RPL10L

gene

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Summary

RPL10L (ribosomal protein L10 like, HGNC:17976) is a protein-coding gene on chromosome 14q21.2, encoding Ribosomal protein uL16-like (Q96L21). Testis-specific component of the ribosome, which is required for the transition from prophase to metaphase in male meiosis I.

This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless.

Source: NCBI Gene 140801 — RefSeq curated summary.

At a glance

Gene–disease (curated): oligospermia (Moderate, GenCC) — +2 more curated relationships
GWAS associations: 6
Clinical variants (ClinVar): 53 total — 1 likely-pathogenic
Phenotypes (HPO): 12
MANE Select transcript: NM_080746

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17976
Approved symbol	RPL10L
Name	ribosomal protein L10 like
Location	14q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000165496
Ensembl biotype	protein_coding
OMIM	619655
Entrez	140801

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000298283

RefSeq mRNA: 1 — MANE Select: NM_080746 NM_080746

CCDS: CCDS32071

Canonical transcript exons

ENST00000298283 — 1 exons

Exon	Start	End
ENSE00001634245	46651010	46651781

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 96.10.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1029 / max 80.7442, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143050	0.1029	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.10	gold quality
right testis	UBERON:0004534	95.83	gold quality
sperm	CL:0000019	95.71	gold quality
testis	UBERON:0000473	94.21	gold quality
male germ cell	CL:0000015	94.16	gold quality
adult organism	UBERON:0007023	91.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.22	gold quality
epithelium of nasopharynx	UBERON:0001951	83.37	silver quality
germinal epithelium of ovary	UBERON:0001304	77.50	silver quality
hair follicle	UBERON:0002073	77.50	gold quality
vastus lateralis	UBERON:0001379	74.63	gold quality
diaphragm	UBERON:0001103	74.46	gold quality
quadriceps femoris	UBERON:0001377	74.00	gold quality
mammary duct	UBERON:0001765	73.34	silver quality
periodontal ligament	UBERON:0008266	73.11	silver quality
mucosa of paranasal sinus	UBERON:0005030	71.83	gold quality
oocyte	CL:0000023	71.22	gold quality
superficial temporal artery	UBERON:0001614	70.79	gold quality
endothelial cell	CL:0000115	70.64	gold quality
mucosa of transverse colon	UBERON:0004991	70.34	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	70.26	gold quality
secondary oocyte	CL:0000655	69.14	silver quality
rectum	UBERON:0001052	69.14	gold quality
esophagus squamous epithelium	UBERON:0006920	68.74	gold quality
upper arm skin	UBERON:0004263	68.53	gold quality
epithelium of esophagus	UBERON:0001976	68.46	gold quality
mucosa of urinary bladder	UBERON:0001259	67.60	gold quality
olfactory bulb	UBERON:0002264	67.51	gold quality
synovial joint	UBERON:0002217	67.43	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.34

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

The Cox regression model revealed that only NIP7, RPL10L, and MCM2 exhibited significant correlation with distant recurrence-free survival in liposarcoma in the GSE30929 dataset, and the regression coefficients were -0.676, -0.703, and 0.868, respectively (PMID:30317246)
A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia. (PMID:32111475)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl10	ENSDARG00000025581
mus_musculus	Rpl10l	ENSMUSG00000060499
rattus_norvegicus	Rpl10l	ENSRNOG00000086327
drosophila_melanogaster	RpL10	FBGN0024733
caenorhabditis_elegans		WBGENE00004421

Paralogs (1): RPL10 (ENSG00000147403)

Protein

Protein identifiers

Ribosomal protein uL16-like — Q96L21 (reviewed: Q96L21)

Alternative names: 60S ribosomal protein L10-like, Large ribosomal subunit protein uL16-like

All UniProt accessions (1): Q96L21

UniProt curated annotations — full annotation on UniProt →

Function. Testis-specific component of the ribosome, which is required for the transition from prophase to metaphase in male meiosis I. Compensates for the inactivated X-linked RPL10 paralog during spermatogenesis. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The male germ cell-specific ribosome displays a ribosomal polypeptide exit tunnel of distinct size and charge states compared with the classical ribosome. It is responsible for regulating the biosynthesis and folding of a subset of male germ-cell-specific proteins that are essential for the formation of sperm.

Subunit / interactions. Component of a male germ cell-specific 60S large ribosomal subunit (LSU), which contains RPL10L and RPL39L, instead of RPL10 and RPL39 paralogs. The composition of the rest of the complex is similar to classical ribosomes.

Subcellular location. Cytoplasm.

Tissue specificity. Almost testis-specific. Also expressed in pre- and postmenopausal ovary.

Disease relevance. Spermatogenic failure 63 (SPGF63) [MIM:619689] An autosomal recessive male infertility disorder characterized by severe oligozoospermia and reduced progressive sperm motility. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. This gene has no introns in its coding regions, and therefore was most likely produced by retrotransposition of the original X-linked gene during evolution.

Similarity. Belongs to the universal ribosomal protein uL16 family.

RefSeq proteins (1): NP_542784* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001197	Ribosomal_uL16_euk_arch	Family
IPR016180	Ribosomal_uL16_dom	Domain
IPR018255	Ribosomal_uL16_CS_euk_arc	Conserved_site
IPR036920	Ribosomal_uL16_sf	Homologous_superfamily
IPR047873	Ribosomal_uL16	Family

Pfam: PF00252

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

114 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
9GUL	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
7OW7	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
9QLO	ELECTRON MICROSCOPY	2.47
9P8B	ELECTRON MICROSCOPY	2.48
8JDJ	ELECTRON MICROSCOPY	2.5
8IFE	ELECTRON MICROSCOPY	2.57
9P7D	ELECTRON MICROSCOPY	2.57
9QLQ	ELECTRON MICROSCOPY	2.57
8IFD	ELECTRON MICROSCOPY	2.59
9P7E	ELECTRON MICROSCOPY	2.59
6ZMI	ELECTRON MICROSCOPY	2.6
9P7O	ELECTRON MICROSCOPY	2.65
9P73	ELECTRON MICROSCOPY	2.66
8JDM	ELECTRON MICROSCOPY	2.67
9PA7	ELECTRON MICROSCOPY	2.67
6ZM7	ELECTRON MICROSCOPY	2.7
9P7Y	ELECTRON MICROSCOPY	2.75
9QLP	ELECTRON MICROSCOPY	2.75
9P9I	ELECTRON MICROSCOPY	2.77

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96L21-F1	94.83	0.88

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA

MSigDB gene sets: 129 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_RIBOSOME_ASSEMBLY, GOBP_MALE_GAMETE_GENERATION, GOBP_TRANSLATION, GOBP_ORGANELLE_FISSION, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_MALE_MEIOSIS_I, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (6): ribosomal large subunit assembly (GO:0000027), translation (GO:0006412), male meiosis I (GO:0007141), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), meiotic cell cycle (GO:0051321)

GO Molecular Function (1): structural constituent of ribosome (GO:0003735)

GO Cellular Component (8): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), ribosome (GO:0005840), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
male gamete generation	2
intracellular membrane-bounded organelle	2
cytoplasm	2
protein-RNA complex assembly	1
ribosome assembly	1
ribosomal large subunit biogenesis	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
meiosis I	1
male meiotic nuclear division	1
meiotic cell cycle	1
developmental process involved in reproduction	1
cellular developmental process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
structural molecule activity	1
ribosome	1
endomembrane system	1
intracellular membraneless organelle	1
large ribosomal subunit	1
cytosolic ribosome	1
intracellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

3393 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL10L	RPL39L	Q96EH5	752
RPL10L	RPL3L	Q92901	703
RPL10L	RPL36AL	Q969Q0	642
RPL10L	RPS4Y2	Q8TD47	597
RPL10L	RPL36A	P09896	583
RPL10L	RPL39	P02404	575
RPL10L	RPL22L1	Q6P5R6	573
RPL10L	RPS13	P19116	548
RPL10L	EIF5B	O60841	544
RPL10L	RPL9	P32969	528
RPL10L	RPL3	P39023	509
RPL10L	RPL10A	P52859	506
RPL10L	UBL4B	Q8N7F7	500
RPL10L	RSL24D1	Q9UHA3	496
RPL10L	RPL11	P25121	486

IntAct

28 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
NP	TRIM66	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
PTPN6	RPL35A	psi-mi:“MI:0914”(association)	0.350
GRB7	RIOK3	psi-mi:“MI:0914”(association)	0.350
Stard13	PLOD2	psi-mi:“MI:0914”(association)	0.350
PA	ESYT2	psi-mi:“MI:0914”(association)	0.350
GABARAPL2		psi-mi:“MI:0914”(association)	0.350
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
GABARAP		psi-mi:“MI:0914”(association)	0.350
CALM3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SCRIB	CHD2	psi-mi:“MI:0914”(association)	0.350
FTL		psi-mi:“MI:0914”(association)	0.350
	RPLP0	psi-mi:“MI:0915”(physical association)	0.320
PA2G4	RPL35A	psi-mi:“MI:0915”(physical association)	0.320
MAP3K14	RPL10L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (143): RPL10A (Co-fractionation), RPL10L (Co-fractionation), RPL10L (Co-fractionation), RPL10L (Co-fractionation), RPL10L (Co-fractionation), RPL10L (Co-fractionation), RPL10L (Co-fractionation), RPL10L (Co-fractionation), RPL11 (Co-fractionation), RPL12 (Co-fractionation), RPL15 (Co-fractionation), RPL18 (Co-fractionation), RPL27A (Co-fractionation), RPL36 (Co-fractionation), RPL5 (Co-fractionation)

ESM2 similar proteins: A2YDY2, A4FUH0, G1TG89, G1TSG1, P35268, P42794, P42798, P47198, P48597, P50886, P50894, P52865, P62084, P62244, P62245, P62246, P62495, P62496, P62497, P62498, P67984, P67985, P86048, Q0DK10, Q0VCX5, Q28IL6, Q32L19, Q4R4D3, Q4R5I3, Q5I0R6, Q5NVP9, Q5R4C7, Q5R938, Q5U2Q7, Q6AYU1, Q6P5R6, Q6Q420, Q76I82, Q8BWY3, Q8CJ19

Diamond homologs: A1RT11, A1RXM2, A2BNA6, A2SQE9, A2Y0T4, A2ZCQ7, A3CTT1, A3DM76, A3MXP3, A4FWP5, A4WN05, A4YHV3, A6KYI8, A6USY4, A6VGM6, A8D8X1, A8MDE4, A9AA25, A9CB60, B0R2M5, B1LWT3, B1YDH6, B2RLY5, B6YSL0, B7NZQ2, B8GH15, B9LQR1, C3MRC8, C3MXL7, C3MZG3, C3N7I5, C3NFZ1, C4KIP3, C4XLY0, C5A293, C6A4T2, O22431, O27191, O28930, O58367

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL10L	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	49
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
870124	NM_080746.3(RPL10L):c.257A>C (p.His86Pro)	Likely pathogenic

SpliceAI

132 predictions. Top by Δscore:

Variant	Effect	Δscore
14:46651314:CTTGG:C	acceptor_gain	0.6700
14:46651315:TTGGT:T	acceptor_gain	0.6700
14:46651503:TTTC:T	donor_gain	0.6700
14:46651143:CTTGA:C	donor_gain	0.6000
14:46651318:G:GC	acceptor_gain	0.6000
14:46651392:CATA:C	donor_loss	0.6000
14:46651393:ATAC:A	donor_loss	0.6000
14:46651394:TAC:T	donor_loss	0.6000
14:46651395:ACCT:A	donor_loss	0.6000
14:46651142:A:AC	donor_gain	0.5900
14:46651143:C:CC	donor_gain	0.5900
14:46651391:GCATA:G	donor_loss	0.5900
14:46651310:GAAGC:G	acceptor_gain	0.5800
14:46651150:CCACA:C	donor_gain	0.5400
14:46651397:C:A	donor_loss	0.5400
14:46651318:G:C	acceptor_gain	0.5300
14:46651175:T:TA	donor_gain	0.5000
14:46651285:GCTTC:G	acceptor_gain	0.5000
14:46651315:T:C	acceptor_gain	0.5000
14:46651396:CCTGT:C	donor_gain	0.5000
14:46651214:T:TA	donor_gain	0.4900
14:46651312:AGCTT:A	acceptor_gain	0.4900
14:46651313:GCTTG:G	acceptor_gain	0.4900
14:46651315:T:TC	acceptor_gain	0.4900
14:46651501:CTTT:C	donor_gain	0.4900
14:46651502:TTTT:T	donor_gain	0.4900
14:46651229:T:TA	donor_gain	0.4800
14:46651265:TGA:T	donor_gain	0.4700
14:46651286:C:CA	acceptor_gain	0.4700
14:46651022:A:T	acceptor_gain	0.4600

AlphaMissense

1416 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:46651380:A:C	F119L	0.992
14:46651380:A:T	F119L	0.992
14:46651382:A:G	F119L	0.992
14:46651671:G:C	F22L	0.992
14:46651671:G:T	F22L	0.992
14:46651673:A:G	F22L	0.992
14:46651482:A:C	F85L	0.989
14:46651482:A:T	F85L	0.989
14:46651484:A:G	F85L	0.989
14:46651405:A:T	L111H	0.988
14:46651392:C:A	M115I	0.987
14:46651392:C:G	M115I	0.987
14:46651392:C:T	M115I	0.987
14:46651393:A:G	M115T	0.987
14:46651408:C:A	R110M	0.987
14:46651420:G:T	A106D	0.987
14:46651411:T:A	D109V	0.986
14:46651429:A:G	L103S	0.986
14:46651378:C:T	G120E	0.984
14:46651412:C:G	D109H	0.984
14:46651378:C:A	G120V	0.983
14:46651401:C:A	Q112H	0.982
14:46651401:C:G	Q112H	0.982
14:46651407:C:A	R110S	0.982
14:46651407:C:G	R110S	0.982
14:46651263:C:A	K158N	0.980
14:46651263:C:G	K158N	0.980
14:46651434:C:A	K101N	0.980
14:46651434:C:G	K101N	0.980
14:46651405:A:G	L111P	0.979

dbSNP variants (sampled 300 via entrez): RS1000565258 (14:46652399 G>GA), RS1000679806 (14:46652746 T>G), RS1001844898 (14:46653179 C>G,T), RS1001962411 (14:46653632 G>A), RS1002121484 (14:46652003 A>G), RS1002410173 (14:46652273 G>C), RS1003968056 (14:46651846 C>G), RS1004018970 (14:46651974 C>G,T), RS1004643982 (14:46652330 T>C), RS1004975039 (14:46653394 G>A), RS1005028177 (14:46653750 T>C), RS1006569337 (14:46650701 T>C,G), RS1007987429 (14:46651798 G>A,C,T), RS1008640941 (14:46652474 C>A), RS1009562548 (14:46651229 T>C)

Disease associations

OMIM: gene MIM:619655 | disease phenotypes: MIM:617333, MIM:619689

GenCC curated gene-disease

Disease	Classification	Inheritance
oligospermia	Moderate	Autosomal dominant
spermatogenic failure	Moderate	Autosomal recessive
spermatogenic failure 63	Limited	Unknown

Mondo (5): intellectual developmental disorder with dysmorphic facies and ptosis (MONDO:0015022), prostate cancer (MONDO:0008315), spermatogenic failure 63 (MONDO:0030515), oligospermia (MONDO:0001913), spermatogenic failure (MONDO:0004983)

Orphanet (2): Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome (Orphanet:698090), Familial prostate cancer (Orphanet:1331)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000798	Oligozoospermia
HP:0000837	Increased circulating gonadotropin level
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011462	Young adult onset
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0034011	Reduced progressive sperm motility

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST003123_29	Severe influenza A (H1N1) infection	3.000000e-10
GCST004744_4	Lung adenocarcinoma	3.000000e-06
GCST006310_6	Post bronchodilator FEV1/FVC ratio in smoking	9.000000e-06
GCST011122_2	Walking pace	1.000000e-09
GCST90000015_27	Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio)	9.000000e-06
GCST90012857_14	Falling risk	1.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004713	FEV/FVC ratio
EFO:0600011	Parkinson’s disease symptom measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009845	Oligospermia	C12.100.500.430.508; C12.100.750.700.508; C12.200.294.430.508
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation	3
TAK-243	increases sumoylation	1
perfluorooctanoic acid	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cyclosporine	increases expression	1
Sodium Selenite	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02307994	PHASE4	UNKNOWN	Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH
NCT05320536	PHASE4	UNKNOWN	A Clinical Study of Gulingji Capsule in the Treatment of Idiopathic Oligospermia, Asthenia, and Teratozoospermia
NCT06260007	PHASE4	RECRUITING	Efficacy and Safety Study of Products Based on Tribulus Terrestris, L. in Men With Oligospermia
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function

Associated diseases: spermatogenic failure 63, oligospermia, spermatogenic failure 50
Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): intellectual developmental disorder with dysmorphic facies and ptosis, oligospermia, spermatogenic failure, spermatogenic failure 63