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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NEBL
nebulette
Chromosome 10 Β· 10p12.31
NCBI Gene: 10529Ensembl: ENSG00000078114.20HGNC: HGNC:16932UniProt: O76041
73PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingtropomyosin bindingcytoskeletal protein bindingcardiac muscle thin filament assemblyatrial fibrillationneurodegenerative diseasesmoking initiationdilated cardiomyopathy
✦AI Summary

NEBL (nebulette) encodes a cytoskeletal protein that functions as a structural component in muscle tissue, particularly in cardiac muscle thin filament assembly and Z disc organization 1. The protein exhibits actin filament binding activity and serves as a structural constituent of muscle, with roles in focal adhesion assembly. In cardiac pathophysiology, NEBL shows promoter hypomethylation and increased expression in dilated cardiomyopathy-associated heart failure, suggesting involvement in cardiac stress response mechanisms 1. NEBL has been implicated in sudden cardiac death syndromes, particularly dilated cardiomyopathy 2. In cancer biology, NEBL demonstrates complex, tissue-specific roles. In colorectal cancer, NEBL overexpression is associated with lymph node metastasis 3 and follows a gradual upregulation pattern in the mucosa-adenoma-carcinoma sequence 4, while paradoxically correlating with positive prognosis for overall survival 5. Conversely, in clear cell renal cell carcinoma, NEBL functions as a tumor suppressor, where downregulation promotes migration and invasion through epithelial-mesenchymal transition 6. Additionally, NEBL can form oncogenic fusion proteins with MLL in infant acute myeloid leukemia 7.

Sources cited
1
NEBL is involved in cardiac muscle function and shows promoter hypomethylation with increased expression in dilated cardiomyopathy-associated heart failure
PMID: 40296161
2
NEBL is implicated in sudden cardiac death syndromes, particularly dilated cardiomyopathy
PMID: 21430528
3
NEBL overexpression is significantly associated with lymph node metastasis in colorectal cancer patients
PMID: 30186581
4
NEBL shows gradual upregulation in the colorectal mucosa-adenoma-carcinoma sequence
PMID: 35854639
5
NEBL overexpression correlates with positive prognosis for overall survival in colorectal cancer
PMID: 29257257
6
NEBL functions as a tumor suppressor in clear cell renal cell carcinoma, where downregulation promotes epithelial-mesenchymal transition
PMID: 38215565
7
NEBL forms oncogenic fusion proteins with MLL in infant acute myeloid leukemia
PMID: 23340173
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.41Moderate
dilated cardiomyopathyOpen Targets
0.36Weak
cardiac arrhythmiaOpen Targets
0.35Weak
hypertrophic cardiomyopathyOpen Targets
0.35Weak
placenta praeviaOpen Targets
0.34Weak
response to selective serotonin reuptake inhibitorOpen Targets
0.32Weak
coronary aneurysmOpen Targets
0.32Weak
preeclampsiaOpen Targets
0.31Weak
diabetic ketoacidosisOpen Targets
0.30Weak
pituitary gland diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.28Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.28Weak
rheumatic diseaseOpen Targets
0.28Weak
atrial flutterOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.27Weak
schizophreniaOpen Targets
0.26Weak
autosomal dominant compelling helio-ophthalmic outburst syndromeOpen Targets
0.26Weak
Pathogenic Variants1
NM_006393.3(NEBL):c.1253del (p.Asn418fs)Likely pathogenic
Primary dilated cardiomyopathy
β˜…β˜†β˜†β˜†2019β†’ Residue 418
View on ClinVar β†—
Related Genes
ACTN2Protein interaction95%TTNProtein interaction95%MYPNProtein interaction95%XIRP2Protein interaction86%HAND2Protein interaction80%ZYXProtein interaction75%
Tissue Expression6 tissues
Heart
100%
Brain
6%
Lung
1%
Liver
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
NEBLACTN2TTNMYPNXIRP2HAND2ZYX
PROTEIN STRUCTURE
Preparing viewer…
PDB4F14 Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.70–1.04]
RankingsWhere NEBL stands among ~20K protein-coding genes
  • #6,488of 20,598
    Most Researched73
  • #4,985of 5,498
    Most Pathogenic Variants1
  • #10,293of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedNEBL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Functional analysis of the two reciprocal fusion genes MLL-NEBL and NEBL-MLL reveal their oncogenic potential.
PMID: 23340173
Cancer Lett Β· 2013
1.00
2
Downregulation of NEBL promotes migration and invasion of clear cell renal cell carcinoma by inducing epithelial-mesenchymal transition.
PMID: 38215565
Pathol Res Pract Β· 2024
0.90
3
Integrative DNA methylome and transcriptome analysis identify potential genes on the influence of dilated cardiomyopathy-associated heart failure.
PMID: 40296161
Clin Epigenetics Β· 2025
0.80
4
Profiles of differentially expressed genes and overexpression of NEBL indicates a positive prognosis in patients with colorectal cancer.
PMID: 29257257
Mol Med Rep Β· 2018
0.70
5
LIM and SH3 protein 2 (Lasp2) is a novel pregnane X receptor target gene in mouse liver.
PMID: 40023092
Mol Pharmacol Β· 2025
0.60