MSN
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Summary
MSN (moesin, HGNC:7373) is a protein-coding gene on chromosome Xq12, encoding Moesin (P26038). Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex.
Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement.
Source: NCBI Gene 4478 — RefSeq curated summary.
At a glance
- Gene–disease (curated): combined immunodeficiency due to moesin deficiency (Definitive, ClinGen)
- GWAS associations: 1
- Clinical variants (ClinVar): 349 total — 12 pathogenic, 6 likely-pathogenic
- Phenotypes (HPO): 7
- Druggable target: yes
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 4 cancer types
- MANE Select transcript:
NM_002444
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7373 |
| Approved symbol | MSN |
| Name | moesin |
| Location | Xq12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000147065 |
| Ensembl biotype | protein_coding |
| OMIM | 309845 |
| Entrez | 4478 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 10 protein_coding, 5 protein_coding_CDS_not_defined, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000360270, ENST00000429601, ENST00000439474, ENST00000447323, ENST00000609205, ENST00000609672, ENST00000697133, ENST00000697134, ENST00000697135, ENST00000697136, ENST00000697137, ENST00000697138, ENST00000697139, ENST00000697140, ENST00000697141, ENST00000697142, ENST00000885865, ENST00000915048, ENST00000915049, ENST00000943362, ENST00000943363
RefSeq mRNA: 1 — MANE Select: NM_002444
NM_002444
CCDS: CCDS14382
Canonical transcript exons
ENST00000360270 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000978535 | 65727814 | 65727909 |
| ENSE00000978536 | 65729438 | 65729712 |
| ENSE00000978537 | 65731107 | 65731190 |
| ENSE00000978538 | 65731838 | 65731984 |
| ENSE00000978539 | 65733184 | 65733280 |
| ENSE00001022049 | 65736795 | 65736925 |
| ENSE00001707735 | 65735267 | 65735430 |
| ENSE00003496799 | 65738970 | 65739194 |
| ENSE00003577013 | 65738525 | 65738617 |
| ENSE00003596103 | 65737178 | 65737338 |
| ENSE00003969704 | 65667654 | 65667853 |
| ENSE00003969709 | 65716818 | 65716901 |
| ENSE00003969728 | 65739729 | 65741931 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.3482 / max 290.9508, expressed in 1690 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196538 | 12.8973 | 1629 |
| 196536 | 5.3659 | 1584 |
| 196539 | 3.5356 | 1383 |
| 196533 | 1.4178 | 415 |
| 196534 | 0.5121 | 82 |
| 196537 | 0.3335 | 145 |
| 196540 | 0.2455 | 125 |
| 196541 | 0.0405 | 11 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower lobe of lung | UBERON:0008949 | 99.55 | gold quality |
| monocyte | CL:0000576 | 99.40 | gold quality |
| leukocyte | CL:0000738 | 99.40 | gold quality |
| mononuclear cell | CL:0000842 | 99.39 | gold quality |
| granulocyte | CL:0000094 | 99.38 | gold quality |
| synovial joint | UBERON:0002217 | 99.36 | gold quality |
| saphenous vein | UBERON:0007318 | 99.23 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 99.17 | gold quality |
| right lung | UBERON:0002167 | 99.15 | gold quality |
| vermiform appendix | UBERON:0001154 | 99.13 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.13 | gold quality |
| lung | UBERON:0002048 | 99.11 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.09 | gold quality |
| upper lobe of lung | UBERON:0008948 | 99.09 | gold quality |
| blood | UBERON:0000178 | 99.05 | gold quality |
| caecum | UBERON:0001153 | 99.05 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 99.05 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.01 | gold quality |
| right coronary artery | UBERON:0001625 | 98.98 | gold quality |
| lymph node | UBERON:0000029 | 98.96 | gold quality |
| thymus | UBERON:0002370 | 98.93 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.92 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.92 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.89 | gold quality |
| ascending aorta | UBERON:0001496 | 98.88 | gold quality |
| aorta | UBERON:0000947 | 98.86 | gold quality |
| popliteal artery | UBERON:0002250 | 98.84 | gold quality |
| tibial artery | UBERON:0007610 | 98.84 | gold quality |
| decidua | UBERON:0002450 | 98.80 | gold quality |
| penis | UBERON:0000989 | 98.75 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 151.59 |
| E-CURD-122 | yes | 40.59 |
| E-HCAD-10 | yes | 32.09 |
| E-CURD-112 | yes | 19.64 |
| E-GEOD-93593 | yes | 13.94 |
| E-MTAB-9388 | yes | 12.20 |
| E-GEOD-81547 | yes | 8.00 |
| E-GEOD-83139 | yes | 7.34 |
| E-ENAD-27 | yes | 6.35 |
| E-MTAB-5061 | yes | 5.83 |
| E-GEOD-70580 | no | 1221.31 |
| E-MTAB-6819 | no | 350.76 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| ICAM1 | Activation |
Upstream regulators (CollecTRI, top): MYC, ROCK2
miRNA regulators (miRDB)
174 targeting MSN, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| 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-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
Literature-anchored findings (GeneRIF, showing 40)
- amino-terminal domains of the ezrin, radixin, and moesin (ERM) proteins bind advanced glycation end products and have a role in diabetes (PMID:12734202)
- PECAM-1 co-localized with moesin at the cell periphery and in filopodia of glass-activated platelets; moesin may play a role in platelet adhesion, linking PECAM-1 with the actin cytoskeleton (PMID:12850829)
- moesin has a role in lymph node metastasis of oral squamous cell carcinoma (PMID:14760079)
- important role in lipopolysaccharide-induced TNF-alpha production, particularly in lipopolysaccharide-mediated signal transduction (PMID:15039356)
- ezrin/radixin/moesin proteins are recruited by NHE1 Na+/H+ exchanger and have roles in regulating Akt-dependent cell survival (PMID:15096511)
- All three ERM family members can localise to the nucleus; a specific nuclear localisation sequence, which is conserved and functional in all ERM family members, is identified, implying specific regulated nuclear import. (PMID:15149851)
- there is nucleotide variation at Msn and Alas2 on the X chromosome (PMID:15166166)
- results suggest that ezrin-radixin-moesin proteins are required for microvillar positioning of L-selectin and that this is important both for leukocyte tethering and L-selectin shedding (PMID:15178693)
- Ezrin, radixin and moesin are ADP-ribosylated by Pseudomonas aeruginosa ExoS (PMID:15252013)
- Expression of ExoS in HeLa cells led to a loss of phosphorylation of Ezrin/radixin/moesin proteins that was dependent upon the expression of ADP-ribosyltransferase activity. (PMID:16889625)
- early phagosome maturation was shown to depend on activation of Rho acting through Rho kinase on ezrin-radixin-moesin proteins (PMID:16908865)
- B-cell response to moesin, possibly derived from hematopoietic cells, frequently occurs in patients with acquired aplastic anemia (PMID:17110458)
- moesin negatively regulates stable microtubule networks and is a natural determinant of cellular sensitivity to retroviral infection (PMID:17170707)
- increased CD44, ezrin, radixin, and moesin phosphorylation represents a key molecular abnormality that guides T cell adhesion and migration in SLE patients. (PMID:17237445)
- MSN was differentially expressed in sclerotic hippocampi compared to non-sclerotic ones. (PMID:17515952)
- Moesin protein expression is a basal marker in breast tumors. Moesin expression was nearly an independent prognostic marker of poor outcome (PMID:17594689)
- the ezrin, radixin, and moesin proteins function as positive regulators of infection by X4-tropic HIV-1 (PMID:18295815)
- Phosphorylation of ezrin/moesin by ROCK is involved in the early steps of apoptotic signaling following Fas receptor triggering and regulates apoptosis induction in Jurkat cells. (PMID:18941185)
- functional alterations of moesin may be involved in pathological disorders associated with clathrin-mediated internalization or receptor recycling (PMID:19047065)
- Results suggest that activated moesin promotes F-actin redistribution and CD4-CXCR4 clustering and is also required for efficient X4-tropic HIV-1 infection in permissive lymphocytes. (PMID:19066282)
- No aspects of T cell receptor signaling uniquely require transgenic ezrin or moesin; instead, T cell activation appears to depend on net ezrin, radixin, and moesin (ERM) protein expression, while ezrin and moesin function together. (PMID:19124745)
- In Vitro and in Vivo Characterization of Molecular Interactions between Calmodulin, Ezrin/Radixin/Moesin, and L-selectin (PMID:19129194)
- c14orf166 was identified asa novel metastasis-associated protein, and the roles of radixin, moesin and c14orf166 in pancreatic cancer metastasis deserve further investigations. (PMID:19152423)
- These studies identify a new ERM kinase of importance in lymphocytes and confirm the role of ezrin-radixin-moesin phosphorylation in regulating cell shape and motility. (PMID:19255442)
- Moesin is a phenotypic marker for anaplastic carcinoma. (PMID:19432821)
- expression of moesin delays senescence of human dermal microvascular endothelial cells (PMID:19555429)
- Moesin is crucial for invasion by melanoma cells in 3D matrices and in early lung colonization. (PMID:19723803)
- Data show that stimulation of the NK cell-expressed tetraspanin CD81 induces phosphorylation of ezrin/radixin/moesin proteins and leads to NK cell polarization thereby facilitating NK cell migration toward various chemokines/cytokines. (PMID:19830727)
- Ezrin, radixin, and moesin proteins are physiological substrates of the kinase activity of leucine-rich repeat kinase 2 (LRRK2). (PMID:19890007)
- Data show that TNF-alpha induces the formation of fibrotic foci by cultured retinal pigment epithelial cells through activation of transforming growth factor-TGF-beta signaling in a manner dependent on hyaluronan-CD44-moesin interaction. (PMID:19965872)
- Findings suggest that there is a functional association between moesin expression and cellular senescence. (PMID:20376899)
- Results suggest that VEGF-C promoted cervical cancer metastasis by upregulation and activation of moesin protein through RhoA/ROCK-2 pathway. (PMID:20429915)
- important role in the innate immune response and toll-like receptor 4-mediated pattern recognition in periodontal disease (PMID:20546116)
- Results demonstrate a new regulatory mechanism of ezrin-radixin-moesin phosphorylation by sphingolipids with opposing actions of ceramide and sphingosine 1-phosphate. (PMID:20679347)
- Data suggest that ezrin-radixin-moesin proteins are involved in the spatial regulation of Epac1 and cooperate with cAMP- and Rap-mediated signaling to regulate adhesion to the extracellular matrix. (PMID:20855527)
- This study provides the novel evidence that increased phosphorylation of Ezrin/radixin/moesin proteins may contribute to proliferation of rheumatoid fibroblast-like synoviocytes. (PMID:21278069)
- Dysregulation of the ezrin/radixin/moesin-RAGE complex might be an important step in rearrangement of the actin cytoskeleton during proinflammatory cytokine-induced epithelial-mesenchymal transition of human alveolar epithelial cells. (PMID:21278261)
- ezrin, radixin and moesin play similar roles in the tumor cell metastatic potential and their roles of upregulating the expression of E-cadherin may be important in tumor progression (PMID:21352885)
- Knockdown of ERM family member moesin in host cells increases HIV type 1 replication. (PMID:21486194)
- PDZD8 is a novel moesin-interacting protein that suppresses infection by herpes simplex virus type 1. (PMID:21549406)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Msn | ENSMUSG00000031207 |
| rattus_norvegicus | Msn | ENSRNOG00000030118 |
| drosophila_melanogaster | Moe | FBGN0011661 |
Paralogs (6): EZR (ENSG00000092820), FRMD4B (ENSG00000114541), ERMN (ENSG00000136541), RDX (ENSG00000137710), FRMD4A (ENSG00000151474), NF2 (ENSG00000186575)
Protein
Protein identifiers
Moesin — P26038 (reviewed: P26038)
Alternative names: Membrane-organizing extension spike protein
All UniProt accessions (5): P26038, A0A8V8TKQ0, A0A8V8TKR9, V9GZ54, V9HWC0
UniProt curated annotations — full annotation on UniProt →
Function. Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton. Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement. These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction. The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs. Modulates phagolysosomal biogenesis in macrophages. Also participates in immunologic synapse formation.
Subunit / interactions. In resting T-cells, part of a PAG1-NHERF1-MSN complex which is disrupted upon TCR activation. Interacts with NHERF1. Interacts with PPP1R16B. Interacts with SELPLG and SYK; these interactions mediate the activation of SYK by SELPLG. Interacts with PDPN (via cytoplasmic domain); this interaction activates RHOA and promotes epithelial-mesenchymal transition. Interacts with SPN/CD43 cytoplasmic tail. Interacts with CD44. Interacts with ICAM2. Interacts with ICAM3 (via C-terminus). Interacts with PDZD8. Interacts with F-actin. Interacts with CD46. Interacts with PTPN6. (Microbial infection) Interacts with HIV-1 envelope protein gp120.
Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton. Apical cell membrane. Cell projection. Microvillus membrane. Microvillus.
Tissue specificity. In all tissues and cultured cells studied.
Post-translational modifications. Phosphorylation on Thr-558 is crucial for the formation of microvilli-like structures. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding. Phosphorylation on Thr-558 by STK10 negatively regulates lymphocyte migration and polarization. S-nitrosylation of Cys-117 is induced by interferon-gamma and oxidatively-modified low-densitity lipoprotein (LDL(ox)) implicating the iNOS-S100A8/9 transnitrosylase complex.
Disease relevance. Immunodeficiency 50 (IMD50) [MIM:300988] A primary immunodeficiency disorder characterized by onset of recurrent bacterial or varicella zoster virus infections in early childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, and a poor immune response to vaccine antigens. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. A head-to-tail association, of the N-terminal and C-terminal halves results in a closed conformation (inactive form) which is incapable of actin or membrane-binding.
Domain organisation. The [IL]-x-C-x-x-[DE] motif is a proposed target motif for cysteine S-nitrosylation mediated by the iNOS-S100A8/A9 transnitrosylase complex.
RefSeq proteins (1): NP_002435* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000299 | FERM_domain | Domain |
| IPR000798 | Ez/rad/moesin-like | Family |
| IPR008954 | Moesin_tail_sf | Homologous_superfamily |
| IPR011174 | ERM | Family |
| IPR011259 | ERM_C_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR014352 | FERM/acyl-CoA-bd_prot_sf | Homologous_superfamily |
| IPR018979 | FERM_N | Domain |
| IPR018980 | FERM_PH-like_C | Domain |
| IPR019747 | FERM_CS | Conserved_site |
| IPR019748 | FERM_central | Domain |
| IPR019749 | Band_41_domain | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR035963 | FERM_2 | Homologous_superfamily |
| IPR041789 | ERM_FERM_C | Domain |
| IPR046810 | ERM_helical | Domain |
Pfam: PF00373, PF00769, PF09379, PF09380, PF20492
UniProt features (65 total): helix 18, strand 15, modified residue 10, mutagenesis site 6, turn 5, region of interest 3, compositionally biased region 3, initiator methionine 1, chain 1, domain 1, sequence variant 1, short sequence motif 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8CIS | X-RAY DIFFRACTION | 1.52 |
| 6TXQ | X-RAY DIFFRACTION | 1.73 |
| 8XZ5 | X-RAY DIFFRACTION | 1.8 |
| 8CIR | X-RAY DIFFRACTION | 1.85 |
| 1EF1 | X-RAY DIFFRACTION | 1.9 |
| 6TXS | X-RAY DIFFRACTION | 2.2 |
| 8CIU | X-RAY DIFFRACTION | 2.39 |
| 8CIT | X-RAY DIFFRACTION | 2.54 |
| 1E5W | X-RAY DIFFRACTION | 2.7 |
| 1SGH | X-RAY DIFFRACTION | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P26038-F1 | 86.77 | 0.62 |
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 (10): 74, 79, 83, 116, 117, 139, 165, 407, 527, 558
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 115 | inhibits s-nitrosylation of cys-117; when associated with m-120. |
| 120 | inhibits s-nitrosylation of cys-117; when associated with m-115. |
| 556 | impairs phosphorylation by stk10. |
| 558 | abolishes phosphorylation by stk10. |
| 558 | completely abolishes the interaction between n- and c-terminal domains. |
| 558 | phosphomimetic mutant. |
Function
Pathways and Gene Ontology
Reactome pathways
19 pathways
| ID | Pathway |
|---|---|
| R-HSA-437239 | Recycling pathway of L1 |
| R-HSA-8950505 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
| R-HSA-9662360 | Sensory processing of sound by inner hair cells of the cochlea |
| R-HSA-9662361 | Sensory processing of sound by outer hair cells of the cochlea |
| R-HSA-9725370 | Signaling by ALK fusions and activated point mutants |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-1643685 | Disease |
| R-HSA-168256 | Immune System |
| R-HSA-373760 | L1CAM interactions |
| R-HSA-422475 | Axon guidance |
| R-HSA-447115 | Interleukin-12 family signaling |
| R-HSA-449147 | Signaling by Interleukins |
| R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers |
| R-HSA-9020591 | Interleukin-12 signaling |
| R-HSA-9659379 | Sensory processing of sound |
| R-HSA-9675108 | Nervous system development |
| R-HSA-9700206 | Signaling by ALK in cancer |
| R-HSA-9709957 | Sensory Perception |
MSigDB gene sets: 430 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GGGACCA_MIR133A_MIR133B, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_MONOPOLAR_CELL_POLARITY, GNF2_MSN, GOBP_GLAND_MORPHOGENESIS, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_PODOSOME_ASSEMBLY, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GCM_MSN, GOBP_EPITHELIAL_CELL_DEVELOPMENT
GO Biological Process (20): immunological synapse formation (GO:0001771), leukocyte cell-cell adhesion (GO:0007159), regulation of cell shape (GO:0008360), regulation of cell size (GO:0008361), positive regulation of gene expression (GO:0010628), gland morphogenesis (GO:0022612), membrane to membrane docking (GO:0022614), T cell proliferation (GO:0042098), establishment of epithelial cell apical/basal polarity (GO:0045198), positive regulation of protein catabolic process (GO:0045732), leukocyte migration (GO:0050900), establishment of endothelial barrier (GO:0061028), T cell aggregation (GO:0070489), positive regulation of podosome assembly (GO:0071803), T cell migration (GO:0072678), regulation of organelle assembly (GO:1902115), positive regulation of protein localization to early endosome (GO:1902966), regulation of lymphocyte migration (GO:2000401), positive regulation of early endosome to late endosome transport (GO:2000643), cytoskeleton organization (GO:0007010)
GO Molecular Function (9): double-stranded RNA binding (GO:0003725), actin binding (GO:0003779), signaling receptor binding (GO:0005102), structural constituent of cytoskeleton (GO:0005200), enzyme binding (GO:0019899), protein kinase binding (GO:0019901), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515), cytoskeletal protein binding (GO:0008092)
GO Cellular Component (24): uropod (GO:0001931), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), microvillus (GO:0005902), adherens junction (GO:0005912), focal adhesion (GO:0005925), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), filopodium (GO:0030175), pseudopodium (GO:0031143), microvillus membrane (GO:0031528), vesicle (GO:0031982), apical part of cell (GO:0045177), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cell periphery (GO:0071944), blood microparticle (GO:0072562), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-14 pathways:
| Category | Pathways |
|---|---|
| Sensory processing of sound | 2 |
| L1CAM interactions | 1 |
| Interleukin-12 signaling | 1 |
| Signaling by ALK in cancer | 1 |
| Immune System | 1 |
| Axon guidance | 1 |
| Nervous system development | 1 |
| Signaling by Interleukins | 1 |
| Cytokine Signaling in Immune system | 1 |
| Disease | 1 |
| Interleukin-12 family signaling | 1 |
| Sensory Perception | 1 |
| Developmental Biology | 1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| protein binding | 4 |
| lymphocyte migration | 2 |
| plasma membrane bounded cell projection | 2 |
| cytoplasm | 2 |
| actin-based cell projection | 2 |
| plasma membrane region | 2 |
| cell-cell recognition | 1 |
| lymphocyte activation | 1 |
| cell-cell adhesion | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| regulation of cellular component size | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| animal organ morphogenesis | 1 |
| gland development | 1 |
| membrane docking | 1 |
| T cell activation | 1 |
| lymphocyte proliferation | 1 |
| polarized epithelial cell differentiation | 1 |
| establishment of apical/basal cell polarity | 1 |
| establishment or maintenance of epithelial cell apical/basal polarity | 1 |
| establishment of epithelial cell polarity | 1 |
| positive regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| immune system process | 1 |
| cell migration | 1 |
| endothelial cell development | 1 |
| lymphocyte aggregation | 1 |
| positive regulation of protein-containing complex assembly | 1 |
| podosome assembly | 1 |
| regulation of podosome assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| regulation of organelle organization | 1 |
| regulation of cellular component biogenesis | 1 |
| organelle assembly | 1 |
Protein interactions and networks
STRING
2812 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MSN | NHERF1 | O14745 | 997 |
| MSN | CD44 | P16070 | 992 |
| MSN | EZR | P15311 | 983 |
| MSN | RDX | P35241 | 983 |
| MSN | SLC9A1 | P19634 | 974 |
| MSN | SPN | P16150 | 942 |
| MSN | ICAM1 | P05362 | 910 |
| MSN | NHERF2 | Q15599 | 897 |
| MSN | VCL | P18206 | 873 |
| MSN | ICAM2 | P13598 | 850 |
| MSN | PDPN | Q86YL7 | 835 |
| MSN | CD46 | P15529 | 816 |
| MSN | SELL | P14151 | 811 |
| MSN | FLNA | P21333 | 796 |
| MSN | RHOA | P06749 | 793 |
IntAct
213 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRK2 | MSN | psi-mi:“MI:0217”(phosphorylation reaction) | 0.960 |
| MSN | LRRK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.960 |
| EZR | MSN | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SEC23A | SEC24D | psi-mi:“MI:0914”(association) | 0.690 |
| NHERF1 | MSN | psi-mi:“MI:0915”(physical association) | 0.680 |
| NHERF1 | MSN | psi-mi:“MI:0403”(colocalization) | 0.680 |
| NHERF1 | MSN | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| Map4k4 | MSN | psi-mi:“MI:0217”(phosphorylation reaction) | 0.560 |
| Map4k4 | MSN | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| LMO2 | MSN | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEK | CAVIN2 | psi-mi:“MI:0914”(association) | 0.560 |
| MAPK10 | HAX1 | psi-mi:“MI:0914”(association) | 0.550 |
BioGRID (418): MSN (Affinity Capture-MS), MSN (Affinity Capture-MS), VPS11 (Reconstituted Complex), ACAA2 (Co-fractionation), AKR1B1 (Co-fractionation), ARHGDIA (Co-fractionation), CALR (Co-fractionation), CALU (Co-fractionation), CD2AP (Co-fractionation), CTNNB1 (Co-fractionation), EIF5AL1 (Co-fractionation), ENO1 (Co-fractionation), ENO2 (Co-fractionation), FABP5 (Co-fractionation), FAXC (Co-fractionation)
ESM2 similar proteins: B0DOB5, B0WYY2, H2KZZ6, O35346, O35763, O35889, P0C1G6, P15311, P26038, P26040, P26041, P26042, P26043, P26044, P31976, P31977, P35240, P35241, P36583, P46150, P46662, P52962, P55196, P59750, Q05397, Q12929, Q15057, Q170J7, Q18685, Q24564, Q29GR8, Q2HJ49, Q32LP2, Q3UU96, Q5R4H4, Q63648, Q66I42, Q6A028, Q6IVG4, Q7PGE8
Diamond homologs: B0WYY2, B2RYE5, O35763, O43491, O70318, P12264, P15311, P26038, P26040, P26041, P26042, P26043, P26044, P26045, P29074, P31976, P31977, P35240, P35241, P46150, P46662, P52962, P59750, P86232, Q12923, Q170J7, Q24564, Q29GR8, Q2HJ49, Q32LP2, Q58CU2, Q5FVG2, Q63648, Q66I42, Q7PS12, Q8BGS1, Q8HZQ5, Q8WY64, Q9H329, Q9HCM4
SIGNOR signaling
9 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LRRK2 | “up-regulates activity” | MSN | phosphorylation |
| MSN | “form complex” | MSN/PDZD8 | binding |
| STK10 | “up-regulates activity” | MSN | phosphorylation |
| PRKCQ | unknown | MSN | phosphorylation |
| CDC42BPB | “up-regulates activity” | MSN | phosphorylation |
| RHOA | “up-regulates activity” | MSN | phosphorylation |
| MSN | up-regulates | Platelet_aggregation | |
| ROCK1 | “up-regulates activity” | MSN | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 171 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 |
|---|---|---|---|
| Antigen Presentation: Folding, assembly and peptide loading of class I MHC | 6 | 19.9× | 4e-04 |
| Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells | 5 | 15.0× | 4e-03 |
| Signaling by ALK fusions and activated point mutants | 6 | 7.6× | 9e-03 |
| SARS-CoV-2-host interactions | 7 | 7.0× | 7e-03 |
| SARS-CoV-2 activates/modulates innate and adaptive immune responses | 9 | 6.8× | 2e-03 |
| Interleukin-4 and Interleukin-13 signaling | 7 | 6.0× | 1e-02 |
| Signaling by Interleukins | 11 | 5.9× | 1e-03 |
| SARS-CoV-2 Infection | 8 | 5.4× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| peptidyl-tyrosine phosphorylation | 6 | 17.2× | 7e-04 |
| leukocyte cell-cell adhesion | 5 | 15.9× | 4e-03 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 9 | 8.3× | 7e-04 |
| protein autophosphorylation | 7 | 6.9× | 9e-03 |
| protein phosphorylation | 13 | 6.0× | 4e-04 |
| in utero embryonic development | 10 | 4.9× | 7e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 4 cancer types — BCC, CCRCC, ESCA, ESCC.
Clinical variants and AI predictions
ClinVar
349 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 12 |
| Likely pathogenic | 6 |
| Uncertain significance | 118 |
| Likely benign | 93 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (18)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1252064 | NM_002444.3(MSN):c.1056del (p.Lys352fs) | Pathogenic |
| 1482598 | NM_002444.3(MSN):c.1114del (p.Ala372fs) | Pathogenic |
| 2017647 | NM_002444.3(MSN):c.49G>T (p.Glu17Ter) | Pathogenic |
| 2019813 | NM_002444.3(MSN):c.1174_1183dup (p.Glu395fs) | Pathogenic |
| 2036029 | NM_002444.3(MSN):c.586C>T (p.Gln196Ter) | Pathogenic |
| 2101770 | NM_002444.3(MSN):c.1303C>T (p.Arg435Ter) | Pathogenic |
| 2729282 | NM_002444.3(MSN):c.504G>A (p.Trp168Ter) | Pathogenic |
| 2758658 | NM_002444.3(MSN):c.585_586dup (p.Gln196fs) | Pathogenic |
| 3639773 | NM_002444.3(MSN):c.1471dup (p.Ser491fs) | Pathogenic |
| 372154 | NM_002444.3(MSN):c.511C>T (p.Arg171Trp) | Pathogenic |
| 4714962 | NM_002444.3(MSN):c.1279C>T (p.Arg427Ter) | Pathogenic |
| 4803753 | NM_002444.3(MSN):c.1348C>T (p.Gln450Ter) | Pathogenic |
| 2130284 | NM_002444.3(MSN):c.13-1G>A | Likely pathogenic |
| 3337322 | NM_002444.3(MSN):c.1638_1648del (p.Glu547fs) | Likely pathogenic |
| 3653117 | NM_002444.3(MSN):c.1251+1G>A | Likely pathogenic |
| 372155 | NM_002444.3(MSN):c.1657C>T (p.Arg553Ter) | Likely pathogenic |
| 636909 | NM_002444.3(MSN):c.1580C>A (p.Ser527Ter) | Likely pathogenic |
| 804017 | NM_002444.3(MSN):c.1601A>C (p.Asp534Ala) | Likely pathogenic |
SpliceAI
1625 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:65667852:CGG:C | donor_loss | 1.0000 |
| X:65667853:GGT:G | donor_loss | 1.0000 |
| X:65667854:G:A | donor_loss | 1.0000 |
| X:65667855:T:G | donor_loss | 1.0000 |
| X:65667856:GAGT:G | donor_loss | 1.0000 |
| X:65716811:A:AG | acceptor_gain | 1.0000 |
| X:65716812:T:G | acceptor_gain | 1.0000 |
| X:65716813:CCTA:C | acceptor_loss | 1.0000 |
| X:65716814:CTAG:C | acceptor_loss | 1.0000 |
| X:65716815:TA:T | acceptor_loss | 1.0000 |
| X:65716816:A:AG | acceptor_gain | 1.0000 |
| X:65716817:G:GA | acceptor_gain | 1.0000 |
| X:65716817:GA:G | acceptor_gain | 1.0000 |
| X:65716817:GAT:G | acceptor_gain | 1.0000 |
| X:65716817:GATC:G | acceptor_gain | 1.0000 |
| X:65716817:GATCA:G | acceptor_gain | 1.0000 |
| X:65716900:AGGT:A | donor_loss | 1.0000 |
| X:65716901:GGTA:G | donor_loss | 1.0000 |
| X:65716902:GTAA:G | donor_loss | 1.0000 |
| X:65716903:T:A | donor_loss | 1.0000 |
| X:65727808:TTCTA:T | acceptor_loss | 1.0000 |
| X:65727809:TCTA:T | acceptor_loss | 1.0000 |
| X:65727810:CTAG:C | acceptor_loss | 1.0000 |
| X:65727811:TAGGT:T | acceptor_loss | 1.0000 |
| X:65727812:AGG:A | acceptor_loss | 1.0000 |
| X:65727906:GAAG:G | donor_gain | 1.0000 |
| X:65727906:GAAGG:G | donor_loss | 1.0000 |
| X:65727907:AAGGT:A | donor_loss | 1.0000 |
| X:65727908:AGGTA:A | donor_loss | 1.0000 |
| X:65727909:GGT:G | donor_loss | 1.0000 |
AlphaMissense
3849 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:65716845:G:C | A14P | 1.000 |
| X:65716852:T:C | L16P | 1.000 |
| X:65716857:T:C | F18L | 1.000 |
| X:65716858:T:C | F18S | 1.000 |
| X:65716859:T:A | F18L | 1.000 |
| X:65716859:T:G | F18L | 1.000 |
| X:65716881:G:A | G26R | 1.000 |
| X:65716881:G:C | G26R | 1.000 |
| X:65716881:G:T | G26W | 1.000 |
| X:65716882:G:A | G26E | 1.000 |
| X:65716882:G:T | G26V | 1.000 |
| X:65716891:T:C | L29P | 1.000 |
| X:65727836:G:T | R40M | 1.000 |
| X:65727837:G:C | R40S | 1.000 |
| X:65727837:G:T | R40S | 1.000 |
| X:65727838:G:A | E41K | 1.000 |
| X:65727839:A:T | E41V | 1.000 |
| X:65727844:T:A | W43R | 1.000 |
| X:65727844:T:C | W43R | 1.000 |
| X:65727853:G:C | G46R | 1.000 |
| X:65727854:G:A | G46D | 1.000 |
| X:65727857:T:C | L47P | 1.000 |
| X:65727889:T:A | W58R | 1.000 |
| X:65727889:T:C | W58R | 1.000 |
| X:65727893:T:C | L59P | 1.000 |
| X:65729495:T:C | F84L | 1.000 |
| X:65729497:C:A | F84L | 1.000 |
| X:65729497:C:G | F84L | 1.000 |
| X:65729502:C:A | P86H | 1.000 |
| X:65729596:C:G | C117W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017058 (X:65654420 T>G), RS1000018452 (X:65590074 C>A,T), RS1000026245 (X:65648638 C>A,T), RS1000027004 (X:65707886 T>C), RS1000058383 (X:65707385 A>G), RS1000123873 (X:65604016 GT>G), RS1000169570 (X:65623134 T>C), RS1000170588 (X:65698827 G>C), RS1000185662 (X:65699251 G>A,T), RS1000194836 (X:65640349 G>C), RS1000209736 (X:65640007 G>A), RS1000223920 (X:65626836 C>G), RS1000269771 (X:65598076 C>G), RS1000285093 (X:65691802 G>A,T), RS1000337104 (X:65691526 T>A,C)
Disease associations
OMIM: gene MIM:309845 | disease phenotypes: MIM:300988, MIM:209850
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| combined immunodeficiency due to moesin deficiency | Strong | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| combined immunodeficiency due to moesin deficiency | Definitive | XL |
Mondo (2): combined immunodeficiency due to moesin deficiency (MONDO:0010514), autism (MONDO:0005260)
Orphanet (1): Combined immunodeficiency due to Moesin deficiency (Orphanet:504530)
HPO phenotypes
7 total (8 of 7 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001875 | Decreased total neutrophil count |
| HP:0001888 | Decreased total lymphocyte count |
| HP:0002205 | Recurrent respiratory infections |
| HP:0004313 | Decreased circulating immunoglobulin concentration |
| HP:0000717 | Autism |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006661_188 | Male-pattern baldness | 4.000000e-09 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL4295733 (SINGLE PROTEIN), CHEMBL5465400 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 8 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.59 | Kd | 256.4 | nM | CHEMBL5653589 |
| 6.59 | ED50 | 256.4 | nM | CHEMBL5653589 |
| 5.44 | IC50 | 3600 | nM | CHEMBL244695 |
| 5.00 | IC50 | 1e+04 | nM | CHEMBL271690 |
PubChem BioAssay actives
3 with measured affinity, of 9 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148787: Binding affinity to human MSN incubated for 45 mins by Kinobead based pull down assay | kd | 0.2565 | uM |
| 3a,4,5,9b-tetrahydro-3H-cyclopenta[c]quinoline-4,8-dicarboxylic acid | 2037711: Inhibition of full-length human GST-tagged MSN/Venus-Flag-tagged CD44 interaction over-expressed in HEK293 cells incubated for 1 hr by chromatography-based GST-pulldown assay | ic50 | 3.6000 | uM |
| 6-carbamoyl-3a,4,5,9b-tetrahydro-3H-cyclopenta[c]quinoline-4-carboxylic acid | 2037711: Inhibition of full-length human GST-tagged MSN/Venus-Flag-tagged CD44 interaction over-expressed in HEK293 cells incubated for 1 hr by chromatography-based GST-pulldown assay | ic50 | 10.0000 | uM |
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 3 |
| bisphenol S | increases expression | 2 |
| Benzo(a)pyrene | increases methylation, decreases methylation, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression, decreases expression | 1 |
| quercitrin | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| ferrous chloride | increases expression | 1 |
| triphenyltin | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| tributyltinisothiocyanate | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| chloropicrin | affects expression | 1 |
| tanespimycin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | 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 | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4119031 | Binding | Binding affinity to MSN in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B9VN | Abcam HeLa MSN KO | Cancer cell line | Female |
| CVCL_SZ06 | HAP1 MSN (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With 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 |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| 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 |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Associated diseases: combined immunodeficiency due to moesin deficiency
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): combined immunodeficiency due to moesin deficiency