EXD3 (Exonuclease 3'-5' Domain Containing 3)
A gene encoding a putative 3'-5' exonuclease involved in DNA repair and replication.
Gene Information Card
| Symbol | EXD3 |
|---|---|
| Full Name | Exonuclease 3'-5' Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 54929 ncbi.nlm.nih.gov/gene/54929 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617420 |
| HGNC ID | 29387 |
| Aliases | FLJ11273, MGC138290 |
Description
EXD3 (Exonuclease 3'-5' Domain Containing 3) is a protein-coding gene located on chromosome 9q34.3. The encoded protein contains a 3'-5' exonuclease domain, suggesting a role in DNA repair, replication, or RNA processing. EXD3 is conserved across eukaryotes and is expressed in multiple tissues. Its precise biological function and disease associations are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No curated evidence in ClinVar or OMIM as of 2025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.3 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| HepG2 | 5.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Predicted loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exonuclease activity (GO:0008408) | • nucleic acid binding (GO:0003676) |
| • DNA repair (GO:0006281) | • nucleus (GO:0005634) |
Pathways
• DNA repair (Reactome: R-HSA-73894)
• Base excision repair (Reactome: R-HSA-73884)
Protein Summary
The EXD3 protein (UniProt Q8N6T3) contains a conserved 3'-5' exonuclease domain, characteristic of enzymes that remove nucleotides from the 3' end of DNA or RNA. This activity is critical for proofreading during DNA replication and for repair of damaged DNA. The protein is predicted to localize to the nucleus. Structural and functional studies are limited, and its exact substrates and cellular roles remain to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXD3 Knockout HEK293 Cell Line | EDJ-KQ13342 | Human | 54932 | Details Get a Quote |
| EXD3 Knockout A-549 Cell Line | EDJ-KQ42821 | Human | 54932 | Details Get a Quote |
| EXD3 Knockout HCT 116 Cell Line | EDJ-KQ42822 | Human | 54932 | Details Get a Quote |
| EXD3 Knockout HeLa Cell Line | EDJ-KQ42823 | Human | 54932 | Details Get a Quote |
