1160798595 (Y:9467501 G>A), RS1162780377 (Y:9466073 C>T), RS1163339467 (Y:9468885 G>C), RS1170318332 (Y:9466086 T>A), RS1172453097 (Y:9469603 C>T), RS1172477969 (Y:9466843 T>G), RS1177249826 (Y:9467322 G>T), RS1180930139 (Y:9468694 G>A), RS1183345612 (Y:9466070 A>G), RS1185795405 (Y:9467292 C>T), RS1192052574 (Y:9467370 G>C)

Disease associations

OMIM: gene MIM:480100 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000028	Cryptorchidism
HP:0000798	Oligozoospermia
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011961	Non-obstructive azoospermia

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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