MYH10
gene geneOn this page
Also known as NMMHCB
Summary
MYH10 (myosin heavy chain 10, HGNC:7568) is a protein-coding gene on chromosome 17p13.1, encoding Myosin-10 (P35580). Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 4628 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder with or without congenital anomalies (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 1
- Clinical variants (ClinVar): 334 total — 4 pathogenic, 7 likely-pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes — 2 molecules with ChEMBL bioactivity
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_001256012
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7568 |
| Approved symbol | MYH10 |
| Name | myosin heavy chain 10 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NMMHCB |
| Ensembl gene | ENSG00000133026 |
| Ensembl biotype | protein_coding |
| OMIM | 160776 |
| Entrez | 4628 |
Gene structure
Transcript identifiers
Ensembl transcripts: 57 — 34 protein_coding, 19 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000269243, ENST00000360416, ENST00000379980, ENST00000411957, ENST00000459986, ENST00000465458, ENST00000469865, ENST00000472728, ENST00000476737, ENST00000488329, ENST00000584124, ENST00000684843, ENST00000685418, ENST00000685631, ENST00000685736, ENST00000685884, ENST00000686521, ENST00000686654, ENST00000686956, ENST00000687178, ENST00000687661, ENST00000688497, ENST00000688902, ENST00000689318, ENST00000690548, ENST00000690895, ENST00000691566, ENST00000692077, ENST00000692526, ENST00000692894, ENST00000693441, ENST00000693704, ENST00000916044, ENST00000916045, ENST00000916046, ENST00000916047, ENST00000916048, ENST00000916049, ENST00000916050, ENST00000916051, ENST00000916052, ENST00000916053, ENST00000916054, ENST00000916055, ENST00000916056, ENST00000916057, ENST00000916058, ENST00000916059, ENST00000916060, ENST00000916061, ENST00000916062, ENST00000916063, ENST00000916064, ENST00000916065, ENST00000955183, ENST00000955184, ENST00000955185
RefSeq mRNA: 4 — MANE Select: NM_001256012
NM_001256012, NM_001256095, NM_001375266, NM_005964
CCDS: CCDS11144, CCDS58515, CCDS73984, CCDS92256
Canonical transcript exons
ENST00000360416 — 43 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000034 | 8630654 | 8630725 |
| ENSE00000948819 | 8542107 | 8542280 |
| ENSE00000948828 | 8513786 | 8513894 |
| ENSE00000948831 | 8513538 | 8513669 |
| ENSE00000948832 | 8512451 | 8512657 |
| ENSE00000948833 | 8509812 | 8509949 |
| ENSE00000948835 | 8506318 | 8506489 |
| ENSE00000948836 | 8504694 | 8504906 |
| ENSE00000948837 | 8500826 | 8500970 |
| ENSE00000948838 | 8499270 | 8499476 |
| ENSE00001061754 | 8535758 | 8535931 |
| ENSE00001104401 | 8492297 | 8492509 |
| ENSE00001104414 | 8476876 | 8477048 |
| ENSE00001104417 | 8495137 | 8495241 |
| ENSE00001104424 | 8478338 | 8478446 |
| ENSE00001104433 | 8493733 | 8493885 |
| ENSE00001104437 | 8492776 | 8493024 |
| ENSE00001104460 | 8490340 | 8490552 |
| ENSE00001104470 | 8481322 | 8481410 |
| ENSE00001104483 | 8518631 | 8518791 |
| ENSE00001104491 | 8521092 | 8521285 |
| ENSE00001104499 | 8487433 | 8487594 |
| ENSE00001104513 | 8484138 | 8484266 |
| ENSE00001126513 | 8545448 | 8545600 |
| ENSE00001126517 | 8546544 | 8546662 |
| ENSE00001404859 | 8576643 | 8576672 |
| ENSE00001483259 | 8474224 | 8475948 |
| ENSE00001524390 | 8530623 | 8530685 |
| ENSE00001691289 | 8518881 | 8518950 |
| ENSE00001713158 | 8604826 | 8604982 |
| ENSE00001734045 | 8520878 | 8520999 |
| ENSE00001736135 | 8535387 | 8535501 |
| ENSE00001741403 | 8553955 | 8554018 |
| ENSE00003460270 | 8508554 | 8508677 |
| ENSE00003479454 | 8548644 | 8548787 |
| ENSE00003504647 | 8552046 | 8552144 |
| ENSE00003544052 | 8589081 | 8589108 |
| ENSE00003561960 | 8577236 | 8577338 |
| ENSE00003577774 | 8548313 | 8548408 |
| ENSE00003580582 | 8480110 | 8480318 |
| ENSE00003617403 | 8569720 | 8569812 |
| ENSE00003650374 | 8480402 | 8480525 |
| ENSE00003923705 | 8622902 | 8623277 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 99.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.5697 / max 997.9248, expressed in 1552 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164439 | 27.2661 | 1503 |
| 164441 | 5.3053 | 1395 |
| 164442 | 1.5403 | 776 |
| 164443 | 0.7515 | 434 |
| 164440 | 0.5475 | 333 |
| 164444 | 0.1591 | 56 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood vessel layer | UBERON:0004797 | 99.92 | gold quality |
| saphenous vein | UBERON:0007318 | 99.44 | gold quality |
| right coronary artery | UBERON:0001625 | 99.36 | gold quality |
| ascending aorta | UBERON:0001496 | 99.31 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.30 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.08 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.04 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.81 | gold quality |
| vena cava | UBERON:0004087 | 98.80 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.76 | gold quality |
| visceral pleura | UBERON:0002401 | 98.74 | gold quality |
| pleura | UBERON:0000977 | 98.47 | gold quality |
| endothelial cell | CL:0000115 | 98.45 | gold quality |
| parietal pleura | UBERON:0002400 | 98.42 | gold quality |
| aorta | UBERON:0000947 | 98.39 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.09 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.05 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.99 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.91 | gold quality |
| parietal lobe | UBERON:0001872 | 97.90 | gold quality |
| placenta | UBERON:0001987 | 97.89 | gold quality |
| coronary artery | UBERON:0001621 | 97.85 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.77 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.75 | gold quality |
| artery | UBERON:0001637 | 97.73 | gold quality |
| popliteal artery | UBERON:0002250 | 97.72 | gold quality |
| tibial artery | UBERON:0007610 | 97.71 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.70 | gold quality |
| renal medulla | UBERON:0000362 | 97.69 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.65 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 4510.98 |
| E-HCAD-36 | yes | 2422.09 |
| E-MTAB-8530 | yes | 367.90 |
| E-HCAD-10 | yes | 62.61 |
| E-CURD-112 | yes | 43.33 |
| E-HCAD-6 | yes | 42.18 |
| E-CURD-46 | yes | 9.64 |
| E-GEOD-124472 | no | 913.35 |
| E-CURD-97 | no | 205.97 |
| E-MTAB-9689 | no | 201.57 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, EGR1, GLI3, HHEX, HOXB7, KLF4, KLF5, KLF9, MEF2A, MEF2C, MEF2D, POU2F1, RUNX1, ZNF91
miRNA regulators (miRDB)
148 targeting MYH10, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
Functional genomics
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- analysis of kinetic mechanism of non-muscle myosin IIB (PMID:12704189)
- anillin has a role in spatially regulating the contractile activity of myosin II during cytokinesis (PMID:15496454)
- In leukocytes, the activity of non-muscle myosin II is essential for cell migration, and it is not essential for tumor cell migration. (PMID:15619008)
- Assessment of solubility of a series of truncated recombinant rod fragments of nonmuscle myosin IIB at various concentrations of NaCl. (PMID:15628858)
- mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C (PMID:15845534)
- SMemb/NMMHC-B is expressed in proliferating smooth muscle cells and correlates with phenotypic changes from a contractive to a proliferative type. The stromal cells of the prostate play a role in the regulation of prostatic growth and function. (PMID:16257837)
- These results indicate that PKCgamma regulates NMHC-IIB phosphorylation and cellular localization in response to EGF stimulation. (PMID:16394101)
- Myosin II-B resides in a complex with p21-activated kinase 1 (PAK1) and atypical protein kinase C (PKC) zeta (aPKCzeta) and the interaction between these proteins is EGF-dependent. (PMID:16611744)
- myosin IIA and IIB isoforms are regulated by different signaling pathways to perform distinct cellular activities (PMID:17020881)
- estrogen increases NMM-II-B MgATPase activity independent of NMM-II-B filamentation status (PMID:17023528)
- The N-terminal 57 residues (N-57) and C-terminal 63 residues (C-63) of C-terminal 305-residue rod fragment of the myosin IIB heavy chain (BRF305) are involved in self-recognition when myosin IIB molecules assemble into homo-filament. (PMID:17202408)
- downregulation of myosin II-B, the major myosin isoform in neurons, is able to increase Abeta deposition, concomitantly altering the subcellular localization of APP (PMID:17727819)
- MHC expression profile in the CXMDJ diaphragm differed from that in mdx mice. This indicates the dystrophic dog is a more appropriate model to investiagte respiratory failure in dystrophin deficiency. (PMID:18182116)
- We conclude that myosin II regulates the spherical shape of epithelial cysts by controlling actin polymerization at the cyst surface. (PMID:18460584)
- Expression of full-length human NMHC-IIA and -IIB in 10 T1/2 cells demonstrated that flectin antibody recognizes both isoforms (PMID:18697221)
- Data show that swapping a small C-terminal portion of the tail between myosin IIA and IIB inverts the distinct distribution of these isoforms in migrating cells. (PMID:18843042)
- cMyBP-C phosphorylation is necessary for basal myocardial function in the beta-MyHC background and can preserve function after ischemia/reperfusion injury (PMID:19237661)
- Myosin II tailpiece determines its paracrystal structure, filament assembly properties, and cellular localization (PMID:19553683)
- Data suggest a role for NM IIB in TNFR1 endocytosis and the formation of the death inducing signaling complex (DISC). (PMID:20564232)
- Data suggest that myosin-II and ERM proteins modulate mechanical properties in oocytes, contributing to cell polarity and to completion of meiosis. (PMID:20660156)
- Data conclude that P-cadherin counteracts the expression and function of myosin II-B, resulting in the suppression of the invasive and migratory behaviour of BLM melanoma cells. (PMID:20860798)
- Results suggest that IIA and IIB can form hetero-filaments in an isoform-independent manner, and that a factor like Mts1 can remove one isoform from the hetero-filament, resulting in a formation of homo-filaments consisting of another isoform. (PMID:21106542)
- a signaling complex containing c-Cbl and myosin IIA plays a crucial role in blebbing and macropinocytosis during viral infection in KSHV infection. (PMID:21203488)
- In the context of inflammation, myeloid cells may limit axonal repair in the central nervous system via a myosin II-dependent mechanism. (PMID:21737147)
- Increased NMM (nonmuscle myosin II) IIA, NMM IIB and AT expression in keloid fibroblasts compared with scant staining in normal surrounding dermis, is reported. (PMID:21792479)
- Data show that inhibition of non-muscle myosin II ATPase by blebbistatin completely blocks enucleation of human erythroblasts; results suggest that NMMHC-IIB is synthesized in erythroblasts and is required for erythroblast enucleation. (PMID:22049517)
- MYH10 detection is associated with inherited platelet disorders and myeloid neoplasms with abnormalities in RUNX1 and FLI1. (PMID:22677128)
- The myosin-IIB is unpolarized in cells on soft matrix in 2D and also within soft 3D collagen, with rearward polarization of MIIB emerging only as cells migrate from soft to stiff matrix. (PMID:23128239)
- The data show that although NM IIA and IIB form filaments with similar properties, NM IIC forms filaments that are less well suited to roles such as tension maintenance within the cell. (PMID:24072716)
- Supervillin concentrates activated and total myosin II at the furrow, and simultaneous knockdown of supervillin and anillin additively increases cell division failure. (PMID:24088567)
- The findings suggest that elevated NMHCIIb levels contribute to meningioma tumor formation and progression. (PMID:24858044)
- cellular quiescence induces Mec17 to couple the production of acetylated microtubules and Myh10, whose accumulation overcomes the inhibitory role of Myh9 and initiates ciliogenesis (PMID:25494100)
- Myosin isoforms impact single-fiber force generation and may lead to alterations in whole skeletal muscle performance. (PMID:25567808)
- A receptor type-protein tyrosine phosphatase alpha-Src family kinase-Rap1 pathway was identified as responsible for recruiting myosin IIB to the zonula adherens in epithelial cells and supporting contractile tension. (PMID:25631816)
- The role of nonmuscle myosin II (NMII)-B in front-back migratory cell polarity is controlled by a short stretch of amino acids containing five serines. (PMID:25869664)
- Our results indicate that MYH10 contributes to ciliogenesis in RPE1 cells by promoting cortical actin-dependent centriole migration. (PMID:25881509)
- myosin IIA and IIB heavy chains play distinct and non-redundant roles in matrix remodeling (PMID:26136073)
- Data show that myosin II supports a stable Rho zone at the at E-cadherin junctions. (PMID:26368311)
- We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10) in probands but none in siblings. We find a strong ascertainment bias for mosaic mutations in probands relative to their unaffected siblings (PMID:27632392)
- Myosin IIA and IIB are essential for the formation of transverse arcs and ventral stress fibers, respectively. Furthermore, the study illustrated the roles of both isoforms in lamellar flattening and also raised the possibility that actin filaments in ventral stress fibers are in a stretched conformation. (PMID:29467250)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myh10 | ENSDARG00000000103 |
| mus_musculus | Myh10 | ENSMUSG00000020900 |
| rattus_norvegicus | Myh10 | ENSRNOG00000002886 |
Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)
Protein
Protein identifiers
Myosin-10 — P35580 (reviewed: P35580)
Alternative names: Cellular myosin heavy chain, type B, Myosin heavy chain 10, Myosin heavy chain, non-muscle IIb, Non-muscle myosin heavy chain B, Non-muscle myosin heavy chain IIb
All UniProt accessions (4): A0A8I5KSC2, A0A8I5KTT7, A0A8I5KZ38, P35580
UniProt curated annotations — full annotation on UniProt →
Function. Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9. (Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1 envelope glycoprotein B.
Subunit / interactions. Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with PLEKHG6. Interacts with ECPAS. Interacts with KIF26B. Interacts with LARP6. Interacts with MCC. Interacts with CFAP95. (Microbial infection) Interacts with herpes simplex virus 1/HHV-1 envelope glycoprotein B.
Subcellular location. Cell projection. Lamellipodium Cell membrane.
Tissue specificity. Isoform 1 is expressed in cerebellum and spinal chord. Isoform 2 is expressed in cerebrum and retina. Isoform 3 is expressed in the cerebrum and to a much lower extent in cerebellum.
Post-translational modifications. Phosphorylated by ABL2.
Disease relevance. Associated with severe intellectual disability, microcephaly, and feeding difficulties as well as cerebral atrophy.
Domain organisation. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P35580-1 | 1 | yes |
| P35580-2 | 2 | |
| P35580-3 | 3 | |
| P35580-4 | 4 | |
| P35580-5 | 5 |
RefSeq proteins (4): NP_001242941, NP_001243024, NP_001362195, NP_005955 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000048 | IQ_motif_EF-hand-BS | Binding_site |
| IPR001609 | Myosin_head_motor_dom-like | Domain |
| IPR002928 | Myosin_tail | Domain |
| IPR004009 | SH3_Myosin | Domain |
| IPR008989 | Myosin_S1_N | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_superfamily |
Pfam: PF00063, PF00612, PF01576, PF02736
UniProt features (95 total): helix 33, modified residue 18, strand 18, splice variant 4, sequence conflict 4, region of interest 4, domain 3, compositionally biased region 3, turn 3, sequence variant 2, chain 1, binding site 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4PD3 | X-RAY DIFFRACTION | 2.84 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P35580-F1 | 76.44 | 0.18 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 178–185
Post-translational modifications (18): 18, 442, 1145, 1241, 1301, 1645, 1930, 1935, 1937, 1938, 1939, 1940, 1952, 1956, 1960, 1975, 214, 214
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-3928663 | EPHA-mediated growth cone collapse |
| R-HSA-416572 | Sema4D induced cell migration and growth-cone collapse |
| R-HSA-5625740 | RHO GTPases activate PKNs |
| R-HSA-5625900 | RHO GTPases activate CIT |
| R-HSA-5627117 | RHO GTPases Activate ROCKs |
| R-HSA-5627123 | RHO GTPases activate PAKs |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-2682334 | EPH-Ephrin signaling |
| R-HSA-373755 | Semaphorin interactions |
| R-HSA-400685 | Sema4D in semaphorin signaling |
| R-HSA-422475 | Axon guidance |
| R-HSA-9675108 | Nervous system development |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 438 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MITOTIC_CYTOKINESIS, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, E2F_Q4, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, E2F4DP1_01, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, KAAB_FAILED_HEART_ATRIUM_DN, GCANCTGNY_MYOD_Q6
GO Biological Process (34): mitotic cytokinesis (GO:0000281), in utero embryonic development (GO:0001701), neuron migration (GO:0001764), plasma membrane repair (GO:0001778), cardiac septum development (GO:0003279), exocytosis (GO:0006887), substrate-dependent cell migration, cell extension (GO:0006930), nuclear migration (GO:0007097), cell adhesion (GO:0007155), axon guidance (GO:0007411), adult heart development (GO:0007512), regulation of cell shape (GO:0008360), fourth ventricle development (GO:0021592), lateral ventricle development (GO:0021670), third ventricle development (GO:0021678), cerebellar Purkinje cell layer development (GO:0021680), actin filament-based movement (GO:0030048), actomyosin structure organization (GO:0031032), aorta development (GO:0035904), symbiont entry into host cell (GO:0046718), positive regulation of protein secretion (GO:0050714), neuromuscular process controlling balance (GO:0050885), cardiac myofibril assembly (GO:0055003), ventricular cardiac muscle cell development (GO:0055015), cardiac muscle cell proliferation (GO:0060038), retina development in camera-type eye (GO:0060041), coronary vasculature development (GO:0060976), postsynaptic actin cytoskeleton organization (GO:0098974), axonogenesis (GO:0007409), brain development (GO:0007420), heart development (GO:0007507), actin cytoskeleton organization (GO:0030036), myofibril assembly (GO:0030239), neuron projection development (GO:0031175)
GO Molecular Function (12): microfilament motor activity (GO:0000146), virus receptor activity (GO:0001618), actin binding (GO:0003779), calmodulin binding (GO:0005516), ATP binding (GO:0005524), RNA stem-loop binding (GO:0035613), ADP binding (GO:0043531), mRNA 5’-UTR binding (GO:0048027), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)
GO Cellular Component (31): stress fiber (GO:0001725), nucleus (GO:0005634), cytoplasm (GO:0005737), spindle (GO:0005819), cytosol (GO:0005829), brush border (GO:0005903), cell cortex (GO:0005938), cytoplasmic side of plasma membrane (GO:0009898), cell surface (GO:0009986), myosin complex (GO:0016459), myosin II complex (GO:0016460), sarcoplasm (GO:0016528), lamellipodium (GO:0030027), growth cone (GO:0030426), midbody (GO:0030496), neuromuscular junction (GO:0031594), cleavage furrow (GO:0032154), myosin filament (GO:0032982), actomyosin (GO:0042641), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), extracellular exosome (GO:0070062), myosin II filament (GO:0097513), postsynaptic actin cytoskeleton (GO:0098871), glutamatergic synapse (GO:0098978), plasma membrane (GO:0005886), membrane (GO:0016020), axon (GO:0030424), cell projection (GO:0042995), neuron projection (GO:0043005), supramolecular fiber (GO:0099512)
Reactome top-level categories
Rollup of top-10 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase Effectors | 4 |
| Axon guidance | 2 |
| EPH-Ephrin signaling | 1 |
| Sema4D in semaphorin signaling | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Semaphorin interactions | 1 |
| Nervous system development | 1 |
| Developmental Biology | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| anatomical structure development | 5 |
| cellular anatomical structure | 5 |
| ventricular system development | 3 |
| cytoplasm | 3 |
| adenyl ribonucleotide binding | 2 |
| actin cytoskeleton | 2 |
| myosin complex | 2 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| chordate embryonic development | 1 |
| cell migration | 1 |
| generation of neurons | 1 |
| plasma membrane organization | 1 |
| wound healing | 1 |
| cardiac chamber development | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| substrate-dependent cell migration | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| intracellular transport | 1 |
| nucleus localization | 1 |
| establishment of organelle localization | 1 |
| cellular process | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| heart development | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| hindbrain development | 1 |
| telencephalon development | 1 |
| cerebellar cortex development | 1 |
| actin filament-based process | 1 |
| actin cytoskeleton organization | 1 |
| artery development | 1 |
| viral life cycle | 1 |
| symbiont entry into host | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
Protein interactions and networks
STRING
2656 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYH10 | SHROOM3 | Q8TF72 | 722 |
| MYH10 | MYL9 | P24844 | 720 |
| MYH10 | KLF5 | Q13887 | 696 |
| MYH10 | MYL6 | P16475 | 695 |
| MYH10 | TPM4 | P07226 | 646 |
| MYH10 | KIF26B | Q2KJY2 | 604 |
| MYH10 | FLNB | O75369 | 593 |
| MYH10 | MYH9 | P35579 | 592 |
| MYH10 | CPT1C | Q8TCG5 | 589 |
| MYH10 | CPT1B | Q92523 | 589 |
| MYH10 | NECTIN3 | Q9NQS3 | 589 |
| MYH10 | TPM1 | P09493 | 583 |
| MYH10 | MYLK | Q15746 | 575 |
| MYH10 | CALML3 | P27482 | 570 |
| MYH10 | TPM2 | P06468 | 569 |
IntAct
206 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NS | PIK3R2 | psi-mi:“MI:0914”(association) | 0.750 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MYL6 | MYH9 | psi-mi:“MI:0914”(association) | 0.640 |
| SOX2 | MYH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MYL6 | MYL6B | psi-mi:“MI:0914”(association) | 0.530 |
| S100A4 | OIP5 | psi-mi:“MI:0914”(association) | 0.530 |
| VCAM1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| MYH10 | MYH10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| Kif26b | MYH10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MYH10 | HSPA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL1R1 | MYH10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EFHD2 | MYH10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATP6V1B1 | MYH10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PSMD8 | MYH10 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (506): MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-Western), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Reconstituted Complex), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS), MYH10 (Affinity Capture-MS)
ESM2 similar proteins: A0MP03, A4RE77, A8N2Y6, B0CRJ3, E1BPK6, O08638, P02563, P02564, P10587, P11055, P12847, P12883, P13538, P13540, P13541, P13542, P14105, P35579, P35580, P35748, P35749, P49824, P79293, Q01989, Q02566, Q076A6, Q076A7, Q1DLP2, Q258K2, Q27991, Q29122, Q5ZLA6, Q61879, Q62812, Q63862, Q64331, Q8MJU9, Q8MJV1, Q8VDD5, Q91Z83
Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCZ | down-regulates | MYH10 | phosphorylation |
| MEF2A | “up-regulates quantity by expression” | MYH10 | “transcriptional regulation” |
| MEF2D | “up-regulates quantity by expression” | MYH10 | “transcriptional regulation” |
| MEF2C | “up-regulates quantity by expression” | MYH10 | “transcriptional regulation” |
| POU2F1 | “up-regulates quantity by expression” | MYH10 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 214 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RIP-mediated NFkB activation via ZBP1 | 5 | 21.9× | 1e-04 |
| Signaling by ERBB2 ECD mutants | 5 | 21.9× | 1e-04 |
| RHO GTPases activate PAKs | 6 | 21.3× | 2e-05 |
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 6 | 20.4× | 2e-05 |
| Tie2 Signaling | 5 | 19.6× | 1e-04 |
| FCERI mediated MAPK activation | 7 | 15.8× | 2e-05 |
| Downstream signal transduction | 6 | 14.9× | 1e-04 |
| TRAF6 mediated NF-kB activation | 5 | 14.9× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 6 | 23.4× | 1e-04 |
| response to muscle stretch | 5 | 20.4× | 1e-03 |
| canonical NF-kappaB signal transduction | 7 | 13.6× | 3e-04 |
| tumor necrosis factor-mediated signaling pathway | 6 | 10.6× | 6e-03 |
| intrinsic apoptotic signaling pathway in response to DNA damage | 6 | 10.3× | 6e-03 |
| positive regulation of miRNA transcription | 6 | 9.3× | 9e-03 |
| positive regulation of canonical NF-kappaB signal transduction | 14 | 5.4× | 2e-04 |
| negative regulation of neuron apoptotic process | 9 | 5.3× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
334 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 7 |
| Uncertain significance | 254 |
| Likely benign | 23 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 208680 | NM_001256012.3(MYH10):c.2815G>T (p.Glu939Ter) | Pathogenic |
| 2578521 | NM_001256012.3(MYH10):c.4054C>T (p.Gln1352Ter) | Pathogenic |
| 3235270 | NM_001256012.3(MYH10):c.3352AAG[1] (p.Lys1119del) | Pathogenic |
| 625873 | NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro) | Pathogenic |
| 1703439 | NM_001256012.3(MYH10):c.2036G>A (p.Gly679Asp) | Likely pathogenic |
| 3253330 | NM_001256012.3(MYH10):c.1183C>A (p.Leu395Ile) | Likely pathogenic |
| 3372889 | NM_001256012.3(MYH10):c.3013del (p.Lys1004_Val1005insTer) | Likely pathogenic |
| 3764196 | NM_001256012.3(MYH10):c.2123G>A (p.Arg708His) | Likely pathogenic |
| 3769338 | NM_001256012.3(MYH10):c.5175+2T>C | Likely pathogenic |
| 3915390 | NM_001256012.3(MYH10):c.1511T>C (p.Leu504Pro) | Likely pathogenic |
| 4527601 | NM_001256012.3(MYH10):c.1480C>T (p.Gln494Ter) | Likely pathogenic |
SpliceAI
6172 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:8476872:TCA:T | donor_loss | 1.0000 |
| 17:8476873:CA:C | donor_loss | 1.0000 |
| 17:8476874:A:AC | donor_gain | 1.0000 |
| 17:8476875:C:CC | donor_gain | 1.0000 |
| 17:8476875:C:CG | donor_loss | 1.0000 |
| 17:8477046:CAT:C | acceptor_gain | 1.0000 |
| 17:8477046:CATC:C | acceptor_loss | 1.0000 |
| 17:8477046:CATCT:C | acceptor_gain | 1.0000 |
| 17:8477048:TCT:T | acceptor_loss | 1.0000 |
| 17:8477049:C:CC | acceptor_gain | 1.0000 |
| 17:8477050:T:C | acceptor_gain | 1.0000 |
| 17:8477050:T:TC | acceptor_gain | 1.0000 |
| 17:8477059:G:C | acceptor_gain | 1.0000 |
| 17:8477059:G:GC | acceptor_gain | 1.0000 |
| 17:8477062:CA:C | acceptor_gain | 1.0000 |
| 17:8477063:A:AC | acceptor_gain | 1.0000 |
| 17:8477063:A:C | acceptor_gain | 1.0000 |
| 17:8477063:A:T | acceptor_gain | 1.0000 |
| 17:8477069:C:CT | acceptor_gain | 1.0000 |
| 17:8477070:A:T | acceptor_gain | 1.0000 |
| 17:8478327:T:TA | donor_gain | 1.0000 |
| 17:8478447:C:CC | acceptor_gain | 1.0000 |
| 17:8480104:TCTTA:T | donor_loss | 1.0000 |
| 17:8480105:CTTA:C | donor_loss | 1.0000 |
| 17:8480106:TTA:T | donor_loss | 1.0000 |
| 17:8480107:TA:T | donor_loss | 1.0000 |
| 17:8480108:A:AC | donor_gain | 1.0000 |
| 17:8480108:AC:A | donor_loss | 1.0000 |
| 17:8480109:C:CC | donor_gain | 1.0000 |
| 17:8480109:CTTGG:C | donor_gain | 1.0000 |
AlphaMissense
13287 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:8476942:A:G | L1907P | 1.000 |
| 17:8476948:C:G | R1905P | 1.000 |
| 17:8476960:C:G | R1901P | 1.000 |
| 17:8476961:G:T | R1901S | 1.000 |
| 17:8490443:A:G | L1563P | 1.000 |
| 17:8490467:A:G | L1555P | 1.000 |
| 17:8504697:A:G | L1168P | 1.000 |
| 17:8504736:A:G | L1155P | 1.000 |
| 17:8504748:A:G | L1151P | 1.000 |
| 17:8504752:C:G | A1150P | 1.000 |
| 17:8504757:A:G | L1148P | 1.000 |
| 17:8512594:C:G | A906P | 1.000 |
| 17:8512618:C:G | A898P | 1.000 |
| 17:8512623:A:G | L896P | 1.000 |
| 17:8512635:A:G | L892P | 1.000 |
| 17:8513656:A:G | L845P | 1.000 |
| 17:8513659:A:G | L844P | 1.000 |
| 17:8513801:C:A | W835C | 1.000 |
| 17:8513801:C:G | W835C | 1.000 |
| 17:8513803:A:G | W835R | 1.000 |
| 17:8513803:A:T | W835R | 1.000 |
| 17:8513804:C:A | W834C | 1.000 |
| 17:8513804:C:G | W834C | 1.000 |
| 17:8513806:A:G | W834R | 1.000 |
| 17:8513806:A:T | W834R | 1.000 |
| 17:8513810:C:A | W832C | 1.000 |
| 17:8513810:C:G | W832C | 1.000 |
| 17:8513812:A:G | W832R | 1.000 |
| 17:8513812:A:T | W832R | 1.000 |
| 17:8513840:G:C | N822K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006252 (17:8539114 A>G), RS1000008533 (17:8522125 T>C), RS1000069010 (17:8568135 C>T), RS1000097913 (17:8607017 G>C), RS1000100416 (17:8611763 C>G,T), RS1000114486 (17:8497910 T>C), RS1000184731 (17:8578494 C>T), RS1000196690 (17:8532226 G>A), RS1000219747 (17:8625272 T>A), RS1000220203 (17:8593675 T>C), RS1000223857 (17:8489799 C>T), RS1000261116 (17:8491372 T>G), RS1000270330 (17:8498247 T>C), RS1000299031 (17:8617834 T>G), RS1000310135 (17:8541824 G>A,C)
Disease associations
OMIM: gene MIM:160776 | disease phenotypes: MIM:135700, MIM:154600
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder with or without congenital anomalies | Definitive | Autosomal dominant |
| MYH10-related neurodevelopmental disorder with congenital anomalies | Moderate | Autosomal dominant |
| coloboma | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder with or without congenital anomalies | Definitive | AD |
Mondo (7): autism spectrum disorder (MONDO:0005258), congenital fibrosis of extraocular muscles (MONDO:0007614), jaw-winking syndrome (MONDO:0007946), MYH10-related neurodevelopmental disorder with congenital anomalies (MONDO:0700281), complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465), coloboma (MONDO:0001476), congenital ptosis (MONDO:0008340)
Orphanet (5): Congenital fibrosis of extraocular muscles (Orphanet:45358), Marcus-Gunn syndrome (Orphanet:91412), OBSOLETE: Ocular coloboma (Orphanet:194), NON RARE IN EUROPE: Autism (Orphanet:106), Congenital ptosis (Orphanet:91411)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0007970 | Congenital ptosis |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006484_16 | Type 2 diabetes | 6.000000e-07 |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003103 | Coloboma | C11.250.110; C11.270.147; C16.131.384.282 |
| C535908 | Marcus Gunn phenomenon (supp.) | |
| C566737 | Ptosis, Hereditary Congenital 1 (supp.) | |
| C580012 | congenital fibrosis of the extraocular muscles (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105746 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 5,194 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL576982 | QUIZARTINIB | 4 | 4,432 |
| CHEMBL475251 | R-406 | 2 | 762 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 4 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.64 | Kd | 229 | nM | R-406 |
| 6.12 | Kd | 758 | nM | QUIZARTINIB |
| 5.34 | IC50 | 4600 | nM | CHEMBL1328324 |
PubChem BioAssay actives
3 with measured affinity, of 168 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 6-[[5-fluoro-2-(3,4,5-trimethoxyanilino)pyrimidin-4-yl]amino]-2,2-dimethyl-4H-pyrido[3,2-b][1,4]oxazin-3-one | 1425079: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 0.2290 | uM |
| Quizartinib | 1425079: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 0.7580 | uM |
| 3a-hydroxy-6-methyl-1-phenyl-2,3-dihydropyrrolo[2,3-b]quinolin-4-one | 1360375: Inhibition of human non-muscle myosin 2b | ic50 | 4.6000 | uM |
CTD chemical–gene interactions
80 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, affects methylation, decreases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 3 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, affects methylation, increases response to substance | 3 |
| Cisplatin | decreases expression, decreases response to substance, increases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Fulvestrant | affects cotreatment, increases methylation, decreases reaction, increases expression, increases phosphorylation | 2 |
| Estradiol | affects localization, increases expression, increases phosphorylation, affects binding, decreases reaction (+2 more) | 2 |
| Nickel | decreases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| sulindac sulfide | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3991792 | Binding | Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by ma | The target landscape of clinical kinase drugs. — Science |
Cellosaurus cell lines
2 cell lines: 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5F9 | MRIi003-A-1 | Induced pluripotent stem cell | Male |
| CVCL_B5FA | MRIi003-A-2 | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
304 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Associated diseases: coloboma, complex neurodevelopmental disorder with or without congenital anomalies, MYH10-related neurodevelopmental disorder with congenital anomalies
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): coloboma, complex neurodevelopmental disorder with or without congenital anomalies, congenital fibrosis of extraocular muscles, congenital ptosis, jaw-winking syndrome, MYH10-related neurodevelopmental disorder with congenital anomalies