MORC2

Summary

MORC2 (MORC family CW-type zinc finger 2, HGNC:23573) is a protein-coding gene on chromosome 22q12.2, encoding ATPase MORC2 (Q9Y6X9). ATP-dependent chromatin remodeler essential for epigenetic silencing by the HUSH (human silencing hub) complex.

This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 22880 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease axonal type 2Z (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 1,059 total — 10 pathogenic, 17 likely-pathogenic
• Phenotypes (HPO): 108
• MANE Select transcript: NM_001303256

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23573
Approved symbol	MORC2
Name	MORC family CW-type zinc finger 2
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	ZCW3, KIAA0852, AC004542.C22.1
Ensembl gene	ENSG00000133422
Ensembl biotype	protein_coding
OMIM	616661
Entrez	22880

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 10 protein_coding, 9 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000215862, ENST00000397641, ENST00000429468, ENST00000445980, ENST00000469915, ENST00000476152, ENST00000674576, ENST00000674585, ENST00000675027, ENST00000675317, ENST00000675402, ENST00000675570, ENST00000675601, ENST00000675779, ENST00000675798, ENST00000676215, ENST00000676263, ENST00000852352, ENST00000924801, ENST00000924802, ENST00000924803, ENST00000924804, ENST00000924805, ENST00000959363

RefSeq mRNA: 3 — MANE Select: NM_001303256 NM_001303256, NM_001303257, NM_014941

CCDS: CCDS33636, CCDS77668

Canonical transcript exons

ENST00000397641 — 26 exons

Exon	Start	End
ENSE00000652696	30932359	30932452
ENSE00000652713	30932545	30932769
ENSE00000652724	30932889	30933030
ENSE00000652737	30933466	30933520
ENSE00000652751	30934060	30934191
ENSE00000652764	30934781	30935161
ENSE00000652787	30935248	30935322
ENSE00000652795	30936511	30936643
ENSE00000652799	30936932	30937037
ENSE00000652806	30937583	30937711
ENSE00000652814	30937815	30937969
ENSE00000652822	30938065	30938205
ENSE00000652830	30939621	30939706
ENSE00000652833	30939959	30940041
ENSE00000879839	30925130	30926871
ENSE00001168894	30928019	30928207
ENSE00001529564	30967822	30968774
ENSE00003497258	30956763	30956797
ENSE00003514291	30940758	30940837
ENSE00003564086	30950377	30950445
ENSE00003592637	30946341	30946449
ENSE00003596416	30941891	30942002
ENSE00003598750	30942112	30942271
ENSE00003629922	30949752	30949842
ENSE00003650158	30958641	30958694
ENSE00003686742	30941433	30941558

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 96.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3476 / max 87.3367, expressed in 1756 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193663	9.4580	1752
193661	0.7147	73
193662	0.1366	34
209451	0.0383	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cervix squamous epithelium	UBERON:0006922	96.40	gold quality
sperm	CL:0000019	96.23	gold quality
male germ cell	CL:0000015	95.59	gold quality
left testis	UBERON:0004533	95.17	gold quality
right testis	UBERON:0004534	95.11	gold quality
ganglionic eminence	UBERON:0004023	93.68	gold quality
testis	UBERON:0000473	93.38	gold quality
cortical plate	UBERON:0005343	92.99	gold quality
endothelial cell	CL:0000115	92.92	gold quality
stromal cell of endometrium	CL:0002255	92.86	gold quality
embryo	UBERON:0000922	92.74	gold quality
saphenous vein	UBERON:0007318	92.31	gold quality
ventricular zone	UBERON:0003053	92.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.28	gold quality
mucosa of stomach	UBERON:0001199	91.12	gold quality
amniotic fluid	UBERON:0000173	90.91	gold quality
adult organism	UBERON:0007023	90.87	gold quality
visceral pleura	UBERON:0002401	90.81	gold quality
popliteal artery	UBERON:0002250	90.36	gold quality
tibial artery	UBERON:0007610	90.35	gold quality
apex of heart	UBERON:0002098	90.16	gold quality
pylorus	UBERON:0001166	90.15	gold quality
gingival epithelium	UBERON:0001949	90.14	gold quality
aorta	UBERON:0000947	90.09	gold quality
sural nerve	UBERON:0015488	90.04	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.03	gold quality
right lobe of liver	UBERON:0001114	90.01	gold quality
lower esophagus	UBERON:0013473	90.01	gold quality
lower esophagus mucosa	UBERON:0035834	89.93	gold quality
granulocyte	CL:0000094	89.86	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-CURD-135	no	815.25
E-MTAB-6379	no	356.28
E-ANND-3	no	4.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting MORC2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-4460	99.37	68.52	615

Literature-anchored findings (GeneRIF, showing 37)

• Analysis of MORC2 functional domains, subcellular localization and mRNA and protein expression demonstrates its role of nuclear localization in association with a proline-rich domain regulating gene transcriptional repression in cancer cells. (PMID:20225202)
• the PAK1-MORC2 axis is critical for orchestrating the interplay between chromatin dynamics and the maintenance of genomic integrity through sequentially integrating multiple essential enzymatic processes. (PMID:23260667)
• these results demonstrate a cytosolic function of MORC2 in lipogenesis, adipogenic differentiation, and lipid homeostasis by regulating the activity of ACLY. (PMID:24286864)
• PAK1-mediated MORC2 phosphorylation promotes gastric tumorigenesis (PMID:25888627)
• MORC2 down-regulated p21 by recruiting HDAC1 to the p21 promoter, in a p53-independent manner. MORC2 expression correlated negatively with p21 expression in gastric tumors in patients. (PMID:26098774)
• MORC2 down-regulates the ArgBP2 via histone methylation in gastric cancer cells. (PMID:26476214)
• identified two different mutations in the MORC2 gene in patients from three unrelated families presenting with an axonal motor and sensory neuropathy. (PMID:26497905)
• have identified a new locus in which MORC2 mutations are the likely pathogenic cause of CMT2 and pyramidal signs in these families. (PMID:26659848)
• Differential viral accessibility shows that loss of MORC2 results in chromatin decompaction at HUSH complex target loci, concomitant with a loss of H3K9me3 deposition and transcriptional derepression. The ATPase activity of MORC2 is critical for HUSH-mediated silencing. The most common alteration affecting the ATPase domain in CMT patients (p.Arg252Trp) hyperactivates HUSH-mediated repression in neuronal cells. (PMID:28581500)
• results thus contribute to the knowledge of the regulatory mechanism of HSF1 in down-regulating ArgBP2, providing new insight into the HSF1&MORC2-PRC2-ArgBP2 signaling pathway and a better understanding of their functions in gastric cancer cells. (PMID:29339121)
• defects lead to the modulation of HUSH function, thus providing a molecular basis for understanding MORC2-associated neuropathies (PMID:29440755)
• MORC2 is widely expressed in human tissues but significantly up-regulated in many cancers, where it is associated with higher histologic grades and poor prognosis. (PMID:29555576)
• For the first time, to the best of our knowledge, the present study confirmed that MORC2 was a novel oncogene in liver cancer. These results provide useful insight into the mechanism underlying the tumorigenesis and progression of liver cancer, and offers clues into potential novel liver cancer therapies. (PMID:29620211)
• the gain-of-function effect of a single mutation on MORC2 promotes metastasis of triple-negative breast cancer by regulating CD44 splicing mediated by hnRNPM (PMID:30093560)
• Findings indicate the regulatory mechanism of microrchidia family CW-type zinc finger 2 (MORC2) in downregulating N-myc downstream-regulated gene 1 protein (NDRG1), and suggest MORC2 as a potential therapeutic target for colorectal cancer (CRC). (PMID:30407715)
• MORC2 was upregulated in lung cancers relative to adjacent tissues. The results also demonstrated that MORC2 promoted lung cancer tumor growth in vivo. Additionally, MORC2 overexpression stimulated the upregulation of vascular endothelial growth factor (VEGF), driving angiogenesis. MORC2 activated Wnt/beta-catenin signaling in lung cancer cells. (PMID:30504718)
• These changes were more pronounced and accompanied by abnormal axonal morphology, in neurons expressing the MORC2 p.S87L mutation, which is associated with a more severe clinical phenotype. (PMID:30624633)
• MORC2 regulates C/EBPalpha-mediated cell differentiation via sumoylation. (PMID:30644437)
• the findings of this study demonstrated the oncogenic role of MORC2 in cholangiocarcinoma tumorigenesis and metastasis, and clarified an underlying regulatory mechanism mediating MORC2 upregulation (PMID:31180332)
• The findings uncover a previously unrecognized mechanistic link between MORC2 and PARP1 in the regulation of cellular response to DNA damage. (PMID:31616951)
• The MORC2 can form a homodimer through its C-terminal coiled-coil (CC) domain, a process that is enhanced in response to chemotherapeutic drug camptothecin-induced DNA damage. (PMID:31796101)
• A role for MORC2 in regulating DNA damage-induced G2 checkpoint through NAT10-mediated acetylation. (PMID:32112098)
• De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. (PMID:32693025)
• The chromatin modifier MORC2 affects glucose metabolism by regulating the expression of lactate dehydrogenase A through a feed forward loop with c-Myc. (PMID:33626175)
• A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z. (PMID:33844363)
• Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients. (PMID:34059105)
• Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. (PMID:34189813)
• Microrchidia family CWtype zinc finger 2 promotes the proliferation, invasion, migration and epithelialmesenchymal transition of glioma by regulating PTEN/PI3K/AKT signaling via binding to Nmyc downstream regulated gene 1 promoter. (PMID:34913078)
• HSP90 N-terminal inhibitors target oncoprotein MORC2 for autophagic degradation and suppress MORC2-driven breast cancer progression. (PMID:35522895)
• Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy. (PMID:35904125)
• A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders. (PMID:35920923)
• MORC2 and MAX contributes to the expression of glycolytic enzymes, breast cancer cell proliferation and migration. (PMID:36802305)
• Destabilization of microrchidia family CW-type zinc finger 2 via the cyclin-dependent kinase 1-chaperone-mediated autophagy pathway promotes mitotic arrest and enhances cancer cellular sensitivity to microtubule-targeting agents. (PMID:36967563)
• Alternative polyadenylation reprogramming of MORC2 induced by NUDT21 loss promotes KIRC carcinogenesis. (PMID:37737260)
• Novel Insights into the Role of Chromatin Remodeler MORC2 in Cancer. (PMID:37892209)
• Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase. (PMID:38227798)
• MORC2 regulates RBM39-mediated CDK5RAP2 alternative splicing to promote EMT and metastasis in colon cancer. (PMID:39048555)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	morc2	ENSDARG00000028539
mus_musculus	Morc2a	ENSMUSG00000034543
mus_musculus	Morc2b	ENSMUSG00000048602
rattus_norvegicus	Morc2b	ENSRNOG00000004501
rattus_norvegicus	Morc2	ENSRNOG00000019624
caenorhabditis_elegans		WBGENE00022531

Paralogs (1): MORC1 (ENSG00000114487)

Protein

Protein identifiers

ATPase MORC2 — Q9Y6X9 (reviewed: Q9Y6X9)

Alternative names: MORC family CW-type zinc finger protein 2, Zinc finger CW-type coiled-coil domain protein 1

All UniProt accessions (4): A0A6Q8PGC6, A0A6Q8PHH3, Q9Y6X9, H7C1V1

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent chromatin remodeler essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing. Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression. During DNA damage response, regulates chromatin remodeling through ATP hydrolysis. Upon DNA damage, is phosphorylated by PAK1, both colocalize to chromatin and induce H2AX expression. ATPase activity is required and dependent of phosphorylation by PAK1 and presence of DNA. Recruits histone deacetylases, such as HDAC4, to promoter regions, causing local histone H3 deacetylation and transcriptional repression of genes such as CA9. Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation. Together with MPHOSPH8, mediates silencing of protocadherin genes in the nervous system.

Subunit / interactions. Homodimerizes upon ATP-binding and dissociate upon ATP hydrolysis; homodimerization is required for gene silencing. Interacts with HDAC4. Interacts with ACLY. Interacts with TASOR and MPHOSPH8; the interactions associate MORC2 with the HUSH complex which recruits MORC2 to heterochromatic loci.

Subcellular location. Nucleus. Cytoplasm. Cytosol. Chromosome. Nucleus matrix.

Tissue specificity. Highly expressed in smooth muscle, pancreas and testis.

Post-translational modifications. (Microbial infection) Ubiquitinated by herpes simplex virus 1/HHV-1 protein ICP0, leading to proteasomal degradation. Phosphorylated by PAK1 at Ser-739 upon DNA damage. Phosphorylation is required for ATPase activity and recruitment to damaged chromatin.

Disease relevance. Charcot-Marie-Tooth disease, axonal, type 2Z (CMT2Z) [MIM:616688] An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. The disease is caused by variants affecting the gene represented in this entry. Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. ATPase activity is dependent of phosphorylation by PAK1 and presence of DNA.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6X9-1	1	yes
Q9Y6X9-2	2

RefSeq proteins (3): NP_001290185, NP_001290186, NP_055756 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011124	Znf_CW	Domain
IPR036890	HATPase_C_sf	Homologous_superfamily
IPR041006	Morc_S5	Domain
IPR056360	Chromo_MORC2_6th	Domain

Pfam: PF07496, PF13589, PF17942, PF23327

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (135 total): sequence variant 28, strand 22, helix 19, mutagenesis site 16, modified residue 13, binding site 9, compositionally biased region 6, cross-link 6, turn 5, coiled-coil region 4, region of interest 3, initiator methionine 1, chain 1, zinc finger region 1, splice variant 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
5OF9	X-RAY DIFFRACTION	1.81
9CDH	ELECTRON MICROSCOPY	1.95
5OFB	X-RAY DIFFRACTION	2.02
9CDF	ELECTRON MICROSCOPY	2.39
9CDG	ELECTRON MICROSCOPY	2.43
9CDJ	ELECTRON MICROSCOPY	2.49
5OFA	X-RAY DIFFRACTION	2.57
9KQL	X-RAY DIFFRACTION	3.1
9CDI	ELECTRON MICROSCOPY	3.24

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6X9-F1	78.37	0.52

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 (9): 39; 39; 87–89; 99–105; 427; 499; 502; 525; 536

Post-translational modifications (19): 2, 582, 602, 615, 696, 705, 725, 730, 733, 739, 743, 777, 779, 652, 704, 716, 767, 819, 932

Mutagenesis-validated functional residues (16):

Position	Phenotype
18	abolishes homodimerization. no effect on atpase activity. loss of hush-dependent gene silencing.
39	loss of atp-binding and atpase activity. does not homodimerizes. seems to abolish chromatin compaction.
68	loss of atp-binding and atpase activity. loss of binding to atp and atpase activity; when associated with a-69. prevents
69	no effect on binding to atp and atpase activity; when associated with a-68.
266	increases hush-dependent gene silencing.
319	no effect on hush-dependent gene silencing.
326	loss of hush-dependent gene silencing. decreases dsdna-binding affinity; when associated with e-329 and e-333.
329	loss of hush-dependent gene silencing. decreases dsdna-binding affinity; when associated with e-326 and e-333.
333	loss of hush-dependent gene silencing. decreases dsdna-binding affinity; when associated with e-326 and e-329.
344	no effect on hush-dependent gene silencing.
351	no effect on hush-dependent gene silencing.
358	no effect on hush-dependent gene silencing.
725	no effect on phosphorylation by pak1.
730	no effect on phosphorylation by pak1.
739	abolishes phosphorylation by pak1. not recruited on damaged chromatin. loss of atpase activity. prevents chromatin remod
773	no effect on phosphorylation by pak1.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-75105	Fatty acyl-CoA biosynthesis
R-HSA-9843970	Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
R-HSA-1430728	Metabolism
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-556833	Metabolism of lipids
R-HSA-74160	Gene expression (Transcription)
R-HSA-8978868	Fatty acid metabolism
R-HSA-9842860	Regulation of endogenous retroelements

MSigDB gene sets: 312 (showing top): GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, ONKEN_UVEAL_MELANOMA_UP, GOBP_DNA_DAMAGE_RESPONSE, ATTCTTT_MIR186, LIAO_METASTASIS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, WANG_HCP_PROSTATE_CANCER, GOMF_CHROMATIN_BINDING, MARSON_BOUND_BY_FOXP3_UNSTIMULATED

GO Biological Process (6): chromatin remodeling (GO:0006338), fatty acid metabolic process (GO:0006631), DNA damage response (GO:0006974), constitutive heterochromatin formation (GO:0140719), transposable element silencing by heterochromatin formation (GO:0141005), lipid metabolic process (GO:0006629)

GO Molecular Function (12): magnesium ion binding (GO:0000287), chromatin binding (GO:0003682), ATP binding (GO:0005524), zinc ion binding (GO:0008270), ATP hydrolysis activity (GO:0016887), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), ATP-dependent chromatin remodeler activity (GO:0140658), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (7): heterochromatin (GO:0000792), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear matrix (GO:0016363), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Fatty acid metabolism	1
Regulation of endogenous retroelements	1
Gene expression (Transcription)	1
Metabolism	1
Metabolism of lipids	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
binding	2
nuclear lumen	2
chromatin organization	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
cellular response to stress	1
heterochromatin formation	1
transposable element silencing	1
constitutive heterochromatin formation	1
primary metabolic process	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
DNA binding	1
chromatin remodeling	1
ATP-dependent activity, acting on DNA	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
cation binding	1
chromatin	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1010 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MORC2	TASOR	Q9UK61	705
MORC2	MPHOSPH8	Q99549	697
MORC2	YIPF2	Q9BWQ6	694
MORC2	NAT10	Q9H0A0	540
MORC2	PPHLN1	Q8NEY8	526
MORC2	ARID4B	Q4LE39	500
MORC2	IGHMBP2	P38935	448
MORC2	FOXK1	P85037	421
MORC2	SMCHD1	A6NHR9	415
MORC2	SIN3A	Q96ST3	414
MORC2	GDAP1	Q8TB36	412
MORC2	SH3TC2	Q8TF17	407
MORC2	AAGAB	Q6PD74	378
MORC2	FGD4	Q96M96	370
MORC2	DHTKD1	Q96HY7	361

IntAct

44 interactions, top by confidence:

A	B	Type	Score
RBM7	PPP2R1A	psi-mi:“MI:0914”(association)	0.730
DHX8	AHCYL1	psi-mi:“MI:0914”(association)	0.640
SNX9	WASL	psi-mi:“MI:0914”(association)	0.640
MORC1	MORC2	psi-mi:“MI:0915”(physical association)	0.620
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
MORC2	P4HA2	psi-mi:“MI:0915”(physical association)	0.400
MORC2	B2M	psi-mi:“MI:0915”(physical association)	0.400
MORC2	PARP1	psi-mi:“MI:0915”(physical association)	0.400
MORC2	SH2D4A	psi-mi:“MI:0915”(physical association)	0.400
Cbx4	DNAJB6	psi-mi:“MI:0914”(association)	0.350
SGTB	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
HNRNPD	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SORT1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
MAX	SMARCA5	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
MORC1	RNF40	psi-mi:“MI:0914”(association)	0.350
LETM2	EIF3CL	psi-mi:“MI:0914”(association)	0.350
CD200R1	KIF2A	psi-mi:“MI:0914”(association)	0.350
KCMF1	CIT	psi-mi:“MI:0914”(association)	0.350
UCHL5	KIF2A	psi-mi:“MI:0914”(association)	0.350
H2BC10	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
HNF4A	TAF4	psi-mi:“MI:2364”(proximity)	0.270
NFIX	TAF4	psi-mi:“MI:2364”(proximity)	0.270
PAX6	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
TEAD1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (133): MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Co-fractionation), MORC2 (Proximity Label-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS), MORC2 (Affinity Capture-MS)

ESM2 similar proteins: A1CS00, A1CT57, A1D4V5, A1DMG9, A2Q8R2, A2Q8R9, A2QGF0, A2QVS9, A4R8D7, A4RN08, A6QYC6, A6RIS1, A7EFH4, B0XMV6, B8NG97, G0S024, I1RMK9, I1S4N7, P14017, P21594, P78621, Q01408, Q0CWI2, Q1DY43, Q1E2F4, Q2HG76, Q2U3W4, Q2UM19, Q2URJ5, Q4I8C9, Q4IJ84, Q4WHB7, Q4WKB5, Q4WN42, Q4WQJ1, Q4WUJ6, Q4WUT7, Q4WXA1, Q51LS1, Q5B423

Diamond homologs: F4JPP0, F4JRS4, F4K2G3, F4KAF2, F7BJB9, Q14149, Q56Y74, Q5CCK4, Q5FV35, Q69ZX6, Q6IR42, Q84WV6, Q8BMD7, Q8C5W4, Q8TE76, Q9M1I1, Q9WVL5, Q9Y6X9, Q0DIQ5, Q6Z3U3, Q23243, Q86VD1

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
PAK1	“up-regulates activity”	MORC2	phosphorylation
MORC2	“up-regulates activity”	NAT10	binding
PRKACA	“up-regulates quantity by stabilization”	MORC2	phosphorylation
CDK1	“down-regulates quantity by destabilization”	MORC2	phosphorylation
“HUSH epigenetic repressor complex”	“up-regulates activity”	MORC2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
mRNA Splicing - Major Pathway	8	9.9×	4e-04
Dengue Virus-Host Interactions	8	8.3×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
chromatin remodeling	8	11.0×	3e-04
RNA splicing	6	10.0×	4e-03
transcription by RNA polymerase II	6	8.0×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1059 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	17
Uncertain significance	531
Likely benign	386
Benign	41

Top pathogenic / likely-pathogenic (27)

Variant ID	HGVS	Classification
1699240	NM_001303256.3(MORC2):c.259T>C (p.Ser87Pro)	Pathogenic
2138437	NM_001303256.3(MORC2):c.1396G>A (p.Asp466Asn)	Pathogenic
218308	NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)	Pathogenic
2737036	NM_001303256.3(MORC2):c.1271C>G (p.Thr424Arg)	Pathogenic
3602082	NM_001303256.3(MORC2):c.1397A>G (p.Asp466Gly)	Pathogenic
3897854	NM_001303256.3(MORC2):c.755G>T (p.Arg252Leu)	Pathogenic
660304	NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)	Pathogenic
662781	NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)	Pathogenic
804164	NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)	Pathogenic
871542	NM_001303256.3(MORC2):c.707A>C (p.Glu236Ala)	Pathogenic
1174103	NM_001303256.3(MORC2):c.1238T>C (p.Val413Ala)	Likely pathogenic
1802171	NM_001303256.3(MORC2):c.317C>T (p.Ser106Leu)	Likely pathogenic
1802195	NM_001303256.3(MORC2):c.3031G>A (p.Asp1011Asn)	Likely pathogenic
2810254	NM_001303256.3(MORC2):c.1271C>A (p.Thr424Lys)	Likely pathogenic
3235749	NM_001303256.3(MORC2):c.810C>G (p.Cys270Trp)	Likely pathogenic
3256794	NM_001303256.3(MORC2):c.229G>C (p.Asp77His)	Likely pathogenic
3602632	NM_001303256.3(MORC2):c.265A>G (p.Lys89Glu)	Likely pathogenic
4687916	NM_001303256.3(MORC2):c.1219T>C (p.Cys407Arg)	Likely pathogenic
4687997	NM_001303256.3(MORC2):c.64A>C (p.Asn22His)	Likely pathogenic
4819353	NM_001303256.3(MORC2):c.301G>T (p.Gly101Trp)	Likely pathogenic
659166	NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)	Likely pathogenic
694959	NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)	Likely pathogenic
695096	NM_001303256.3(MORC2):c.263C>T (p.Ala88Val)	Likely pathogenic
804165	NM_001303256.3(MORC2):c.1237G>T (p.Val413Phe)	Likely pathogenic
804228	NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	Likely pathogenic
804304	NM_001303256.3(MORC2):c.1164C>G (p.Ser388Arg)	Likely pathogenic
992666	NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val)	Likely pathogenic

SpliceAI

3973 predictions. Top by Δscore:

Variant	Effect	Δscore
22:30926872:C:G	acceptor_loss	1.0000
22:30928015:TCACC:T	donor_loss	1.0000
22:30928016:CA:C	donor_loss	1.0000
22:30928017:ACCT:A	donor_gain	1.0000
22:30928018:CCTC:C	donor_gain	1.0000
22:30928020:T:TA	donor_gain	1.0000
22:30928203:TCCTT:T	acceptor_gain	1.0000
22:30928204:CCTTC:C	acceptor_gain	1.0000
22:30928205:CTT:C	acceptor_gain	1.0000
22:30928206:TT:T	acceptor_gain	1.0000
22:30928206:TTC:T	acceptor_loss	1.0000
22:30928207:TCTG:T	acceptor_loss	1.0000
22:30928208:C:CC	acceptor_gain	1.0000
22:30928208:CT:C	acceptor_loss	1.0000
22:30928211:T:TC	acceptor_gain	1.0000
22:30928218:C:CT	acceptor_gain	1.0000
22:30932540:TGTA:T	donor_loss	1.0000
22:30932541:GTACC:G	donor_loss	1.0000
22:30932542:TAC:T	donor_loss	1.0000
22:30932543:A:AC	donor_gain	1.0000
22:30932544:C:CC	donor_gain	1.0000
22:30932768:CC:C	acceptor_gain	1.0000
22:30932769:CC:C	acceptor_gain	1.0000
22:30932848:T:TA	donor_gain	1.0000
22:30934055:CTCA:C	donor_loss	1.0000
22:30934056:TCA:T	donor_loss	1.0000
22:30934187:GTAGC:G	acceptor_gain	1.0000
22:30934188:TAGC:T	acceptor_gain	1.0000
22:30934190:GC:G	acceptor_gain	1.0000
22:30934191:CC:C	acceptor_gain	1.0000

AlphaMissense

6754 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:30926822:A:G	L1027P	1.000
22:30928035:A:G	L1005P	1.000
22:30928038:A:G	L1004P	1.000
22:30928059:A:G	L997P	1.000
22:30936961:G:C	C525W	1.000
22:30936962:C:G	C525S	1.000
22:30936962:C:T	C525Y	1.000
22:30936963:A:G	C525R	1.000
22:30936963:A:T	C525S	1.000
22:30936969:A:G	W523R	1.000
22:30936969:A:T	W523R	1.000
22:30937018:T:A	R506S	1.000
22:30937018:T:G	R506S	1.000
22:30937019:C:G	R506T	1.000
22:30937021:C:A	W505C	1.000
22:30937021:C:G	W505C	1.000
22:30937023:A:G	W505R	1.000
22:30937023:A:T	W505R	1.000
22:30937032:A:G	C502R	1.000
22:30937584:G:C	C499W	1.000
22:30937586:A:G	C499R	1.000
22:30937688:A:G	W465R	1.000
22:30937688:A:T	W465R	1.000
22:30937844:A:G	L447P	1.000
22:30937868:A:G	L439P	1.000
22:30937894:A:C	F430L	1.000
22:30937894:A:T	F430L	1.000
22:30937895:A:G	F430S	1.000
22:30937896:A:G	F430L	1.000
22:30937900:C:A	Q428H	1.000

dbSNP variants (sampled 300 via entrez): RS1000060766 (22:30965776 T>C), RS1000249538 (22:30940175 T>A,G), RS1000284790 (22:30970519 G>C), RS1000323114 (22:30925884 G>C), RS1000336064 (22:30934797 G>A), RS1000570613 (22:30926222 C>T), RS1000593592 (22:30928874 G>A), RS1000615524 (22:30946702 A>G), RS1000757348 (22:30953836 G>A,T), RS1000791205 (22:30960684 T>C), RS1000849048 (22:30939897 A>G), RS1000885963 (22:30960487 T>G), RS1000960567 (22:30960881 T>C), RS1000999411 (22:30966987 G>C), RS1001040346 (22:30967743 A>G,T)

Disease associations

OMIM: gene MIM:616661 | disease phenotypes: MIM:616688, MIM:619090, MIM:118220, MIM:182960

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease axonal type 2Z	Definitive	Autosomal dominant
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
Leigh syndrome	Limited	AD
Charcot-Marie-Tooth disease axonal type 2Z	Definitive	AD

Mondo (8): Charcot-Marie-Tooth disease axonal type 2Z (MONDO:0014736), developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (MONDO:0030835), Charcot-Marie-Tooth disease (MONDO:0015626), distal hereditary motor neuropathy (MONDO:0018894), neurodevelopmental disorder (MONDO:0700092), neuronopathy, distal hereditary motor, autosomal dominant (MONDO:0015362), Charcot-Marie-Tooth disease type 1 (MONDO:0019011), Charcot-Marie-Tooth disease type 4 (MONDO:0018995)

Orphanet (6): Autosomal dominant Charcot-Marie-Tooth disease type 2Z (Orphanet:466768), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Distal hereditary motor neuropathy (Orphanet:53739), Autosomal dominant distal hereditary motor neuropathy (Orphanet:140465), Charcot-Marie-Tooth disease type 1 (Orphanet:65753), Charcot-Marie-Tooth disease type 4 (Orphanet:64749)

HPO phenotypes

108 total (30 of 108 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000467	Neck muscle weakness
HP:0000518	Cataract
HP:0000580	Pigmentary retinopathy
HP:0000750	Delayed speech and language development
HP:0001047	Atopic dermatitis
HP:0001171	Split hand
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001315	Reduced tendon reflexes
HP:0001328	Specific learning disability
HP:0001337	Tremor
HP:0001347	Hyperreflexia
HP:0001620	Abnormally high-pitched voice
HP:0001761	Pes cavus
HP:0001763	Pes planus

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

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
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression, affects phosphorylation, affects response to substance	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Bortezomib	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Catechin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Endosulfan	increases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Phenobarbital	affects expression	1
Gonadal Steroid Hormones	increases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0IB	Ubigene HeLa MORC2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
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
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
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
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project