TMEM106A
geneOn this page
Also known as MGC20235
Summary
TMEM106A (transmembrane protein 106A, HGNC:28288) is a protein-coding gene on chromosome 17q21.31, encoding Transmembrane protein 106A (Q96A25). Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway.
Predicted to be involved in several processes, including positive regulation of intracellular signal transduction; positive regulation of macromolecule biosynthetic process; and positive regulation of nitric oxide metabolic process. Predicted to be located in plasma membrane.
Source: NCBI Gene 113277 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 45 total — 1 pathogenic
- MANE Select transcript:
NM_145041
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28288 |
| Approved symbol | TMEM106A |
| Name | transmembrane protein 106A |
| Location | 17q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20235 |
| Ensembl gene | ENSG00000184988 |
| Ensembl biotype | protein_coding |
| Entrez | 113277 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000536052, ENST00000541594, ENST00000586685, ENST00000588659, ENST00000588693, ENST00000592564, ENST00000592649, ENST00000612339, ENST00000876775, ENST00000876776, ENST00000876777, ENST00000876778, ENST00000959741, ENST00000959742, ENST00000959743
RefSeq mRNA: 4 — MANE Select: NM_145041
NM_001291586, NM_001291587, NM_001291588, NM_145041
CCDS: CCDS11462, CCDS74073, CCDS77039
Canonical transcript exons
ENST00000612339 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001609329 | 43211875 | 43211922 |
| ENSE00001627792 | 43216449 | 43216589 |
| ENSE00001673223 | 43212227 | 43212394 |
| ENSE00001753477 | 43217259 | 43217312 |
| ENSE00001777391 | 43216697 | 43216740 |
| ENSE00003523798 | 43215788 | 43215941 |
| ENSE00003616329 | 43213021 | 43213252 |
| ENSE00003622393 | 43213828 | 43213891 |
| ENSE00003741162 | 43217681 | 43220041 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 93.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.0225 / max 368.5293, expressed in 1604 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161065 | 11.9088 | 1602 |
| 161066 | 0.1136 | 38 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 93.54 | gold quality |
| renal medulla | UBERON:0000362 | 89.74 | gold quality |
| pylorus | UBERON:0001166 | 87.85 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 87.42 | gold quality |
| monocyte | CL:0000576 | 84.46 | gold quality |
| tibia | UBERON:0000979 | 84.22 | gold quality |
| leukocyte | CL:0000738 | 84.14 | gold quality |
| bone marrow cell | CL:0002092 | 82.98 | gold quality |
| kidney | UBERON:0002113 | 82.66 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.23 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.14 | gold quality |
| parietal pleura | UBERON:0002400 | 82.12 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 81.99 | gold quality |
| trachea | UBERON:0003126 | 81.87 | gold quality |
| adult organism | UBERON:0007023 | 81.83 | gold quality |
| thymus | UBERON:0002370 | 81.52 | gold quality |
| visceral pleura | UBERON:0002401 | 81.38 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.14 | gold quality |
| granulocyte | CL:0000094 | 80.90 | gold quality |
| caecum | UBERON:0001153 | 80.64 | gold quality |
| cortex of kidney | UBERON:0001225 | 80.47 | gold quality |
| blood | UBERON:0000178 | 80.16 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 79.81 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 79.75 | gold quality |
| amniotic fluid | UBERON:0000173 | 79.69 | gold quality |
| superior surface of tongue | UBERON:0007371 | 79.67 | gold quality |
| sural nerve | UBERON:0015488 | 79.59 | gold quality |
| synovial joint | UBERON:0002217 | 79.55 | gold quality |
| pericardium | UBERON:0002407 | 79.54 | gold quality |
| lymph node | UBERON:0000029 | 79.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting TMEM106A, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-6790-5P | 99.77 | 65.24 | 505 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
Literature-anchored findings (GeneRIF, showing 1)
- Low TMEM106A expression is associated with gastric cancer. (PMID:24975047)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tmem106a | ENSMUSG00000034947 |
| rattus_norvegicus | Tmem106a | ENSRNOG00000023628 |
Protein
Protein identifiers
Transmembrane protein 106A — Q96A25 (reviewed: Q96A25)
All UniProt accessions (3): Q96A25, B7Z779, K7ERE2
UniProt curated annotations — full annotation on UniProt →
Function. Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway. Upon activation, up-regulates the expression of CD80, CD86, CD69 and MHC II on macrophages, and induces the release of pro-inflammatory cytokines such as TNF, IL1B, IL6, CCL2 and nitric oxide. May play a role in inhibition of proliferation and migration.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in renal cells (at protein level). Expressed in epithelial cells.
Similarity. Belongs to the TMEM106 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96A25-1 | 1 | yes |
| Q96A25-2 | 2 |
RefSeq proteins (4): NP_001278515, NP_001278516, NP_001278517, NP_659478* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009790 | TMEM106 | Family |
| IPR048509 | TMEM106_C | Domain |
| IPR048511 | TMEM106_N | Domain |
Pfam: PF07092, PF21002
UniProt features (3 total): chain 1, transmembrane region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A25-F1 | 76.10 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 134 (showing top):
GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_INTERLEUKIN_1_PRODUCTION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GCM_MYCL1, GOBP_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION, GCM_PRKCG, GCM_RING1, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GCM_DPF2, GOBP_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION
GO Biological Process (11): glycoprotein biosynthetic process (GO:0009101), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), macrophage activation (GO:0042116), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), positive regulation of MAPK cascade (GO:0043410), innate immune response (GO:0045087), positive regulation of MHC class II biosynthetic process (GO:0045348), obsolete positive regulation of nitric oxide metabolic process (GO:1904407), immune system process (GO:0002376)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of intracellular signal transduction | 2 |
| cellular anatomical structure | 2 |
| macromolecule biosynthetic process | 1 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| interleukin-1 beta production | 1 |
| regulation of interleukin-1 beta production | 1 |
| positive regulation of interleukin-1 production | 1 |
| positive regulation of cytokine production | 1 |
| interleukin-6 production | 1 |
| regulation of interleukin-6 production | 1 |
| tumor necrosis factor production | 1 |
| regulation of tumor necrosis factor production | 1 |
| positive regulation of tumor necrosis factor superfamily cytokine production | 1 |
| myeloid leukocyte activation | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| MHC class II biosynthetic process | 1 |
| regulation of MHC class II biosynthetic process | 1 |
| biological_process | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
492 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM106A | TAF11L5 | A0A1W2PP81 | 644 |
| TMEM106A | TAF11L4 | A0A1W2PPE2 | 644 |
| TMEM106A | TAF11L3 | A0A1W2PRV1 | 644 |
| TMEM106A | TAF11L2 | A6NLC8 | 572 |
| TMEM106A | A0A1W2PRN6 | A0A1W2PRN6 | 541 |
| TMEM106A | FAM81B | Q96LP2 | 443 |
| TMEM106A | BST2 | Q10589 | 410 |
| TMEM106A | KREMEN1 | Q96MU8 | 408 |
| TMEM106A | FAM110B | Q8TC76 | 403 |
| TMEM106A | CLLU1-AS1 | Q5K130 | 399 |
| TMEM106A | ENKUR | Q8TC29 | 362 |
| TMEM106A | TMEM209 | Q96SK2 | 359 |
| TMEM106A | TMEM229A | B2RXF0 | 358 |
| TMEM106A | SLFN5 | Q08AF3 | 355 |
| TMEM106A | FAM156A | Q8NDB6 | 348 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM106A | TMEM106C | psi-mi:“MI:0915”(physical association) | 0.670 |
| GOSR2 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM106A | TNMD | psi-mi:“MI:0915”(physical association) | 0.560 |
| IGFBP5 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJB2 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM128 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENTPD3 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM86B | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM106A | ERG28 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM107 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM106A | B4GALT3 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM106A | ARF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM106A | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GOSR2 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNMD | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| IGFBP5 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| GJB2 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TSPAN4 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM106A | TMEM106C | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM128 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| ENTPD3 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM86B | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
| ERG28 | TMEM106A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (215): TMEM106A (Reconstituted Complex), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TSPAN4 (Two-hybrid), TMEM106A (Negative Genetic), EPHB4 (Affinity Capture-MS), TPST2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0B4J1F4, A6NEK1, G3X9X1, O14972, O15344, O15519, O35075, O70263, O70583, O94955, P82457, P82458, Q2HY40, Q2TBA3, Q32KX1, Q32NJ2, Q497K5, Q4VX76, Q54DI8, Q568M3, Q5M7W1, Q5R5L7, Q5R811, Q5R8Q5, Q5RD56, Q5RDY3, Q5RF33, Q60584, Q62807, Q6TXF1, Q6ZWE6, Q7TP90, Q7TPQ9, Q7ZX59, Q80WG7, Q8BG60, Q8BM47, Q8IY47, Q8NCT1, Q8W4D4
Diamond homologs: Q1LWC2, Q3T144, Q3ZC25, Q5BK83, Q5EA90, Q5RJK0, Q6AYA5, Q80VP8, Q80X71, Q8VC04, Q96A25, Q9BVX2, Q9NUM4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1713241 | NC_000017.10:g.41221355_41380248del | Pathogenic |
SpliceAI
1472 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:43213019:A:AG | acceptor_gain | 1.0000 |
| 17:43213020:G:GG | acceptor_gain | 1.0000 |
| 17:43213020:GT:G | acceptor_gain | 1.0000 |
| 17:43215861:C:CA | acceptor_gain | 1.0000 |
| 17:43215918:GCTGA:G | donor_gain | 1.0000 |
| 17:43215942:GTGG:G | donor_gain | 1.0000 |
| 17:43216448:GA:G | acceptor_gain | 1.0000 |
| 17:43216448:GAAT:G | acceptor_gain | 1.0000 |
| 17:43216696:GAT:G | acceptor_gain | 1.0000 |
| 17:43216738:ATA:A | donor_gain | 1.0000 |
| 17:43216739:TA:T | donor_gain | 1.0000 |
| 17:43216741:G:GG | donor_gain | 1.0000 |
| 17:43217258:GCAAA:G | acceptor_gain | 1.0000 |
| 17:43217313:G:GG | donor_gain | 1.0000 |
| 17:43213019:AGT:A | acceptor_gain | 0.9900 |
| 17:43213020:GTG:G | acceptor_gain | 0.9900 |
| 17:43213020:GTGAA:G | acceptor_gain | 0.9900 |
| 17:43213826:A:AG | acceptor_gain | 0.9900 |
| 17:43213827:G:GG | acceptor_gain | 0.9900 |
| 17:43213827:GA:G | acceptor_gain | 0.9900 |
| 17:43213827:GAGCT:G | acceptor_gain | 0.9900 |
| 17:43213892:G:GG | donor_gain | 0.9900 |
| 17:43215938:AACG:A | donor_loss | 0.9900 |
| 17:43216445:CCAGA:C | acceptor_loss | 0.9900 |
| 17:43216446:CA:C | acceptor_loss | 0.9900 |
| 17:43216447:A:AC | acceptor_loss | 0.9900 |
| 17:43216447:A:AG | acceptor_gain | 0.9900 |
| 17:43216448:G:GA | acceptor_gain | 0.9900 |
| 17:43216448:GAA:G | acceptor_gain | 0.9900 |
| 17:43216448:GAATA:G | acceptor_gain | 0.9900 |
AlphaMissense
1707 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:43213855:T:C | I80T | 0.973 |
| 17:43217266:T:C | C208R | 0.972 |
| 17:43215819:T:C | C103R | 0.971 |
| 17:43217268:T:G | C208W | 0.970 |
| 17:43217751:T:A | C247S | 0.970 |
| 17:43217752:G:C | C247S | 0.970 |
| 17:43217266:T:A | C208S | 0.968 |
| 17:43217267:G:C | C208S | 0.968 |
| 17:43217682:G:C | G224R | 0.968 |
| 17:43217267:G:A | C208Y | 0.967 |
| 17:43217689:T:C | L226P | 0.964 |
| 17:43217751:T:C | C247R | 0.964 |
| 17:43217753:C:G | C247W | 0.958 |
| 17:43216469:T:A | N150K | 0.957 |
| 17:43216469:T:G | N150K | 0.957 |
| 17:43216501:T:C | L161P | 0.954 |
| 17:43213855:T:G | I80S | 0.950 |
| 17:43217752:G:A | C247Y | 0.947 |
| 17:43213216:T:C | C59R | 0.946 |
| 17:43217683:G:A | G224D | 0.945 |
| 17:43213874:G:C | R86S | 0.944 |
| 17:43213874:G:T | R86S | 0.944 |
| 17:43215931:T:C | L140P | 0.942 |
| 17:43216475:C:A | N152K | 0.942 |
| 17:43216475:C:G | N152K | 0.942 |
| 17:43213876:T:C | L87P | 0.940 |
| 17:43216456:T:C | L146S | 0.940 |
| 17:43213855:T:A | I80N | 0.938 |
| 17:43217727:T:C | F239L | 0.931 |
| 17:43217729:T:A | F239L | 0.931 |
dbSNP variants (sampled 300 via entrez): RS1000105420 (17:43218586 G>A), RS1000136495 (17:43218897 C>T), RS1000902714 (17:43211013 T>C), RS1001356619 (17:43211313 T>C), RS1001576724 (17:43214263 G>A,C), RS1001918905 (17:43212537 C>A,T), RS1001961765 (17:43218201 C>G,T), RS1002237114 (17:43211383 G>A), RS1002374664 (17:43219696 C>T), RS1003513529 (17:43212678 T>A), RS1003577998 (17:43212307 G>A,T), RS1003637719 (17:43219849 C>G,T), RS1004886863 (17:43213749 C>A,T), RS1004939273 (17:43214082 G>A), RS1005613838 (17:43217583 A>G)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:604370
GenCC curated gene-disease
Mondo (2): breast-ovarian cancer, familial, susceptibility to, 1 (MONDO:0011450), neuromuscular disease (MONDO:0019056)
Orphanet (2): Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Neuromuscular disease (Orphanet:68381)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_2771 | Blood protein levels | 9.000000e-08 |
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
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression | 2 |
| Estradiol | decreases expression | 2 |
| Nickel | increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| ICG 001 | increases expression | 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 | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Lead | increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, affects cotreatment, decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Thiram | increases expression | 1 |
| Zinc | 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 |
| NCT02436096 | PHASE3 | COMPLETED | A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia |
| NCT02829814 | PHASE3 | TERMINATED | Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia |
| NCT03179631 | PHASE3 | COMPLETED | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy |
| NCT05126758 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy |
| NCT05156320 | PHASE3 | COMPLETED | Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam |
| NCT05337553 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy |
| NCT05626855 | PHASE3 | ACTIVE_NOT_RECRUITING | Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab |
| NCT06672237 | PHASE3 | RECRUITING | A Phase 3 Study of NTLA-2001 in ATTRv-PN |
| NCT01074359 | PHASE2 | TERMINATED | Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation |
| NCT01371149 | PHASE2 | COMPLETED | Patient -Ventilator Interaction in Chronic Respiratory Failure |
| NCT02022072 | PHASE2 | TERMINATED | Evaluation of Vital Capacity |
| NCT03127514 | PHASE2 | COMPLETED | AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS) |
| NCT03406780 | PHASE2 | COMPLETED | A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy |
| NCT03921528 | PHASE2 | COMPLETED | An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy |
| NCT05479981 | PHASE2 | COMPLETED | Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients |
| NCT06339580 | PHASE2 | RECRUITING | Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease |
| NCT07071935 | PHASE2 | NOT_YET_RECRUITING | A Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS) |
| NCT07287189 | PHASE2 | RECRUITING | Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients |
| NCT00252252 | PHASE1 | COMPLETED | AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation |
| NCT01560741 | PHASE1 | UNKNOWN | Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation |
| NCT01621984 | PHASE1 | COMPLETED | Therapeutic Riding and Neuromuscular Disease |
| NCT01758510 | PHASE1 | COMPLETED | Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis |
| NCT03440034 | PHASE1 | COMPLETED | Study of Pioglitazone in Sporadic Inclusion Body Myositis |
| NCT05730842 | PHASE1 | COMPLETED | Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers |
| NCT03272802 | PHASE2/PHASE3 | UNKNOWN | Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) |
| NCT00860951 | PHASE1/PHASE2 | COMPLETED | P300 Brain Computer Interface Keyboard to Operate Assistive Technology |
| NCT02362425 | PHASE1/PHASE2 | COMPLETED | Antioxidant Therapy in RYR1-Related Congenital Myopathy |
| NCT00001201 | Not specified | COMPLETED | Evaluation of Neuromuscular Disease |
| NCT00002044 | Not specified | COMPLETED | A Pilot Study To Evaluate the Effect of Retrovir (Zidovudine: AZT) in the Treatment of Human Immunodeficiency Virus (HIV) Associated Dementia and Neuromuscular Diseases |
| NCT00004553 | Not specified | COMPLETED | Electromyography to Diagnose Neuromuscular Disorders |
| NCT00015470 | Not specified | COMPLETED | Diagnostic Evaluation of Patients With Neuromuscular Disease |
| NCT00017745 | Not specified | COMPLETED | Phenotype/Genotype Correlations in Neuromuscular Disorders |
| NCT00695591 | Not specified | COMPLETED | Home Sleep Testing in Neuromuscular Disease Patients |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast-ovarian cancer, familial, susceptibility to, 1, neuromuscular disease