SMPX
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Also known as DFNX4ChiselCsl
Summary
SMPX (small muscle protein X-linked, HGNC:11122) is a protein-coding gene on chromosome Xp22.12, encoding Small muscular protein (Q9UHP9). Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.
This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 23676 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +3 more curated relationships
- Clinical variants (ClinVar): 105 total — 16 pathogenic, 7 likely-pathogenic
- Phenotypes (HPO): 22
- MANE Select transcript:
NM_014332
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11122 |
| Approved symbol | SMPX |
| Name | small muscle protein X-linked |
| Location | Xp22.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DFNX4, Chisel, Csl |
| Ensembl gene | ENSG00000091482 |
| Ensembl biotype | protein_coding |
| OMIM | 300226 |
| Entrez | 23676 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay
ENST00000379494, ENST00000494525, ENST00000646008, ENST00000867835, ENST00000867836, ENST00000867837, ENST00000867838, ENST00000941554
RefSeq mRNA: 1 — MANE Select: NM_014332
NM_014332
CCDS: CCDS14200
Canonical transcript exons
ENST00000379494 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003466717 | 21737549 | 21737697 |
| ENSE00003605877 | 21743750 | 21743836 |
| ENSE00003817292 | 21754246 | 21754302 |
| ENSE00003817725 | 21757942 | 21758116 |
| ENSE00003844136 | 21705978 | 21706394 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 99.81.
FANTOM5 (CAGE): breadth broad, TPM avg 5.2022 / max 724.3427, expressed in 211 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198701 | 2.2210 | 159 |
| 198698 | 1.3534 | 89 |
| 198699 | 1.0053 | 101 |
| 198700 | 0.4304 | 84 |
| 198702 | 0.1124 | 45 |
| 198703 | 0.0798 | 43 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.81 | gold quality |
| biceps brachii | UBERON:0001507 | 99.78 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.73 | gold quality |
| triceps brachii | UBERON:0001509 | 99.71 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.70 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.49 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.49 | gold quality |
| myocardium | UBERON:0002349 | 99.44 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.39 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.36 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.36 | gold quality |
| body of tongue | UBERON:0011876 | 99.34 | gold quality |
| diaphragm | UBERON:0001103 | 99.31 | gold quality |
| deltoid | UBERON:0001476 | 99.29 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.29 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.27 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.25 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.18 | gold quality |
| apex of heart | UBERON:0002098 | 99.11 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.05 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.05 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.04 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.85 | gold quality |
| muscle organ | UBERON:0001630 | 98.29 | gold quality |
| vena cava | UBERON:0004087 | 98.02 | gold quality |
| muscle of leg | UBERON:0001383 | 97.85 | gold quality |
| muscle tissue | UBERON:0002385 | 96.24 | gold quality |
| heart | UBERON:0000948 | 95.21 | gold quality |
| tongue | UBERON:0001723 | 90.55 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
71 targeting SMPX, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 13)
- Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function. (PMID:21549336)
- This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes. (PMID:21549342)
- Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations. (PMID:21893181)
- Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families. (PMID:22911656)
- Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4. (PMID:24687041)
- SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei. (PMID:24936977)
- Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation. (PMID:27181368)
- A novel frameshift mutation in SMPX. (PMID:28542515)
- We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss (PMID:29287879)
- detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene (PMID:29559740)
- A donor splice-site variant in SMPX causes rare X-linked congenital deafness. (PMID:31478598)
- In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene. (PMID:31583691)
- Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. (PMID:33974137)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | smpx | ENSDARG00000045302 |
| mus_musculus | Smpx | ENSMUSG00000041476 |
| rattus_norvegicus | Smpx | ENSRNOG00000007495 |
Protein
Protein identifiers
Small muscular protein — Q9UHP9 (reviewed: Q9UHP9)
Alternative names: Stretch-responsive skeletal muscle protein
All UniProt accessions (1): Q9UHP9
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.
Tissue specificity. Preferentially and abundantly expressed in heart and skeletal muscle.
Disease relevance. Deafness, X-linked, 4 (DFNX4) [MIM:300066] A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. The disease is caused by variants affecting the gene represented in this entry. Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075] An X-linked recessive, slowly progressive muscular disorder characterized by adult onset of distal muscle weakness predominantly, affecting the lower limbs. Some patients also have proximal muscle weakness. Histopathological and electron microscopic analysis of patient muscle biopsies reveals myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. The disease may be caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the SMPX family.
RefSeq proteins (1): NP_055147* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029268 | Chisel | Family |
Pfam: PF15355
UniProt features (6 total): sequence variant 4, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHP9-F1 | 67.55 | 0.01 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 174 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, AP1_01, HNF3ALPHA_Q6, RORA1_01, GCANCTGNY_MYOD_Q6, MODULE_522, MEF2_02, GOBP_MUSCLE_CONTRACTION, OCT1_03, WTGAAAT_UNKNOWN, GRE_C, TGANTCA_AP1_C, NRF2_Q4, AACTTT_UNKNOWN, GOBP_MUSCLE_SYSTEM_PROCESS
GO Biological Process (1): striated muscle contraction (GO:0006941)
GO Molecular Function (0):
GO Cellular Component (6): nucleus (GO:0005634), muscle tendon junction (GO:0005927), M band (GO:0031430), costamere (GO:0043034), cytoplasm (GO:0005737), contractile muscle fiber (GO:0043292)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| muscle contraction | 1 |
| intracellular membrane-bounded organelle | 1 |
| cell-substrate junction | 1 |
| A band | 1 |
| myofibril | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| supramolecular fiber | 1 |
Protein interactions and networks
STRING
1052 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SMPX | PDK3 | Q15120 | 893 |
| SMPX | ITGB1BP2 | Q9UKP3 | 858 |
| SMPX | PDHA1 | P08559 | 763 |
| SMPX | PRPS1 | P09329 | 732 |
| SMPX | PRPS1L1 | P21108 | 717 |
| SMPX | COL4A6 | Q14031 | 667 |
| SMPX | TSPEAR | Q8WU66 | 665 |
| SMPX | FOXO4 | P98177 | 649 |
| SMPX | POU3F4 | P49335 | 642 |
| SMPX | GPSM2 | P81274 | 617 |
| SMPX | TPRN | Q4KMQ1 | 613 |
| SMPX | CEACAM16 | Q2WEN9 | 602 |
| SMPX | LOXHD1 | Q8IVV2 | 568 |
| SMPX | STRC | Q7RTU9 | 553 |
| SMPX | TIMM8A | O60220 | 548 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPINK7 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| PLXNB1 | HBB | psi-mi:“MI:0914”(association) | 0.350 |
| LINC01587 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (PCA), SMPX (PCA)
ESM2 similar proteins: A2AQ19, B5G1C4, B5XE27, O43395, O43768, O75391, O95983, P19237, P56211, P56212, P60840, P60841, P68210, P68211, Q0MUU2, Q13123, Q13435, Q1L8X2, Q28055, Q28GU6, Q2KI76, Q2KIA6, Q3UJB0, Q3ZBD4, Q5NVI3, Q5R5F1, Q5R5J3, Q5RAD5, Q5RB90, Q5ZIF8, Q5ZJ85, Q5ZLY8, Q66HG8, Q6DEB4, Q6GQG3, Q6NVR1, Q712U5, Q712U6, Q7TNE3, Q7ZXH9
Diamond homologs: Q0MUU2, Q3ZBD4, Q5RB90, Q925F0, Q9DC77, Q9UHP9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 16 |
| Likely pathogenic | 7 |
| Uncertain significance | 37 |
| Likely benign | 21 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (23)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1445549 | NM_014332.3(SMPX):c.130G>T (p.Glu44Ter) | Pathogenic |
| 1451817 | NM_014332.3(SMPX):c.233G>A (p.Ser78Asn) | Pathogenic |
| 1676664 | NM_014332.3(SMPX):c.79C>G (p.Pro27Ala) | Pathogenic |
| 1676665 | NM_014332.3(SMPX):c.38C>T (p.Ala13Val) | Pathogenic |
| 1676666 | NM_014332.3(SMPX):c.19C>A (p.Pro7Thr) | Pathogenic |
| 29945 | NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) | Pathogenic |
| 29946 | NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) | Pathogenic |
| 29947 | NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) | Pathogenic |
| 29948 | NM_014332.3(SMPX):c.130del (p.Glu44fs) | Pathogenic |
| 3246751 | NC_000023.10:g.(?21772344)(21772408_?)del | Pathogenic |
| 3601795 | NM_014332.3(SMPX):c.265T>C (p.Ter89Gln) | Pathogenic |
| 3601797 | NM_014332.3(SMPX):c.45+1G>T | Pathogenic |
| 3724097 | NM_014332.3(SMPX):c.245del (p.Tyr82fs) | Pathogenic |
| 40063 | NM_014332.3(SMPX):c.99del (p.Arg34fs) | Pathogenic |
| 444056 | NM_014332.3(SMPX):c.87dup (p.Gly30fs) | Pathogenic |
| 987023 | NM_014332.3(SMPX):c.127G>T (p.Glu43Ter) | Pathogenic |
| 1065047 | NM_014332.3(SMPX):c.140del (p.Pro47fs) | Likely pathogenic |
| 1297079 | NM_014332.3(SMPX):c.132+1G>A | Likely pathogenic |
| 3024082 | NM_014332.3(SMPX):c.217del (p.Ile73fs) | Likely pathogenic |
| 3347097 | NM_014332.3(SMPX):c.109dup (p.Glu37fs) | Likely pathogenic |
| 3677196 | NM_014332.3(SMPX):c.45+1G>A | Likely pathogenic |
| 417903 | NM_014332.3(SMPX):c.133-1G>A | Likely pathogenic |
| 975949 | NM_014332.3(SMPX):c.29del (p.Asn10fs) | Likely pathogenic |
SpliceAI
738 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:21737696:CC:C | acceptor_gain | 1.0000 |
| X:21737697:CC:C | acceptor_gain | 1.0000 |
| X:21743744:CCTCA:C | donor_loss | 1.0000 |
| X:21743745:CTCAC:C | donor_loss | 1.0000 |
| X:21743746:TCA:T | donor_loss | 1.0000 |
| X:21743747:CACC:C | donor_loss | 1.0000 |
| X:21743748:A:C | donor_loss | 1.0000 |
| X:21743748:ACCT:A | donor_gain | 1.0000 |
| X:21743749:C:CA | donor_loss | 1.0000 |
| X:21743749:CCTC:C | donor_gain | 1.0000 |
| X:21743751:T:TA | donor_gain | 1.0000 |
| X:21743832:TTTGC:T | acceptor_gain | 1.0000 |
| X:21743833:TTGC:T | acceptor_gain | 1.0000 |
| X:21743837:C:CC | acceptor_gain | 1.0000 |
| X:21754241:CTT:C | donor_loss | 1.0000 |
| X:21754242:TTA:T | donor_loss | 1.0000 |
| X:21754243:TACCT:T | donor_loss | 1.0000 |
| X:21754244:A:AC | donor_gain | 1.0000 |
| X:21754245:C:CC | donor_gain | 1.0000 |
| X:21754245:C:CG | donor_loss | 1.0000 |
| X:21754300:TCC:T | acceptor_gain | 1.0000 |
| X:21754300:TCCC:T | acceptor_loss | 1.0000 |
| X:21754301:CC:C | acceptor_gain | 1.0000 |
| X:21754301:CCC:C | acceptor_gain | 1.0000 |
| X:21754302:CC:C | acceptor_gain | 1.0000 |
| X:21754303:C:CC | acceptor_gain | 1.0000 |
| X:21754304:T:C | acceptor_loss | 1.0000 |
| X:21757936:GCTTA:G | donor_loss | 1.0000 |
| X:21757937:CTTAC:C | donor_loss | 1.0000 |
| X:21757938:TTA:T | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000003993 (X:21722699 C>T), RS1000090597 (X:21709840 A>G), RS1000123076 (X:21710200 A>G), RS1000168672 (X:21733926 G>C), RS1000241307 (X:21752268 A>T), RS1000253687 (X:21719859 T>C), RS1000385529 (X:21746651 T>G), RS1000470856 (X:21730175 G>A), RS1000592133 (X:21752678 T>G), RS1000787063 (X:21706735 G>A), RS1000876748 (X:21732829 G>C), RS1000877541 (X:21755528 T>C), RS1000986384 (X:21743138 G>GA), RS1001028268 (X:21717941 T>C), RS1001069580 (X:21744286 C>T)
Disease associations
OMIM: gene MIM:300226 | disease phenotypes: MIM:300066, MIM:301075, MIM:304500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nonsyndromic genetic hearing loss | Definitive | X-linked |
| hearing loss, X-linked 4 | Strong | X-linked |
| myopathy, distal, 7, adult-onset, X-linked | Strong | X-linked |
| X-linked nonsyndromic hearing loss | Supportive | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| nonsyndromic genetic hearing loss | Definitive | XL |
Mondo (6): hearing loss disorder (MONDO:0005365), hearing loss, X-linked 4 (MONDO:0010238), myopathy, distal, 7, adult-onset, X-linked (MONDO:0024771), X-linked deafness (MONDO:0020768), nonsyndromic genetic hearing loss (MONDO:0019497), X-linked nonsyndromic hearing loss (MONDO:0019586)
Orphanet (2): Rare X-linked non-syndromic sensorineural deafness type DFN (Orphanet:90625), SMPX-related distal myopathy (Orphanet:700163)
HPO phenotypes
22 total (22 of 22 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000518 | Cataract |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001638 | Cardiomyopathy |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003596 | Middle age onset |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0003691 | Scapular winging |
| HP:0003805 | Rimmed vacuoles |
| HP:0005101 | High-frequency hearing impairment |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0008994 | Proximal lower limb muscle weakness |
| HP:0008997 | Proximal upper limb muscle weakness |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0031318 | Myofiber disarray |
| HP:0100303 | Muscle fiber cytoplasmatic inclusion bodies |
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D034381 | Hearing Loss | C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341 |
| C564723 | Deafness, X-Linked 4 (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
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | increases methylation | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Estradiol | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1XG | UMi029-A | Induced pluripotent stem cell | Male |
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 |
Related Atlas pages
- Associated diseases: nonsyndromic genetic hearing loss, hearing loss, X-linked 4, myopathy, distal, 7, adult-onset, X-linked, X-linked nonsyndromic hearing loss
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hearing loss disorder, hearing loss, X-linked 4, myopathy, distal, 7, adult-onset, X-linked, nonsyndromic genetic hearing loss, X-linked deafness, X-linked nonsyndromic hearing loss