POLDIP2
DNA Polymerase Delta Interacting Protein 2
Gene Information Card
| Symbol | POLDIP2 |
|---|---|
| Full Name | DNA polymerase delta interacting protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 26073 ncbi.nlm.nih.gov/gene/26073 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q9Y2S7 |
| OMIM ID | 611525 |
| HGNC ID | 30183 |
| Aliases | PDIP2, POLD4, p38 |
Description
POLDIP2 encodes a protein that interacts with the p50 subunit of DNA polymerase delta, playing a role in DNA replication and repair. It also functions in mitochondrial dynamics and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect DNA repair and genomic stability | PMID: 23431136 |
| Neurodegenerative disorders | Involvement in mitochondrial fission and oxidative stress | PMID: 25645921 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.1 | Cervical cancer cell line |
| HEK293 | 11.4 | Embryonic kidney cell line |
| K562 | 9.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown functional impact |
| c.454C>T (p.Arg152Trp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential impact on DNA repair.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • mitochondrial fission | • protein binding |
| • nucleus | • cytoplasm |
Pathways
• DNA replication
• Base excision repair
• Mitochondrial dynamics
Protein Summary
POLDIP2 is a 38 kDa protein that localizes to the nucleus and mitochondria. It interacts with DNA polymerase delta and participates in DNA replication and repair. Additionally, it regulates mitochondrial fission by interacting with Drp1 and is involved in cellular responses to oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLDIP2 Knockout HEK293 Cell Line | EDJ-KQ8387 | Human | 26073 | Details Get a Quote |
| POLDIP2 Knockout A-549 Cell Line | EDJ-KQ34446 | Human | 26073 | Details Get a Quote |
| POLDIP2 Knockout HCT 116 Cell Line | EDJ-KQ34447 | Human | 26073 | Details Get a Quote |
| POLDIP2 Knockout HeLa Cell Line | EDJ-KQ34448 | Human | 26073 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
