TMEM184B
gene geneOn this page
Also known as HS5O6ADKFZP586A1024FM08SLC51C2
Summary
TMEM184B (transmembrane protein 184B, HGNC:1310) is a protein-coding gene on chromosome 22q13.1, encoding Transmembrane protein 184B (Q9Y519). May activate the MAP kinase signaling pathway.
Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane.
Source: NCBI Gene 25829 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 64 total
- MANE Select transcript:
NM_012264
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1310 |
| Approved symbol | TMEM184B |
| Name | transmembrane protein 184B |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HS5O6A, DKFZP586A1024, FM08, SLC51C2 |
| Ensembl gene | ENSG00000198792 |
| Ensembl biotype | protein_coding |
| Entrez | 25829 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 20 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000361684, ENST00000361906, ENST00000403210, ENST00000411679, ENST00000436674, ENST00000457534, ENST00000464059, ENST00000466117, ENST00000474416, ENST00000488844, ENST00000504337, ENST00000633056, ENST00000633438, ENST00000883823, ENST00000883824, ENST00000883825, ENST00000883826, ENST00000883827, ENST00000883828, ENST00000883829, ENST00000883830, ENST00000883831, ENST00000883832, ENST00000883833, ENST00000883834, ENST00000883835, ENST00000913389, ENST00000956214, ENST00000956215, ENST00000956216
RefSeq mRNA: 3 — MANE Select: NM_012264
NM_001195071, NM_001195072, NM_012264
CCDS: CCDS13969
Canonical transcript exons
ENST00000361906 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001047965 | 38272884 | 38273010 |
| ENSE00001375151 | 38219291 | 38221710 |
| ENSE00003458707 | 38247770 | 38248019 |
| ENSE00003494450 | 38226779 | 38226870 |
| ENSE00003511045 | 38224785 | 38224979 |
| ENSE00003526419 | 38231244 | 38231334 |
| ENSE00003580377 | 38225424 | 38225593 |
| ENSE00003599632 | 38230669 | 38230744 |
| ENSE00003640288 | 38245935 | 38246100 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.9973 / max 265.4213, expressed in 1808 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194137 | 37.8892 | 1800 |
| 194138 | 5.1995 | 1689 |
| 209473 | 1.0831 | 772 |
| 209472 | 0.9465 | 659 |
| 209471 | 0.8791 | 564 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.06 | gold quality |
| spinal cord | UBERON:0002240 | 95.90 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.84 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.45 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.23 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.92 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.90 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.68 | gold quality |
| right lung | UBERON:0002167 | 94.41 | gold quality |
| apex of heart | UBERON:0002098 | 94.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.33 | gold quality |
| ascending aorta | UBERON:0001496 | 94.32 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 94.13 | gold quality |
| frontal cortex | UBERON:0001870 | 94.10 | gold quality |
| inferior olivary complex | UBERON:0002127 | 93.91 | gold quality |
| aorta | UBERON:0000947 | 93.87 | gold quality |
| neocortex | UBERON:0001950 | 93.83 | gold quality |
| medulla oblongata | UBERON:0001896 | 93.76 | gold quality |
| sural nerve | UBERON:0015488 | 93.74 | gold quality |
| amygdala | UBERON:0001876 | 93.63 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.59 | gold quality |
| popliteal artery | UBERON:0002250 | 93.57 | gold quality |
| tibial artery | UBERON:0007610 | 93.56 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 93.52 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.49 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.48 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.47 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.39 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.32 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 215.83 |
| E-ANND-3 | yes | 8.56 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
132 targeting TMEM184B, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
Literature-anchored findings (GeneRIF, showing 2)
- C22orf5 (FM08) represents a novel gene found during a screening of gene that activate the MAPK pathway. (PMID:12761501)
- Data shows that miR-26a and miR-26b were significantly downregulated and their direct target, TMEM184B significantly up-regulated in oral squamous cell carcinoma cells. (PMID:25668004)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem184ba | ENSDARG00000045147 |
| danio_rerio | tmem184bb.2 | ENSDARG00000090876 |
| danio_rerio | tmem184bb.1 | ENSDARG00000091956 |
| mus_musculus | Tmem184b | ENSMUSG00000009035 |
| rattus_norvegicus | Tmem184b | ENSRNOG00000022802 |
| caenorhabditis_elegans | WBGENE00009574 |
Paralogs (3): SLC51A (ENSG00000163959), TMEM184C (ENSG00000164168), TMEM184A (ENSG00000164855)
Protein
Protein identifiers
Transmembrane protein 184B — Q9Y519 (reviewed: Q9Y519)
Alternative names: Putative MAPK-activating protein FM08
All UniProt accessions (4): A0A0J9YYJ3, Q9Y519, F2Z397, F8WCD4
UniProt curated annotations — full annotation on UniProt →
Function. May activate the MAP kinase signaling pathway.
Subcellular location. Membrane.
Similarity. Belongs to the TMEM184 family.
RefSeq proteins (3): NP_001182000, NP_001182001, NP_036396* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005178 | Ostalpha/TMEM184C | Family |
Pfam: PF03619
UniProt features (17 total): transmembrane region 7, modified residue 3, sequence conflict 3, region of interest 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y519-F1 | 73.63 | 0.23 |
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 (3): 388, 402, 403
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 179 (showing top):
MORF_MSH3, MORF_BRCA1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GTGCCTT_MIR506, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, TCCAGAG_MIR518C, DOUGLAS_BMI1_TARGETS_UP, GTATGAT_MIR154_MIR487, CTTTGTA_MIR524, TGCCTTA_MIR124A, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MORF_PPP2R5B, GOBP_TRANSMEMBRANE_TRANSPORT, GCM_PTK2
GO Biological Process (1): transmembrane transport (GO:0055085)
GO Molecular Function (1): transmembrane transporter activity (GO:0022857)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 1 |
| cellular process | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
506 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM184B | DOK4 | Q8TEW6 | 604 |
| TMEM184B | ADAMTSL5 | Q6ZMM2 | 572 |
| TMEM184B | PRDM6 | Q9NQX0 | 506 |
| TMEM184B | PKP4 | Q99569 | 470 |
| TMEM184B | PRAP1 | Q96NZ9 | 459 |
| TMEM184B | SGSM3 | Q96HU1 | 437 |
| TMEM184B | MORN4 | Q8NDC4 | 435 |
| TMEM184B | MTMR11 | A4FU01 | 419 |
| TMEM184B | LSP1 | P33241 | 419 |
| TMEM184B | BAIAP2L2 | Q6UXY1 | 418 |
| TMEM184B | RPL37A | P12751 | 406 |
| TMEM184B | LZTS3 | O60299 | 395 |
| TMEM184B | RPP40 | O75818 | 388 |
| TMEM184B | KLF3 | P57682 | 386 |
| TMEM184B | SPRY2 | O43597 | 384 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPR21 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM184B | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC6A8 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| BBS4 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.510 |
| PDCD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ERGIC3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| FPR2 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| TIMM23 | PIKFYVE | psi-mi:“MI:0914”(association) | 0.350 |
| ZFYVE27 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| LPAR6 | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ABCG8 | TSPAN3 | psi-mi:“MI:0914”(association) | 0.350 |
| HCST | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CCR6 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| MICB | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| SYP | HAS3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM184B | SPAG9 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM184B | BBS4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (55): TMEM184B (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), SNIP1 (Affinity Capture-MS), REN (Affinity Capture-MS), CLASRP (Affinity Capture-MS), CCDC9 (Affinity Capture-MS), ACIN1 (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), C17orf85 (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), TMEM184B (Affinity Capture-MS)
ESM2 similar proteins: A2VDL9, A9UY97, F4JY11, G4YM00, G4Z2L3, O17204, O42579, P15920, P16393, P20715, P30628, P36142, P54960, P70549, P93766, Q09906, Q18071, Q1RMW2, Q29BL9, Q2U0S9, Q3UF25, Q3UFJ6, Q4QQS1, Q54PI4, Q54WM0, Q5BPZ5, Q5FWM8, Q5RBL0, Q5XIT3, Q5Z413, Q61086, Q651J5, Q657S5, Q6P6G5, Q6VVA6, Q6ZMB5, Q7TSW6, Q86TL2, Q8BG09, Q8MRQ4
Diamond homologs: A2VDL9, Q09906, Q17QL9, Q1RMW2, Q28CV2, Q3TPR7, Q3UFJ6, Q4QQS1, Q54PI4, Q54WM0, Q5BPZ5, Q5RET6, Q5ZMP3, Q6GQE1, Q6ZMB5, Q75JN3, Q810F5, Q8BG09, Q9NVA4, Q9Y519, F4JTN2, P36142, Q94CA0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2307 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:38221707:CGGC:C | acceptor_gain | 1.0000 |
| 22:38221719:C:CT | acceptor_gain | 1.0000 |
| 22:38224779:TCATA:T | donor_loss | 1.0000 |
| 22:38224783:A:C | donor_loss | 1.0000 |
| 22:38224784:C:CG | donor_loss | 1.0000 |
| 22:38224975:CATGC:C | acceptor_gain | 1.0000 |
| 22:38224976:ATGC:A | acceptor_gain | 1.0000 |
| 22:38224976:ATGCC:A | acceptor_loss | 1.0000 |
| 22:38224977:TGC:T | acceptor_gain | 1.0000 |
| 22:38224977:TGCC:T | acceptor_loss | 1.0000 |
| 22:38224978:GCCT:G | acceptor_loss | 1.0000 |
| 22:38224980:C:CC | acceptor_gain | 1.0000 |
| 22:38224980:C:CG | acceptor_loss | 1.0000 |
| 22:38225418:GCTCA:G | donor_loss | 1.0000 |
| 22:38225419:CTCAC:C | donor_loss | 1.0000 |
| 22:38225420:TCA:T | donor_loss | 1.0000 |
| 22:38225421:CAC:C | donor_loss | 1.0000 |
| 22:38225454:TG:T | donor_gain | 1.0000 |
| 22:38225592:CG:C | acceptor_gain | 1.0000 |
| 22:38225594:C:CC | acceptor_gain | 1.0000 |
| 22:38226777:A:AC | donor_gain | 1.0000 |
| 22:38226778:C:CC | donor_gain | 1.0000 |
| 22:38226867:TGGC:T | acceptor_gain | 1.0000 |
| 22:38226869:GCC:G | acceptor_loss | 1.0000 |
| 22:38226870:CCTGT:C | acceptor_loss | 1.0000 |
| 22:38226871:C:CC | acceptor_gain | 1.0000 |
| 22:38231242:A:AC | donor_gain | 1.0000 |
| 22:38231243:C:CC | donor_gain | 1.0000 |
| 22:38245929:CCTCA:C | donor_loss | 1.0000 |
| 22:38245930:CTCAC:C | donor_loss | 1.0000 |
AlphaMissense
2680 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:38221625:G:C | N356K | 1.000 |
| 22:38221625:G:T | N356K | 1.000 |
| 22:38230672:T:A | K174N | 1.000 |
| 22:38230672:T:G | K174N | 1.000 |
| 22:38221612:A:G | Y361H | 0.999 |
| 22:38221630:G:C | H355D | 0.999 |
| 22:38221635:G:T | A353D | 0.999 |
| 22:38221636:C:G | A353P | 0.999 |
| 22:38221639:C:G | D352H | 0.999 |
| 22:38224825:G:C | F314L | 0.999 |
| 22:38224825:G:T | F314L | 0.999 |
| 22:38224827:A:G | F314L | 0.999 |
| 22:38225542:G:C | S223R | 0.999 |
| 22:38225542:G:T | S223R | 0.999 |
| 22:38225544:T:G | S223R | 0.999 |
| 22:38226863:A:G | L178P | 0.999 |
| 22:38230682:C:A | R171M | 0.999 |
| 22:38231307:A:G | L129P | 0.999 |
| 22:38246059:C:A | Q78H | 0.999 |
| 22:38246059:C:G | Q78H | 0.999 |
| 22:38246087:A:G | L69P | 0.999 |
| 22:38221602:T:C | Y364C | 0.998 |
| 22:38221611:T:C | Y361C | 0.998 |
| 22:38221612:A:C | Y361D | 0.998 |
| 22:38221623:A:G | F357S | 0.998 |
| 22:38221638:T:A | D352V | 0.998 |
| 22:38221638:T:C | D352G | 0.998 |
| 22:38221638:T:G | D352A | 0.998 |
| 22:38221650:T:A | D348V | 0.998 |
| 22:38226856:G:C | F180L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000024834 (22:38262727 G>A), RS1000031938 (22:38268858 C>T), RS1000055199 (22:38267534 G>A), RS1000066553 (22:38240524 A>G), RS1000083960 (22:38268585 G>A), RS1000092945 (22:38254847 C>G,T), RS1000098680 (22:38240910 T>C), RS1000217663 (22:38247535 G>A,T), RS1000245382 (22:38247326 C>T), RS1000264266 (22:38257269 T>C), RS1000269634 (22:38222032 A>G), RS1000307131 (22:38246446 G>A), RS1000308052 (22:38217651 A>C), RS1000347052 (22:38251700 G>A,C), RS1000381421 (22:38217288 T>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neuromuscular disease (MONDO:0019056)
Orphanet (1): Neuromuscular disease (Orphanet:68381)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002667_11 | Mammographic density (dense area) | 3.000000e-08 |
| GCST002669_5 | Percent mammographic density | 5.000000e-09 |
| GCST010002_82 | Refractive error | 2.000000e-13 |
| GCST012226_156 | Waist circumference adjusted for body mass index | 1.000000e-11 |
| GCST012231_21 | A body shape index | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005941 | mammographic density measurement |
| EFO:0006503 | dense area measurement |
| EFO:0006502 | mammographic density percentage |
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009468 | Neuromuscular Diseases | C10.668 |
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 |
|---|---|---|
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Tetrachlorodibenzodioxin | increases expression, affects cotreatment | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fluorouracil | affects response to substance | 1 |
| Methapyrilene | increases methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triiodothyronine | affects cotreatment, increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
198 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00331656 | PHASE4 | UNKNOWN | Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. |
| NCT00994552 | PHASE4 | UNKNOWN | Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure |
| NCT00839033 | PHASE3 | TERMINATED | Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders |
| NCT00942227 | PHASE3 | COMPLETED | The Value of Traction in Treatment of Lumbar Radiculopathy |
| NCT00979108 | PHASE3 | COMPLETED | The Value of Traction in the Treatment of Cervical Radiculopathy |
| NCT01826487 | PHASE3 | COMPLETED | Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) |
| NCT02090959 | PHASE3 | TERMINATED | An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy |
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| NCT03179631 | PHASE3 | COMPLETED | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuromuscular disease