NEB

Summary

NEB (nebulin, HGNC:7720) is a protein-coding gene on chromosome 2q23.3, encoding Nebulin (P20929). This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils.

This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy.

Source: NCBI Gene 4703 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nemaline myopathy 2 (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 15
• Clinical variants (ClinVar): 12,232 total — 579 pathogenic, 988 likely-pathogenic
• Phenotypes (HPO): 134
• MANE Select transcript: NM_001164508

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7720
Approved symbol	NEB
Name	nebulin
Location	2q23.3
Locus type	gene with protein product
Status	Approved
Aliases	NEB177D
Ensembl gene	ENSG00000183091
Ensembl biotype	protein_coding
OMIM	161650
Entrez	4703

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 11 protein_coding, 9 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000397337, ENST00000397345, ENST00000409198, ENST00000413693, ENST00000421461, ENST00000424585, ENST00000427231, ENST00000434685, ENST00000480784, ENST00000483418, ENST00000484968, ENST00000486320, ENST00000489048, ENST00000497809, ENST00000498015, ENST00000688161, ENST00000688578, ENST00000689642, ENST00000690043, ENST00000693000, ENST00000693286

RefSeq mRNA: 4 — MANE Select: NM_001164508 NM_001164507, NM_001164508, NM_001271208, NM_004543

CCDS: CCDS46424, CCDS54407, CCDS54408

Canonical transcript exons

ENST00000397345 — 182 exons

Exon	Start	End
ENSE00001399902	151561004	151561108
ENSE00001401097	151562110	151562214
ENSE00001402823	151565044	151565148
ENSE00001403427	151563823	151563930
ENSE00001404007	151563606	151563719
ENSE00001404589	151562611	151562808
ENSE00001413260	151570081	151570392
ENSE00001413492	151569268	151569372
ENSE00001414520	151570497	151570601
ENSE00001421665	151565501	151565605
ENSE00001423503	151565716	151565820
ENSE00001426941	151567168	151567479
ENSE00001427528	151568071	151568178
ENSE00001429936	151568618	151568716
ENSE00001431119	151568316	151568417
ENSE00001431274	151733712	151733795
ENSE00001433688	151561208	151561312
ENSE00001528243	151501391	151501483
ENSE00001593274	151529210	151529314
ENSE00001594538	151508005	151508109
ENSE00001603214	151491683	151491775
ENSE00001613331	151549636	151549740
ENSE00001615107	151492098	151492281
ENSE00001615203	151526918	151527022
ENSE00001616427	151514818	151514928
ENSE00001618217	151526158	151526262
ENSE00001620884	151547634	151547738
ENSE00001629322	151541447	151541551
ENSE00001630299	151525958	151526068
ENSE00001636699	151524311	151524415
ENSE00001638504	151512733	151512837
ENSE00001649708	151527481	151527585
ENSE00001651075	151537872	151537976
ENSE00001658406	151547429	151547533
ENSE00001662638	151552672	151552776
ENSE00001666728	151535691	151535795
ENSE00001676624	151554931	151555044
ENSE00001687639	151514318	151514428
ENSE00001693713	151519658	151519768
ENSE00001695544	151548308	151548415
ENSE00001710069	151546345	151546443
ENSE00001713292	151533442	151533546
ENSE00001714938	151524515	151524616
ENSE00001727473	151553398	151553502
ENSE00001734324	151485339	151485933
ENSE00001739237	151537132	151537236
ENSE00001745106	151525163	151525273
ENSE00001750691	151489971	151490077
ENSE00001753631	151490372	151490518
ENSE00001754822	151551738	151551845
ENSE00001755944	151540344	151540448
ENSE00001756367	151553828	151554025
ENSE00001758298	151506909	151507013
ENSE00001764641	151540697	151540801
ENSE00001767374	151530994	151531101
ENSE00001778582	151538140	151538244
ENSE00001779064	151545888	151545998
ENSE00001783273	151513580	151513693
ENSE00001800943	151531792	151531896
ENSE00002323492	151560592	151560699
ENSE00002430062	151706881	151706997
ENSE00002430084	151602587	151602691
ENSE00002430982	151610516	151610623
ENSE00002431639	151679918	151680022
ENSE00002432306	151498260	151498352
ENSE00002433119	151618275	151618478
ENSE00002436063	151682662	151682769
ENSE00002437143	151597927	151598130
ENSE00002437177	151576151	151576354
ENSE00002438084	151586405	151586509
ENSE00002439921	151608473	151608676
ENSE00002440166	151583455	151583766
ENSE00002440834	151601901	151602008
ENSE00002440979	151612186	151612389
ENSE00002442702	151664501	151664608
ENSE00002442736	151675287	151675391
ENSE00002443515	151630715	151630819
ENSE00002448258	151631143	151631346
ENSE00002449031	151680730	151680828
ENSE00002449810	151596958	151597062
ENSE00002453164	151650574	151650885
ENSE00002453363	151496276	151496368
ENSE00002453624	151724260	151724364
ENSE00002454659	151662135	151662341
ENSE00002457527	151620919	151621026
ENSE00002458707	151665333	151665539
ENSE00002460664	151684778	151684975
ENSE00002461078	151585507	151585614
ENSE00002462221	151496941	151497033
ENSE00002463682	151657983	151658090
ENSE00002463720	151636227	151636334
ENSE00002464616	151650176	151650379
ENSE00002465145	151643818	151644129
ENSE00002465675	151690727	151690825
ENSE00002466895	151625534	151625638
ENSE00002468013	151663548	151663859
ENSE00002468323	151717416	151717520
ENSE00002468863	151677876	151678187
ENSE00002471876	151606606	151606713
ENSE00002472034	151677565	151677771
ENSE00002472538	151582464	151582667
ENSE00002472925	151596060	151596167
ENSE00002476314	151609809	151610120
ENSE00002477546	151646130	151646234
ENSE00002479972	151497626	151497718
ENSE00002480065	151591348	151591455
ENSE00002480629	151503349	151503441
ENSE00002480755	151639280	151639384
ENSE00002481534	151593016	151593219
ENSE00002481553	151729615	151729656
ENSE00002485687	151724857	151724961
ENSE00002485930	151493775	151493867
ENSE00002486999	151666090	151666401
ENSE00002487456	151616002	151616109
ENSE00002487938	151607504	151607608
ENSE00002489547	151725453	151725560
ENSE00002491814	151644468	151644575
ENSE00002492103	151655270	151655374
ENSE00002493931	151575695	151575799
ENSE00002494111	151664759	151664863
ENSE00002495813	151581483	151581587
ENSE00002498211	151600442	151600753
ENSE00002499069	151629539	151629646
ENSE00002500491	151614276	151614587
ENSE00002501533	151580797	151580904
ENSE00002506251	151627523	151627834
ENSE00002506302	151627002	151627205
ENSE00002506651	151494161	151494253
ENSE00002506987	151727691	151727906
ENSE00002507024	151640355	151640666
ENSE00002507900	151592034	151592138
ENSE00002509371	151709656	151709763
ENSE00002510197	151642765	151642869
ENSE00002513765	151499298	151499390
ENSE00002513996	151671023	151671229
ENSE00002514868	151679721	151679828
ENSE00002516675	151610762	151610866
ENSE00002518197	151587374	151587577
ENSE00002519256	151643150	151643353
ENSE00002519576	151655817	151656023
ENSE00002520154	151619451	151619762
ENSE00002520645	151617364	151617468
ENSE00002520800	151603569	151603772
ENSE00002521498	151639857	151640060
ENSE00002521674	151659065	151659169
ENSE00002521779	151710434	151710538
ENSE00002523372	151642574	151642681
ENSE00002525527	151723382	151723486
ENSE00002527044	151633654	151633965
ENSE00002527079	151589889	151590200
ENSE00002528325	151674477	151674584
ENSE00002528341	151656153	151656464
ENSE00002530384	151672369	151672680
ENSE00002532303	151687419	151687532
ENSE00002532571	151604560	151604871
ENSE00002532812	151687626	151687733
ENSE00002533814	151688292	151688396
ENSE00002534390	151667804	151667911
ENSE00002536045	151579338	151579649
ENSE00002536070	151653992	151654099
ENSE00002536376	151594007	151594318
ENSE00002723629	151733121	151733185
ENSE00003466674	151516459	151516563
ENSE00003473988	151518318	151518422
ENSE00003478309	151697350	151697457
ENSE00003489162	151697148	151697252
ENSE00003501252	151691864	151691968
ENSE00003518652	151518965	151519069
ENSE00003530285	151697544	151697648
ENSE00003532106	151502793	151502885
ENSE00003540492	151492387	151492494
ENSE00003541978	151669027	151669131
ENSE00003560617	151505478	151505570
ENSE00003588461	151694522	151694629
ENSE00003593128	151694323	151694436
ENSE00003638530	151692059	151692166
ENSE00003652644	151696637	151696735
ENSE00003653190	151506166	151506258
ENSE00003661074	151692261	151692362
ENSE00003681727	151695578	151695682
ENSE00003786655	151493353	151493445
ENSE00003913083	151734398	151734476

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 99.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 15.6044 / max 7207.5524, expressed in 163 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31290	13.2993	115
31289	1.6179	44
31263	0.1221	19
31223	0.1070	35
31259	0.0959	21
31258	0.0427	14
31150	0.0426	12
31262	0.0399	13
31286	0.0388	12
31224	0.0317	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gluteal muscle	UBERON:0002000	99.95	gold quality
tibialis anterior	UBERON:0001385	99.94	gold quality
biceps brachii	UBERON:0001507	99.94	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.93	gold quality
gastrocnemius	UBERON:0001388	99.92	gold quality
deltoid	UBERON:0001476	99.92	gold quality
skeletal muscle tissue	UBERON:0001134	99.91	gold quality
quadriceps femoris	UBERON:0001377	99.91	gold quality
vastus lateralis	UBERON:0001379	99.91	gold quality
triceps brachii	UBERON:0001509	99.91	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.88	gold quality
body of tongue	UBERON:0011876	99.87	gold quality
diaphragm	UBERON:0001103	99.84	gold quality
muscle organ	UBERON:0001630	99.50	gold quality
muscle of leg	UBERON:0001383	99.34	gold quality
muscle tissue	UBERON:0002385	96.11	gold quality
right atrium auricular region	UBERON:0006631	92.58	gold quality
cardiac atrium	UBERON:0002081	92.32	gold quality
tongue	UBERON:0001723	91.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.09	gold quality
pharyngeal mucosa	UBERON:0000355	88.83	gold quality
gall bladder	UBERON:0002110	84.76	gold quality
superior surface of tongue	UBERON:0007371	84.57	gold quality
apex of heart	UBERON:0002098	82.30	gold quality
minor salivary gland	UBERON:0001830	81.98	gold quality
calcaneal tendon	UBERON:0003701	81.76	gold quality
right adrenal gland cortex	UBERON:0035827	79.78	gold quality
right lobe of thyroid gland	UBERON:0001119	79.73	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	6384.12
E-MTAB-11268	yes	641.55
E-CURD-114	yes	12.47
E-GEOD-124858	no	12.39
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting NEB, 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-5692A	100.00	74.40	6850
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-6728-3P	98.63	67.63	1534

Literature-anchored findings (GeneRIF, showing 39)

• Nebulin is thought to serve as both a length-regulating protein ruler and calcium/calmodulin-mediated regulatory protein on the thin filaments of the skeletal muscle sarcomere. (PMID:11425319)
• SH3 domain of nebulin binds selectively to type II peptides: theoretical prediction and experimental validation (PMID:11851340)
• Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. (PMID:11994971)
• nebulin colocalizes with desmin in a Z-line-associated, striated pattern, thereby forming a lateral linkage system which contributes to maintain adjacent Z-lines in register as shown by immunofluorescence studies (PMID:12064939)
• Mutations caused absence of the C-terminal part of nebulin resulting in severe congenital form of nemaline myopathy. (PMID:12207937)
• Nebulin is targeted and oriented through titin and myopalladin signaling during sarcomere assembly (PMID:12482578)
• 45 novel mutations within the nubulin gene are associated with nemaline myopathy. (PMID:16917880)
• These data suggest that N-terminal superrepeat nebulin modules are incapable of supporting interactions with the cardiac myofilaments; whereas the C-terminal nebulin modules can. (PMID:17275809)
• These data suggest a model in which archvillin attaches directly to the Z-line of skeletal muscle through an interaction with the nebulin C-terminus. (PMID:18639526)
• In all but two of eight homozygous patients with nebulin mutations, the clinical picture was more severe than in typical nemaline myopathy. (PMID:19232495)
• Data revealed markedly reduced nebulin protein levels in muscle from nemaline myopathy patients, whereas levels of other thin filament-based proteins were not significantly altered. (PMID:19944167)
• Nebulin regulates thin filament architecture by a mechanism that includes stabilizing the filaments and preventing actin depolymerization. (PMID:20498015)
• The mechanics as well as the X-ray diffraction patterns of human membrane-permeabilized single muscle fibers expressing nebulin mutations are reported. (PMID:21350120)
• distal nemaline myopathy caused by four different compound heterozygous nebulin mutations (PMID:21724397)
• Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for nemaline. (PMID:22367672)
• Multiple isoforms of nebulin expressed in skeletal muscle and brain may have a role as actin filament stabilizer or length regulator in neurons of the human brain (PMID:22941678)
• Data suggest that for some filament-forming desmin mutants, the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin, a major actin-binding filament protein of striated muscle. (PMID:23615443)
• A nebulin-based nemaline myopathy model is characterized in transgenic mice following deletion of exon 55 in nebulin. (PMID:23715096)
• We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2 (PMID:23985323)
• This study demonistrated that Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity. (PMID:24725366)
• Mutations in NEB gene is associated with stress fracture. (PMID:25023003)
• indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders (PMID:25205138)
• Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes, it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described. (PMID:25296583)
• Identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy. (PMID:25740301)
• recurrent NEB TRI copy number variation was found in 13% of the families with nemaline myopathy and in 10% of the controls. (PMID:26197980)
• Prominent foot-drop was associated with NEB gene mutations in three patients with core-rod myopathy. (PMID:26403434)
• Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy, but only in those who harbor specific mutations in NEB or ACTA1. (PMID:27074222)
• New NEB mutations were found in 8 of 10 patients with nemaline myopathy. (PMID:27105866)
• NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases. (PMID:27933661)
• We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene. (PMID:28391287)
• nebulin containing exon 144 is the default isoform early in myogenesis, while regulated expression of nebulin containing exon 143 occurs at later stages of muscle development (PMID:30356055)
• Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process. (PMID:30517146)
• A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. (PMID:31696431)
• An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. (PMID:32062132)
• Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. (PMID:32222963)
• Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice. (PMID:32390000)
• Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study. (PMID:33674626)
• Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. (PMID:38520674)
• Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. (PMID:38634969)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	neb	ENSDARG00000032630
mus_musculus	Neb	ENSMUSG00000026950
rattus_norvegicus	Neb	ENSRNOG00000006783
drosophila_melanogaster	Hil	FBGN0050147
caenorhabditis_elegans		WBGENE00003089

Paralogs (4): LASP1 (ENSG00000002834), NEBL (ENSG00000078114), KY (ENSG00000174611), NRAP (ENSG00000197893)

Protein

Protein identifiers

Nebulin — P20929 (reviewed: P20929)

All UniProt accessions (9): P20929, A0A8I5KS37, A0A8I5KYD3, A0A8I5QJN4, H0Y3P5, H0Y786, H7BZD5, H7C2B3, H7C2Z5

UniProt curated annotations — full annotation on UniProt →

Function. This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

Subunit / interactions. Monomer and homooligomer. Interacts with TTN/titin. Interacts with SVIL. Interacts (via nebulin repeats 160-164) with DES.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. Cytoskeleton.

Tissue specificity. Expressed in skeletal muscle (at protein level). Located in the thin filament of striated muscle.

Disease relevance. Nemaline myopathy 2 (NEM2) [MIM:256030] A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. The disease is caused by variants affecting the gene represented in this entry. Arthrogryposis multiplex congenita 6 (AMC6) [MIM:619334] A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (4)

UniProt ID	Names	Canonical?
P20929-2	2	yes
P20929-1	1
P20929-3	3
P20929-4	4

RefSeq proteins (4): NP_001157979, NP_001157980, NP_001258137, NP_004534 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000900	Nebulin_repeat	Repeat
IPR001452	SH3_domain	Domain
IPR013998	Nebulin-like	Family
IPR035629	Nebulin_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR055297	NEBU/NEBL	Family

Pfam: PF00880, PF14604

UniProt features (294 total): repeat 235, sequence variant 25, sequence conflict 13, splice variant 5, strand 5, region of interest 4, compositionally biased region 3, chain 1, domain 1, turn 1, helix 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6Y17	X-RAY DIFFRACTION	1.56
1ARK	SOLUTION NMR
1NEB	SOLUTION NMR

Predicted structure (AlphaFold)

No AlphaFold model available for P20929 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 448 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_MUSCLE_TISSUE_DEVELOPMENT, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_CARDIAC_MYOFIBRIL_ASSEMBLY, MODULE_329, CAGCTG_AP4_Q5, MORF_RAD51L3, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GHO_ATF5_TARGETS_UP, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MODULE_202, MORF_CTSB

GO Biological Process (4): muscle organ development (GO:0007517), somatic muscle development (GO:0007525), regulation of actin filament length (GO:0030832), cardiac muscle thin filament assembly (GO:0071691)

GO Molecular Function (4): structural constituent of muscle (GO:0008307), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (9): cytosol (GO:0005829), actin cytoskeleton (GO:0015629), Z disc (GO:0030018), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), myofibril (GO:0030016), sarcomere (GO:0030017), contractile muscle fiber (GO:0043292)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
muscle structure development	2
cytoplasm	2
intracellular membraneless organelle	2
animal organ development	1
regulation of cellular component size	1
regulation of actin cytoskeleton organization	1
actin filament organization	1
cardiac myofibril assembly	1
structural molecule activity	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
cytoskeleton	1
I band	1
extracellular vesicle	1
intracellular anatomical structure	1
contractile muscle fiber	1
myofibril	1
supramolecular fiber	1

Protein interactions and networks

STRING

1100 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NEB	TTN	Q8WZ42	993
NEB	MYPN	Q86TC9	979
NEB	TMOD2	Q9NZR1	934
NEB	TMOD4	Q9NZQ9	931
NEB	TMOD1	P28289	920
NEB	TMOD3	Q9NYL9	917
NEB	WASL	O00401	878
NEB	CAPZA2	P47755	875
NEB	CAPZA1	P52907	872
NEB	KBTBD13	C9JR72	862
NEB	TRIM63	Q969Q1	850
NEB	OBSCN	Q5VST9	840
NEB	DMD	P11532	829
NEB	MYBPC3	Q14896	806
NEB	KLHL41	O60662	784

IntAct

187 interactions, top by confidence:

A	B	Type	Score
MAPK14	OBSL1	psi-mi:“MI:0914”(association)	0.790
TTN	NEB	psi-mi:“MI:0407”(direct interaction)	0.750
TTN	NEB	psi-mi:“MI:0915”(physical association)	0.750
SOS1	NEB	psi-mi:“MI:0407”(direct interaction)	0.620
XIRP2	NEB	psi-mi:“MI:0915”(physical association)	0.600
XIRP2	NEB	psi-mi:“MI:0407”(direct interaction)	0.600
NEB	XIRP2	psi-mi:“MI:0407”(direct interaction)	0.600
NEB	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.590
NEB	SVIL	psi-mi:“MI:0915”(physical association)	0.540
SVIL	NEB	psi-mi:“MI:0915”(physical association)	0.540
NEB	SVIL	psi-mi:“MI:0403”(colocalization)	0.540
PRKAB2	STBD1	psi-mi:“MI:0914”(association)	0.530
XIRP1	NEB	psi-mi:“MI:0915”(physical association)	0.530
XIRP1	NEB	psi-mi:“MI:0407”(direct interaction)	0.530
KLHL41	NEB	psi-mi:“MI:0915”(physical association)	0.520
KLHL41	NEB	psi-mi:“MI:2364”(proximity)	0.520
NEB	KLHL41	psi-mi:“MI:2364”(proximity)	0.520
NEB	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.440
NEB	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
NEB	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
NEB	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
NEB	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	NEB	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (115): NEB (Two-hybrid), NEB (Two-hybrid), MYPN (Two-hybrid), NEB (Reconstituted Complex), TPM1 (Reconstituted Complex), TPM2 (Reconstituted Complex), NEB (Affinity Capture-MS), NEB (Affinity Capture-MS), NEB (Affinity Capture-MS), NEB (Affinity Capture-MS), NEB (Protein-RNA), NEB (FRET), NEB (Two-hybrid), NEB (Affinity Capture-Western), TMOD1 (Reconstituted Complex)

ESM2 similar proteins: A0A0D1CKI0, A0A0D1DPX0, A0A0H3K686, A0A2H4S6M4, A0A2Z4HPY9, A0A6B9KZ90, A1DA48, A2QBQ3, A6ZQH3, A6ZZG0, A6ZZG1, B2CJ57, B3LPW4, B3LQU0, B3LQU1, C0HL89, D2K835, G1UB63, J4KLP6, J4WMI6, O24006, O42721, P01149, P02976, P05222, P05223, P05224, P07386, P0A015, P15217, P20929, P25501, P29002, P29004, P32478, P38507, P81592, P84331, P99134, Q01301

Diamond homologs: A3LXQ8, A6H7G2, A6ZR73, A7MBI0, B3LRN4, B5VHP4, B8R1V5, C4Y1G1, C7GKW5, E7KBW4, E7KMS3, E7LTJ6, E7Q311, E7QE10, G5EC32, O13154, O35179, O35180, O42287, O60861, O74749, O75886, O76041, O77506, O88811, P08487, P10569, P10686, P14317, P18302, P19174, P20929, P34121, P34416, P40073, P49710, P70297, Q01406, Q07266, Q09822

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GSK3B	down-regulates	NEB	phosphorylation
NEB	up-regulates	WASL	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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
Ras activation upon Ca2+ influx through NMDA receptor	5	32.1×	6e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	30.6×	6e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	30.6×	6e-05
Long-term potentiation	5	26.7×	9e-05
Assembly and cell surface presentation of NMDA receptors	9	25.7×	2e-08
Neurexins and neuroligins	10	22.1×	1e-08
Protein-protein interactions at synapses	6	17.9×	9e-05
RND3 GTPase cycle	5	14.6×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	52.8×	5e-14
protein localization to synapse	6	38.0×	1e-06
receptor clustering	7	36.1×	2e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	7	28.7×	8e-07
bicellular tight junction assembly	5	13.7×	2e-03
protein-containing complex assembly	11	10.3×	1e-06
Rho protein signal transduction	5	10.2×	5e-03
cell-cell adhesion	10	8.4×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

12232 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	579
Likely pathogenic	988
Uncertain significance	3267
Likely benign	5718
Benign	256

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1027398	NM_001164508.2(NEB):c.24766-1G>C	Pathogenic
1030244	NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter)	Pathogenic
1031200	NM_001164508.2(NEB):c.5388T>A (p.Tyr1796Ter)	Pathogenic
1068585	NM_001164508.2(NEB):c.12074del (p.Ser4025fs)	Pathogenic
1068855	NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer)	Pathogenic
1069231	NM_001164508.2(NEB):c.8386del (p.Glu2796fs)	Pathogenic
1069433	NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter)	Pathogenic
1069477	NC_000002.11:g.(?152524298)(152525665_?)del	Pathogenic
1070695	NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter)	Pathogenic
1070706	NM_001164508.2(NEB):c.611del (p.Lys204fs)	Pathogenic
1071128	NM_001164508.2(NEB):c.63del (p.Glu22fs)	Pathogenic
1071130	NM_001164508.2(NEB):c.6639del (p.Phe2213fs)	Pathogenic
1071142	NM_001164508.2(NEB):c.12736del (p.Ile4246fs)	Pathogenic
1071337	NM_001164508.2(NEB):c.288del (p.Phe96fs)	Pathogenic
1071349	NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter)	Pathogenic
1071472	NM_001164508.2(NEB):c.19915del (p.Ala6639fs)	Pathogenic
1071473	NM_001164508.2(NEB):c.175C>T (p.Gln59Ter)	Pathogenic
1071818	NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs)	Pathogenic
1071929	NM_001164508.2(NEB):c.13417del (p.Leu4473fs)	Pathogenic
1072056	NM_001164508.2(NEB):c.23505del (p.Asp7836fs)	Pathogenic
1072267	NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)	Pathogenic
1072753	NM_001164508.2(NEB):c.21628_21630+2del	Pathogenic
1073161	NM_001164508.2(NEB):c.3731del (p.Pro1244fs)	Pathogenic
1073258	NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs)	Pathogenic
1073398	NM_001164508.2(NEB):c.20446dup (p.Arg6816fs)	Pathogenic
1073501	NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer)	Pathogenic
1073729	NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs)	Pathogenic
1073754	NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)	Pathogenic
1073868	NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter)	Pathogenic
1073910	NM_001164508.2(NEB):c.5959dup (p.Ile1987fs)	Pathogenic

SpliceAI

19230 predictions. Top by Δscore:

Variant	Effect	Δscore
2:151485929:ATTTT:A	acceptor_gain	1.0000
2:151485930:TTTT:T	acceptor_gain	1.0000
2:151485931:TTT:T	acceptor_gain	1.0000
2:151485931:TTTC:T	acceptor_loss	1.0000
2:151485932:TT:T	acceptor_gain	1.0000
2:151485934:C:A	acceptor_loss	1.0000
2:151485934:C:CC	acceptor_gain	1.0000
2:151485935:T:C	acceptor_loss	1.0000
2:151485939:CG:C	acceptor_gain	1.0000
2:151485940:G:C	acceptor_gain	1.0000
2:151485940:G:GC	acceptor_gain	1.0000
2:151485946:A:AC	acceptor_gain	1.0000
2:151485946:A:C	acceptor_gain	1.0000
2:151489969:A:AC	donor_gain	1.0000
2:151489969:ACT:A	donor_gain	1.0000
2:151489969:ACTC:A	donor_gain	1.0000
2:151489970:C:CA	donor_gain	1.0000
2:151489970:CT:C	donor_gain	1.0000
2:151489970:CTC:C	donor_gain	1.0000
2:151489970:CTCC:C	donor_gain	1.0000
2:151489970:CTCCA:C	donor_gain	1.0000
2:151490074:TAAG:T	acceptor_gain	1.0000
2:151490077:GCTGA:G	acceptor_loss	1.0000
2:151490078:C:CC	acceptor_gain	1.0000
2:151492093:GTTAC:G	donor_loss	1.0000
2:151492094:TTAC:T	donor_loss	1.0000
2:151492095:TAC:T	donor_loss	1.0000
2:151492097:C:CT	donor_loss	1.0000
2:151492152:T:A	donor_gain	1.0000
2:151493356:G:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000004138 (2:151609105 G>A,C), RS1000013912 (2:151717725 A>C,G), RS1000023057 (2:151670391 A>G), RS1000026044 (2:151563064 G>A), RS1000036888 (2:151607007 A>G), RS1000044498 (2:151536790 T>C), RS1000050080 (2:151529885 T>A,C), RS1000080504 (2:151676762 C>T), RS1000093799 (2:151530081 G>T), RS1000094820 (2:151668989 C>A,T), RS1000107124 (2:151522961 T>G), RS1000108046 (2:151570314 G>A,T), RS1000115727 (2:151654497 G>A), RS1000115985 (2:151510145 C>T), RS1000116936 (2:151577081 G>A)

Disease associations

OMIM: gene MIM:161650 | disease phenotypes: MIM:256030, MIM:619334, MIM:236750, MIM:117000, MIM:161800, MIM:160500

GenCC curated gene-disease

Disease	Classification	Inheritance
nemaline myopathy 2	Definitive	Autosomal recessive
severe congenital nemaline myopathy	Supportive	Autosomal recessive
intermediate nemaline myopathy	Supportive	Autosomal dominant
typical nemaline myopathy	Supportive	Autosomal dominant
childhood-onset nemaline myopathy	Supportive	Autosomal dominant
lethal multiple pterygium syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
nemaline myopathy 2	Definitive	AR
autosomal dominant nebulin-related myopathy	Moderate	AD

Mondo (18): nemaline myopathy 2 (MONDO:0009725), arthrogryposis multiplex congenita 6 (MONDO:0030281), nemaline myopathy (MONDO:0018958), nebulin-related early-onset distal myopathy (MONDO:0018371), non-immune hydrops fetalis (MONDO:0009369), congenital muscular dystrophy (MONDO:0019950), congenital myopathy (MONDO:0019952), limb-girdle muscular dystrophy (MONDO:0016971), congenital structural myopathy (MONDO:0002921), muscular dystrophy (MONDO:0020121), peripheral neuropathy (MONDO:0005244), congenital myopathy 2a, typical, autosomal dominant (MONDO:0008070), distal myopathy (MONDO:0018949), severe congenital nemaline myopathy (MONDO:0015735), intermediate nemaline myopathy (MONDO:0015736)

Orphanet (9): Nemaline myopathy (Orphanet:607), Autosomal recessive distal nebulin myopathy (Orphanet:399103), Non-immune hydrops fetalis (Orphanet:363999), Congenital muscular dystrophy (Orphanet:97242), Congenital myopathy (Orphanet:97245), Limb-girdle muscular dystrophy (Orphanet:263), Muscular dystrophy (Orphanet:98473), Congenital myopathy with excess of thin filaments (Orphanet:98904), Distal myopathy (Orphanet:599)

HPO phenotypes

134 total (30 of 134 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000239	Large fontanelles
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000467	Neck muscle weakness
HP:0000470	Short neck
HP:0000478	Abnormality of the eye
HP:0000508	Ptosis
HP:0000602	Ophthalmoplegia
HP:0000765	Abnormal thorax morphology
HP:0000767	Pectus excavatum
HP:0000774	Narrow chest
HP:0000775	Abnormality of the diaphragm
HP:0000883	Thin ribs
HP:0001181	Adducted thumb
HP:0001188	Hand clenching
HP:0001260	Dysarthria
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001283	Bulbar palsy
HP:0001284	Areflexia

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST003469_11	Response to cognitive-behavioural therapy in anxiety disorder	4.000000e-06
GCST003501_10	Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time)	4.000000e-06
GCST004750_99	Squamous cell lung carcinoma	1.000000e-06
GCST006014_5	Creatine kinase levels	6.000000e-13
GCST007470_2	Rapid automatized naming of letters	8.000000e-06
GCST008058_140	Estimated glomerular filtration rate	6.000000e-15
GCST008059_180	Estimated glomerular filtration rate	9.000000e-13
GCST008747_27	Estimated glomerular filtration rate	1.000000e-07
GCST008747_36	Estimated glomerular filtration rate	3.000000e-06
GCST009311_2	Letter-number span reordering	5.000000e-06
GCST012217_1	Skeletal muscle index	9.000000e-09
GCST90002390_378	Mean corpuscular hemoglobin	2.000000e-13
GCST90002392_219	Mean corpuscular volume	6.000000e-16
GCST90002396_222	Mean reticulocyte volume	1.000000e-18
GCST90002397_818	Mean spheric corpuscular volume	6.000000e-18

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy
EFO:1001507	asparaginase-induced acute pancreatitis
EFO:0004534	creatine kinase measurement
EFO:0005301	reading and spelling ability
EFO:0004874	memory performance
EFO:0004515	muscle measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D009136	Muscular Dystrophies	C05.651.534.500; C10.668.491.175.500; C16.320.577
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
D017696	Myopathies, Nemaline	C05.651.575.290; C10.668.491.550.290
D020914	Myopathies, Structural, Congenital	C05.651.575; C10.668.491.550
C579880	Actin-Accumulation Myopathy (supp.)
C580202	Intranuclear Rod Myopathy (supp.)
C538349	Nemaline Myopathy 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
Quercetin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
senecionine	decreases expression	1
senkirkine	decreases expression	1
heliotrine	decreases expression	1
sodium arsenite	affects methylation	1
butyraldehyde	decreases expression	1
N-acetyl-4-benzoquinoneimine	affects response to substance	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression	1
Aldehydes	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	decreases phosphorylation	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Endosulfan	increases expression	1
Estradiol	decreases expression	1

Cellosaurus cell lines

26 cell lines: 17 transformed cell line, 5 finite cell line, 3 induced pluripotent stem cell, 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A2VF	GM26114	Transformed cell line	Male
CVCL_A2WB	GM26181	Transformed cell line	Female
CVCL_A2WI	GM26264	Transformed cell line	Male
CVCL_B886	GENEA078	Embryonic stem cell	Female
CVCL_D3AJ	GM29112	Induced pluripotent stem cell	Male
CVCL_F0Z8	GM29375	Induced pluripotent stem cell	Male
CVCL_HK54	GM24523	Transformed cell line	Female
CVCL_HK56	GM25151	Transformed cell line	Female
CVCL_HK57	GM25160	Transformed cell line	Female
CVCL_HK58	GM25161	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01422200	PHASE4	COMPLETED	Flu Vaccine Study in Neuromuscular Patients 2011
NCT01882400	PHASE4	COMPLETED	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT00380965	PHASE4	COMPLETED	Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy
NCT00487981	PHASE4	TERMINATED	Spinal Cord Stimulation for Painful Diabetic Neuropathy
NCT00904202	PHASE4	COMPLETED	A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions
NCT01192113	PHASE4	COMPLETED	Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109)
NCT01373983	PHASE4	COMPLETED	Intrathecal Bolus Doses of Ziconotide
NCT01458015	PHASE4	TERMINATED	Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain
NCT02074267	PHASE4	COMPLETED	Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain
NCT02372149	PHASE4	UNKNOWN	IVIg for Demyelination in Diabetes Mellitus
NCT02670161	PHASE4	ENROLLING_BY_INVITATION	Quality Improvement and Practice Based Research in Neurology Using the EMR
NCT07022938	PHASE4	COMPLETED	Nutritional Supplement for Treating Chemotherapy Induced Neuropathy
NCT07025005	PHASE4	RECRUITING	Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM)
NCT03783923	PHASE3	TERMINATED	A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
NCT06246513	PHASE3	ACTIVE_NOT_RECRUITING	A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4
NCT01254019	PHASE3	COMPLETED	A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01480245	PHASE3	TERMINATED	Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01803412	PHASE3	TERMINATED	A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
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