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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NT5C3B
5'-nucleotidase, cytosolic IIIB
Chromosome 17 · 17q21.2
NCBI Gene: 115024Ensembl: ENSG00000141698.18HGNC: HGNC:28300UniProt: Q969T7
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
5'-nucleotidase activitycytoplasmnuclear-transcribed mRNA catabolic process, deadenylation-dependent decaycytosolAbnormality of the skeletal systemAlzheimer diseaseleukemiaacute lymphoblastic leukemia
✦AI Summary

NT5C3B encodes 5'-nucleotidase, cytosolic IIIB, a specialized enzyme that specifically hydrolyzes 7-methylguanosine monophosphate (m7GMP) to 7-methylguanosine and inorganic phosphate 12. This specific activity likely protects cells against unwanted salvage of m7GMP and its incorporation into nucleic acids 1. The enzyme also exhibits weak activity toward CMP, while UMP and purine nucleotides are poor substrates 12. NT5C3B participates in mRNA catabolic processes, specifically deadenylation-dependent decay pathways, and localizes to the cytosol and cytoplasm. Genetically, NT5C3B variants show associations with multiple complex traits: a SNP (rs4796712) associated with airway wall thickness in smokers showed increased lung tissue expression with the risk allele 3. Gene-environment interaction analyses identified NT5C3B interactions with BMI for blood pressure phenotypes 4. In disease contexts, NT5C3B showed altered methylation in coal-burning arsenic poisoning populations 5 and was identified as a gene expression biomarker in pediatric acute lymphoblastic leukemia diagnostics 6. NT5C3B was also associated with fold-change in plasma amyloid-β42 levels in African Americans 7. These findings suggest NT5C3B's involvement in lung function, metabolic phenotypes, and potential disease biomarkers.

Sources cited
1
NT5C3B specifically hydrolyzes m7GMP to 7-methylguanosine and inorganic phosphate, protecting against unwanted m7GMP salvage
PMID: 23223233
2
Confirms NT5C3B's specific activity for m7GMP and weak activity for CMP
PMID: 24603684
3
SNP rs4796712 in NT5C3B associated with airway wall thickness; risk allele associated with higher lung tissue expression
PMID: 25517131
4
NT5C3B showed gene-environment interactions with BMI for blood pressure phenotypes in genome-wide analysis
PMID: 37481617
5
NT5C3B identified as a target gene with altered DNA methylation in coal-burning arsenic poisoning patients
PMID: 36436256
6
NT5C3B included in 8-gene expression panel for detection of leukemic cells and MRD in pediatric ALL
PMID: 41596324
7
NT5C3B associated with fold-change in plasma amyloid-β42 levels in African Americans via SKAT analysis
PMID: 28704393
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.22Weak
Alzheimer diseaseOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
pancreatic adenocarcinomaOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PABPN1LShared pathway100%UPP2Protein interaction98%UPRTProtein interaction97%ADAProtein interaction95%ADKProtein interaction95%ADSLProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Ovary
90%
Brain
88%
Heart
56%
Lung
55%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
NT5C3BPABPN1LUPP2UPRTADAADKADSL
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZEE · 1.36 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.69–1.39]
RankingsWhere NT5C3B stands among ~20K protein-coding genes
  • #15,939of 20,598
    Most Researched14
  • #14,407of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedNT5C3B
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Cauchy combination methods for the detection of gene-environment interactions for rare variants related to quantitative phenotypes.
PMID: 37481617
Heredity (Edinb) · 2023
1.00
2
Investigating the role of cathepsins in breast cancer progression: a Mendelian randomization study.
PMID: 39944834
Front Oncol · 2025
0.83
3
Genome-wide DNA methylation pattern in whole blood of patients with coal-burning arsenic poisoning.
PMID: 36436256
Ecotoxicol Environ Saf · 2022
0.67
4
Novel genes for airway wall thickness identified with combined genome-wide association and expression analyses.
PMID: 25517131
Am J Respir Crit Care Med · 2015
0.50
5
Utility of a Digital PCR-Based Gene Expression Panel for Detection of Leukemic Cells in Pediatric Acute Lymphoblastic Leukemia.
PMID: 41596324
Int J Mol Sci · 2026
0.33