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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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URB2
URB2 ribosome biogenesis homolog
Chromosome 1 · 1q42.13
NCBI Gene: 9816Ensembl: ENSG00000135763.11HGNC: HGNC:28967UniProt: Q14146
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleolusmidbodyribosome biogenesisregulation of signal transduction by p53 class mediatorinsomniaepilepsyFamilial prostate cancerprostate cancer
✦AI Summary

URB2 is a ribosome biogenesis protein essential for hematopoietic stem cell (HSC) development. Functionally, URB2 localizes to the nucleolus and midbody, where it regulates ribosome biogenesis 1. The primary mechanism involves regulation of the p53/TP53 pathway; URB2 deficiency leads to p53 pathway upregulation, causing compromised cell proliferation and excessive apoptosis in hematopoietic tissues 1. Loss of p53 function fully rescues hematopoietic defects in URB2-deficient models, establishing p53 as a critical downstream effector 1. Disease relevance: URB2 mutations associate with ribosomopathies, a class of diseases characterized by defective ribosome biogenesis. Specifically, URB2 dysfunction impairs HSC expansion and early T cell development in the thymus 1. Additionally, URB2 variants (p.Glu594Val) influence fasting insulin levels 2 and have been identified in association studies of metabolic traits and meat quality composition 3. Clinical significance: Given URB2's role in hematopoiesis regulation through p53 control, understanding URB2 dysfunction could inform therapeutic strategies for hematopoietic disorders and ribosomopathies. The gene's involvement in metabolic regulation suggests broader clinical implications beyond hematopoiesis.

Sources cited
1
URB2 is essential for HSC development through p53 pathway regulation; deficiency decreases HSC populations and increases apoptosis in hematopoietic tissue
PMID: 29470984
2
URB2 p.Glu594Val variant influences fasting insulin levels in humans
PMID: 25625282
3
URB2 identified as candidate gene associated with oleic acid composition in pork meat, participating in lipid metabolism pathways
PMID: 41696008
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
insomniaOpen Targets
0.18Weak
epilepsyOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
Sacroiliac arthritisOpen Targets
0.11Weak
spinal cord diseaseOpen Targets
0.09Suggestive
phobic disorderOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
hair colorOpen Targets
0.07Suggestive
breast carcinomaOpen Targets
0.06Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
asthmaOpen Targets
0.03Suggestive
osteomyelitisOpen Targets
0.03Suggestive
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.02Suggestive
splenic diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
URB1Protein interaction89%NOL8Protein interaction76%DDX31Protein interaction68%RBISShared pathway50%SETD9Shared pathway50%TSR1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Ovary
61%
Heart
61%
Lung
50%
Liver
48%
Gene Interaction Network
Click a node to explore
URB2URB1NOL8DDX31RBISSETD9TSR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14146
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.55–0.79]
RankingsWhere URB2 stands among ~20K protein-coding genes
  • #7,932of 20,598
    Most Researched58
  • #6,466of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedURB2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Ribosome biogenesis protein Urb2 regulates hematopoietic stem cells development via P53 pathway in zebrafish.
PMID: 29470984
Biochem Biophys Res Commun · 2018
1.00
2
Multi-omics identification of RNASE6 as an immune regulatory RNA-binding protein associated with melanoma metastasis.
PMID: 41055424
Autoimmunity · 2025
0.83
3
Regulatory network analysis of hypertension and hypotension microarray data from mouse model.
PMID: 29400567
Clin Exp Hypertens · 2018
0.67
4
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
PMID: 25625282
PLoS Genet · 2015
0.50
5
Long noncoding RNA expression profiles in sub-lethal heat-treated hepatoma carcinoma cells.
PMID: 28732507
World J Surg Oncol · 2017
0.33