TATDN2
TatD DNase Domain Containing 2
Gene Information Card
| Symbol | TATDN2 |
|---|---|
| Full Name | TatD DNase Domain Containing 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 9797 ncbi.nlm.nih.gov/gene/9797 |
| Ensembl ID | ENSG00000163666 |
| UniProt ID | Q9Y2Q0 |
| OMIM ID | 612408 |
| HGNC ID | 24186 |
| Aliases | FLJ10858, MGC138290, dJ1181N3.1 |
Description
TATDN2 encodes a protein containing a TatD DNase domain, which is conserved across species and implicated in DNA repair and nuclease activity. The gene is located on chromosome 3q25.31 and is expressed in multiple tissues. Its exact biological role is not fully characterized, but it may function in DNA damage response and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in DNA repair; altered expression may contribute to genomic instability | COSMIC database reports somatic mutations in various cancers |
| Not specified | No specific disease association established in OMIM or ClinVar | Limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 6.5 | Low |
| Lung | 5.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.0 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| K562 | 5.2 | Low expression |
| A549 | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.682G>A (p.Glu228Lys) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1003_1004insA | Frameshift | Rare | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to loss of function, but no functional studies confirm.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA nuclease activity | • DNA repair |
| • apoptotic process | • nucleus |
Pathways
• No specific pathways curated in Reactome or KEGG
Protein Summary
The TATDN2 protein (UniProt Q9Y2Q0) contains a TatD DNase domain, suggesting nuclease activity involved in DNA metabolism. It is localized to the nucleus and may participate in DNA repair or apoptotic DNA fragmentation. The protein is 361 amino acids long with a molecular weight of approximately 41 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TATDN2 Knockout HEK293 Cell Line | EDJ-KQ6752 | Human | 9797 | Details Get a Quote |
| TATDN2 Knockout A-549 Cell Line | EDJ-KQ31173 | Human | 9797 | Details Get a Quote |
| TATDN2 Knockout HCT 116 Cell Line | EDJ-KQ31174 | Human | 9797 | Details Get a Quote |
| TATDN2 Knockout HeLa Cell Line | EDJ-KQ31175 | Human | 9797 | Details Get a Quote |
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