NEB (nebulin)

2003-12-01  

Identity

HGNC
NEB
LOCATION
2q23.3
LOCUSID
4703
ALIAS
AMC6,NEB177D,NEM2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4703
MIM: 161650
HGNC: 7720
Ensembl: ENSG00000183091

Variants:

dbSNP: 4703
ClinVar: 4703
TCGA: ENSG00000183091
COSMIC: NEB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183091ENST00000172853P20929
ENSG00000183091ENST00000397337H0Y3P5
ENSG00000183091ENST00000397345P20929
ENSG00000183091ENST00000409198P20929
ENSG00000183091ENST00000413693H0Y786
ENSG00000183091ENST00000420924H7C2D0
ENSG00000183091ENST00000421461H7C2Z5
ENSG00000183091ENST00000424585H7C2B3
ENSG00000183091ENST00000427231P20929
ENSG00000183091ENST00000434685H7BZD5
ENSG00000183091ENST00000603639P20929
ENSG00000183091ENST00000604864P20929
ENSG00000183091ENST00000618972A0A087X1N7

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385206742024Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.0
386349692024Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.0
385206742024Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.0
386349692024Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.0
336746262021Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.2
336746262021Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.2
316964312020A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.3
320621322020An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.1
322229632020Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.5
323900002020Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.4
316964312020A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.3
320621322020An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.1
322229632020Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.5
323900002020Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.4
303560552018Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.10

Citation

Dessen P

NEB (nebulin)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41517