NEB - nebulin Gene

Also Known as AMC6; NEM2; NEB177D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4703

About NEB

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:151,485,339-151,734,476 (from NCBI)

This gene has 21 transcripts (splice variants), 244 orthologues, 4 paralogues and is associated with 9 phenotypes. Biased expression in prostate (RPKM 10.5), esophagus (RPKM 3.3) and 4 other tissues.

Summary

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. [provided by RefSeq, Sep 2009]

NEB Products (4)

mRNA	Protein	Name
NM_001164507.2	NP_001157979.2	nebulin isoform 1
NM_001164508.2	NP_001157980.2	nebulin isoform 2
NM_001271208.2	NP_001258137.2	nebulin isoform 4
NM_004543.5	NP_004534.3	nebulin isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12482578	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	9501083	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEB Protein Structure

Nebulin

SH3_9

0
1100
2200
3300
4400
5500
6669 a.a.

Protein Preferred Names	Protein Names
nebulin	nemaline myopathy type 2

NEB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NEB	P20929	DYSF	Homo sapiens	O75923	Confocal	23414517
Intra	NEB	P20929	DYSF	Homo sapiens	O75923	PLA	23414517
Intra	NEB	P20929	SVIL	Homo sapiens	O95425	Y2H	18639526
Intra	NEB	P20929	SVIL	Homo sapiens	O95425	IF	18639526
Intra	NEB	P20929	SVIL	Homo sapiens	O95425	Pull Down	18639526
Intra	NEB	P20929	KLHL41	Homo sapiens	O60662	PLA	23414517

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
Arthrogryposis Multiplex Congenita 6	AMC6 Arthrogryposis Multiplex Congenita-6
Nemaline Myopathy	Rod Myopathy Nemaline Body Disease Nemaline Rod Myopathy Myopathies, Nemaline Nm Nemaline Rod Disease Rod Body Disease Rod-Body Myopathy Myopathy, Nemaline Congenital Rod Disease Nem Nemaline Bodies Myopathies Nemaline
Distal Nebulin Myopathy	Nebulin-Related Early-Onset Distal Myopathy
Intermediate Congenital Nemaline Myopathy	Intermediate Nemaline Myopathy Intermediate Congenital Nm
Typical Congenital Nemaline Myopathy	Typical Nemaline Myopathy
Severe Congenital Nemaline Myopathy	Severe Congenital Nm
Childhood-Onset Nemaline Myopathy	Mild Nemaline Myopathy Nemaline Myopathy, Childhood Onset
Multiple Pterygium Syndrome, Lethal Type	LMPS Lethal Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Lethal Type Multiple Pterygium Syndrome Lethal Type Pterygium Syndrome Multiple Lethal Type Autosomal Recessive Lethal Multiple Pterygium Syndrome
Myopathy	Muscular Diseases Myopathies
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Congenital Structural Myopathy
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Hyaline Body Myopathy	Myosin Storage Myopathy Autosomal Dominant Hyaline Body Myopathy Myopathy, Myosin Storage
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
Myopathy, Myofibrillar, 4	Myofibrillar Myopathy 4 MFM4 Zaspopathy Myopathy, Myofibrillar, Zasp-Related
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Nemaline Myopathy 5	Amish Nemaline Myopathy NEM5 Anm Nemaline Myopathy, Amish Type Nemaline Myopathy 5, Amish Type Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene Nemaline Myopathy, Type 5 Nemaline Myopathy Amish Type Tnnt1-Related Nemaline Myopathy Myopathy, Nemaline, Type 5
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Nemaline Myopathy 8	NEM8 Nemaline Myopathy 8, Autosomal Recessive Myopathy, Nemaline, Type 8
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure Hmerf Myopathy, Proximal, With Early Respiratory Muscle Involvement Edstrom Myopathy Mfm-Titinopathy MFM9 Mprm Hereditary Inclusion Body Myopathy With Early Respiratory Failure Hibm-Erf Myofibrillar Myopathy-Titinopathy Myofibrillar Myopathy With Early Respiratory Failure Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant Myofibrillar Myopathy 9 Myofibrillar Myopathy 9 With Early Respiratory Failure Autosomal Dominant Distal Myopathy With Early Respiratory Failure Proximal Myopathy With Early Respiratory Muscle Involvement Hereditary Proximal Myopathy With Early Respiratory Failure Admerf Edström Myopathy Hmerf-Erf
Haverhill Fever	Streptobacillosis Streptobacillary Rat-Bite Fever Streptobacillary Fever Rat-Bite Fever Due To Streptobacillus Moniliformis Erythema Arthriticum Epidemicum Epidemic Arthritic Erythema
Noonan Syndrome 2	NS2 Noonan Syndrome, Autosomal Recessive Noonan Syndrome 2, Autosomal Recessive Noonan Syndrome, Type 2
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Endocardial Fibroelastosis	Endomyocardial Fibroelastosis Elastomyofibrosis EFE Efe - [Endocardial Fibroelastosis] Primary Endocardial Fibroelastosis Fibroelastosis Cordis Fetal Endocarditis Fibroelastosis Congenital Endocardial Fibroelastosis Congenital Valvular Endocarditis
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Myopathy, Myofibrillar, 3	Myotilinopathy Myofibrillar Myopathy 3 MFM3 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Lgmd1a Muscular Dystrophy, Limb-Girdle, Type 1a Myopathy, Myofibrillar, Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1, Formerly Lgmd1, Formerly Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly Lgmd1a, Formerly Qualitative Or Quantitative Defects Of Myotilin Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency Distal Myotilinopathy Lgmd1 Limb-Girdle Muscular Dystrophy 1a Mfm Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1 Myopathy Myofibrillar Myotylin-Related Myopathy, Myofibrillar, Type 3
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	Lgmd2j Muscular Dystrophy, Limb-Girdle, Type 2j
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Muscle Tissue Disease
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Muscular Disease
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Physical Disorder	Physical Illness
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D0060	4-Di-2-ASP		99.62%	Unkown
HY-175107	3-Fluoro-α-ethylaminobutiophenone hydrochloride		/	Unkown
HY-RS09168	NEB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19566	Neb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26062	Neb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NEB	VGNC	VGNC:31977
Rattus norvegicus	NEB	RGD	RGD:1311134
Mus musculus	NEB	MGD	MGI:97292
Others	NEB	NCBI