STRC

Summary

STRC (stereocilin, HGNC:16035) is a protein-coding gene on chromosome 15q15.3, encoding Stereocilin (Q7RTU9). Essential to the formation of horizontal top connectors between outer hair cell stereocilia.

This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness.

Source: NCBI Gene 161497 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 362 total — 52 pathogenic, 21 likely-pathogenic
• Phenotypes (HPO): 14
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_153700

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16035
Approved symbol	STRC
Name	stereocilin
Location	15q15.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000242866
Ensembl biotype	protein_coding
OMIM	606440
Entrez	161497

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding

ENST00000428650, ENST00000432436, ENST00000440125, ENST00000448437, ENST00000450892, ENST00000455136, ENST00000460952, ENST00000470279, ENST00000471703, ENST00000483250, ENST00000485556, ENST00000493750, ENST00000541030

RefSeq mRNA: 1 — MANE Select: NM_153700 NM_153700

CCDS: CCDS10098

Canonical transcript exons

ENST00000450892 — 29 exons

Exon	Start	End
ENSE00001813311	43618659	43618800
ENSE00002028628	43615433	43616690
ENSE00002064702	43613045	43613231
ENSE00003461187	43617458	43617482
ENSE00003480617	43603242	43603411
ENSE00003487518	43600872	43601014
ENSE00003505790	43610919	43610984
ENSE00003516202	43605264	43605399
ENSE00003522116	43617571	43618356
ENSE00003529745	43599960	43600107
ENSE00003545760	43607863	43607975
ENSE00003551147	43614414	43614476
ENSE00003558152	43600196	43600293
ENSE00003560216	43599563	43599760
ENSE00003579862	43603996	43604152
ENSE00003584623	43611499	43611537
ENSE00003587980	43612791	43612906
ENSE00003607582	43614196	43614312
ENSE00003610789	43604361	43604451
ENSE00003628681	43613887	43614053
ENSE00003644032	43600534	43600682
ENSE00003645107	43612377	43612509
ENSE00003647299	43611148	43611315
ENSE00003653698	43611842	43612024
ENSE00003658587	43610312	43610437
ENSE00003667797	43604650	43604846
ENSE00003668164	43601396	43601551
ENSE00003693078	43609276	43609334
ENSE00003694402	43608080	43608203

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 96.01.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	96.01	gold quality
cerebellar hemisphere	UBERON:0002245	95.76	gold quality
cerebellar cortex	UBERON:0002129	95.57	gold quality
cerebellum	UBERON:0002037	94.13	gold quality
right frontal lobe	UBERON:0002810	84.95	gold quality
right testis	UBERON:0004534	83.37	gold quality
left testis	UBERON:0004533	82.86	gold quality
primary visual cortex	UBERON:0002436	82.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.04	gold quality
middle temporal gyrus	UBERON:0002771	81.89	gold quality
Brodmann (1909) area 23	UBERON:0013554	81.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.50	gold quality
endothelial cell	CL:0000115	79.07	gold quality
testis	UBERON:0000473	78.70	gold quality
anterior cingulate cortex	UBERON:0009835	78.51	gold quality
nucleus accumbens	UBERON:0001882	78.22	gold quality
occipital lobe	UBERON:0002021	77.22	gold quality
brain	UBERON:0000955	76.32	gold quality
upper arm skin	UBERON:0004263	76.27	gold quality
caudate nucleus	UBERON:0001873	76.02	gold quality
neocortex	UBERON:0001950	75.98	gold quality
hypothalamus	UBERON:0001898	75.97	gold quality
frontal cortex	UBERON:0001870	75.73	gold quality
putamen	UBERON:0001874	75.66	gold quality
cerebral cortex	UBERON:0000956	75.33	gold quality
forebrain	UBERON:0001890	74.64	gold quality
epithelium of nasopharynx	UBERON:0001951	74.38	gold quality
pituitary gland	UBERON:0000007	74.19	gold quality
adenohypophysis	UBERON:0002196	73.74	gold quality
superior frontal gyrus	UBERON:0002661	73.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting STRC, 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-5692A	100.00	74.40	6850
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-6868-3P	98.63	69.64	2259

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 19)

• The data suggest that STRC may be a common contributor to NBSNHI among GJB2 mutation negative probands, especially in those with mild to moderate hearing impairment. (PMID:22147502)
• STRC is a major contributor to DFNB16 congenital hearing impairment. (PMID:26011646)
• we hypothesized that the p.Q1353X variation in the STRC gene is the causative mutation for hearing loss. (PMID:26746617)
• Three probands with progressive mild to moderate hearing loss were found among 40 subjects with autosomal recessive non-syndromic hearing loss to segregate homozygous STRC deletions and gene to pseudogene conversion. (PMID:27469136)
• STRC was the second most frequently mutated gene in patients from the Czech Republic with hearing loss (PMID:28984810)
• results provide strong evidence that STRC gene mutations are an important cause of nonsyndromic hearing loss-autosomal recessive in Czech hearing loss patients. (PMID:29425068)
• STRC variants were identified in the members of the family affected with with episodic vertigo and sensorineural hearing loss. (PMID:30250054)
• Frequency and clinical features of hearing loss caused by STRC deletions. (PMID:30867468)
• A novel allele-specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from the STRC transcription start site. (PMID:31218851)
• Moderate sensorineural hearing loss is typical for DFNB16-associated hearing loss and there are no significant differences in audiological phenotypes among different types of mutations affecting STRC [STRC protein, human]. (PMID:31552524)
• [Hearing loss due to mutations or lack of the gene coding protein stereocillin].", trans “Narushenie slukha pri mutatsiyakh ili otsutstvii gena, kodiruyushchego belok stereotsilin. (PMID:32476383)
• Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population. (PMID:32705992)
• Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing. (PMID:32860223)
• Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss. (PMID:34440452)
• Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. (PMID:35022556)
• Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report. (PMID:36526540)
• Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions. (PMID:36764706)
• Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects. (PMID:37890241)
• Dispersed DNA variants underlie hearing loss in South Florida’s minority population. (PMID:37996878)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	strc	ENSDARG00000105391
mus_musculus	Strc	ENSMUSG00000033498
rattus_norvegicus	Strc	ENSRNOG00000014845

Paralogs (3): MSLN (ENSG00000102854), OTOA (ENSG00000155719), MSLNL (ENSG00000162006)

Protein

Protein identifiers

Stereocilin — Q7RTU9 (reviewed: Q7RTU9)

All UniProt accessions (6): E7EPM8, E9PBT5, Q7RTU9, F5GXA4, H7C0F7, H7C2Q6

UniProt curated annotations — full annotation on UniProt →

Function. Essential to the formation of horizontal top connectors between outer hair cell stereocilia.

Subcellular location. Cell surface. Cell projection. Kinocilium. Stereocilium.

Disease relevance. Deafness, autosomal recessive, 16 (DFNB16) [MIM:603720] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. Deafness-infertility syndrome (DIS) [MIM:611102] Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the stereocilin family.

RefSeq proteins (1): NP_714544* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026664	Stereocilin-rel	Family
IPR048992	Stereocilin_LRR	Domain

Pfam: PF21058

UniProt features (17 total): glycosylation site 14, signal peptide 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTU9-F1	69.21	0.18

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (14): 656, 824, 916, 964, 1179, 1274, 65, 202, 297, 366, 427, 476, 540, 565

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea
R-HSA-9659379	Sensory processing of sound
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 112 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, GOCC_CELL_SURFACE, AREB6_01, GOBP_NEUROGENESIS, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EAR_DEVELOPMENT, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_EAR_MORPHOGENESIS, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_AUDITORY_RECEPTOR_CELL_DEVELOPMENT

GO Biological Process (6): cell-matrix adhesion (GO:0007160), intracellular protein localization (GO:0008104), detection of mechanical stimulus involved in sensory perception of sound (GO:0050910), auditory receptor cell stereocilium organization (GO:0060088), sensory perception of sound (GO:0007605), inner ear receptor cell stereocilium organization (GO:0060122)

GO Molecular Function (0):

GO Cellular Component (6): cell surface (GO:0009986), stereocilium tip (GO:0032426), kinocilium (GO:0060091), cilium (GO:0005929), stereocilium (GO:0032420), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory processing of sound	2
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
stereocilium bundle	2
neuron projection	2
cell-substrate adhesion	1
macromolecule localization	1
sensory perception of sound	1
nervous system process	1
detection of mechanical stimulus involved in sensory perception	1
auditory receptor cell morphogenesis	1
inner ear receptor cell stereocilium organization	1
sensory perception of mechanical stimulus	1
neuron projection development	1
inner ear receptor cell development	1
stereocilium	1
radial spoke	1
organelle	1
9+2 non-motile cilium	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
actin-based cell projection	1

Protein interactions and networks

STRING

1150 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STRC	CATSPER2	Q96P56	989
STRC	CKMT1B	P12532	943
STRC	PPIP5K1	Q6PFW1	918
STRC	OTOG	Q6ZRI0	860
STRC	CDAN1	Q8IWY9	803
STRC	OTOGL	Q3ZCN5	774
STRC	MYO15A	Q9UKN7	762
STRC	TMC1	Q8TDI8	760
STRC	PCDH15	Q96QU1	737
STRC	CDH23	Q9H251	736
STRC	OTOF	Q9HC10	721
STRC	GJB2	P29033	720
STRC	ESPN	B1AK53	711
STRC	SLC26A4	O43511	695
STRC	GRXCR2	A6NFK2	687

IntAct

0 interactions, top by confidence:

BioGRID (2): STRC (Two-hybrid), STRC (Co-fractionation)

ESM2 similar proteins: A6NGW2, A6NJZ7, A6NNM3, A6QL48, B2RU40, C9JH25, D4A9R4, F2YMG0, O15287, O94761, P03971, P03972, P0C7N4, P27106, P49000, P49745, P79295, Q17RM4, Q1JPB9, Q3UPH7, Q4TUC0, Q5JYT7, Q5M844, Q6P0A1, Q6PE13, Q7L2K0, Q7M733, Q7RTU9, Q80W87, Q866Y3, Q86YV9, Q8BG26, Q8BLY7, Q8BWG4, Q8C310, Q8CAI1, Q8K262, Q8MII8, Q8N4L8, Q8NEV9

Diamond homologs: A6NGW2, Q7RTU9, Q8K561, Q8VIM6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	52
Likely pathogenic	21
Uncertain significance	196
Likely benign	29
Benign	24

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1065049	NM_153700.2:c.(?3499)(4993_?)del	Pathogenic
1065072	NM_153700.2:c.(?1)(5328_?)del	Pathogenic
1120086	NM_153700.2(STRC):c.2356del (p.Leu786fs)	Pathogenic
1120087	NM_153700.2(STRC):c.461del (p.Pro154fs)	Pathogenic
1299972	NM_153700.2(STRC):c.3601C>T (p.Gln1201Ter)	Pathogenic
1299973	NM_153700.2(STRC):c.3794+1G>A	Pathogenic
1323655	NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter)	Pathogenic
165295	NM_153700.2(STRC):c.(?1)(5328_?)del	Pathogenic
165296	NM_153700.2(STRC):c.(?4702)(4993_?)del	Pathogenic
165297	NM_153700.2(STRC):c.(?3795)(4993_?)del	Pathogenic
165302	NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)	Pathogenic
165310	NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter)	Pathogenic
165315	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	Pathogenic
1687399	NM_153700.2(STRC):c.583C>T (p.Gln195Ter)	Pathogenic
179717	NM_153700.2(STRC):c.3484del (p.Trp1162fs)	Pathogenic
179758	NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)	Pathogenic
180122	NC_000015.10:g.(?43600750)(43603601_?)del	Pathogenic
228400	NC_000015.10:g.(?43600750)(43603344_?)del	Pathogenic
228401	NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter)	Pathogenic
228402	NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)	Pathogenic
228403	NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter)	Pathogenic
236065	15q15.3 deletion	Pathogenic
242391	NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)	Pathogenic
2445651	NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)	Pathogenic
2573346	NC_000015.9:g.(?43891760)(43897598_43900060)del	Pathogenic
2582667	NM_153700.2(STRC):c.3823G>T (p.Glu1275Ter)	Pathogenic
2582668	NM_153700.2(STRC):c.4096G>T (p.Gly1366Ter)	Pathogenic
2582669	NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)	Pathogenic
2582670	NM_153700.2(STRC):c.1030C>T (p.Arg344Ter)	Pathogenic
3075835	NM_153700.2(STRC):c.3606del (p.Ile1203fs)	Pathogenic

SpliceAI

4658 predictions. Top by Δscore:

Variant	Effect	Δscore
15:43600692:A:T	acceptor_gain	1.0000
15:43600879:C:CA	donor_gain	1.0000
15:43600880:C:A	donor_gain	1.0000
15:43600883:A:C	donor_gain	1.0000
15:43600884:C:CC	donor_gain	1.0000
15:43600884:CTG:C	donor_gain	1.0000
15:43601010:CGGAG:C	acceptor_gain	1.0000
15:43601547:CACAA:C	acceptor_gain	1.0000
15:43601549:CAA:C	acceptor_gain	1.0000
15:43601552:C:CC	acceptor_gain	1.0000
15:43603952:C:CA	donor_gain	1.0000
15:43605397:ATCC:A	acceptor_loss	1.0000
15:43605399:CC:C	acceptor_loss	1.0000
15:43605407:A:T	acceptor_gain	1.0000
15:43607861:A:AC	donor_gain	1.0000
15:43607862:C:CC	donor_gain	1.0000
15:43607972:CCCT:C	acceptor_gain	1.0000
15:43607973:CCTC:C	acceptor_gain	1.0000
15:43607974:CT:C	acceptor_gain	1.0000
15:43607987:CAG:C	acceptor_gain	1.0000
15:43608086:C:CA	donor_gain	1.0000
15:43609274:A:AC	donor_gain	1.0000
15:43609275:C:CC	donor_gain	1.0000
15:43609275:CTG:C	donor_gain	1.0000
15:43610462:G:GC	acceptor_gain	1.0000
15:43611864:C:A	donor_gain	1.0000
15:43618655:TTA:T	donor_loss	1.0000
15:43600289:CCCAG:C	acceptor_gain	0.9900
15:43600290:CCAGC:C	acceptor_gain	0.9900
15:43600291:CAG:C	acceptor_gain	0.9900

AlphaMissense

11255 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:43600573:A:G	W1652R	0.997
15:43600573:A:T	W1652R	0.997
15:43600571:C:A	W1652C	0.996
15:43600571:C:G	W1652C	0.996
15:43615433:A:C	S711R	0.996
15:43615433:A:T	S711R	0.996
15:43615435:T:G	S711R	0.996
15:43600589:A:C	F1646L	0.995
15:43600589:A:T	F1646L	0.995
15:43600591:A:G	F1646L	0.995
15:43614239:A:G	F757S	0.995
15:43614465:C:A	W715C	0.995
15:43614465:C:G	W715C	0.995
15:43600944:A:G	L1591P	0.994
15:43603364:A:G	W1475R	0.994
15:43603364:A:T	W1475R	0.994
15:43612885:A:G	W897R	0.994
15:43612885:A:T	W897R	0.994
15:43614460:A:G	L717P	0.994
15:43614467:A:G	W715R	0.994
15:43614467:A:T	W715R	0.994
15:43600678:C:G	A1617P	0.993
15:43614239:A:C	F757C	0.993
15:43613971:A:G	F799S	0.992
15:43615893:C:G	C558S	0.992
15:43615894:A:T	C558S	0.992
15:43601410:A:G	W1563R	0.991
15:43601410:A:T	W1563R	0.991
15:43610326:A:G	W1162R	0.991
15:43610326:A:T	W1162R	0.991

dbSNP variants (sampled 300 via entrez): RS1000048731 (15:43607588 T>C), RS1000112181 (15:43619974 G>A), RS1000263402 (15:43603698 A>C), RS1000544626 (15:43619630 T>C), RS1000649586 (15:43604944 G>A,C), RS1001018510 (15:43605325 T>C), RS1001295559 (15:43602181 G>A), RS1002337775 (15:43617187 A>G), RS1002483104 (15:43612050 G>A), RS1002860568 (15:43614304 C>G), RS1003008871 (15:43606921 A>G), RS1003454356 (15:43608936 C>T), RS1003536692 (15:43606091 C>T), RS1003612295 (15:43601199 G>A), RS1003809594 (15:43620586 G>A)

Disease associations

OMIM: gene MIM:606440 | disease phenotypes: MIM:611102, MIM:603720, MIM:603964, MIM:612997

GenCC curated gene-disease

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Definitive	Autosomal recessive
autosomal recessive nonsyndromic hearing loss 16	Strong	Autosomal recessive
hearing loss, autosomal recessive	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Definitive	AR

Mondo (7): hearing loss disorder (MONDO:0005365), deafness-infertility syndrome (MONDO:0012621), autosomal recessive nonsyndromic hearing loss 16 (MONDO:0011364), autosomal dominant nonsyndromic hearing loss 16 (MONDO:0011389), spermatogenic failure 7 (MONDO:0013070), nonsyndromic genetic hearing loss (MONDO:0019497), hearing loss, autosomal recessive (MONDO:0019588)

Orphanet (6): Rare genetic deafness (Orphanet:96210), Deafness-infertility syndrome (Orphanet:94064), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Non-syndromic male infertility due to sperm motility disorder (Orphanet:276234), Rare non-syndromic genetic deafness (Orphanet:87884), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635)

HPO phenotypes

14 total (14 of 14 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000407	Sensorineural hearing impairment
HP:0000798	Oligozoospermia
HP:0001751	Abnormal vestibular function
HP:0003251	Male infertility
HP:0003577	Congenital onset
HP:0008619	Bilateral sensorineural hearing impairment
HP:0008669	Abnormal spermatogenesis
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0012208	Immotile sperm
HP:0012865	Abnormal sperm head morphology
HP:0012868	Abnormal sperm tail morphology

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004749_37	Lung cancer in ever smokers	7.000000e-06
GCST012232_22	Lipoprotein (a) levels	4.000000e-28

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006925	lipoprotein A measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
C565832	Deafness, Autosomal Dominant 16 (supp.)
C564609	Deafness, Autosomal Recessive (supp.)
C566339	Deafness, Autosomal Recessive 16 (supp.)
C567010	Deafness, Sensorineural, And Male Infertility (supp.)
C580334	Nonsyndromic Deafness (supp.)
C567832	Spermatogenic Failure 7 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression	2
ethyl-p-hydroxybenzoate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Microplastics	decreases expression, increases abundance	1
Niclosamide	increases expression	1
Polystyrenes	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations
NCT00486577	PHASE2/PHASE3	COMPLETED	Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus
NCT00789061	PHASE2/PHASE3	UNKNOWN	Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
NCT01423409	PHASE2/PHASE3	COMPLETED	Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People
NCT05786378	PHASE2/PHASE3	UNKNOWN	Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss.
NCT01108601	PHASE1/PHASE2	UNKNOWN	Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity
NCT01621256	PHASE1/PHASE2	COMPLETED	Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss
NCT06370351	PHASE1/PHASE2	RECRUITING	A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
NCT06545175	PHASE1/PHASE2	RECRUITING	Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma
NCT07304024	PHASE1/PHASE2	RECRUITING	A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound