TMEM184B

gene
On 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

FieldValue
HGNC IDHGNC:1310
Approved symbolTMEM184B
Nametransmembrane protein 184B
Location22q13.1
Locus typegene with protein product
StatusApproved
AliasesHS5O6A, DKFZP586A1024, FM08, SLC51C2
Ensembl geneENSG00000198792
Ensembl biotypeprotein_coding
Entrez25829

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

ExonStartEnd
ENSE000010479653827288438273010
ENSE000013751513821929138221710
ENSE000034587073824777038248019
ENSE000034944503822677938226870
ENSE000035110453822478538224979
ENSE000035264193823124438231334
ENSE000035803773822542438225593
ENSE000035996323823066938230744
ENSE000036402883824593538246100

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 IDTPM avgSamples expressed
19413737.88921800
1941385.19951689
2094731.0831772
2094720.9465659
2094710.8791564

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
C1 segment of cervical spinal cordUBERON:000646996.14gold quality
right frontal lobeUBERON:000281096.06gold quality
spinal cordUBERON:000224095.90gold quality
stromal cell of endometriumCL:000225595.84gold quality
inferior vagus X ganglionUBERON:000536395.45gold quality
prefrontal cortexUBERON:000045195.23gold quality
cingulate cortexUBERON:000302794.92gold quality
anterior cingulate cortexUBERON:000983594.90gold quality
right hemisphere of cerebellumUBERON:001489094.68gold quality
right lungUBERON:000216794.41gold quality
apex of heartUBERON:000209894.36gold quality
thoracic aortaUBERON:000151594.33gold quality
ascending aortaUBERON:000149694.32gold quality
dorsal motor nucleus of vagus nerveUBERON:000287094.13gold quality
frontal cortexUBERON:000187094.10gold quality
inferior olivary complexUBERON:000212793.91gold quality
aortaUBERON:000094793.87gold quality
neocortexUBERON:000195093.83gold quality
medulla oblongataUBERON:000189693.76gold quality
sural nerveUBERON:001548893.74gold quality
amygdalaUBERON:000187693.63gold quality
Brodmann (1909) area 9UBERON:001354093.59gold quality
popliteal arteryUBERON:000225093.57gold quality
tibial arteryUBERON:000761093.56gold quality
Brodmann (1909) area 10UBERON:001354193.52gold quality
cerebellar hemisphereUBERON:000224593.49gold quality
descending thoracic aortaUBERON:000234593.48gold quality
cerebellar cortexUBERON:000212993.47gold quality
subthalamic nucleusUBERON:000190693.39gold quality
upper lobe of left lungUBERON:000895293.32gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-100618yes215.83
E-ANND-3yes8.56

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4533100.0069.482758
HSA-MIR-656-3P100.0072.152788
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-12118100.0065.881270
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-4692100.0067.322066
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-451499.9967.101870
HSA-MIR-453499.9966.581907
HSA-MIR-539-3P99.9870.741616
HSA-MIR-485-3P99.9870.681585
HSA-MIR-6891-5P99.9866.531372
HSA-MIR-32-5P99.9875.211964
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-3173-3P99.9866.491217
HSA-MIR-477599.9875.006394
HSA-MIR-25-3P99.9874.601817
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-7152-3P99.9767.47849
HSA-MIR-34C-5P99.9770.451577
HSA-MIR-449B-5P99.9770.261580

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

OrganismSymbolGene ID
danio_reriotmem184baENSDARG00000045147
danio_reriotmem184bb.2ENSDARG00000090876
danio_reriotmem184bb.1ENSDARG00000091956
mus_musculusTmem184bENSMUSG00000009035
rattus_norvegicusTmem184bENSRNOG00000022802
caenorhabditis_elegansWBGENE00009574

Paralogs (3): SLC51A (ENSG00000163959), TMEM184C (ENSG00000164168), TMEM184A (ENSG00000164855)

Protein

Protein identifiers

Transmembrane protein 184BQ9Y519 (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)

IDNameType
IPR005178Ostalpha/TMEM184CFamily

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)

ModelpLDDTFraction very-high
AF-Q9Y519-F173.630.23

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:

CategoryTerms
transport1
cellular process1
transporter activity1
transmembrane transport1
cellular anatomical structure1

Protein interactions and networks

STRING

506 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMEM184BDOK4Q8TEW6604
TMEM184BADAMTSL5Q6ZMM2572
TMEM184BPRDM6Q9NQX0506
TMEM184BPKP4Q99569470
TMEM184BPRAP1Q96NZ9459
TMEM184BSGSM3Q96HU1437
TMEM184BMORN4Q8NDC4435
TMEM184BMTMR11A4FU01419
TMEM184BLSP1P33241419
TMEM184BBAIAP2L2Q6UXY1418
TMEM184BRPL37AP12751406
TMEM184BLZTS3O60299395
TMEM184BRPP40O75818388
TMEM184BKLF3P57682386
TMEM184BSPRY2O43597384

IntAct

24 interactions, top by confidence:

ABTypeScore
GPR21TMEM120Bpsi-mi:“MI:0914”(association)0.530
TMEM184BINPPL1psi-mi:“MI:0914”(association)0.530
SLC6A8ILVBLpsi-mi:“MI:0914”(association)0.530
BBS4TRAFD1psi-mi:“MI:0914”(association)0.510
PDCD1TMEM223psi-mi:“MI:0914”(association)0.350
ERGIC3TMEM223psi-mi:“MI:0914”(association)0.350
CLEC2DTMEM120Bpsi-mi:“MI:0914”(association)0.350
FPR2GPR89Apsi-mi:“MI:0914”(association)0.350
SLC22A9GPR89Apsi-mi:“MI:0914”(association)0.350
TIMM23PIKFYVEpsi-mi:“MI:0914”(association)0.350
ZFYVE27PSMD11psi-mi:“MI:0914”(association)0.350
LPAR6DEGS1psi-mi:“MI:0914”(association)0.350
ABCG8TSPAN3psi-mi:“MI:0914”(association)0.350
HCSTTMEM120Bpsi-mi:“MI:0914”(association)0.350
CCR6GPR89Apsi-mi:“MI:0914”(association)0.350
MICBTNFRSF10Bpsi-mi:“MI:0914”(association)0.350
GPR182SLC12A8psi-mi:“MI:0914”(association)0.350
SYPHAS3psi-mi:“MI:0914”(association)0.350
TMEM184BSPAG9psi-mi:“MI:0914”(association)0.350
SLC15A3GXYLT2psi-mi:“MI:0914”(association)0.350
SLC19A2TMEM223psi-mi:“MI:0914”(association)0.350
TMEM184BBBS4psi-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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance45
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2307 predictions. Top by Δscore:

VariantEffectΔscore
22:38221707:CGGC:Cacceptor_gain1.0000
22:38221719:C:CTacceptor_gain1.0000
22:38224779:TCATA:Tdonor_loss1.0000
22:38224783:A:Cdonor_loss1.0000
22:38224784:C:CGdonor_loss1.0000
22:38224975:CATGC:Cacceptor_gain1.0000
22:38224976:ATGC:Aacceptor_gain1.0000
22:38224976:ATGCC:Aacceptor_loss1.0000
22:38224977:TGC:Tacceptor_gain1.0000
22:38224977:TGCC:Tacceptor_loss1.0000
22:38224978:GCCT:Gacceptor_loss1.0000
22:38224980:C:CCacceptor_gain1.0000
22:38224980:C:CGacceptor_loss1.0000
22:38225418:GCTCA:Gdonor_loss1.0000
22:38225419:CTCAC:Cdonor_loss1.0000
22:38225420:TCA:Tdonor_loss1.0000
22:38225421:CAC:Cdonor_loss1.0000
22:38225454:TG:Tdonor_gain1.0000
22:38225592:CG:Cacceptor_gain1.0000
22:38225594:C:CCacceptor_gain1.0000
22:38226777:A:ACdonor_gain1.0000
22:38226778:C:CCdonor_gain1.0000
22:38226867:TGGC:Tacceptor_gain1.0000
22:38226869:GCC:Gacceptor_loss1.0000
22:38226870:CCTGT:Cacceptor_loss1.0000
22:38226871:C:CCacceptor_gain1.0000
22:38231242:A:ACdonor_gain1.0000
22:38231243:C:CCdonor_gain1.0000
22:38245929:CCTCA:Cdonor_loss1.0000
22:38245930:CTCAC:Cdonor_loss1.0000

AlphaMissense

2680 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
22:38221625:G:CN356K1.000
22:38221625:G:TN356K1.000
22:38230672:T:AK174N1.000
22:38230672:T:GK174N1.000
22:38221612:A:GY361H0.999
22:38221630:G:CH355D0.999
22:38221635:G:TA353D0.999
22:38221636:C:GA353P0.999
22:38221639:C:GD352H0.999
22:38224825:G:CF314L0.999
22:38224825:G:TF314L0.999
22:38224827:A:GF314L0.999
22:38225542:G:CS223R0.999
22:38225542:G:TS223R0.999
22:38225544:T:GS223R0.999
22:38226863:A:GL178P0.999
22:38230682:C:AR171M0.999
22:38231307:A:GL129P0.999
22:38246059:C:AQ78H0.999
22:38246059:C:GQ78H0.999
22:38246087:A:GL69P0.999
22:38221602:T:CY364C0.998
22:38221611:T:CY361C0.998
22:38221612:A:CY361D0.998
22:38221623:A:GF357S0.998
22:38221638:T:AD352V0.998
22:38221638:T:CD352G0.998
22:38221638:T:GD352A0.998
22:38221650:T:AD348V0.998
22:38226856:G:CF180L0.998

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):

StudyTraitp-value
GCST002667_11Mammographic density (dense area)3.000000e-08
GCST002669_5Percent mammographic density5.000000e-09
GCST010002_82Refractive error2.000000e-13
GCST012226_156Waist circumference adjusted for body mass index1.000000e-11
GCST012231_21A body shape index3.000000e-09

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0005941mammographic density measurement
EFO:0006503dense area measurement
EFO:0006502mammographic density percentage
EFO:0007789BMI-adjusted waist circumference

MeSH disease descriptors (1)

DescriptorNameTree numbers
D009468Neuromuscular DiseasesC10.668

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.

ChemicalActions (top 5)PubMed papers
Acetaminophenincreases expression2
Benzo(a)pyreneaffects methylation, increases methylation2
Tetrachlorodibenzodioxinincreases expression, affects cotreatment2
FR900359increases phosphorylation1
dicrotophosincreases expression1
triphenyl phosphateaffects expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2affects methylation1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic aciddecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Temozolomidedecreases expression1
Air Pollutantsincreases abundance, affects expression1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Doxorubicindecreases expression1
Fluorouracilaffects response to substance1
Methapyrileneincreases methylation1
Ozoneaffects expression, increases abundance1
Plant Extractsaffects cotreatment, decreases expression1
Smokedecreases expression1
Dronabinolincreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Triiodothyronineaffects cotreatment, increases expression1
Valproic Acidincreases expression1
Aflatoxin B1decreases methylation1
Okadaic Acidincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00331656PHASE4UNKNOWNComparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552PHASE4UNKNOWNComparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033PHASE3TERMINATEDEvaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227PHASE3COMPLETEDThe Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108PHASE3COMPLETEDThe Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487PHASE3COMPLETEDPhase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959PHASE3TERMINATEDAn Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096PHASE3COMPLETEDA Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814PHASE3TERMINATEDRepeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631PHASE3COMPLETEDLong-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758PHASE3ACTIVE_NOT_RECRUITINGA Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320PHASE3COMPLETEDEfficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855PHASE3ACTIVE_NOT_RECRUITINGLong-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237PHASE3RECRUITINGA Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359PHASE2TERMINATEDSafety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149PHASE2COMPLETEDPatient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072PHASE2TERMINATEDEvaluation of Vital Capacity
NCT03127514PHASE2COMPLETEDAMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780PHASE2COMPLETEDA Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528PHASE2COMPLETEDAn Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981PHASE2COMPLETEDExtension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580PHASE2RECRUITINGAssessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935PHASE2NOT_YET_RECRUITINGA Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189PHASE2RECRUITINGPhase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00252252PHASE1COMPLETEDAutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741PHASE1UNKNOWNTelemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984PHASE1COMPLETEDTherapeutic Riding and Neuromuscular Disease
NCT01758510PHASE1COMPLETEDSafety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034PHASE1COMPLETEDStudy of Pioglitazone in Sporadic Inclusion Body Myositis
NCT05730842PHASE1COMPLETEDAbsorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT03272802PHASE2/PHASE3UNKNOWNTreatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00860951PHASE1/PHASE2COMPLETEDP300 Brain Computer Interface Keyboard to Operate Assistive Technology
NCT02362425PHASE1/PHASE2COMPLETEDAntioxidant Therapy in RYR1-Related Congenital Myopathy
NCT00001201Not specifiedCOMPLETEDEvaluation of Neuromuscular Disease
NCT00002044Not specifiedCOMPLETEDA Pilot Study To Evaluate the Effect of Retrovir (Zidovudine: AZT) in the Treatment of Human Immunodeficiency Virus (HIV) Associated Dementia and Neuromuscular Diseases
NCT00004553Not specifiedCOMPLETEDElectromyography to Diagnose Neuromuscular Disorders
NCT00015470Not specifiedCOMPLETEDDiagnostic Evaluation of Patients With Neuromuscular Disease
NCT00017745Not specifiedCOMPLETEDPhenotype/Genotype Correlations in Neuromuscular Disorders
NCT00695591Not specifiedCOMPLETEDHome Sleep Testing in Neuromuscular Disease Patients
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuromuscular disease