NT5C3B Gene
5'-Nucleotidase, Cytosolic IIIB
Gene Information Card
| Symbol | NT5C3B |
|---|---|
| Full Name | 5'-Nucleotidase, Cytosolic IIIB |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 115024 ncbi.nlm.nih.gov/gene/115024 |
| Ensembl ID | ENSG00000167978 |
| UniProt ID | Q969T7 |
| OMIM ID | 606224 |
| HGNC ID | 17899 |
| Aliases | UMPH2, cN-IIIB, dNT-2 |
Description
NT5C3B encodes a cytosolic 5'-nucleotidase that preferentially dephosphorylates pyrimidine nucleoside monophosphates, particularly UMP and dTMP. It plays a role in nucleotide metabolism and may influence intracellular nucleotide pool balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyrimidine metabolism disorders | Deficiency leads to altered UMP/dTMP levels | Inferred from functional studies (UniProt) |
| Cancer (general) | Altered expression may affect nucleotide salvage | Limited evidence (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Liver | 6.2 | Low |
| Kidney | 5.1 | Low |
| Brain | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.1 | Moderate expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity | • UMP phosphatase activity |
| • dTMP phosphatase activity | • nucleotide catabolic process |
| • cytosol |
Pathways
• Pyrimidine metabolism (Reactome: R-HSA-8956319)
Protein Summary
NT5C3B is a 297-amino acid cytosolic enzyme that catalyzes the dephosphorylation of pyrimidine nucleoside monophosphates, with highest activity toward UMP and dTMP. It belongs to the 5'-nucleotidase family and is involved in maintaining intracellular nucleotide homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5C3B Knockout HEK293 Cell Line | EDJ-KQ7502 | Human | 115024 | Details Get a Quote |
| NT5C3B Knockout A-549 Cell Line | EDJ-KQ32763 | Human | 115024 | Details Get a Quote |
| NT5C3B Knockout HCT 116 Cell Line | EDJ-KQ32764 | Human | 115024 | Details Get a Quote |
| NT5C3B Knockout HeLa Cell Line | EDJ-KQ32765 | Human | 115024 | Details Get a Quote |
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