This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3` to 5` exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimu
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
DNA polymerase delta subunit 2 (DNA polymerase delta subunit p50)
Protein function
Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex (PubMed:17317665, PubMed:22801543, PubMed:24449906). As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Po
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["non-severe combined immunodeficiency due to polymerase delta deficiency"]
22
["DNA replication","Base excision repair","Nucleotide excision repair","Mismatch repair","Homologous recombination","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","Polymerase switching on the C-strand of the telomere","Processive synthesis on the C-strand of the telomere"]
1
["ClinGen (non-severe combined immunodeficiency due to polymerase delta deficiency)"]
["DNA replication","Base excision repair","Nucleotide excision repair","Mismatch repair","Homologous recombination","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","Polymerase switching on the C-strand of the telomere","Processive synthesis on the C-strand of the telomere"]
["DNA replication","Base excision repair","Nucleotide excision repair","Mismatch repair","Homologous recombination","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","Polymerase switching on the C-strand of the telomere","Processive synthesis on the C-strand of the telomere"]
["DNA replication","Base excision repair","Nucleotide excision repair","Mismatch repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","Polymerase switching on the C-strand of the telomere","Processive synthesis on the C-strand of the telomere","Telomere C-strand (Lagging Strand) Synthesis"]
["DNA replication","Base excision repair","Nucleotide excision repair","Mismatch repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","Polymerase switching on the C-strand of the telomere","PCNA-Dependent Long Patch Base Excision Repair","Termination of translesion DNA synthesis"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to POLD2 (see Related Genes above), that are NOT already directly curated for POLD2 itself -- a lead worth checking, not a confirmed association.