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NEB

GENERAL INFORMATION

Gene name

 NEB

Gene description

 Nebulin

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 13
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enhanced (head and neck cancer)
HPA (cell line):Cell line enhanced (RH-30, U-266/70)
HPA (normal tissue):Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in skeletal muscle.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA016601
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enhanced (head and neck cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA016601

GENE INFORMATION

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 83.38)

Entrez gene

 4703

UniProt

 P20929 (UniProt - Evidence at protein level)

neXtProt

 NX_P20929

Antibodypedia

 NEB antibodies

PROTEIN BROWSER
«
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

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NEB-001
ENSP00000386259
ENST00000409198
P20929 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030832 [regulation of actin filament length]
GO:0070062 [extracellular exosome]
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 6669 aa
772.9 kDa 		No 0
NEB-002
ENSP00000410961
ENST00000413693
H0Y786 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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GO:0003779 [actin binding]
GO:0005515 [protein binding]
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 3007 aa
348.9 kDa 		No 0
NEB-003
ENSP00000389074
ENST00000434685
H7BZD5 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 766 aa
87.4 kDa 		No 0
NEB-004
ENSP00000380498
ENST00000397337
H0Y3P5 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 659 aa
74.7 kDa 		No 0
NEB-006
ENSP00000405167
ENST00000420924
H7C2D0 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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GO:0003779 [actin binding]
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 250 aa
30 kDa 		No 0
NEB-013
ENSP00000404876
ENST00000424585
H7C2B3 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 255 aa
28.8 kDa 		No 0
NEB-014
ENSP00000408570
ENST00000421461
H7C2Z5 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 401 aa
45.4 kDa 		No 0
NEB-017
ENSP00000473894
ENST00000603639
P20929 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030832 [regulation of actin filament length]
GO:0070062 [extracellular exosome]
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 8525 aa
986.7 kDa 		No 0
NEB-018
ENSP00000474498
ENST00000604864
P20929 [Direct mapping]
Nebulin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030832 [regulation of actin filament length]
GO:0070062 [extracellular exosome]
Show all
 8525 aa
986.7 kDa 		No 0
NEB-201
ENSP00000172853
ENST00000172853
P20929 [Direct mapping]
Nebulin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030832 [regulation of actin filament length]
GO:0070062 [extracellular exosome]
Show all
 6669 aa
772.9 kDa 		No 0
NEB-202
ENSP00000380505
ENST00000397345
P20929 [Direct mapping]
Nebulin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030832 [regulation of actin filament length]
GO:0070062 [extracellular exosome]
Show all
 8525 aa
986.7 kDa 		No 0
NEB-203
ENSP00000416578
ENST00000427231
P20929 [Direct mapping]
Nebulin
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030832 [regulation of actin filament length]
GO:0070062 [extracellular exosome]
Show all
 8525 aa
986.7 kDa 		No 0
NEB-204
ENSP00000484342
ENST00000618972
A0A087X1N7 [Direct mapping]
Nebulin
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0030016 [myofibril]
GO:0043292 [contractile fiber]
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 8560 aa
990.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.