Identity
HGNC
LOCATION
2q23.3
LOCUSID
ALIAS
AMC6,NEB177D,NEM2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4703
MIM: 161650
HGNC: 7720
Ensembl: ENSG00000183091
Variants:
dbSNP: 4703
ClinVar: 4703
TCGA: ENSG00000183091
COSMIC: NEB
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38520674 | 2024 | Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. | 0 |
| 38634969 | 2024 | Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. | 0 |
| 38520674 | 2024 | Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. | 0 |
| 38634969 | 2024 | Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. | 0 |
| 33674626 | 2021 | Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study. | 2 |
| 33674626 | 2021 | Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study. | 2 |
| 31696431 | 2020 | A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. | 3 |
| 32062132 | 2020 | An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. | 1 |
| 32222963 | 2020 | Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. | 5 |
| 32390000 | 2020 | Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice. | 4 |
| 31696431 | 2020 | A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. | 3 |
| 32062132 | 2020 | An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. | 1 |
| 32222963 | 2020 | Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. | 5 |
| 32390000 | 2020 | Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice. | 4 |
| 30356055 | 2018 | Two 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/neb
