Tissue expression of NEB - Summary - The Human Protein Atlas

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NEB

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Tissue enriched (skeletal muscle)
GTEx:	Tissue enriched (skeletal muscle)
FANTOM5:	Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in skeletal muscle.

DATA RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. HPA016601
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

Skeletal muscle

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)

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 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	6669 aa 772.9 kDa	No	0
NEB-002 ENSP00000410961 ENST00000413693	H0Y786 [Direct mapping] Nebulin Show all	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] Show all	3007 aa 348.9 kDa	No	0
NEB-003 ENSP00000389074 ENST00000434685	H7BZD5 [Direct mapping] Nebulin Show all	Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	766 aa 87.4 kDa	No	0
NEB-004 ENSP00000380498 ENST00000397337	H0Y3P5 [Direct mapping] Nebulin Show all	Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	659 aa 74.7 kDa	No	0
NEB-006 ENSP00000405167 ENST00000420924	H7C2D0 [Direct mapping] Nebulin Show all	Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003779 [actin binding] Show all	250 aa 30 kDa	No	0
NEB-013 ENSP00000404876 ENST00000424585	H7C2B3 [Direct mapping] Nebulin Show all	Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all		255 aa 28.8 kDa	No	0
NEB-014 ENSP00000408570 ENST00000421461	H7C2Z5 [Direct mapping] Nebulin Show all	Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all		401 aa 45.4 kDa	No	0
NEB-017 ENSP00000473894 ENST00000603639	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-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 Show all	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] Show all	8560 aa 990.8 kDa	No	0

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The Human Protein Atlas

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