NEB - nebulin Gene

Homo sapiens

Also known as AMC6; NEM2; NEB177D

Gene ID: 4703 | Gene type: protein coding

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

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D0060	4-Di-2-ASP		99.05%	Unkown
HY-RS09168	NEB Human Pre-designed siRNA Set A		/	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