GJD3
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Also known as CX31.9GJA11Cx30.2
Summary
GJD3 (gap junction protein delta 3, HGNC:19147) is a protein-coding gene on chromosome 17q21.2, encoding Gap junction delta-3 protein (Q8N144). One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells.
Source: NCBI Gene 125111 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 57 total
- MANE Select transcript:
NM_152219
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19147 |
| Approved symbol | GJD3 |
| Name | gap junction protein delta 3 |
| Location | 17q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CX31.9, GJA11, Cx30.2 |
| Ensembl gene | ENSG00000183153 |
| Ensembl biotype | protein_coding |
| OMIM | 607425 |
| Entrez | 125111 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000578689
RefSeq mRNA: 1 — MANE Select: NM_152219
NM_152219
CCDS: CCDS58547
Canonical transcript exons
ENST00000578689 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002729383 | 40360652 | 40364737 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 82.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.5710 / max 74.8246, expressed in 1130 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166400 | 3.5710 | 1130 |
| 166401 | 1.4925 | 542 |
| 166402 | 0.7304 | 467 |
| 166398 | 0.4082 | 233 |
| 166399 | 0.1660 | 77 |
| 165709 | 0.1605 | 92 |
Top tissues by expression
242 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.10 | gold quality |
| apex of heart | UBERON:0002098 | 81.78 | gold quality |
| pancreatic ductal cell | CL:0002079 | 77.91 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 77.38 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 76.65 | gold quality |
| spleen | UBERON:0002106 | 73.84 | gold quality |
| ileal mucosa | UBERON:0000331 | 71.93 | gold quality |
| upper arm skin | UBERON:0004263 | 71.53 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 71.35 | gold quality |
| stromal cell of endometrium | CL:0002255 | 70.91 | gold quality |
| myocardium | UBERON:0002349 | 70.89 | gold quality |
| heart left ventricle | UBERON:0002084 | 69.27 | gold quality |
| cardiac ventricle | UBERON:0002082 | 69.13 | gold quality |
| right lung | UBERON:0002167 | 69.08 | gold quality |
| gall bladder | UBERON:0002110 | 68.90 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 68.72 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 68.34 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 68.22 | gold quality |
| vermiform appendix | UBERON:0001154 | 67.95 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 67.86 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 67.83 | gold quality |
| upper lobe of lung | UBERON:0008948 | 67.49 | gold quality |
| metanephros cortex | UBERON:0010533 | 67.35 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 67.10 | gold quality |
| prostate gland | UBERON:0002367 | 67.08 | gold quality |
| metanephros | UBERON:0000081 | 66.31 | gold quality |
| thyroid gland | UBERON:0002046 | 66.16 | gold quality |
| caecum | UBERON:0001153 | 65.87 | gold quality |
| tibialis anterior | UBERON:0001385 | 65.86 | silver quality |
| seminal vesicle | UBERON:0000998 | 65.82 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting GJD3, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-549A-3P | 99.54 | 68.17 | 825 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-653-5P | 99.46 | 67.35 | 1300 |
| HSA-MIR-8064 | 99.45 | 66.92 | 875 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
Literature-anchored findings (GeneRIF, showing 8)
- Results describe the identification of a novel human gap junction gene that encodes a protein designated HCx31.9 (connexin 31.9). (PMID:12064584)
- Connexin 31.9 represents a novel connexin gene that in vivo generates a protein with unique voltage gating properties. (PMID:12154091)
- expression patterns differ from mouse orthologs [Cx30.2; Cx40.1] (PMID:12881038)
- Hemichannels formed of mCx30.2 and hCx31.9 may slow propagation of excitation in the sinoatrial and atrioventricular nodes by shortening the space constant and depolarizing the excitable membrane (PMID:16772377)
- Exogenous Cx31 expression induced neurite outgrowth in human neuronal cell lines, but not differentiation in primary human keratinocytes. (PMID:17142249)
- Our data suggest that connexin30.2 can form heteromers with the other cardiac connexins. (PMID:18291099)
- Cx31.9 protein, unlike its counterpart in the mouse, is not expressed in detectable quantities and is thus unlikely to contribute to the impulse generation and conduction system or the working myocardium of the human heart. (PMID:19168070)
- Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells. (PMID:33141287)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gjd3 | ENSMUSG00000047197 |
| rattus_norvegicus | Gjd3 | ENSRNOG00000051691 |
Paralogs (20): GJA8 (ENSG00000121634), GJB6 (ENSG00000121742), GJA3 (ENSG00000121743), GJA9 (ENSG00000131233), GJA10 (ENSG00000135355), GJA1 (ENSG00000152661), GJD2 (ENSG00000159248), GJB7 (ENSG00000164411), GJB2 (ENSG00000165474), GJB1 (ENSG00000169562), GJC3 (ENSG00000176402), GJD4 (ENSG00000177291), GJC1 (ENSG00000182963), GJA4 (ENSG00000187513), GJB3 (ENSG00000188910), GJB5 (ENSG00000189280), GJB4 (ENSG00000189433), GJC2 (ENSG00000198835), GJE1 (ENSG00000203733), GJA5 (ENSG00000265107)
Protein
Protein identifiers
Gap junction delta-3 protein — Q8N144 (reviewed: Q8N144)
Alternative names: Connexin-31.9, Gap junction alpha-11 protein, Gap junction chi-1 protein
All UniProt accessions (2): A0A654IC68, Q8N144
UniProt curated annotations — full annotation on UniProt →
Function. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Subunit / interactions. A connexon is composed of a hexamer of connexins. Interacts with TJP1.
Subcellular location. Cell membrane. Cell junction. Gap junction.
Tissue specificity. Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.
Similarity. Belongs to the connexin family. Delta-type subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N144-1 | 1 | yes |
| Q8N144-2 | 2 |
RefSeq proteins (1): NP_689343* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000500 | Connexin | Family |
| IPR013092 | Connexin_N | Domain |
| IPR017990 | Connexin_CS | Conserved_site |
| IPR019570 | Connexin_CCC | Domain |
| IPR038359 | Connexin_N_sf | Homologous_superfamily |
Pfam: PF00029
UniProt features (13 total): topological domain 5, transmembrane region 4, chain 1, region of interest 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N144-F1 | 78.25 | 0.45 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-190861 | Gap junction assembly |
MSigDB gene sets: 256 (showing top):
GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOCC_CELL_SURFACE, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CELL_CELL_SIGNALING, BROWNE_HCMV_INFECTION_48HR_DN, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, IRF7_01, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_BLOOD_CIRCULATION, GOBP_MUSCLE_CONTRACTION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_CELL_COMMUNICATION_INVOLVED_IN_CARDIAC_CONDUCTION
GO Biological Process (10): cell communication (GO:0007154), cell-cell signaling (GO:0007267), response to glucose (GO:0009749), negative regulation of heart rate (GO:0010459), gap junction assembly (GO:0016264), negative regulation of cardiac conduction (GO:1903780), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085), AV node cell to bundle of His cell communication by electrical coupling (GO:0086053), negative regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901845)
GO Molecular Function (4): monoatomic ion channel activity (GO:0005216), gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077), gap junction channel activity (GO:0005243), protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), connexin complex (GO:0005922), cell surface (GO:0009986), gap junction (GO:0005921), membrane (GO:0016020), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Gap junction trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular process | 2 |
| cell communication by electrical coupling involved in cardiac conduction | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| signaling | 1 |
| response to hexose | 1 |
| regulation of heart rate | 1 |
| negative regulation of heart contraction | 1 |
| cell-cell junction assembly | 1 |
| negative regulation of biological process | 1 |
| cardiac conduction | 1 |
| regulation of cardiac conduction | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| transport | 1 |
| AV node cell to bundle of His cell communication | 1 |
| negative regulation of cell communication by electrical coupling | 1 |
| regulation of cell communication by electrical coupling involved in cardiac conduction | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| AV node cell to bundle of His cell communication by electrical coupling | 1 |
| gap junction channel activity involved in cardiac conduction electrical coupling | 1 |
| wide pore channel activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| gap junction | 1 |
| plasma membrane protein complex | 1 |
| cell-cell junction | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
392 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GJD3 | TJP1 | Q07157 | 861 |
| GJD3 | GJE1 | A6NN92 | 554 |
| GJD3 | GJC1 | P36383 | 509 |
| GJD3 | HCN4 | Q9Y3Q4 | 452 |
| GJD3 | TBX3 | O15119 | 428 |
| GJD3 | TBX5 | Q99593 | 370 |
| GJD3 | CACNA1G | O43497 | 348 |
| GJD3 | ZNF324 | O75467 | 335 |
| GJD3 | TBX2 | Q13207 | 331 |
| GJD3 | ZNF324B | Q6AW86 | 329 |
| GJD3 | SCN5A | Q14524 | 327 |
| GJD3 | TBX18 | O95935 | 318 |
| GJD3 | SHOX2 | O60902 | 315 |
| GJD3 | PRKAB2 | O43741 | 303 |
| GJD3 | CHD1L | Q86WJ1 | 298 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GJD3 | TJP1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| BMP2K | GJD3 | psi-mi:“MI:0915”(physical association) | 0.490 |
BioGRID (453): AAAS (Proximity Label-MS), ABCC1 (Proximity Label-MS), ACBD3 (Proximity Label-MS), ACSL3 (Proximity Label-MS), ADCY9 (Proximity Label-MS), ADD3 (Proximity Label-MS), LPHN2 (Proximity Label-MS), ALCAM (Proximity Label-MS), ALDH3A2 (Proximity Label-MS), ANKLE2 (Proximity Label-MS), ANKRD26 (Proximity Label-MS), ANO6 (Proximity Label-MS), APBB1 (Proximity Label-MS), APBB2 (Proximity Label-MS), APOL2 (Proximity Label-MS)
ESM2 similar proteins: A3KN95, A4IFG4, A7E2I7, E2RDP2, J3QMI4, O94810, O95382, P0C5W1, P23677, P82350, Q15628, Q16586, Q1RMX3, Q24JP5, Q28686, Q29RH2, Q3T904, Q3U0S6, Q45T69, Q49LS1, Q5FWU3, Q5RCS0, Q5U651, Q64255, Q674R7, Q684M2, Q68FE2, Q68FE7, Q6EBV9, Q6GQT5, Q6NY19, Q6P9Q4, Q6PEY1, Q7Z3C6, Q80WF4, Q80XF7, Q86TL0, Q86XJ0, Q8C052, Q8C152
Diamond homologs: A2VE67, A3KN25, A4GG66, A4GVD1, A4IFL1, A6XKM2, O18968, O57474, O93533, O95377, O95452, P08033, P08034, P08050, P08983, P14154, P16863, P16864, P17302, P18246, P18860, P18861, P21994, P23242, P25305, P28228, P28229, P28230, P28231, P28232, P28233, P28234, P28235, P28236, P29033, P29414, P29415, P33725, P35212, P36381
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
924 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:44804036:T:TA | donor_gain | 1.0000 |
| 17:44805834:TGCC:T | acceptor_gain | 1.0000 |
| 17:44805836:CC:C | acceptor_gain | 1.0000 |
| 17:44805836:CCCT:C | acceptor_loss | 1.0000 |
| 17:44805837:CCTGA:C | acceptor_gain | 1.0000 |
| 17:44805838:C:CG | acceptor_loss | 1.0000 |
| 17:44805839:T:A | acceptor_loss | 1.0000 |
| 17:44805847:G:C | acceptor_gain | 1.0000 |
| 17:44805847:G:GC | acceptor_gain | 1.0000 |
| 17:44807389:TTTA:T | donor_loss | 1.0000 |
| 17:44807390:TTA:T | donor_loss | 1.0000 |
| 17:44807391:TA:T | donor_loss | 1.0000 |
| 17:44807392:A:C | donor_loss | 1.0000 |
| 17:44807393:C:A | donor_loss | 1.0000 |
| 17:44807465:TCCCT:T | acceptor_gain | 1.0000 |
| 17:44807466:CCCT:C | acceptor_gain | 1.0000 |
| 17:44807466:CCCTC:C | acceptor_gain | 1.0000 |
| 17:44807467:CCTC:C | acceptor_gain | 1.0000 |
| 17:44807468:CT:C | acceptor_gain | 1.0000 |
| 17:44807470:C:CA | acceptor_loss | 1.0000 |
| 17:44807470:C:CC | acceptor_gain | 1.0000 |
| 17:44804032:AACCT:A | donor_gain | 0.9900 |
| 17:44805833:ATGCC:A | acceptor_gain | 0.9900 |
| 17:44805835:GCC:G | acceptor_gain | 0.9900 |
| 17:44805836:CCC:C | acceptor_gain | 0.9900 |
| 17:44805838:C:CC | acceptor_gain | 0.9900 |
| 17:44805838:C:T | acceptor_gain | 0.9900 |
| 17:44805841:A:C | acceptor_gain | 0.9900 |
| 17:44805859:C:CT | acceptor_gain | 0.9900 |
| 17:44807467:CCT:C | acceptor_gain | 0.9900 |
AlphaMissense
1847 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:40363661:A:C | F52C | 0.999 |
| 17:40363682:A:C | F45C | 0.999 |
| 17:40363660:G:C | F52L | 0.998 |
| 17:40363660:G:T | F52L | 0.998 |
| 17:40363662:A:G | F52L | 0.998 |
| 17:40363681:G:C | F45L | 0.998 |
| 17:40363681:G:T | F45L | 0.998 |
| 17:40363683:A:G | F45L | 0.998 |
| 17:40363279:G:C | C179W | 0.997 |
| 17:40363606:G:C | F70L | 0.997 |
| 17:40363606:G:T | F70L | 0.997 |
| 17:40363608:A:G | F70L | 0.997 |
| 17:40363651:G:C | N55K | 0.997 |
| 17:40363651:G:T | N55K | 0.997 |
| 17:40363655:C:G | C54S | 0.997 |
| 17:40363655:C:T | C54Y | 0.997 |
| 17:40363656:A:T | C54S | 0.997 |
| 17:40363661:A:G | F52S | 0.997 |
| 17:40363255:C:A | K187N | 0.996 |
| 17:40363255:C:G | K187N | 0.996 |
| 17:40363258:C:A | E186D | 0.996 |
| 17:40363258:C:G | E186D | 0.996 |
| 17:40363276:G:C | F180L | 0.996 |
| 17:40363276:G:T | F180L | 0.996 |
| 17:40363277:A:C | F180C | 0.996 |
| 17:40363278:A:G | F180L | 0.996 |
| 17:40363280:C:G | C179S | 0.996 |
| 17:40363280:C:T | C179Y | 0.996 |
| 17:40363281:A:T | C179S | 0.996 |
| 17:40363607:A:C | F70C | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000108930 (17:40363960 G>A), RS1000177893 (17:40362693 G>A), RS1000923898 (17:40360768 A>G), RS1002055758 (17:40365004 T>G), RS1002111781 (17:40366669 A>C,G,T), RS1002181329 (17:40365699 G>A), RS1002241443 (17:40360636 A>G), RS1002571863 (17:40362166 GCACA>G,GCA), RS1002924704 (17:40364695 C>T), RS1003965174 (17:40366628 G>A), RS1004122980 (17:40364920 C>T), RS1004521322 (17:40362138 G>A), RS1004591280 (17:40360540 T>C), RS1004977277 (17:40361870 C>T), RS1005732378 (17:40365786 C>T)
Disease associations
OMIM: gene MIM:607425 | disease phenotypes: MIM:156000
GenCC curated gene-disease
Mondo (1): Meniere disease (MONDO:0007972)
Orphanet (1): NON RARE IN EUROPE: Menière disease (Orphanet:45360)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002401_546 | Platelet distribution width | 2.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008575 | Meniere Disease | C09.218.568.217.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other ic — Connexins and Pannexins
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 4 |
| propionaldehyde | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| entinostat | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Methapyrilene | decreases methylation, increases expression | 1 |
| Nickel | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Clinical trials (associated diseases)
31 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01574313 | PHASE4 | COMPLETED | Effect of Stellate Ganglion Block on Meniere’s Disease |
| NCT02529475 | PHASE4 | TERMINATED | Evaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS) |
| NCT04815187 | PHASE4 | ACTIVE_NOT_RECRUITING | Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease |
| NCT03664674 | PHASE3 | COMPLETED | Phase 3 Study of OTO-104 in Subjects With Unilateral Meniere’s Disease |
| NCT04677972 | PHASE3 | COMPLETED | SPI-1005 for the Treatment of Meniere’s Disease |
| NCT05851508 | PHASE3 | RECRUITING | The Effecttiveness of Intratympanic Methylprednisolon Injections Compared to Placebo in the Treatment of Vertigo Attacks in Meniere’s Disease |
| NCT05420350 | PHASE2 | UNKNOWN | Lamotrigine and Bupropion for Meniere’s Disease |
| NCT06544434 | PHASE2 | RECRUITING | Laser Acupuncture for Meniere Disease |
| NCT04674735 | PHASE1 | WITHDRAWN | Safety of APSLXR in Patients Presenting Vertigo of Vestibular Origin or Meniere’s Disease |
| NCT04218123 | PHASE2/PHASE3 | COMPLETED | Assessing the Efficacy of a Serotonin and Norepinephrine Reuptake Inhibitor for Improving Meniere’s Disease Outcomes |
| NCT04766853 | PHASE1/PHASE2 | COMPLETED | Verification of the Efficacy/safety of the Intratympanic Drug Delivery for Hearing Loss |
| NCT04794842 | EARLY_PHASE1 | UNKNOWN | Comparing Topical Tetracaine Drops to Topical Focal Phenol for Local Anesthesia During Intratympanic Steroid Injection |
| NCT00599560 | Not specified | COMPLETED | Vasopressin and V2 Receptor in Meniere’s Disease |
| NCT02371798 | Not specified | WITHDRAWN | Unilateral Meniere Disease: Can Double Dose Gadolinium and Delayed Imaging Make the Diagnosis? |
| NCT03520322 | Not specified | TERMINATED | A Study of a Mastoid Device in Subjects With Ménière’s Disease |
| NCT03795675 | Not specified | ACTIVE_NOT_RECRUITING | CI Following VS Removal or Labyrinthectomy |
| NCT04370366 | Not specified | RECRUITING | Imaging of Endolymphatic Hydrops at 7T MRI |
| NCT04569175 | Not specified | COMPLETED | Non Enhanced Labyrinth Imaging for the Detection of Endolymphatic Hydrops in Meniere’s Disease NELI Study |
| NCT04686695 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation Treatment on Meniere Disease |
| NCT04835688 | Not specified | UNKNOWN | Ventilation Tube Insertion for Unilateral Menière’s Disease |
| NCT04902963 | Not specified | COMPLETED | What is the Tympanic Membrane Healing Time After Insertion of a Gelfoam PE Tube? |
| NCT04935970 | Not specified | UNKNOWN | Metabolic Disorders and Vertigo |
| NCT05322538 | Not specified | NOT_YET_RECRUITING | Menier’s Disease - Bone Density Study |
| NCT05328895 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation for Meniere Disease |
| NCT05424302 | Not specified | RECRUITING | Effect of Peripheral Vestibular Disease Location on Outcomes Following Home-based Virtual Reality Vestibular Therapy |
| NCT05582148 | Not specified | UNKNOWN | Meniere Disease and Hearing Aids |
| NCT05844657 | Not specified | COMPLETED | Comprehensive Evaluation in Patients With Meniere’s Disease |
| NCT05960786 | Not specified | COMPLETED | Treating the Symptoms of Vertigo in a Real-world Setting Using the OtoBand |
| NCT06278129 | Not specified | UNKNOWN | Evaluation of the Diagnostic and Prognostic Efficacy of MRI in Acute Sensorineural Hearing Loss and Ménière’s Disease |
| NCT06544590 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation for Meniere Disease |
| NCT07272473 | Not specified | RECRUITING | Effects of Cervical Mobilization on Dizziness, Balance, and Joint Position Sense in Patients With Meniere’s Disease |
Related Atlas pages
- Targeted by drugs: Calcium, Carbenoxolone
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Meniere disease