EGR2

Summary

EGR2 (early growth response 2, HGNC:3239) is a protein-coding gene on chromosome 10q21.3, encoding E3 SUMO-protein ligase EGR2 (P11161). Sequence-specific DNA-binding transcription factor.

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 1959 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 27
• Clinical variants (ClinVar): 465 total — 12 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 43
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• Transcription factor: yes — 86 downstream targets (CollecTRI)
• MANE Select transcript: NM_000399

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3239
Approved symbol	EGR2
Name	early growth response 2
Location	10q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000122877
Ensembl biotype	protein_coding
OMIM	129010
Entrez	1959

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000242480, ENST00000411732, ENST00000439032, ENST00000637191, ENST00000639815, ENST00000690143, ENST00000691610

RefSeq mRNA: 6 — MANE Select: NM_000399 NM_000399, NM_001136177, NM_001136178, NM_001136179, NM_001321037, NM_001410931

CCDS: CCDS44409, CCDS7267, CCDS91248

Canonical transcript exons

ENST00000242480 — 2 exons

Exon	Start	End
ENSE00001093397	62815861	62816366
ENSE00001852646	62811996	62814468

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 92.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2986 / max 1026.6617, expressed in 1032 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109652	15.2382	994
109651	0.8803	231
109649	0.6060	124
109648	0.2010	93
109647	0.1355	65
109653	0.1267	65
109650	0.1109	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gall bladder	UBERON:0002110	92.61	gold quality
tibial nerve	UBERON:0001323	92.49	gold quality
granulocyte	CL:0000094	87.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.64	gold quality
monocyte	CL:0000576	85.26	gold quality
leukocyte	CL:0000738	84.95	gold quality
mucosa of stomach	UBERON:0001199	84.74	gold quality
smooth muscle tissue	UBERON:0001135	84.45	gold quality
sural nerve	UBERON:0015488	84.25	gold quality
skin of abdomen	UBERON:0001416	84.21	gold quality
lymph node	UBERON:0000029	82.31	gold quality
zone of skin	UBERON:0000014	81.51	gold quality
vermiform appendix	UBERON:0001154	80.45	gold quality
skin of leg	UBERON:0001511	79.72	gold quality
right atrium auricular region	UBERON:0006631	77.74	gold quality
adenohypophysis	UBERON:0002196	77.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.42	gold quality
thoracic mammary gland	UBERON:0005200	77.16	gold quality
omental fat pad	UBERON:0010414	76.67	gold quality
left uterine tube	UBERON:0001303	74.98	gold quality
layer of synovial tissue	UBERON:0007616	74.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.61	gold quality
thyroid gland	UBERON:0002046	74.31	gold quality
bone marrow	UBERON:0002371	74.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	74.07	gold quality
upper lobe of left lung	UBERON:0008952	73.70	gold quality
rectum	UBERON:0001052	73.62	gold quality
left lobe of thyroid gland	UBERON:0001120	73.45	gold quality
left coronary artery	UBERON:0001626	73.17	gold quality
superior frontal gyrus	UBERON:0002661	72.38	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-106540	yes	1691.55
E-GEOD-114530	yes	1235.90
E-GEOD-100618	yes	125.59
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

86 targets.

Target	Regulation
ACVR1
ADAM2
ALDOC
BGLAP
BTK
CAT
CBL	Activation
CCL1	Activation
CCL2
CD44
CD8A
CDKN1A	Unknown
CDKN1B
CDKN2A
CEBPB	Activation
CEL
CHD4
CISH
CNN1
CNTN2
COMMD7
CYP19A1
DDX20
DEFB4A
DGUOK
DHH	Unknown
EBP
EGFR
EGR1	Repression
EGR2

JASPAR motifs

Motif	Name	Family
MA0472.2	EGR2	Three-zinc finger Kruppel-related

JASPAR matrix evidence (PMIDs): PMID:7891721

Upstream regulators (CollecTRI, top): CEBPB, EGR1, EGR2, EGR3, ETS1, ETV4, EWSR1, GFI1, GLI1, HNF1B, NAB2, POU3F1, POU3F2, POU3F3, PTEN, SCD5, SMAD3, SOX10, SPI1, TBX21, TP53, ZNF354C

miRNA regulators (miRDB)

130 targeting EGR2, 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-4682	100.00	68.89	1258
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
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-8068	99.98	73.85	2376
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter (PMID:11909874)
• Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies (PMID:12471219)
• EGR2 mutant D355V induces a Cx32 promoter, mutant R381H doesn’t. A sequence located at -216, recognized by the wild-type and the mutant D355V recombinant proteins, is relevant for promoter transactivation. (PMID:12609493)
• we found that EGR2 could induce apoptosis in a large proportion of these lines by altering the permeability of mitochondrial membranes, releasing cytochrome c and activating caspase-3, -8, and -9. (PMID:12687019)
• This report detected a heterozygous Asp383Tyr mutation of EGR2 in one patient with severe CMT1, Dejerine-Sottas syndrome. (PMID:12736090)
• a possible molecular mechanism to account for down-regulation of EGR2 in tumor cells (PMID:14596916)
• Egr-2 and Egr-3 transcription is enhanced by Hepatitis B virus X protein, which induces fasL gene expression (PMID:15173177)
• A Charcot-Marie-Tooth syndrome in a family with a missense mutation in EGR2. (PMID:15947997)
• One novel de-novo mutation (Arg359Gln, R359Q) was identified in heterozygous state in a patient with a typical CMT1 phenotype, progressive moderate thoracolumbar scoliosis and without clinical signs of cranial nerve dysfunction. (PMID:16198564)
• Control of Krox20 transcription relies on three very long-range enhancer elements (A, B and C) that are conserved in chick, mouse and human genomes. (PMID:16495311)
• morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain (PMID:17717711)
• Collectively, these data indicate that EGR2 is specifically upregulated by a parasite-derived secreted factor that is most likely a resident rhoptry protein. (PMID:18678671)
• Dysregulation of EGR2 and MeCP2 plays roles in in Rett syndrome and autism. (PMID:19000991)
• AIP2 regulates activation-induced T-cell death by suppressing EGR2-mediated FasL expression via the ubiquitin pathway (PMID:19651900)
• overexpression of miR-150 in gastric cancer could promote proliferation and growth of cancer cells at least partially through directly targeting the tumor-suppressor EGR2. (PMID:20067763)
• EGR2 is a genetic risk factor for Systemic lupus erythematosus (SLE), in which increased gene expression may contribute to SLE pathogenesis. (PMID:20194224)
• Results suggest that in many cells of neuroectodermal and epithelial origin EGR1, EGR2, and EGR3 activate NAB2 transcription which is in turn repressed by NAB2, thus establishing a negative feedback loop. (PMID:20506119)
• EGR2 mutation(amino aacid substitution) identifies a case of Charcot-Marie-Totth disease. (PMID:20513111)
• EGR2 is a direct transcriptional target of p53 family that can in part mediate the p53-dependent apoptotic pathway. (PMID:21042708)
• Schwann cells expressed myelin proteins and Krox20 which is an important regulator of peripheral myelination. (PMID:21057508)
• These data define serum response factor as a host cell transcription factor that regulates immediate early gene expression in Toxoplasma-infected cells. (PMID:21479245)
• these findings suggest that Egr-2 plays an important nonredundant role in the pathogenesis of fibrosis. (PMID:21514423)
• TGF-beta3 regulated Egr-2 gene expression in uterine leiomyoma cells. (PMID:21703609)
• Krox20 functions as a SUMO ligase for its coregulators–the Nab proteins–and that Nab sumoylation negatively modulates Krox20 transcriptional activity in vivo. (PMID:21836637)
• Combined with a plausible biological function of EGR2, the EGR2 gene is a possible susceptibility gene in bipolar disorder. (PMID:22089088)
• Results identify a mutation in EGR2 in a Charcot-Marie-tooth disease patient with hypersensitivity to vincristine. (PMID:22271166)
• Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. (PMID:22327514)
• data further demonstrate the major role of the myelinating Schwann cell element in the regulation of EGR2 expression in the human peripheral nervous system (PMID:22522483)
• Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation exhibits a mild phenotype in a Czech family. (PMID:22546699)
• data suggest a tendency of gender-specific association of EGR2 and EGR4 in schizophrenia. (PMID:22691714)
• we report on a heterozygous mutation in EGR2 in a family with a mild demyelinating form of adult-onset Charcot-Marie-Tooth disease (PMID:22734907)
• In Greek Charcot-Marie-Tooth type 1 patients, 3 pathogenic mutations were found (3.5%); two recently reported micromutations in PMP22 3, and one known point mutation in EGR2 (PMID:22765307)
• Egr2 expression is translationally regulated via an IRES element, which is responsive to an inflammatory environment. (PMID:22915601)
• EGR2 and EGR3 are regulated by NFkappaB and MAPK signalling pathways downstream of TNFalpha stimulation in breast adipose fibroblasts, and this in turn is upstream of CYP19A1 transcription via PI.4 (PMID:23485457)
• Lack of association of EGR2 variants with bipolar disorder in Japanese population. (PMID:23747400)
• Overexpression of EGR2 significantly attenuated the oncogenic effect of miR-20a. (PMID:23924943)
• transcription factor early growth response gene-2 is a novel molecular switch regulating known immunomodulatory molecules in human mesenchymal stem cells. (PMID:24007274)
• Dysregulated Egr-2 is observed in some human autoimmune disorders. (PMID:25381473)
• our data suggest that robust CD26 costimulatory signaling induces preferential expression of EGR2 and IL-10 as a potential mechanism for regulating CD26-mediated activation. (PMID:25548232)
• Knock-down of EGR2 with siRNA was demonstrated to have a similar effect as the over-expression of miR-330-3p in NSCLC cell lines (PMID:25935837)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	egr2b	ENSDARG00000042826
mus_musculus	Egr2	ENSMUSG00000037868
rattus_norvegicus	Egr2	ENSRNOG00000000640

Paralogs (4): EGR1 (ENSG00000120738), EGR4 (ENSG00000135625), EGR3 (ENSG00000179388), WT1 (ENSG00000184937)

Protein

Protein identifiers

E3 SUMO-protein ligase EGR2 — P11161 (reviewed: P11161)

Alternative names: AT591, E3 SUMO-protein transferase ERG2, Early growth response protein 2, Zinc finger protein Krox-20

All UniProt accessions (5): A0A1B0GUL0, A0A8I5KVU0, A0A8I5KYI5, A0A8I5QL03, P11161

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific DNA-binding transcription factor. Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin. Binds to two EGR2-consensus sites EGR2A (5’-CTGTAGGAG-3’) and EGR2B (5’-ATGTAGGTG-3’) in the HOXB3 enhancer and promotes HOXB3 transcriptional activation. Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2. Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres. Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain. Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells. Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons. May play a role in adipogenesis, possibly by regulating the expression of CEBPB. E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity.

Subunit / interactions. Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9. Interacts with CITED1. Interacts (via phosphorylated form) with SFN.

Subcellular location. Nucleus.

Post-translational modifications. Ubiquitinated by WWP2 leading to proteasomal degradation. Acetylated at Lys-247. May be deacetylated by HDAC6, HDAC10 or SIRT1.

Disease relevance. Neuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1) [MIM:605253] A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. The disease is caused by variants affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2. Charcot-Marie-Tooth disease, demyelinating, type 1D (CMT1D) [MIM:607678] A dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. The disease is caused by variants affecting the gene represented in this entry. Dejerine-Sottas syndrome (DSS) [MIM:145900] A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein sumoylation.

Similarity. Belongs to the EGR C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
P11161-1	Long	yes
P11161-2	Short

RefSeq proteins (6): NP_000390, NP_001129649, NP_001129650, NP_001129651, NP_001307966, NP_001397860 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR021849	EGR_N	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF11928

UniProt features (31 total): sequence variant 12, compositionally biased region 4, region of interest 4, zinc finger region 3, sequence conflict 3, chain 1, modified residue 1, splice variant 1, mutagenesis site 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11161-F1	49.02	0.03

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 (1): 247

Mutagenesis-validated functional residues (1):

Position	Phenotype
162–165	inhibits association with hcfc1.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9031628	NGF-stimulated transcription
R-HSA-9619665	EGR2 and SOX10-mediated initiation of Schwann cell myelination

MSigDB gene sets: 657 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_HINDBRAIN_DEVELOPMENT, AAGCAAT_MIR137, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GOBP_BEHAVIOR, STAEGE_EWING_FAMILY_TUMOR, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, MCBRYAN_TERMINAL_END_BUD_UP

GO Biological Process (26): regulation of transcription by RNA polymerase II (GO:0006357), protein export from nucleus (GO:0006611), brain development (GO:0007420), peripheral nervous system development (GO:0007422), rhythmic behavior (GO:0007622), motor neuron axon guidance (GO:0008045), gene expression (GO:0010467), Schwann cell differentiation (GO:0014037), positive regulation of Schwann cell differentiation (GO:0014040), protein sumoylation (GO:0016925), facial nerve structural organization (GO:0021612), rhombomere 3 structural organization (GO:0021659), rhombomere 3 formation (GO:0021660), rhombomere 5 structural organization (GO:0021665), rhombomere 5 formation (GO:0021666), regulation of ossification (GO:0030278), positive regulation of myelination (GO:0031643), brain segmentation (GO:0035284), aorta development (GO:0035904), skeletal muscle cell differentiation (GO:0035914), myelination (GO:0042552), fat cell differentiation (GO:0045444), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355), rhombomere 3 development (GO:0021569)

GO Molecular Function (16): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), ubiquitin protein ligase binding (GO:0031625), sequence-specific DNA binding (GO:0043565), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), SUMO ligase activity (GO:0061665), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Adipogenesis	1
Activation of HOX genes during differentiation	1
Nuclear Events (kinase and transcription factor activation)	1
Nervous system development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of DNA-templated transcription	2
rhombomere structural organization	2
rhombomere 3 morphogenesis	2
rhombomere formation	2
rhombomere 5 morphogenesis	2
binding	2
transcription by RNA polymerase II	1
intracellular protein transport	1
nuclear export	1
central nervous system development	1
animal organ development	1
head development	1
nervous system development	1
system development	1
behavior	1
axon guidance	1
macromolecule biosynthetic process	1
peripheral nervous system development	1
glial cell differentiation	1
Schwann cell differentiation	1
regulation of Schwann cell differentiation	1
positive regulation of glial cell differentiation	1
peptidyl-lysine modification	1
protein modification by small protein conjugation	1
cranial nerve structural organization	1
facial nerve morphogenesis	1
ossification	1
regulation of multicellular organismal process	1
regulation of myelination	1
positive regulation of nervous system process	1
myelination	1
positive regulation of cellular process	1
brain development	1
segmentation	1
central nervous system segmentation	1
artery development	1
skeletal muscle tissue development	1
cell differentiation	1

Protein interactions and networks

STRING

3086 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EGR2	NAB1	Q13506	957
EGR2	NAB2	Q15742	954
EGR2	GJB1	P08034	870
EGR2	SOX10	P56693	860
EGR2	FOS	P01100	858
EGR2	PRX	Q9BXM0	852
EGR2	RNMT	O43148	838
EGR2	MPZL1	O95297	827
EGR2	PMP22	Q01453	780
EGR2	POU3F1	Q03052	758
EGR2	NFATC4	Q14934	752
EGR2	FOSB	P53539	698
EGR2	MAG	P20916	675
EGR2	NR4A1	P22736	665
EGR2	NFATC3	Q12968	661

IntAct

13 interactions, top by confidence:

A	B	Type	Score
SNAI1	KDM1A	psi-mi:“MI:0914”(association)	0.830
EGR2	RBM11	psi-mi:“MI:0915”(physical association)	0.400
EGR2	BPGM	psi-mi:“MI:0915”(physical association)	0.370
NDUFS2	EGR2	psi-mi:“MI:0915”(physical association)	0.370
RBM15B	EGR2	psi-mi:“MI:0915”(physical association)	0.370
RIMKLB	EGR2	psi-mi:“MI:0915”(physical association)	0.370
EGR2	JPT2	psi-mi:“MI:0915”(physical association)	0.370
EGR2	RPL7L1	psi-mi:“MI:0915”(physical association)	0.370
EGR2	HCFC1	psi-mi:“MI:0915”(physical association)	0.370
EGR2	Nab2	psi-mi:“MI:0403”(colocalization)	0.270
EGR2	MED31	psi-mi:“MI:0915”(physical association)	0.000
EGR2	ACP5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (170): EGR2 (Affinity Capture-MS), EGR2 (Reconstituted Complex), EGR2 (Affinity Capture-MS), GOLGA2 (Two-hybrid), PDE4DIP (Two-hybrid), HCFC1 (Two-hybrid), EGR2 (Synthetic Lethality), ACP5 (Two-hybrid), MED31 (Two-hybrid), MCRS1 (Two-hybrid), EGR2 (Reconstituted Complex), EGR2 (Affinity Capture-RNA), EGR2 (Affinity Capture-MS), EGR2 (Protein-RNA), EGR2 (Affinity Capture-MS)

ESM2 similar proteins: A1XSY8, O08656, O43474, P08046, P08151, P08152, P08154, P09022, P09027, P10070, P11161, P13360, P15976, P17679, P18146, P19544, P22561, P26632, P26633, P31249, P40656, P43300, P43301, P43429, P46153, P47806, P49639, P49952, P50476, P51774, Q05159, Q06889, Q07424, Q08427, Q0VGT2, Q29W20, Q60793, Q61169, Q6NW96, Q6P0J3

Diamond homologs: A1XSY8, A4II20, O73691, O73692, O73693, O73694, P08046, P08152, P08154, P11161, P18146, P26632, P26633, P26634, P26635, P31509, P43300, P43301, P51774, P80944, Q00453, Q00911, Q05159, Q05215, Q06889, Q08427, Q12132, Q18250, Q29419, Q29W20, Q6GQH4, Q6NTY6, Q9GL32, Q9WUF2, A1C6L9, A1DH89, A2QCJ9, B0XSK6, B8NGC8, O14335

SIGNOR signaling

11 interactions.

A	Effect	B	Mechanism
EGR2	“up-regulates quantity by expression”	CEBPB	“transcriptional regulation”
EGR2	“up-regulates quantity by expression”	NAB2	“transcriptional regulation”
EGR2	“down-regulates quantity by repression”	NAB2	“transcriptional regulation”
NAB2	“down-regulates quantity by repression”	EGR2	“transcriptional regulation”
EGR2	up-regulates	Monocyte_differentiation
EGR2	down-regulates	Proliferation
PTEN	“up-regulates quantity by expression”	EGR2	“transcriptional regulation”
WWP2	“down-regulates quantity”	EGR2	ubiquitination
SPI1	“up-regulates quantity by expression”	EGR2	“transcriptional regulation”
EGR2	“down-regulates quantity by repression”	GFI1	“transcriptional regulation”
GFI1	“down-regulates quantity by repression”	EGR2	“transcriptional regulation”

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — CLLSLL.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	4
Uncertain significance	274
Likely benign	129
Benign	15

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1075624	NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu)	Pathogenic
1525978	NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)	Pathogenic
16750	NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	Pathogenic
16752	NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)	Pathogenic
16753	NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)	Pathogenic
1685761	NM_000399.5(EGR2):c.1152C>A (p.His384Gln)	Pathogenic
246474	NM_000399.5(EGR2):c.1151A>G (p.His384Arg)	Pathogenic
409979	NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)	Pathogenic
41007	NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)	Pathogenic
41008	NM_000399.5(EGR2):c.1142G>A (p.Arg381His)	Pathogenic
577101	NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys)	Pathogenic
637524	NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)	Pathogenic
1176247	NM_000399.5(EGR2):c.1231G>T (p.Asp411Tyr)	Likely pathogenic
2578410	NM_000399.5(EGR2):c.1154T>A (p.Leu385His)	Likely pathogenic
391755	NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln)	Likely pathogenic
4533284	NM_000399.5(EGR2):c.1150C>A (p.His384Asn)	Likely pathogenic

SpliceAI

348 predictions. Top by Δscore:

Variant	Effect	Δscore
10:62814467:ATCTG:A	acceptor_loss	0.9900
10:62814468:TC:T	acceptor_loss	0.9900
10:62814469:C:A	acceptor_loss	0.9900
10:62814470:T:A	acceptor_loss	0.9900
10:62815856:CTTA:C	donor_loss	0.9900
10:62815858:TA:T	donor_loss	0.9900
10:62815862:T:TA	donor_gain	0.9900
10:62816257:T:A	donor_gain	0.9900
10:62814465:CCAT:C	acceptor_gain	0.9800
10:62814466:CATC:C	acceptor_gain	0.9800
10:62815859:A:AC	donor_gain	0.9800
10:62815859:ACCT:A	donor_gain	0.9800
10:62815860:C:CC	donor_gain	0.9800
10:62815860:CCT:C	donor_gain	0.9800
10:62815860:CCTC:C	donor_gain	0.9800
10:62816251:A:AC	donor_gain	0.9800
10:62816252:C:CC	donor_gain	0.9800
10:62816252:CTCT:C	donor_gain	0.9800
10:62816252:CT:C	donor_gain	0.9700
10:62815178:T:A	donor_gain	0.9600
10:62814469:C:CC	acceptor_gain	0.9500
10:62814991:C:CA	donor_gain	0.9500
10:62814995:C:A	donor_gain	0.9500
10:62816244:G:A	donor_gain	0.9500
10:62816250:G:T	donor_gain	0.9500
10:62814466:CAT:C	acceptor_gain	0.9400
10:62815319:ACCC:A	donor_gain	0.9400
10:62815320:CCCC:C	donor_gain	0.9400
10:62815813:C:CT	donor_gain	0.9400
10:62815331:T:TA	donor_gain	0.9100

AlphaMissense

3067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:62813380:G:C	H420D	1.000
10:62813392:G:C	H416D	1.000
10:62813417:A:C	F407L	1.000
10:62813417:A:T	F407L	1.000
10:62813418:A:C	F407C	1.000
10:62813418:A:G	F407S	1.000
10:62813419:A:G	F407L	1.000
10:62813429:A:C	C403W	1.000
10:62813430:C:G	C403S	1.000
10:62813430:C:T	C403Y	1.000
10:62813431:A:G	C403R	1.000
10:62813431:A:T	C403S	1.000
10:62813438:A:C	C400W	1.000
10:62813439:C:T	C400Y	1.000
10:62813440:A:G	C400R	1.000
10:62813484:A:G	L385P	1.000
10:62813501:G:C	F379L	1.000
10:62813501:G:T	F379L	1.000
10:62813502:A:G	F379S	1.000
10:62813503:A:G	F379L	1.000
10:62813513:G:C	C375W	1.000
10:62813515:A:G	C375R	1.000
10:62813522:A:C	C372W	1.000
10:62813524:A:G	C372R	1.000
10:62813528:G:C	F370L	1.000
10:62813528:G:T	F370L	1.000
10:62813530:A:G	F370L	1.000
10:62813585:G:C	F351L	1.000
10:62813585:G:T	F351L	1.000
10:62813586:A:G	F351S	1.000

dbSNP variants (sampled 300 via entrez): RS1000492190 (10:62817475 G>T), RS1001016379 (10:62818514 A>C), RS1001637961 (10:62820889 C>A,G,T), RS1001909299 (10:62820243 T>A,C), RS1001993762 (10:62818028 T>A), RS1002045782 (10:62817852 C>A,T), RS1002096829 (10:62817557 G>A), RS1002097510 (10:62819468 C>A,T), RS1002639697 (10:62816403 T>C,G), RS1002895805 (10:62812796 G>A,C,T), RS1003054029 (10:62818973 C>A,T), RS1003086717 (10:62818727 G>A,C), RS1003358758 (10:62812516 T>C), RS1004335545 (10:62813483 G>A), RS1004363605 (10:62812769 T>C)

Disease associations

OMIM: gene MIM:129010 | disease phenotypes: MIM:607678, MIM:145900, MIM:605253, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease type 4E	Definitive	Autosomal recessive
Charcot-Marie-Tooth disease type 1D	Strong	Autosomal dominant
Charcot-Marie-Tooth disease	Strong	Semidominant
Charcot-Marie-Tooth disease type 3	Moderate	Semidominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease	Definitive	SD

Mondo (5): Charcot-Marie-Tooth disease type 1 (MONDO:0019011), Charcot-Marie-Tooth disease type 1D (MONDO:0011890), Charcot-Marie-Tooth disease type 3 (MONDO:0007790), Charcot-Marie-Tooth disease type 4E (MONDO:0011527), Charcot-Marie-Tooth disease (MONDO:0015626)

Orphanet (5): Charcot-Marie-Tooth disease type 1 (Orphanet:65753), Charcot-Marie-Tooth disease type 1D (Orphanet:101084), Dejerine-Sottas syndrome (Orphanet:64748), Charcot-Marie-Tooth disease type 4E (Orphanet:99951), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166)

HPO phenotypes

43 total (30 of 43 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000639	Nystagmus
HP:0001171	Split hand
HP:0001178	Ulnar claw
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001291	Abnormal cranial nerve morphology
HP:0001308	Tongue fasciculations
HP:0001319	Neonatal hypotonia
HP:0001761	Pes cavus
HP:0001763	Pes planus
HP:0001765	Hammertoe
HP:0002093	Respiratory insufficiency
HP:0002136	Broad-based gait
HP:0002460	Distal muscle weakness
HP:0002650	Scoliosis
HP:0002751	Kyphoscoliosis
HP:0002922	Increased CSF protein concentration
HP:0002936	Distal sensory impairment
HP:0003376	Steppage gait
HP:0003380	Decreased number of peripheral myelinated nerve fibers
HP:0003382	Hypertrophic nerve changes
HP:0003383	Onion bulb formation
HP:0003431	Decreased motor nerve conduction velocity
HP:0003448	Decreased sensory nerve conduction velocity
HP:0003481	Segmental peripheral demyelination/remyelination
HP:0003484	Upper limb muscle weakness

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST001407_3	Ewing sarcoma	4.000000e-17
GCST001531_14	Temperament	3.000000e-06
GCST001709_15	Atopic dermatitis	2.000000e-07
GCST002562_3	Vogt-Koyanagi-Harada syndrome	3.000000e-11
GCST003814_9	Selective IgA deficiency	7.000000e-07
GCST004866_33	Alopecia areata	9.000000e-06
GCST007324_47	Adventurousness	4.000000e-08
GCST008074_110	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-16
GCST008074_13	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-06
GCST008074_44	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-24
GCST008076_32	Triglyceride levels	1.000000e-12
GCST008076_68	Triglyceride levels	2.000000e-07
GCST008078_138	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-08
GCST008078_47	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-06
GCST008079_134	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-06
GCST008083_153	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-17
GCST008083_74	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-10
GCST008083_78	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-29
GCST008084_179	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-06
GCST008087_135	Triglyceride levels in current drinkers	1.000000e-08
GCST008087_54	Triglyceride levels in current drinkers	1.000000e-06
GCST008087_83	Triglyceride levels in current drinkers	5.000000e-16
GCST011494_53	Daytime nap	2.000000e-17
GCST90002381_279	Eosinophil count	4.000000e-24
GCST90002382_189	Eosinophil percentage of white cells	4.000000e-14
GCST90002394_344	Monocyte percentage of white cells	2.000000e-15
GCST90020028_44	Hip circumference adjusted for BMI	1.000000e-09

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004825	temperament and character inventory
EFO:0008579	risk-taking behaviour
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007828	daytime rest measurement
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007989	monocyte percentage of leukocytes
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (3)

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
C537985	Charcot-Marie-Tooth disease, Type 1D (supp.)
C535301	Charcot-Marie-Tooth disease, Type 4E (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	6
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	5
Tetrachlorodibenzodioxin	affects expression, affects methylation, decreases expression, increases expression	5
Aflatoxin B1	increases expression, affects expression	5
Tretinoin	affects cotreatment, decreases expression, increases expression	4
sodium arsenite	decreases expression, increases expression	3
Estradiol	decreases expression, affects binding, increases expression, affects cotreatment	3
Cyclosporine	increases expression	3
trichostatin A	affects expression, decreases expression, increases expression	2
Arsenic Trioxide	decreases expression, decreases reaction	2
Cadmium	decreases expression, increases abundance, increases expression	2
Formaldehyde	affects binding, decreases reaction, increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Silver	increases expression	2
Tetradecanoylphorbol Acetate	affects cotreatment, decreases reaction, increases expression	2
Tobacco Smoke Pollution	increases expression, affects expression	2
8-Bromo Cyclic Adenosine Monophosphate	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	decreases expression, affects cotreatment	1
bisphenol A	affects cotreatment, decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tributyltin	increases expression	1
quercitrin	increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1F7	SEES3-1V human EGR2, clone1	Embryonic stem cell	Male
CVCL_A1F8	SEES3-1V human EGR2, clone2	Embryonic stem cell	Male
CVCL_A1F9	SEES3-1V human EGR2, clone3	Embryonic stem cell	Male
CVCL_HC73	HEK293 eGFP-EGR2	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
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
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease
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
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls