NEB

GENE INFORMATION

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Gene name

NEB (HGNC Symbol)

Synonyms

NEB177D, NEM2

Description

Nebulin (HGNC Symbol)

Entrez gene 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]

Chromosome

2

Cytoband

q23.3

Chromosome location (bp)

151485336 - 151734487

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183091 (version 78.38)

Entrez gene

4703

UniProt

P20929 (UniProt - Evidence at protein level)

neXtProt

NX_P20929

Antibodypedia

NEB antibodies
 

PROTEIN VIEW

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 « 
 
NEB-001
 
NEB-002
 
NEB-003
 
NEB-004
 
NEB-006
 
NEB-013
 
NEB-014
 
NEB-017
 
NEB-018
 
NEB-201
 
NEB-202
 
NEB-203
 
NEB-204
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEB-001 ENSP00000386259
ENST00000409198
P20929
Show all »
Show » Show » 6669 772.9 No 0
NEB-002 ENSP00000410961
ENST00000413693
H0Y786
Show all »
Show » Show » 3007 348.9 No 0
NEB-003 ENSP00000389074
ENST00000434685
Show » Show » 766 87.4 No 0
NEB-004 ENSP00000380498
ENST00000397337
Q96MF8
Show all »
Show » Show » 659 74.7 No 0
NEB-006 ENSP00000405167
ENST00000420924
H7C2D0
Show all »
Show » Show » 250 30 No 0
NEB-013 ENSP00000404876
ENST00000424585
H7C2B3
Show all »
Show » 255 28.8 No 0
NEB-014 ENSP00000408570
ENST00000421461
Show » 401 45.4 No 0
NEB-017 ENSP00000473894
ENST00000603639
P20929
Show all »
Show » Show » 8525 986.7 No 0
NEB-018 ENSP00000474498
ENST00000604864
P20929
Show all »
Show » Show » 8525 986.7 No 0
NEB-201 ENSP00000172853
ENST00000172853
P20929
Show all »
Show » Show » 6669 772.9 No 0
NEB-202 ENSP00000380505
ENST00000397345
P20929
Show all »
Show » Show » 8525 986.7 No 0
NEB-203 ENSP00000416578
ENST00000427231
P20929
Show all »
Show » Show » 8525 986.7 No 0
NEB-204 ENSP00000484342
ENST00000618972
Show » Show » 8560 990.8 No 0