MOBP
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Summary
MOBP (myelin associated oligodendrocyte basic protein, HGNC:7189) is a protein-coding gene on chromosome 3p22.1, encoding Myelin-associated oligodendrocyte basic protein (Q13875). May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane.
Predicted to be a structural constituent of myelin sheath. Predicted to be involved in nervous system development. Predicted to be located in mitochondrion and perinuclear region of cytoplasm. Implicated in frontotemporal dementia.
Source: NCBI Gene 4336 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 29 total — 1 pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001393704
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7189 |
| Approved symbol | MOBP |
| Name | myelin associated oligodendrocyte basic protein |
| Location | 3p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000168314 |
| Ensembl biotype | protein_coding |
| OMIM | 600948 |
| Entrez | 4336 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 21 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000311042, ENST00000383754, ENST00000415443, ENST00000420739, ENST00000424090, ENST00000428261, ENST00000436143, ENST00000441980, ENST00000442631, ENST00000447324, ENST00000451925, ENST00000452959, ENST00000479860, ENST00000682069, ENST00000684792, ENST00000854240, ENST00000854241, ENST00000854242, ENST00000854243, ENST00000854244, ENST00000854245, ENST00000937495, ENST00000937496, ENST00000954235, ENST00000954236
RefSeq mRNA: 4 — MANE Select: NM_001393704
NM_001278322, NM_001278323, NM_001393704, NM_182935
CCDS: CCDS2687, CCDS2688, CCDS63598
Canonical transcript exons
ENST00000684792 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001693771 | 39502535 | 39503027 |
| ENSE00001735986 | 39502066 | 39502275 |
| ENSE00001738261 | 39480040 | 39480123 |
| ENSE00001773788 | 39467680 | 39467740 |
Expression profiles
Bgee: expression breadth ubiquitous, 201 present calls, max score 99.92.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 26.9796 / max 3213.6831, expressed in 122 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36142 | 23.6474 | 106 |
| 36141 | 2.9672 | 84 |
| 36143 | 0.1548 | 56 |
| 36159 | 0.0884 | 26 |
| 36145 | 0.0543 | 12 |
| 36147 | 0.0426 | 20 |
| 36146 | 0.0186 | 6 |
| 36144 | 0.0064 | 3 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.92 | gold quality |
| cranial nerve II | UBERON:0000941 | 99.90 | gold quality |
| pons | UBERON:0000988 | 99.88 | gold quality |
| corpus callosum | UBERON:0002336 | 99.88 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.86 | gold quality |
| spinal cord | UBERON:0002240 | 99.85 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 99.84 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.83 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.64 | gold quality |
| medial globus pallidus | UBERON:0002477 | 99.62 | gold quality |
| globus pallidus | UBERON:0001875 | 99.57 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.57 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.42 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.35 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 99.32 | gold quality |
| midbrain | UBERON:0001891 | 99.19 | gold quality |
| endothelial cell | CL:0000115 | 99.18 | gold quality |
| amygdala | UBERON:0001876 | 99.17 | gold quality |
| substantia nigra | UBERON:0002038 | 99.16 | gold quality |
| inferior olivary complex | UBERON:0002127 | 99.16 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.12 | gold quality |
| hypothalamus | UBERON:0001898 | 98.76 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.66 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.39 | gold quality |
| putamen | UBERON:0001874 | 98.38 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.91 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.53 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.51 | gold quality |
| parietal lobe | UBERON:0001872 | 97.28 | gold quality |
| temporal lobe | UBERON:0001871 | 97.10 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 2946.35 |
| E-HCAD-35 | yes | 2025.94 |
| E-HCAD-25 | yes | 1911.48 |
| E-GEOD-84465 | yes | 12.84 |
| E-ANND-3 | yes | 6.29 |
| E-MTAB-7303 | no | 2.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
118 targeting MOBP, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-12130 | 99.75 | 65.47 | 452 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
Literature-anchored findings (GeneRIF, showing 12)
- Decreased expression of a number of myelin-related genes, including myelin basic protein (MBP), proteolipid protein (PLP), and myelin-associated oligodendrocyte basic protein (MOBP) was noted in nucleus accumbens of cocaine abusers (PMID:15009677)
- MOBP mRNA levels were increased in the DLPFC white matter in patients with a history of substance abuse. (PMID:17964117)
- Genotypes at MOBP and EIF2AK3 confer risk predominantly in APOE epsilon4-positive subjects, with indications of an interaction between APOE and MOBP or EIF2AK3 on Alzheimer’s disease risk. (PMID:23116876)
- The rs1768208 risk polymorphism in MOBP has prognostic value in behavioral-variant frontotemporal dementia. (PMID:24994843)
- rs1768208 is associated with corticobasal degeneration. (PMID:26077951)
- Mutation in MOBP gene is associated with amyotrophic lateral sclerosis. (PMID:27455348)
- Dentate gyrus volume deficit in schizophrenia. (PMID:31155012)
- Study shoes that myelin-associated oligodendrocytic basic protein immunoreactivity is present in the core of Lewy bodies in Parkinson’s disease and dementia with Lewy Bodies. (PMID:31183926)
- White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. (PMID:31535203)
- MOBP and HIP1 in multiple system atrophy: New alpha-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis. (PMID:33368549)
- Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson’s disease. (PMID:34694630)
- MOBP rs616147 Polymorphism and Risk of Amyotrophic Lateral Sclerosis in a Greek Population: A Case-Control Study. (PMID:34946282)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myripb | ENSDARG00000038814 |
| danio_rerio | myripa | ENSDARG00000075706 |
| mus_musculus | Mobp | ENSMUSG00000032517 |
| rattus_norvegicus | Mobp | ENSRNOG00000018700 |
Paralogs (2): MLPH (ENSG00000115648), MYRIP (ENSG00000170011)
Protein
Protein identifiers
Myelin-associated oligodendrocyte basic protein — Q13875 (reviewed: Q13875)
All UniProt accessions (5): A0A024R2P3, A0A0S2Z3W1, C9JAR7, C9JLT8, Q13875
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane.
Subcellular location. Cytoplasm. Perinuclear region.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13875-1 | 1, OPRP2 | yes |
| Q13875-2 | 2, OPRP1 | |
| Q13875-3 | 3 | |
| Q13875-4 | 4 |
RefSeq proteins (4): NP_001265251, NP_001265252, NP_001380633, NP_891980 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR041282 | FYVE_2 | Domain |
| IPR051745 | Intracell_Transport_Effector | Family |
Pfam: PF02318
UniProt features (20 total): repeat 4, compositionally biased region 4, splice variant 4, sequence conflict 3, modified residue 2, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13875-F1 | 55.69 | 0.00 |
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 (2): 99, 109
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8986944 | Transcriptional Regulation by MECP2 |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 103 (showing top):
ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, MODULE_205, MODULE_206, HNF4_DR1_Q3, chr3p22, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, KANG_IMMORTALIZED_BY_TERT_DN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, TGGAAA_NFAT_Q4_01, LEIN_OLIGODENDROCYTE_MARKERS, GOCC_RIBONUCLEOPROTEIN_GRANULE, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN, HSF2_01, GOMF_STRUCTURAL_MOLECULE_ACTIVITY
GO Biological Process (1): nervous system development (GO:0007399)
GO Molecular Function (2): structural constituent of myelin sheath (GO:0019911), protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Generic Transcription Pathway | 1 |
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| system development | 1 |
| structural molecule activity | 1 |
| myelin sheath | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1126 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MOBP | PLP1 | P04400 | 790 |
| MOBP | CNP | P09543 | 725 |
| MOBP | MBP | P02686 | 635 |
| MOBP | OPALIN | Q96PE5 | 634 |
| MOBP | MOG | Q16653 | 632 |
| MOBP | CLDN11 | O75508 | 589 |
| MOBP | STX6 | O43752 | 583 |
| MOBP | OLIG1 | Q8TAK6 | 582 |
| MOBP | ERMN | Q8TAM6 | 579 |
| MOBP | PLLP | Q9Y342 | 575 |
| MOBP | MAG | P20916 | 567 |
| MOBP | MYRF | Q9Y2G1 | 565 |
| MOBP | OLIG2 | Q13516 | 553 |
| MOBP | UNC13A | Q9UPW8 | 513 |
| MOBP | DRD2 | P14416 | 503 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MOBP | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-9 | MOBP | psi-mi:“MI:0915”(physical association) | 0.720 |
| MOBP | psi-mi:“MI:0915”(physical association) | 0.560 | |
| MOBP | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KRTAP10-5 | MOBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOBP | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOBP | KRTAP10-5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOBP | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOBP | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOBP | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (27): KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-3 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), MEOX2 (Two-hybrid), WAC (Two-hybrid), KRT40 (Two-hybrid), MOBP (Two-hybrid), MOBP (Two-hybrid), MOBP (Two-hybrid)
ESM2 similar proteins: A3EXH0, A3GGT2, A4H824, A7XCE1, A7XCE8, K9N4Q4, O60356, O97965, P03267, P04614, P06921, P0C674, P0C724, P13275, P16909, P24938, P30117, P30415, P36717, P56620, P61927, P61928, P68950, P68951, P79244, P83474, Q09505, Q09507, Q09821, Q13875, Q28337, Q3KSS1, Q3UC65, Q5U2S0, Q5UPY2, Q63327, Q6C0K1, Q6GZN6, Q6UDL8, Q89532
Diamond homologs: A8T6P4, M3WHG5, Q13875, Q63327, Q7TNY7, Q8K3I4, Q8NFW9, Q8VHQ7, Q91V27, Q96C24, Q9BV36, Q9D2P8, Q9R0Q1, Q4VX76, Q80T23, Q812E4, Q8TDW5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1455527 | NC_000003.11:g.(?16710965)(41275270_?)del | Pathogenic |
SpliceAI
783 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:39502040:T:TA | acceptor_gain | 1.0000 |
| 3:39502048:T:A | acceptor_loss | 1.0000 |
| 3:39502048:T:TA | acceptor_gain | 1.0000 |
| 3:39502051:A:AG | acceptor_gain | 1.0000 |
| 3:39502051:ATC:A | acceptor_gain | 1.0000 |
| 3:39502051:ATCG:A | acceptor_gain | 1.0000 |
| 3:39502052:T:G | acceptor_gain | 1.0000 |
| 3:39502053:C:A | acceptor_gain | 1.0000 |
| 3:39502054:G:A | acceptor_gain | 1.0000 |
| 3:39502056:C:CA | acceptor_gain | 1.0000 |
| 3:39502063:CAG:C | acceptor_loss | 1.0000 |
| 3:39502064:AG:A | acceptor_loss | 1.0000 |
| 3:39502064:AGT:A | acceptor_gain | 1.0000 |
| 3:39502065:G:GT | acceptor_gain | 1.0000 |
| 3:39502065:G:T | acceptor_loss | 1.0000 |
| 3:39502065:GT:G | acceptor_gain | 1.0000 |
| 3:39502065:GTG:G | acceptor_gain | 1.0000 |
| 3:39502065:GTGA:G | acceptor_gain | 1.0000 |
| 3:39502272:CCAGG:C | donor_loss | 1.0000 |
| 3:39502273:CAGGT:C | donor_loss | 1.0000 |
| 3:39502274:AGG:A | donor_loss | 1.0000 |
| 3:39502275:GGTA:G | donor_loss | 1.0000 |
| 3:39502276:GTAA:G | donor_loss | 1.0000 |
| 3:39502277:T:G | donor_loss | 1.0000 |
| 3:39513376:A:AG | acceptor_gain | 1.0000 |
| 3:39513379:CCA:C | acceptor_loss | 1.0000 |
| 3:39513380:CA:C | acceptor_loss | 1.0000 |
| 3:39513381:A:AC | acceptor_loss | 1.0000 |
| 3:39513382:G:A | acceptor_loss | 1.0000 |
| 3:39502064:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000008865 (3:39522550 C>T), RS1000039002 (3:39528224 C>T), RS1000055228 (3:39526534 C>T), RS1000173231 (3:39475504 A>G), RS1000182677 (3:39516095 A>G), RS1000206128 (3:39466834 T>C), RS1000230796 (3:39468766 G>A), RS1000236975 (3:39529578 C>T), RS1000256462 (3:39496187 T>C), RS1000258434 (3:39467156 G>A,C), RS1000271066 (3:39527457 G>T), RS1000372507 (3:39472267 C>G,T), RS1000447442 (3:39509788 T>C), RS1000485520 (3:39529847 C>T), RS1000485799 (3:39473634 T>G)
Disease associations
OMIM: gene MIM:600948 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): amyotrophic lateral sclerosis (MONDO:0004976)
Orphanet (1): Amyotrophic lateral sclerosis (Orphanet:803)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0007354 | Amyotrophic lateral sclerosis |
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000246_3 | Attention deficit hyperactivity disorder | 1.000000e-08 |
| GCST000477_32 | Cognitive performance | 4.000000e-06 |
| GCST001116_3 | Progressive supranuclear palsy | 5.000000e-17 |
| GCST001915_5 | Alzheimer’s disease (cognitive decline) | 1.000000e-07 |
| GCST002971_1 | Corticobasal degeneration | 2.000000e-07 |
| GCST004692_2 | Amyotrophic lateral sclerosis | 4.000000e-10 |
| GCST004901_4 | Amyotrophic lateral sclerosis (sporadic) | 2.000000e-08 |
| GCST006418_6 | Progressive supranuclear palsy | 7.000000e-19 |
| GCST008557_1 | Dentate gyrus volume x schizophrenia interaction | 5.000000e-08 |
| GCST010698_19 | Subcortical volume (min-P) | 1.000000e-08 |
| GCST010699_88 | Brain morphology (min-P) | 1.000000e-13 |
| GCST010701_114 | Cortical surface area (MOSTest) | 1.000000e-11 |
| GCST010702_154 | Subcortical volume (MOSTest) | 5.000000e-30 |
| GCST010703_213 | Brain morphology (MOSTest) | 3.000000e-11 |
| GCST90000025_734 | Appendicular lean mass | 2.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003926 | neuropsychological test |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000690 | Amyotrophic Lateral Sclerosis | C10.228.854.139; C10.574.562.250; C10.574.950.050; C10.668.467.250; C18.452.845.800.050 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs616147 | Efficacy | 3 | creatine | Amyotrophic Lateral Sclerosis |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs616147 | MOBP | 3 | 2.00 | 1 | creatine |
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| bisphenol A | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Mercuric Chloride | increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00542412 | PHASE4 | COMPLETED | CARE Canadian ALS Riluzole Evaluation |
| NCT00560287 | PHASE4 | UNKNOWN | Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis |
| NCT00613899 | PHASE4 | COMPLETED | Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) |
| NCT04997954 | PHASE4 | UNKNOWN | EMERALD TRIAL Open Label Extension Study |
| NCT06849115 | PHASE4 | COMPLETED | Effects of L-Carnitine in Amyotrophic Lateral Sclerosis Patients With CHCHD10 Mutations |
| NCT07223723 | PHASE4 | RECRUITING | A Study to Learn More About the Long-Term Safety of Tofersen (Qalsody) in Chinese Participants With SOD-1 Amyotrophic Lateral Sclerosis (ALS) |
| NCT00021697 | PHASE3 | COMPLETED | Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS |
| NCT00035815 | PHASE3 | COMPLETED | Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial |
| NCT00047723 | PHASE3 | COMPLETED | Minocycline to Treat Amyotrophic Lateral Sclerosis |
| NCT00069186 | PHASE3 | UNKNOWN | Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis |
| NCT00136110 | PHASE3 | COMPLETED | Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis |
| NCT00330681 | PHASE3 | COMPLETED | Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) |
| NCT00349622 | PHASE3 | COMPLETED | Clinical Trial Ceftriaxone in Subjects With ALS |
| NCT00372879 | PHASE3 | COMPLETED | Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS |
| NCT00415519 | PHASE3 | COMPLETED | Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III |
| NCT00424463 | PHASE3 | COMPLETED | Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS) |
| NCT00839033 | PHASE3 | TERMINATED | Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders |
| NCT00868166 | PHASE3 | COMPLETED | Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From ALS |
| NCT00965497 | PHASE3 | COMPLETED | Escitalopram (Lexapro) for Depression MS or ALS |
| NCT01016522 | PHASE3 | TERMINATED | Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS) |
| NCT01160263 | PHASE3 | COMPLETED | Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls |
| NCT01281189 | PHASE3 | COMPLETED | Phase 3 Study of Dexpramipexole in ALS |
| NCT01492686 | PHASE3 | COMPLETED | Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis |
| NCT01583088 | PHASE3 | TERMINATED | Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation |
| NCT01622088 | PHASE3 | TERMINATED | Phase 3 Extension Study of Dexpramipexole in ALS |
| NCT02496767 | PHASE3 | COMPLETED | Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year |
| NCT02623699 | PHASE3 | COMPLETED | An Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BIIB067 (Tofersen) in Adults With Inherited Amyotrophic Lateral Sclerosis (ALS) |
| NCT02936635 | PHASE3 | COMPLETED | A Study for Patients Who Completed VITALITY-ALS (CY 4031) |
| NCT03127267 | PHASE3 | RECRUITING | Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients |
| NCT03280056 | PHASE3 | COMPLETED | Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients |
| NCT03491462 | PHASE3 | COMPLETED | Arimoclomol in Amyotropic Lateral Sclerosis |
| NCT03505021 | PHASE3 | COMPLETED | Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS |
| NCT03548311 | PHASE3 | COMPLETED | Clinical Trial of Ultra-high Dose Methylcobalamin for ALS |
| NCT03690791 | PHASE3 | UNKNOWN | Efficacy of Cannabinoids in Amyotrophic Lateral Sclerosis or Motor Neurone Disease |
| NCT03800524 | PHASE3 | UNKNOWN | Safety and Efficacy of TUDCA as add-on Treatment in Patients Affected by ALS |
| NCT03836716 | PHASE3 | TERMINATED | Arimoclomol in Amyotropic Lateral Sclerosis - Open Label Extension Trial |
| NCT03948178 | PHASE3 | TERMINATED | Effects of Oral Levosimendan on Respiratory Function in Patients With Amyotrophic Lateral Sclerosis (ALS): Open-Label Extension |
| NCT04165824 | PHASE3 | COMPLETED | Safety Study of Oral Edaravone Administered in Subjects With ALS |
| NCT04248465 | PHASE3 | TERMINATED | An Efficacy and Safety Study of Ravulizumab in ALS Participants |
| NCT04569084 | PHASE3 | TERMINATED | Efficacy and Safety Study of Oral Edaravone Administered in Subjects With ALS |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amyotrophic lateral sclerosis, corticobasal degeneration disorder, progressive supranuclear palsy