NT5DC4
5'-Nucleotidase Domain Containing 4
Gene Information Card
| Symbol | NT5DC4 |
|---|---|
| Full Name | 5'-Nucleotidase Domain Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 284018 ncbi.nlm.nih.gov/gene/284018 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q5TFE4 |
| OMIM ID | 618362 |
| HGNC ID | 26708 |
| Aliases | FLJ22662, MGC13017 |
Description
NT5DC4 (5'-Nucleotidase Domain Containing 4) is a protein-coding gene located on chromosome 2q11.2. It encodes a protein containing a 5'-nucleotidase domain, which may be involved in nucleotide metabolism. The gene is broadly expressed in various tissues, with highest levels in the brain and testis. Its precise biological function and disease associations are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in tumorigenesis via altered nucleotide metabolism | COSMIC somatic mutations reported |
| Neurodevelopmental disorders | Possible involvement in brain development | Expression in brain; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 6.8 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.9 | Moderate expression |
| HeLa | 6.2 | Low expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.01% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity | • nucleotide binding |
| • hydrolase activity | • membrane |
Pathways
• Nucleotide metabolism
• Purine salvage
Protein Summary
The NT5DC4 protein contains a 5'-nucleotidase domain, suggesting a role in dephosphorylating nucleoside monophosphates. It is predicted to be membrane-associated and may participate in nucleotide salvage pathways. Structural and functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5DC4 Knockout HEK293 Cell Line | EDJ-KQ14506 | Human | 284958 | Details Get a Quote |
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