SEPTIN9

Summary

SEPTIN9 (septin 9, HGNC:7323) is a protein-coding gene on chromosome 17q25.3, encoding Septin-9 (Q9UHD8). Filament-forming cytoskeletal GTPase.

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 10801 — RefSeq curated summary.

At a glance

• Gene–disease (curated): amyotrophic neuralgia (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 23
• Clinical variants (ClinVar): 780 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 40
• Druggable target: yes — 3 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001113491

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7323
Approved symbol	SEPTIN9
Name	septin 9
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1
Ensembl gene	ENSG00000184640
Ensembl biotype	protein_coding
OMIM	604061
Entrez	10801

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 31 protein_coding, 9 protein_coding_CDS_not_defined, 7 retained_intron, 3 nonsense_mediated_decay

ENST00000329047, ENST00000423034, ENST00000427177, ENST00000427180, ENST00000427674, ENST00000431235, ENST00000449803, ENST00000541152, ENST00000585638, ENST00000585929, ENST00000585930, ENST00000586128, ENST00000586433, ENST00000586456, ENST00000586521, ENST00000586812, ENST00000587237, ENST00000587514, ENST00000588575, ENST00000588690, ENST00000588958, ENST00000589070, ENST00000589140, ENST00000589246, ENST00000589250, ENST00000589920, ENST00000590059, ENST00000590294, ENST00000590576, ENST00000590586, ENST00000590595, ENST00000590825, ENST00000590917, ENST00000590938, ENST00000591020, ENST00000591088, ENST00000591198, ENST00000591472, ENST00000591704, ENST00000591833, ENST00000591934, ENST00000592098, ENST00000592407, ENST00000592420, ENST00000592481, ENST00000592951, ENST00000593189, ENST00000675703, ENST00000873887, ENST00000873888

RefSeq mRNA: 11 — MANE Select: NM_001113491 NM_001113491, NM_001113492, NM_001113493, NM_001113494, NM_001113495, NM_001113496, NM_001293695, NM_001293696, NM_001293697, NM_001293698, NM_006640

CCDS: CCDS45790, CCDS45791, CCDS45792, CCDS45793, CCDS45795, CCDS74166, CCDS77122

Canonical transcript exons

ENST00000427177 — 12 exons

Exon	Start	End
ENSE00001335864	77497315	77497366
ENSE00002692583	77281499	77281554
ENSE00003474192	77487424	77487552
ENSE00003504305	77402059	77402703
ENSE00003506699	77488727	77488864
ENSE00003527211	77307141	77307197
ENSE00003556057	77482144	77482335
ENSE00003619699	77488240	77488321
ENSE00003620974	77492621	77492716
ENSE00003690162	77492980	77493076
ENSE00003787821	77490742	77490859
ENSE00003843827	77498523	77500593

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 196.1109 / max 1262.8731, expressed in 1828 samples.

FANTOM5 promoters (54 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162961	57.5327	1545
162940	48.1165	1540
162982	26.1259	1427
162948	9.7788	1341
162955	7.6465	956
162950	6.4876	1201
162952	5.5558	987
162943	3.6522	752
162972	2.8191	642
162978	2.7681	799

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	99.33	gold quality
granulocyte	CL:0000094	99.18	gold quality
thymus	UBERON:0002370	99.16	gold quality
parotid gland	UBERON:0001831	99.15	gold quality
ventricular zone	UBERON:0003053	98.87	gold quality
lymph node	UBERON:0000029	98.84	gold quality
stromal cell of endometrium	CL:0002255	98.82	gold quality
vermiform appendix	UBERON:0001154	98.72	gold quality
ganglionic eminence	UBERON:0004023	98.69	gold quality
pancreatic ductal cell	CL:0002079	98.56	gold quality
caecum	UBERON:0001153	98.52	gold quality
skin of hip	UBERON:0001554	98.48	gold quality
leukocyte	CL:0000738	98.44	gold quality
mononuclear cell	CL:0000842	98.37	gold quality
monocyte	CL:0000576	98.34	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.32	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.32	gold quality
spleen	UBERON:0002106	98.31	gold quality
visceral pleura	UBERON:0002401	98.31	gold quality
urinary bladder	UBERON:0001255	98.29	gold quality
embryo	UBERON:0000922	98.28	gold quality
gall bladder	UBERON:0002110	98.25	gold quality
endocervix	UBERON:0000458	98.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.18	gold quality
left uterine tube	UBERON:0001303	98.15	gold quality
mucosa of stomach	UBERON:0001199	98.11	gold quality
cerebellar hemisphere	UBERON:0002245	98.11	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.11	gold quality
cerebellar cortex	UBERON:0002129	98.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.10	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	85.00
E-MTAB-8142	yes	16.10
E-MTAB-9067	yes	11.88
E-ANND-3	yes	6.51
E-CURD-122	yes	5.12
E-CURD-112	yes	3.57
E-MTAB-9689	no	410.16
E-CURD-120	no	6.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NKX3-1

miRNA regulators (miRDB)

109 targeting SEPTIN9, 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-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-6756-5P	99.82	67.97	2466

Literature-anchored findings (GeneRIF, showing 40)

• Describes alternative splicing of this gene. (PMID:11593400)
• Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25). (PMID:12095151)
• These results reveal that MSF is required for the completion of cytokinesis and suggest a role that is distinct from that of Nedd5. (PMID:12388755)
• Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules (PMID:12626509)
• Sept7/9b/11 form a complex that has effects on filament elongation, bundling, or disruption (PMID:15485874)
• overexpression of SEPT9 in neoplasia is not simply a proliferation-associated phenomenon, despite its role in cytokines (PMID:15782116)
• SEPT9_v1 is also upregulated in both serous and mucinous carcinomas (PMID:16161048)
• Three mutations in the gene septin 9 (SEPT9) in six families with hereditary neuralgic amyotrophy linked to chromosome 17q25 were reported. (PMID:16186812)
• MSF-A stabilizes HIF-1alpha protein by preventing its ubiquitination and, consequently, activates HIF downstreatm survival genes to promotor tumor progression and angiogenesis (PMID:16424018)
• SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling (PMID:17546647)
• SEPT9_V1 confers resistance to microtubule-mediated HIF-1 inhibitors. (PMID:18075300)
• Both children with dysmorphic syndrome of hereditary neuralgic amyotrophy were shown to have inherited the paternal SEPT9 mutation. (PMID:18492087)
• In this report confirming SEPT9 mutation in a family with suspected hereditary neuralgic amyotrophy, electrophysiological, clinical phenotype, and molecular genetic data of three members are presented. (PMID:18525421)
• monocytic differentiation and a poor prognosis may also be associated with acute myeloid leukemia with the variant MLL/SEPT9 fusion transcript (PMID:18642054)
• SEPT9 DNA methylation may have a role in colorectal cancer (PMID:19018278)
• In mammary epithelial cells, up-regulation of SEPT9_v1 stabilizes JNK by delaying its degradation, thereby activating the JNK transcriptome and suggesting a a novel functional role of SEPT9_v1 in driving cellular proliferation of mammary epithelial cells. (PMID:19071215)
• An intragenic 38 Kb SEPT9 duplication that is linked to hereditary neuralgic amyotrophy in 12 North American families that share the common founder haplotype, is reported. (PMID:19139049)
• Rarely, individuals with sporadic brachial plexopathy may have the same conserved 17q25 sequence found in many North American kindreds with the hereditary version. (PMID:19204161)
• a new mechanism of oxygen-independent activation of HIF-1 has been identified that is mediated by SEPT9_v1 blockade of RACK1 activity on HIF-1alpha degradation (PMID:19251694)
• SEPT9 assay successfully identified 72% of cancers at a specificity of 93% in the training study and 68% of cancers at a specificity of 89% in the testing study (PMID:19406918)
• Results suggest that mutation of the SEPT9 gene is the molecular basis of some cases of hereditary neuralgic amyotrophy (HNA). (PMID:19451530)
• A total of seven heterogeneous SEPT9 duplications have been identified in this study as a causative factor of hereditary neuralgic amyotrophy. (PMID:19939853)
• missense mutation c.262C>T results in a phenotypic spectrum of hereditary neuralgic amyotrophy in a large Japanese family (PMID:20019224)
• Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9. (PMID:20029986)
• Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25). (PMID:20113838)
• Data show that methylated DNA from advanced precancerous colorectal lesions can be detected using a panel of two DNA methylation markers, ALX4 and SEPT9. (PMID:20140221)
• New insights and validation are provided for applying SEPT9 transcript variant 1 as a potential target for antitumor therapy via interruption of the HIF-1 pathway. (PMID:20407014)
• Case represents an additional MLL-SEPT9-positive AML that was considered to be related to therapy. RT-PCR and sequencing analyses demonstrated MLL-SEPT9 fusion transcripts with the breakpoint of MLL exon 8/SEPT9 exon 2 and MLL exon 9/SEPT9 exon 2. (PMID:20682395)
• Data demonstrate that SEPT9 mediates the localization of the vesicle-tethering exocyst complex to the midbody, providing mechanistic insight into the role of SEPT9 during cell division. (PMID:21059847)
• Increased methylation of septin 9 resulting in decreased mRNA and protein expression is associated with colorectal cancer. (PMID:21267688)
• uneven distribution of SEPT9 among core septin heteromers causes heterogeneity with respect to both subunit number and polymerization interfaces (PMID:21737677)
• Data illustrated roles of SEPT9 that might contribute to hetero-trimeric septin complex formation. SEPT9 can substitute for septins of the SEPT2 group and partially for SEPT7. (PMID:21767235)
• SEPT9 gene amplification and overexpression during human breast tumorigenesis (PMID:21831286)
• SEPT9 holds a terminal position in the septin octamers, mediating abscission-specific polymerization during cytokinesis. (PMID:22123865)
• SEPT9_v4 expression may be clinically relevant and contribute to some forms of drug resistance. (PMID:22278362)
• Myeloid K562 cells express three SEPT9 isoforms, all of which have an equal propensity to hetero-oligomerize with SEPT7-containing hexamers to generate octameric heteromers. (PMID:22956766)
• The identification of a SEPT9 mutation in a neonate with respiratory distress due to vocal cord paralysis expands the differential diagnosis in these patients. (PMID:22981636)
• SEPT9 in plasma has a role in both left- and right-sided colon cancers (PMID:23049919)
• Matrix stiffness regulates endothelial cell proliferation through septin 9 (PMID:23118862)
• SEPT2 forms a 1:1:1 complex with SEPT7 and SEPT9. (PMID:23572511)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	septin9a	ENSDARG00000020235
danio_rerio	septin9b	ENSDARG00000103900
mus_musculus	Septin9	ENSMUSG00000059248
rattus_norvegicus	Septin9	ENSRNOG00000002807
drosophila_melanogaster	Septin2	FBGN0014029
caenorhabditis_elegans		WBGENE00006795

Paralogs (12): SEPTIN3 (ENSG00000100167), SEPTIN7 (ENSG00000122545), SEPTIN6 (ENSG00000125354), SEPTIN11 (ENSG00000138758), SEPTIN12 (ENSG00000140623), SEPTIN14 (ENSG00000154997), SEPTIN8 (ENSG00000164402), SEPTIN2 (ENSG00000168385), SEPTIN1 (ENSG00000180096), SEPTIN5 (ENSG00000184702), SEPTIN10 (ENSG00000186522), TMEM250 (ENSG00000238227)

Protein

Protein identifiers

Septin-9 — Q9UHD8 (reviewed: Q9UHD8)

Alternative names: MLL septin-like fusion protein MSF-A, Ovarian/Breast septin, Septin D1

All UniProt accessions (20): Q9UHD8, A0A0S2Z5A5, A0A6Q8PHC2, K7EIE4, K7EJ51, K7EJV0, K7EJZ2, K7EK18, K7EKN4, K7EL40, K7EMW8, K7EN52, K7ENL0, K7ENQ5, K7EPY1, K7EQ08, K7EQD7, K7ER14, K7ER34, K7ER52

UniProt curated annotations — full annotation on UniProt →

Function. Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.

Subunit / interactions. Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts with SEPTIN2, SEPTIN6, SEPTIN7, SEPTIN11 and SEPTIN14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signals cause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 and Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filaments with SEPTIN4.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the fetal tissues.

Disease relevance. A chromosomal aberration involving SEPTIN9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1. Hereditary neuralgic amyotrophy (HNA) [MIM:162100] Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9UHD8-1	1, Epsilon, MSF-A	yes
Q9UHD8-2	2, Alpha
Q9UHD8-3	3, Beta, MSF-B
Q9UHD8-4	4, Delta
Q9UHD8-5	5, Gamma
Q9UHD8-7	7
Q9UHD8-8	8
Q9UHD8-9	9

RefSeq proteins (11): NP_001106963, NP_001106964, NP_001106965, NP_001106966, NP_001106967, NP_001106968, NP_001280624, NP_001280625, NP_001280626, NP_001280627, NP_006631 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016491	Septin	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030379	G_SEPTIN_dom	Domain

Pfam: PF00735

UniProt features (72 total): modified residue 16, strand 12, helix 10, splice variant 9, binding site 6, region of interest 6, sequence variant 5, sequence conflict 2, turn 2, compositionally biased region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5CYO	X-RAY DIFFRACTION	2.04
4YQF	X-RAY DIFFRACTION	2.73
5CYP	X-RAY DIFFRACTION	2.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHD8-F1	67.42	0.39

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 (6): 305–312; 339; 365; 445–453; 501; 516

Post-translational modifications (16): 1, 22, 30, 38, 42, 49, 62, 82, 85, 89, 96, 142, 278, 327, 332, 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 442 (showing top): AP1_01, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GTGCCTT_MIR506, IRF7_01, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, AP1_Q4_01, GOBP_CYTOKINESIS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CILIUM_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN

GO Biological Process (6): intracellular protein localization (GO:0008104), actin cytoskeleton organization (GO:0030036), septin cytoskeleton organization (GO:0032185), cytoskeleton-dependent cytokinesis (GO:0061640), positive regulation of non-motile cilium assembly (GO:1902857), cell division (GO:0051301)

GO Molecular Function (6): GTPase activity (GO:0003924), GTP binding (GO:0005525), cadherin binding (GO:0045296), molecular adaptor activity (GO:0060090), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (14): stress fiber (GO:0001725), cytoplasm (GO:0005737), microtubule (GO:0005874), cilium (GO:0005929), axoneme (GO:0005930), septin ring (GO:0005940), actin cytoskeleton (GO:0015629), microtubule cytoskeleton (GO:0015630), septin complex (GO:0031105), cell division site (GO:0032153), intercellular bridge (GO:0045171), perinuclear region of cytoplasm (GO:0048471), non-motile cilium (GO:0097730), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoskeleton	4
cytoskeleton organization	2
binding	2
cell cortex	2
septin cytoskeleton	2
macromolecule localization	1
actin filament-based process	1
cytokinesis	1
positive regulation of cilium assembly	1
regulation of non-motile cilium assembly	1
non-motile cilium assembly	1
cellular process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cell adhesion molecule binding	1
molecular_function	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
actomyosin	1
contractile actin filament bundle	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule	1
ciliary plasm	1
protein-containing complex	1
cytoplasm	1
cilium	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1616 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEPTIN9	SEPTIN7	Q16181	970
SEPTIN9	SEPTIN6	Q14141	919
SEPTIN9	SEPTIN4	O43236	862
SEPTIN9	SEC14L1	Q92503	849
SEPTIN9	KIF17	Q9P2E2	822
SEPTIN9	RASSF1	Q9NS23	726
SEPTIN9	NDRG4	Q9ULP0	697
SEPTIN9	HIF1A	Q16665	685
SEPTIN9	MGMT	P16455	683
SEPTIN9	FLNA	P21333	679
SEPTIN9	CNRIP1	Q96F85	660
SEPTIN9	SHOX2	O60902	644
SEPTIN9	SEPTIN11	Q9NVA2	643
SEPTIN9	BMP3	P12645	620
SEPTIN9	ALX4	Q9H161	603

IntAct

135 interactions, top by confidence:

A	B	Type	Score
SEPTIN2	SEPTIN6	psi-mi:“MI:0914”(association)	0.950
SEPTIN6	SEPTIN2	psi-mi:“MI:0914”(association)	0.950
SEPTIN2	SEPTIN6	psi-mi:“MI:0915”(physical association)	0.950
SEPTIN7	SEPTIN6	psi-mi:“MI:0914”(association)	0.850
SEPTIN9	SEPTIN2	psi-mi:“MI:0914”(association)	0.840
SEPTIN9	SEPTIN2	psi-mi:“MI:0915”(physical association)	0.840
SEPTIN9	SEPTIN6	psi-mi:“MI:0915”(physical association)	0.800
SEPTIN6	SEPTIN9	psi-mi:“MI:0915”(physical association)	0.800
SEPTIN9	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN3	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN9	SEPTIN11	psi-mi:“MI:0915”(physical association)	0.770
SEPTIN9	SEPTIN7	psi-mi:“MI:0915”(physical association)	0.770
SEPTIN11	SEPTIN2	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SEPTIN2	SEPTIN8	psi-mi:“MI:0914”(association)	0.670
SEPTIN11	SEPTIN6	psi-mi:“MI:0914”(association)	0.640
CDC42EP4	SEPTIN6	psi-mi:“MI:0914”(association)	0.530
SEPTIN10	SEPTIN2	psi-mi:“MI:0914”(association)	0.530
SEPTIN11	SEPTIN4	psi-mi:“MI:0914”(association)	0.530
SEPTIN7	SEPTIN4	psi-mi:“MI:0914”(association)	0.530

BioGRID (368): SEPT6 (Two-hybrid), SEPT9 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), SEPT9 (Reconstituted Complex), SEPT9 (Co-crystal Structure), SEPT9 (Co-fractionation), SEPT9 (Co-fractionation), SEPT9 (Co-fractionation), SEPT9 (Affinity Capture-MS), SEPT9 (Two-hybrid), SEPT6 (Two-hybrid)

ESM2 similar proteins: A1CFB5, A1CHC0, A1CXG7, A1CYR9, A2QI73, A2QNQ8, A4RKF7, A8PWG8, B0Y601, B2B2C5, B2WME0, B8N9M5, C8VSE7, E4UPA0, F4KAF2, G0S9A7, J9VI03, P0CM78, P0CM79, P0CQ66, P0CQ67, P0CS06, P0CS07, P0CT47, P28661, P47950, Q02884, Q02959, Q07845, Q0CKU1, Q0U6Q5, Q1DHE5, Q1K8F6, Q2U0C4, Q2UC64, Q2UGP9, Q4I1T9, Q4IR18, Q4P4R3, Q4R4X5

Diamond homologs: A0A096MJN4, A0A3Q0KDV9, A1L0Y5, A2BGU8, A2VE99, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, G1UB61, O36023, O43236, O55131, O60165, P25342, P28661, P32457, P32458, P32468, P39826, P39827, P40797, P41901, P42207, P42208, P42209, P48008, P48009, P48010, P54359, Q04921, Q08DM7, Q09116

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SEPTIN9	down-regulates	ARHGEF18	binding
RTKN	down-regulates	SEPTIN9

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 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.

GO biological processes:

GO term	Partners	Fold	FDR
cytoskeleton-dependent cytokinesis	10	80.2×	1e-14
intracellular protein localization	12	12.6×	1e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

780 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	333
Likely benign	227
Benign	131

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
5863	NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)	Pathogenic
5864	NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe)	Pathogenic
5865	NM_001113491.2(SEPTIN9):c.76+12996G>C	Pathogenic
590282	t(11;17)(q23;q25)	Pathogenic
2445497	NC_000017.10:g.(?75316409)(75494740_?)dup	Likely pathogenic

SpliceAI

4997 predictions. Top by Δscore:

Variant	Effect	Δscore
17:77281550:CTCAG:C	donor_loss	1.0000
17:77281552:CAG:C	donor_loss	1.0000
17:77281553:AGG:A	donor_loss	1.0000
17:77281555:G:C	donor_loss	1.0000
17:77307195:CAGG:C	donor_loss	1.0000
17:77307197:GGTA:G	donor_loss	1.0000
17:77307198:G:C	donor_loss	1.0000
17:77307199:T:G	donor_loss	1.0000
17:77402699:GGAGG:G	donor_gain	1.0000
17:77402700:GAGGG:G	donor_gain	1.0000
17:77482140:CCAGC:C	acceptor_loss	1.0000
17:77482141:CAG:C	acceptor_loss	1.0000
17:77482142:A:AG	acceptor_gain	1.0000
17:77482142:A:G	acceptor_loss	1.0000
17:77482143:G:GG	acceptor_gain	1.0000
17:77482143:GC:G	acceptor_gain	1.0000
17:77482143:GCC:G	acceptor_gain	1.0000
17:77482143:GCCA:G	acceptor_gain	1.0000
17:77482143:GCCAC:G	acceptor_gain	1.0000
17:77482336:G:GG	donor_gain	1.0000
17:77482336:GTG:G	donor_loss	1.0000
17:77482337:TGAG:T	donor_loss	1.0000
17:77487419:CCCA:C	acceptor_loss	1.0000
17:77487420:CCA:C	acceptor_loss	1.0000
17:77487422:A:AG	acceptor_gain	1.0000
17:77487422:A:T	acceptor_loss	1.0000
17:77487422:AG:A	acceptor_gain	1.0000
17:77487423:G:A	acceptor_loss	1.0000
17:77487423:G:GG	acceptor_gain	1.0000
17:77487423:GG:G	acceptor_gain	1.0000

AlphaMissense

3854 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:77482260:G:A	G280R	1.000
17:77482260:G:C	G280R	1.000
17:77482261:G:A	G280E	1.000
17:77482296:G:C	A292P	1.000
17:77482335:G:A	G305R	1.000
17:77482335:G:C	G305R	1.000
17:77482335:G:T	G305W	1.000
17:77487424:G:A	G305E	1.000
17:77487424:G:T	G305V	1.000
17:77487433:G:A	G308D	1.000
17:77487438:G:C	G310R	1.000
17:77487439:G:A	G310D	1.000
17:77487442:A:T	K311I	1.000
17:77487463:T:C	L318P	1.000
17:77488270:T:C	L358P	1.000
17:77488290:G:A	G365R	1.000
17:77488290:G:C	G365R	1.000
17:77488290:G:T	G365W	1.000
17:77488291:G:A	G365E	1.000
17:77488293:T:C	F366L	1.000
17:77488295:C:A	F366L	1.000
17:77488295:C:G	F366L	1.000
17:77488297:G:A	G367E	1.000
17:77488728:T:A	W376R	1.000
17:77488728:T:C	W376R	1.000
17:77488774:T:C	L391P	1.000
17:77488797:C:A	R399S	1.000
17:77488821:C:A	R407S	1.000
17:77488822:G:C	R407P	1.000
17:77488825:T:A	V408D	1.000

dbSNP variants (sampled 300 via entrez): RS1000022520 (17:77327342 G>A), RS1000026605 (17:77481406 C>T), RS1000061680 (17:77413803 G>A,C), RS1000067034 (17:77480715 G>A), RS1000067580 (17:77345781 A>C,G), RS1000088793 (17:77441772 G>A), RS1000094308 (17:77487192 C>G), RS1000097246 (17:77413498 C>G), RS1000113719 (17:77380593 G>T), RS1000132558 (17:77323167 G>C), RS1000162611 (17:77394591 C>G,T), RS1000165567 (17:77461156 A>T), RS1000167596 (17:77282815 C>T), RS1000180866 (17:77426901 T>C), RS1000192976 (17:77360537 G>C)

Disease associations

OMIM: gene MIM:604061 | disease phenotypes: MIM:118220, MIM:162100, MIM:611523

GenCC curated gene-disease

Disease	Classification	Inheritance
amyotrophic neuralgia	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
neuralgic amyotrophy	Moderate	AD

Mondo (8): neuralgic amyotrophy (MONDO:0017362), Charcot-Marie-Tooth disease (MONDO:0015626), amyotrophic neuralgia (MONDO:0008076), cleft palate (MONDO:0016064), Charcot-Marie-Tooth disease type 1 (MONDO:0019011), pontocerebellar hypoplasia type 6 (MONDO:0012683), acute megakaryoblastic leukemia (MONDO:0018872), Charcot-Marie-Tooth disease type 4 (MONDO:0018995)

Orphanet (8): Neuralgic amyotrophy (Orphanet:2901), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Cleft palate (Orphanet:2014), Charcot-Marie-Tooth disease type 1 (Orphanet:65753), Pontocerebellar hypoplasia type 6 (Orphanet:166073), Acute megakaryoblastic leukemia (Orphanet:518), Charcot-Marie-Tooth disease type 4 (Orphanet:64749), Hereditary sodium channelopathy-related small fibers neuropathy (Orphanet:306577)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000286	Epicanthus
HP:0000311	Round face
HP:0000324	Facial asymmetry
HP:0000369	Low-set ears
HP:0000490	Deeply set eye
HP:0000508	Ptosis
HP:0000581	Blepharophimosis
HP:0000582	Upslanted palpebral fissure
HP:0000601	Hypotelorism
HP:0000764	Peripheral axonal degeneration
HP:0000912	Sprengel anomaly
HP:0001063	Acrocyanosis
HP:0001159	Syndactyly
HP:0001265	Hyporeflexia
HP:0001271	Polyneuropathy
HP:0001324	Muscle weakness
HP:0002093	Respiratory insufficiency
HP:0002167	Abnormal speech pattern
HP:0002360	Sleep disturbance
HP:0002829	Arthralgia
HP:0003202	Skeletal muscle atrophy
HP:0003401	Paresthesia
HP:0003457	EMG abnormality
HP:0003484	Upper limb muscle weakness
HP:0003691	Scapular winging
HP:0004322	Short stature

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000840_2	Body mass index	9.000000e-06
GCST001621_30	Airflow obstruction	9.000000e-06
GCST002133_6	Illicit drug use	9.000000e-06
GCST004776_6	Systolic blood pressure	1.000000e-08
GCST004776_77	Systolic blood pressure	4.000000e-10
GCST005580_196	Intraocular pressure	2.000000e-27
GCST005580_211	Intraocular pressure	2.000000e-23
GCST006288_297	Heel bone mineral density	7.000000e-13
GCST006288_365	Heel bone mineral density	1.000000e-06
GCST006288_64	Heel bone mineral density	5.000000e-06
GCST006616_2	Uterine fibroid number (single vs multiple)	6.000000e-07
GCST006979_253	Heel bone mineral density	5.000000e-28
GCST006979_254	Heel bone mineral density	1.000000e-11
GCST007928_15	Medication use (diuretics)	4.000000e-10
GCST007998_22	Intraocular pressure	2.000000e-07
GCST008504_3	Fasting glucose change (long-term)	9.000000e-07
GCST012013_16	Cataracts	4.000000e-15
GCST90000654_68	Central corneal thickness	2.000000e-10
GCST90002385_323	High light scatter reticulocyte count	1.000000e-09
GCST90002389_244	Lymphocyte percentage of white cells	3.000000e-12
GCST90002399_253	Neutrophil percentage of white cells	6.000000e-09
GCST90002401_557	Platelet distribution width	5.000000e-11
GCST90014268_37	Cataracts	9.000000e-28

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0003892	pulmonary function measurement
EFO:0005431	illegal drug consumption
EFO:0006335	systolic blood pressure
EFO:0004695	intraocular pressure measurement
EFO:0009270	heel bone mineral density
EFO:0009410	uterine fibroid measurement
EFO:0009928	Diuretic use measurement
EFO:0005213	central corneal thickness
EFO:0007986	reticulocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007984	platelet component distribution width

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D007947	Leukemia, Megakaryoblastic, Acute	C04.557.337.539.275.450; C15.378.508.539.275.450
C548074	Pontocerebellar Hypoplasia Type 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105891 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

3 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 11,488 (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
CHEMBL2105759	BARICITINIB	4	6,741
CHEMBL124660	TANDUTINIB	2	2,530
CHEMBL574737	UCN-01	2	2,217

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

7 potent at pChembl≥5 of 7 total, top 7 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.00	Kd	10	nM	TANDUTINIB
7.08	Kd	84	nM	BARICITINIB
6.96	Kd	109	nM	CHEMBL5653589
6.96	ED50	109	nM	CHEMBL5653589
6.20	Kd	635	nM	UCN-01
5.06	Kd	8648	nM	CHEMBL3752910
5.06	ED50	8648	nM	CHEMBL3752910

PubChem BioAssay actives

5 with measured affinity, of 244 total; 5 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-[6-methoxy-7-(3-piperidin-1-ylpropoxy)quinazolin-4-yl]-N-(4-propan-2-yloxyphenyl)piperazine-1-carboxamide	1425165: 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	0.0100	uM
Baricitinib	1425165: 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	0.0840	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149376: Binding affinity to human Sep9 incubated for 45 mins by Kinobead based pull down assay	kd	0.1090	uM
(2S,3R,4R,6R,18S)-18-hydroxy-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	1425165: 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	0.6350	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149376: Binding affinity to human Sep9 incubated for 45 mins by Kinobead based pull down assay	kd	8.6477	uM

CTD chemical–gene interactions

67 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression, decreases methylation	4
bisphenol A	decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
bisphenol F	affects cotreatment, decreases expression, increases expression	2
methacrylaldehyde	affects expression, increases expression, increases abundance, affects cotreatment	2
Acrolein	increases expression, increases abundance, affects cotreatment, affects expression	2
Ozone	affects cotreatment, affects expression, increases expression, increases abundance	2
Smoke	decreases expression	2
Aflatoxin B1	affects methylation, increases methylation	2
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
alpha-pinene	increases abundance, affects cotreatment, affects expression	1
propylparaben	increases expression	1
lead acetate	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	decreases expression, increases expression	1
methylparaben	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	affects methylation	1
cupric chloride	increases expression	1
jasplakinolide	affects expression, decreases reaction, affects localization	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3991878	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

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_KU02	HeLa SilenciX Septin 9	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02422056	PHASE4	COMPLETED	Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty
NCT02915042	PHASE4	WITHDRAWN	Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair
NCT02953145	PHASE4	WITHDRAWN	The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery
NCT03632044	PHASE4	ACTIVE_NOT_RECRUITING	Evaluation of Trigeminal Nerve Blockade
NCT06962306	PHASE4	RECRUITING	Optimizing Perioperative Analgesia to Lower Pain Following Cleft Palate Surgery
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00098319	PHASE3	COMPLETED	Oral Cleft Prevention Trial in Brazil
NCT00397917	PHASE3	COMPLETED	Oral Cleft Prevention Program
NCT04928352	PHASE3	RECRUITING	Nebulized Bupivacaine Analgesia for Cleft Palate Repair
NCT04928391	PHASE3	COMPLETED	A Single Bolus of Dexmedetomidine Versus Normal Saline in Postoperative Agitation
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT00004639	PHASE2	COMPLETED	Cleft Palate Surgery and Speech Development
NCT00760006	PHASE2	COMPLETED	Preventing Complications in Cleft Palate Repair With Antibiotics
NCT01760330	PHASE2	WITHDRAWN	IV Acetaminophen in Children Undergoing Palatoplasty
NCT02350803	PHASE2	COMPLETED	Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse?
NCT03412474	PHASE2	COMPLETED	Suprazygomatic Block in Cleft Palate Surgery in Children
NCT04083170	PHASE2	TERMINATED	Cord Blood Transplant With Dilanubicel for the Treatment of HIV Positive Hematologic Cancers
NCT03441347	Not specified	COMPLETED	Neuralgic Amyotrophy: Central Reorganization and Rehabilitation After Peripheral Dysfunction
NCT06740656	Not specified	NOT_YET_RECRUITING	Neuromuscular Complications of MEK Inhibitors: a French Case Series and a Systematic Review of the Literature
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	PHASE1/PHASE2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	PHASE1/PHASE2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	UNKNOWN	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients