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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NUMBL
NUMB like endocytic adaptor protein
Chromosome 19 · 19q13.2
NCBI Gene: 9253Ensembl: ENSG00000105245.10HGNC: HGNC:8061UniProt: A0A0C4DGH3
82PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein metabolic processprotein bindingcytokine-mediated signaling pathwaypositive regulation of neurogenesisnephrotic syndromeneoplasmcancerglioma
✦AI Summary

NUMBL (NUMB Like Endocytic Adaptor Protein) is a tumor suppressor protein that plays critical roles in neurogenesis and immune regulation. During embryonic development, NUMBL is required to maintain neural progenitor cells and regulate cell fate decisions, continuing to function postnatally in subventricular zone neurogenesis 1. NUMBL acts as a negative regulator of multiple signaling pathways, including NF-κB signaling through interaction with TAB2, where it impairs TAB2 binding to TRAF6 and inhibits TRAF6 ubiquitination 2. The protein functions primarily through inhibition of Notch signaling pathways, which is essential for proper cell differentiation 3. NUMBL demonstrates tumor suppressive properties across multiple cancer types, with abnormal expression significantly associated with clinicopathologic stages and survival prognosis 4. In melanoma, NUMBL inhibits tumor growth by modulating the immune microenvironment, affecting CD8+ T cells, CD19+ B cells, and NK cells 5. Genetic alterations in NUMBL, including dominant-negative mutations, have been associated with inflammatory disorders such as multisystem inflammatory syndrome in children, where they lead to Notch1 upregulation and regulatory T cell destabilization 6. These findings establish NUMBL as a key regulator of cell fate determination and immune homeostasis.

Sources cited
1
NUMBL is required for maintaining neural progenitor cells and regulating cell fate decisions during embryonic development and postnatal neurogenesis
PMID: 27383182
2
NUMBL negatively regulates NF-κB signaling through interaction with TAB2, impairing TAB2-TRAF6 binding and inhibiting TRAF6 ubiquitination
PMID: 18299187
3
NUMBL functions as a tumor suppressor through regulation of Notch signaling pathways
PMID: 29507685
4
Abnormal NUMBL expression is significantly associated with clinicopathologic stages and survival prognosis across multiple cancer types
PMID: 37657045
5
NUMBL inhibits melanoma tumor growth by modulating immune microenvironment, affecting CD8+ T cells, CD19+ B cells, and NK cells
PMID: 39558287
6
Dominant-negative mutations in NUMBL lead to Notch1 upregulation and regulatory T cell destabilization in multisystem inflammatory syndrome
PMID: 36282598
Disease Associationsⓘ20
nephrotic syndromeOpen Targets
0.13Weak
neoplasmOpen Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.07Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.06Suggestive
premature ovarian failure 19Open Targets
0.05Suggestive
papillary thyroid carcinomaOpen Targets
0.05Suggestive
invasive hydatidiform moleOpen Targets
0.05Suggestive
female infertility due to zona pellucida defectOpen Targets
0.05Suggestive
oocyte maturation defect 11Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 18Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.05Suggestive
Rare genetic female infertilityOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTNNB1Protein interaction100%LNX1Protein interaction99%MDM2Protein interaction99%NOTCH1Protein interaction99%EPS15Protein interaction99%NOTCH2Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Lung
47%
Liver
39%
Brain
37%
Heart
24%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
NUMBLCTNNB1LNX1MDM2NOTCH1EPS15NOTCH2
PROTEIN STRUCTURE
Preparing viewer…
PDB3F0W · 2.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.30Tolerant
Observed/Expected LoF0.41 [0.28–0.62]
RankingsWhere NUMBL stands among ~20K protein-coding genes
  • #5,812of 20,598
    Most Researched82
  • #4,360of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedNUMBL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NUMB and NUMBL differences in gene regulation.
PMID: 29507685
Oncotarget · 2018
1.00
2
Comprehensive pan-cancer analysis of expression profiles and prognostic significance for NUMB and NUMBL in human tumors.
PMID: 37657045
Medicine (Baltimore) · 2023
0.90
3
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.
PMID: 36282598
J Clin Invest · 2023
0.80
4
NUMBL interacts with TAB2 and inhibits TNFalpha and IL-1beta-induced NF-kappaB activation.
PMID: 18299187
Cell Signal · 2008
0.70
5
Translocations and Gene Fusions in Sinonasal Malignancies.
PMID: 36753024
Curr Oncol Rep · 2023
0.60