TPRN

Summary

TPRN (taperin, HGNC:26894) is a protein-coding gene on chromosome 9q34.3, encoding Taperin (Q4KMQ1). Essential for hearing.

This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness.

Source: NCBI Gene 286262 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 376 total — 17 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 4
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001128228

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26894
Approved symbol	TPRN
Name	taperin
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90254
Ensembl gene	ENSG00000176058
Ensembl biotype	protein_coding
OMIM	613354
Entrez	286262

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000333046, ENST00000409012, ENST00000477345, ENST00000541945, ENST00000961754

RefSeq mRNA: 1 — MANE Select: NM_001128228 NM_001128228

CCDS: CCDS56594

Canonical transcript exons

ENST00000409012 — 4 exons

Exon	Start	End
ENSE00001262833	137192451	137192691
ENSE00001304555	137191619	137192174
ENSE00001584895	137198987	137200741
ENSE00003621623	137192259	137192365

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 97.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1078 / max 158.3252, expressed in 1729 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103329	15.1078	1729

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	97.29	gold quality
body of pancreas	UBERON:0001150	96.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.94	gold quality
cerebellar hemisphere	UBERON:0002245	95.86	gold quality
pancreatic ductal cell	CL:0002079	95.82	silver quality
cerebellar cortex	UBERON:0002129	95.79	gold quality
cerebellum	UBERON:0002037	94.86	gold quality
lower esophagus mucosa	UBERON:0035834	91.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.13	gold quality
metanephros cortex	UBERON:0010533	90.83	gold quality
ileal mucosa	UBERON:0000331	90.09	gold quality
spinal cord	UBERON:0002240	89.90	gold quality
apex of heart	UBERON:0002098	89.60	gold quality
transverse colon	UBERON:0001157	89.19	gold quality
body of stomach	UBERON:0001161	89.10	gold quality
putamen	UBERON:0001874	88.99	gold quality
upper arm skin	UBERON:0004263	88.66	gold quality
right frontal lobe	UBERON:0002810	88.57	gold quality
pancreas	UBERON:0001264	87.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.84	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.55	gold quality
right lobe of liver	UBERON:0001114	87.49	gold quality
substantia nigra	UBERON:0002038	87.49	gold quality
prefrontal cortex	UBERON:0000451	87.42	gold quality
amygdala	UBERON:0001876	87.08	gold quality
pigmented layer of retina	UBERON:0001782	87.02	gold quality
midbrain	UBERON:0001891	86.79	gold quality
small intestine	UBERON:0002108	86.41	gold quality
hypothalamus	UBERON:0001898	86.11	gold quality
caudate nucleus	UBERON:0001873	85.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.02

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals (PMID:20170898)
• Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 (PMID:20170899)
• A Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN. (PMID:23340767)
• Critical role of TPRN rings in the stereocilia for hearing. (PMID:37952086)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tprn	ENSDARG00000101102
mus_musculus	Tprn	ENSMUSG00000048707
rattus_norvegicus	Tprn	ENSRNOG00000010896

Paralogs (1): PPP1R18 (ENSG00000146112)

Protein

Protein identifiers

Taperin — Q4KMQ1 (reviewed: Q4KMQ1)

All UniProt accessions (2): Q4KMQ1, H3BLU1

UniProt curated annotations — full annotation on UniProt →

Function. Essential for hearing. Required for maintenance of stereocilia on both inner and outer hair cells. Necessary for the integrity of the stereociliary rootlet. May act as an actin cytoskeleton regulator involved in the regulation of actin dynamics at the pointed end in hair cells. Forms rings at the base of stereocilia and binds actin filaments in the stereocilia which may stabilize the stereocilia. Acts as a strong inhibitor of PPP1CA phosphatase activity. Recruited to sites of DNA damage and may play a role in DNA damage repair.

Subunit / interactions. Interacts with GRXCR2; the interaction restricts TPRN to the stereocilum basal region. Interacts with actin ACTB; the interaction may stabilize stereocilia. Interacts with CLIC5. Interacts with PTPRQ. TPRN, CLIC5 and PTPQR form concentric rings at the base of stereocilia and may form a complex. Interacts with phosphatase PPP1CA; the interaction results in inhibition of PPC1A phosphatase activity. Interacts with DNA damage response proteins XRCC6/KU70, XRCC5/KU80, PARP1, TOP1 and TOP2A; these interactions recruit TPRN to sites of DNA damage where it may play a role in DNA repair.

Subcellular location. Cell projection. Stereocilium. Microvillus. Nucleus. Nucleoplasm. Cytoplasm.

Tissue specificity. Expression is detected in fetal cochlea.

Disease relevance. Deafness, autosomal recessive, 79 (DFNB79) [MIM:613307] A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the taperin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q4KMQ1-1	1	yes
Q4KMQ1-2	2
Q4KMQ1-3	3
Q4KMQ1-4	4

RefSeq proteins (1): NP_001121700* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025903	Phostensin/Taperin_N_dom	Domain
IPR025907	Phostensin/Taperin_PP1-bd_dom	Domain
IPR026671	PPP1R18/Tprn	Family

Pfam: PF13914, PF13916

UniProt features (27 total): region of interest 7, compositionally biased region 7, modified residue 4, splice variant 4, chain 1, mutagenesis site 1, sequence conflict 1, strand 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6Y9Q	X-RAY DIFFRACTION	1.31

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4KMQ1-F1	55.27	0.02

Functional residue map

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

Post-translational modifications (4): 241, 362, 418, 463

Mutagenesis-validated functional residues (1):

Position	Phenotype
578–580	abolishes interaction with ppp1ca.

Function

Pathways and Gene Ontology

Reactome pathways

2 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

MSigDB gene sets: 111 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_NEUROGENESIS, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EAR_DEVELOPMENT, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_EAR_MORPHOGENESIS, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_AUDITORY_RECEPTOR_CELL_DEVELOPMENT, GOBP_MECHANORECEPTOR_DIFFERENTIATION, GOBP_HAIR_CELL_DIFFERENTIATION, GOBP_SENSORY_PERCEPTION, GOMF_ACTIN_BINDING

GO Biological Process (3): sensory perception of sound (GO:0007605), auditory receptor cell stereocilium organization (GO:0060088), stereocilium maintenance (GO:0120045)

GO Molecular Function (7): actin binding (GO:0003779), protein serine/threonine phosphatase inhibitor activity (GO:0004865), protein phosphatase 1 binding (GO:0008157), protein phosphatase inhibitor activity (GO:0004864), protein binding (GO:0005515), phosphatase binding (GO:0019902), protein phosphatase binding (GO:0019903)

GO Cellular Component (7): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), microvillus (GO:0005902), stereocilium (GO:0032420), stereocilium base (GO:0120044), nucleus (GO:0005634), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Sensory processing of sound	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
inner ear receptor cell stereocilium organization	2
actin-based cell projection	2
sensory perception of mechanical stimulus	1
auditory receptor cell morphogenesis	1
cellular component maintenance	1
cytoskeletal protein binding	1
protein serine/threonine phosphatase activity	1
protein phosphatase inhibitor activity	1
protein phosphatase binding	1
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
binding	1
enzyme binding	1
phosphatase binding	1
nuclear lumen	1
intracellular anatomical structure	1
actin filament bundle	1
stereocilium bundle	1
neuron projection	1
stereocilium	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

736 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TPRN	CLIC5	Q9NZA1	919
TPRN	CLIC6	Q96NY7	849
TPRN	MYO6	Q9UM54	715
TPRN	TRIOBP	Q9H2D6	671
TPRN	GRXCR1	A8MXD5	657
TPRN	GRXCR2	A6NFK2	632
TPRN	TMPRSS3	P57727	629
TPRN	SMPX	Q9UHP9	613
TPRN	CEACAM16	Q2WEN9	611
TPRN	RDX	P35241	610
TPRN	WHRN	Q9P202	598
TPRN	ESPN	B1AK53	598
TPRN	TSPEAR	Q8WU66	595
TPRN	MYO15A	Q9UKN7	593
TPRN	GIPC3	Q8TF64	584

IntAct

63 interactions, top by confidence:

A	B	Type	Score
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
PPP1CA	TPRN	psi-mi:“MI:0915”(physical association)	0.690
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
PPP1CA	CCDC85C	psi-mi:“MI:2364”(proximity)	0.670
PPP1CC	TPRN	psi-mi:“MI:0915”(physical association)	0.550
CLIC4	CLIC2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
TPRN	EPS8	psi-mi:“MI:0915”(physical association)	0.370
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot2	ACTG1	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Chmp4b		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tpm1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DBN1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (95): TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS), TPRN (Affinity Capture-MS)

ESM2 similar proteins: A2A7S8, A2AI08, A5D7K1, B0BN13, O54931, O75128, Q13796, Q2NL68, Q32LQ1, Q3U2K0, Q499V8, Q4KMQ1, Q5JTD0, Q5JXC2, Q5NBX1, Q5RBH3, Q5SW24, Q5SX79, Q5T0Z8, Q5XHX2, Q68DK7, Q6P9J5, Q6PDH0, Q6PDM1, Q6PFX7, Q7TN08, Q7TT28, Q7Z591, Q86WR7, Q8BG26, Q8BI29, Q8BRV5, Q8C5R2, Q8CC35, Q8CCJ4, Q8IVT2, Q8IY92, Q8K124, Q8N3V7, Q8N7J2

Diamond homologs: A2AI08, Q4KMQ1, Q5TM66, Q5XHX2, Q6NYC8, Q767M0, Q8BQ30

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Sensory processing of sound by outer hair cells of the cochlea	5	30.0×	1e-04
Sensory processing of sound by inner hair cells of the cochlea	6	28.8×	2e-05
Diseases of signal transduction by growth factor receptors and second messengers	6	10.0×	1e-03
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	6	5.9×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
actin filament organization	5	12.6×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	6
Uncertain significance	201
Likely benign	98
Benign	17

Top pathogenic / likely-pathogenic (23)

Variant ID	HGVS	Classification
135	NM_001128228.3(TPRN):c.1427del (p.Pro476fs)	Pathogenic
136	NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs)	Pathogenic
137	NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)	Pathogenic
138	NM_001128228.3(TPRN):c.1530del (p.Thr511fs)	Pathogenic
1454097	NM_001128228.3(TPRN):c.1041dup (p.Arg348fs)	Pathogenic
1806299	NM_001128228.3(TPRN):c.943dup (p.Leu315fs)	Pathogenic
1925948	NM_001128228.3(TPRN):c.982C>T (p.Arg328Ter)	Pathogenic
2061517	NM_001128228.3(TPRN):c.543_544insT (p.Pro182fs)	Pathogenic
2831654	NM_001128228.3(TPRN):c.789del (p.Ser264fs)	Pathogenic
3601942	NM_001128228.3(TPRN):c.650del (p.Gly217fs)	Pathogenic
3659574	NM_001128228.3(TPRN):c.440_444dup (p.Arg149fs)	Pathogenic
3701237	NM_001128228.3(TPRN):c.547del (p.Arg183fs)	Pathogenic
3767668	NM_001128228.3(TPRN):c.679del (p.Ala227fs)	Pathogenic
4082578	NM_001128228.3(TPRN):c.1240C>T (p.Gln414Ter)	Pathogenic
4687959	NM_001128228.3(TPRN):c.412del (p.Glu138fs)	Pathogenic
4766672	NM_001128228.3(TPRN):c.473del (p.Pro158fs)	Pathogenic
4796608	NM_001128228.3(TPRN):c.1671del (p.Tyr558fs)	Pathogenic
3069168	NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)	Likely pathogenic
3075856	NM_001128228.3(TPRN):c.440_444del (p.Arg147fs)	Likely pathogenic
3075889	NM_001128228.3(TPRN):c.505_542del (p.Pro169fs)	Likely pathogenic
3780738	NM_001128228.3(TPRN):c.503_521del (p.Arg168fs)	Likely pathogenic
545899	NM_001128228.3(TPRN):c.1964dup (p.Gly656fs)	Likely pathogenic
627484	NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter)	Likely pathogenic

SpliceAI

472 predictions. Top by Δscore:

Variant	Effect	Δscore
9:137192361:CAGGC:C	acceptor_gain	1.0000
9:137192366:C:CA	acceptor_loss	1.0000
9:137192448:CA:C	donor_loss	1.0000
9:137192449:A:AC	donor_gain	1.0000
9:137192450:C:CA	donor_loss	1.0000
9:137192450:C:CC	donor_gain	1.0000
9:137198982:CTGA:C	donor_loss	1.0000
9:137198983:TGA:T	donor_loss	1.0000
9:137198984:GACCT:G	donor_loss	1.0000
9:137198985:ACC:A	donor_loss	1.0000
9:137198986:C:CA	donor_loss	1.0000
9:137192171:TGAG:T	acceptor_gain	0.9900
9:137192175:C:CC	acceptor_gain	0.9900
9:137192288:C:A	donor_gain	0.9900
9:137192363:GGC:G	acceptor_gain	0.9900
9:137192364:GC:G	acceptor_gain	0.9900
9:137192365:CC:C	acceptor_gain	0.9900
9:137192366:C:CC	acceptor_gain	0.9900
9:137192372:A:AC	acceptor_gain	0.9900
9:137192687:TTCAT:T	acceptor_gain	0.9900
9:137192689:CAT:C	acceptor_gain	0.9900
9:137192691:TC:T	acceptor_loss	0.9900
9:137192692:C:CC	acceptor_gain	0.9900
9:137192693:T:A	acceptor_loss	0.9900
9:137198986:CCTT:C	donor_gain	0.9900
9:137192170:GTGAG:G	acceptor_gain	0.9800
9:137192172:GAG:G	acceptor_gain	0.9800
9:137192172:GAGC:G	acceptor_loss	0.9800
9:137192173:AGC:A	acceptor_loss	0.9800
9:137192174:GCTGA:G	acceptor_loss	0.9800

AlphaMissense

4527 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:137192677:G:C	F580L	0.998
9:137192677:G:T	F580L	0.998
9:137192679:A:G	F580L	0.998
9:137192650:A:C	F589L	0.997
9:137192650:A:T	F589L	0.997
9:137192652:A:G	F589L	0.997
9:137192678:A:G	F580S	0.997
9:137192684:A:G	I578T	0.997
9:137200658:C:A	W18C	0.997
9:137200658:C:G	W18C	0.997
9:137200660:A:G	W18R	0.997
9:137200660:A:T	W18R	0.997
9:137192684:A:C	I578S	0.995
9:137199057:A:C	I552S	0.995
9:137192646:A:G	Y591H	0.993
9:137199057:A:T	I552N	0.993
9:137192678:A:C	F580C	0.992
9:137192684:A:T	I578N	0.992
9:137192115:G:C	F711L	0.991
9:137192115:G:T	F711L	0.991
9:137192117:A:G	F711L	0.991
9:137192645:T:C	Y591C	0.991
9:137192646:A:C	Y591D	0.991
9:137199209:G:C	F501L	0.990
9:137199209:G:T	F501L	0.990
9:137199211:A:G	F501L	0.990
9:137192139:G:C	F703L	0.989
9:137192139:G:T	F703L	0.989
9:137192141:A:G	F703L	0.989
9:137192645:T:G	Y591S	0.989

dbSNP variants (sampled 300 via entrez): RS1000547607 (9:137199809 C>A,T), RS1000823805 (9:137193038 G>A), RS1000900912 (9:137196592 A>C), RS1001243306 (9:137198433 A>C), RS1001315133 (9:137196541 T>C), RS1001464268 (9:137194537 T>C), RS1001489180 (9:137202221 G>A), RS1001722145 (9:137193912 A>G), RS1002088534 (9:137192958 TC>T), RS1002782198 (9:137201182 G>A), RS1003072906 (9:137196578 ACT>A), RS1003134562 (9:137193363 T>C), RS1003685821 (9:137193610 G>A), RS1003761407 (9:137191949 GC>G), RS1003953241 (9:137200782 G>A,C,T)

Disease associations

OMIM: gene MIM:613354 | disease phenotypes: MIM:128600, MIM:613307, MIM:220290, MIM:607197

GenCC curated gene-disease

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Definitive	Autosomal recessive
autosomal recessive nonsyndromic hearing loss 79	Definitive	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 (5): ear malformation (MONDO:0007500), autosomal recessive nonsyndromic hearing loss 79 (MONDO:0013215), hearing loss, autosomal recessive (MONDO:0019588), hearing loss disorder (MONDO:0005365), nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (3): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare genetic deafness (Orphanet:96210)

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
HP:0000750	Delayed speech and language development

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001762_849	Obesity-related traits	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004908	testosterone measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
C564609	Deafness, Autosomal Recessive (supp.)
C567651	Deafness, Autosomal Recessive 79 (supp.)
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
pirinixic acid	affects binding, decreases expression, increases activity	1
di-n-butylphosphoric acid	affects expression	1
corosolic acid	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
licochalcone B	increases expression	1
jinfukang	increases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Hydrogen Peroxide	affects expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	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
NCT06431698	Not specified	UNKNOWN	CORRECTION OF EAR DEFORMITIES IN NEWBORNS BY MODELING, COMPARISON OF TWO PROTOCOLS
NCT07154667	Not specified	RECRUITING	Evaluation of the Auryzon™ EAR 2.0 System in Ear Reconstruction
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