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    POLD2 DNA polymerase delta 2, accessory subunit [ Homo sapiens (human) ]

    Gene ID: 5425, updated on 2-Nov-2024

    Summary

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    Official Symbol
    POLD2provided by HGNC
    Official Full Name
    DNA polymerase delta 2, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9176
    See related
    Ensembl:ENSG00000106628 MIM:600815; AllianceGenome:HGNC:9176
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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 stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in heart (RPKM 20.0), ovary (RPKM 19.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLD2 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (44114680..44124325, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44273211..44282858, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44154279..44163147, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25929 Neighboring gene microRNA 6838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44119156-44120063 Neighboring gene DNA polymerase mu Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:44121903-44122403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140397-44140898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140899-44141398 Neighboring gene AE binding protein 1 Neighboring gene microRNA 4649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44163329-44164233 Neighboring gene RNA, 5S ribosomal pseudogene 230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44178085-44178585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44179743-44180585 Neighboring gene myosin light chain 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis.
      Title: Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis.
    2. Polymerase delta promotes chromosomal rearrangements and imprecise double-strand break repair.
      Title: Polymerase δ promotes chromosomal rearrangements and imprecise double-strand break repair.
    3. ShRNA-based POLD2 expression knockdown sensitizes glioblastoma to DNA-Damaging therapeutics.
      Title: ShRNA-based POLD2 expression knockdown sensitizes glioblastoma to DNA-Damaging therapeutics.
    4. In patients from 2 independent pedigrees, we have identified what we believe to be a novel syndrome with reduced functionality of the polymerase delta complex caused by germline biallelic mutations in POLD1 or POLD2 as the underlying etiology of a previously unknown autosomal-recessive syndrome that combines replicative stress, neurodevelopmental abnormalities, and immunodeficiency.
      Title: Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
    5. The role in cellular processes (DNA replication, DNA repair, homologous recombination) and cell cycle regulation of 2 forms of human DNA polymerase delta: delta3 and delta4 was reviewed. (REVIEW)
      Title: Two forms of human DNA polymerase δ: Who does what and why?
    6. The proofreading activity of DNA polymerase delta plays a role in shunting DNA mismatch repair to an EXO1-dependent excision pathway as opposed to directly participating in gap formation via its 3'-5' exonuclease activity.
      Title: Human DNA polymerase delta double-mutant D316A;E318A interferes with DNA mismatch repair in vitro.
    7. Inhibition of DNA polymerases a, delra and e by AFP promoter-driven artificial microRNAs may lead to effective growth arrest of AFP-positive HCC cells,as novel strategy for gene therapy
      Title: DNA Polymerases as targets for gene therapy of hepatocellular carcinoma.
    8. The results show that the FF483-484 amino acids in the human Poleta (designated F1 motif) are necessary for the interaction of this polymerase with POLD2, the B subunit of the replicative DNA polymerase delta, both in vitro and in vivo.
      Title: FF483-484 motif of human Polη mediates its interaction with the POLD2 subunit of Polδ and contributes to DNA damage tolerance.
    9. DNA polymerase delta catalytic subunit p125 induced by mutant type p53 is associated with hepatocellular carcinoma invasion.
      Title: Significance of DNA polymerase delta catalytic subunit p125 induced by mutant p53 in the invasive potential of human hepatocellular carcinoma.
    10. Results suggest that POLD2 and KSP37 might be potential prognostic biomarkers.
      Title: POLD2 and KSP37 (FGFBP2) correlate strongly with histology, stage and outcome in ovarian carcinomas.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA replication TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA strand elongation involved in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in error-prone translesion synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of delta DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of delta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of delta DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of zeta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of zeta DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA polymerase delta subunit 2
    Names
    DAN polymerase delta 2, accessory subunit
    DNA polymerase delta subunit p50
    Pol delta B subunit (p50)
    polymerase (DNA directed), delta 2, accessory subunit
    polymerase (DNA directed), delta 2, regulatory subunit 50kDa
    polymerase (DNA) delta 2, accessory subunit
    NP_001120690.1
    NP_001243808.1
    NP_006221.3
    XP_024302570.1
    XP_047276453.1
    XP_047276454.1
    XP_047276455.1
    XP_047276456.1
    XP_047276457.1
    XP_054214434.1
    XP_054214435.1
    XP_054214436.1
    XP_054214437.1
    XP_054214438.1
    XP_054214439.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001127218.3 → NP_001120690.1  DNA polymerase delta subunit 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AK312294, AW732014, BC000459, BP224472
      Consensus CDS
      CCDS5477.1
      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
      UniProtKB/TrEMBL
      A0A8V8TPA6
      Related
      ENSP00000395231.1, ENST00000452185.5
      Conserved Domains (2) summary
      cd07387
      Location:215 → 452
      MPP_PolD2_C; PolD2 (DNA polymerase delta, subunit 2), C-terminal domain
      pfam18018
      Location:49 → 176
      DNA_pol_D_N; DNA polymerase delta subunit OB-fold domain

    2. NM_001256879.2 → NP_001243808.1  DNA polymerase delta subunit 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC006454, AK292347, AW732014, BC000459, DB025069
      Consensus CDS
      CCDS5477.1
      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
      UniProtKB/TrEMBL
      A0A8V8TPA6
      Related
      ENSP00000386105.2, ENST00000406581.6
      Conserved Domains (2) summary
      cd07387
      Location:215 → 452
      MPP_PolD2_C; PolD2 (DNA polymerase delta, subunit 2), C-terminal domain
      pfam18018
      Location:49 → 176
      DNA_pol_D_N; DNA polymerase delta subunit OB-fold domain

    3. NM_006230.4 → NP_006221.3  DNA polymerase delta subunit 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at an upstream start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AC006454
      Consensus CDS
      CCDS5477.1
      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
      UniProtKB/TrEMBL
      A0A8V8TPA6
      Related
      ENSP00000480186.2, ENST00000610533.6
      Conserved Domains (2) summary
      cd07387
      Location:215 → 452
      MPP_PolD2_C; PolD2 (DNA polymerase delta, subunit 2), C-terminal domain
      pfam18018
      Location:49 → 176
      DNA_pol_D_N; DNA polymerase delta subunit OB-fold domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      44114680..44124325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420500.1 → XP_047276456.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
      Related
      ENSP00000406702.2, ENST00000418438.2

    2. XM_047420497.1 → XP_047276453.1  DNA polymerase delta subunit 2 isoform X1

    3. XM_024446802.2 → XP_024302570.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
      UniProtKB/TrEMBL
      A0A8V8TPA6
      Related
      ENSP00000514053.1, ENST00000698947.1
      Conserved Domains (2) summary
      cd07387
      Location:215 → 452
      MPP_PolD2_C; PolD2 (DNA polymerase delta, subunit 2), C-terminal domain
      pfam18018
      Location:49 → 176
      DNA_pol_D_N; DNA polymerase delta subunit OB-fold domain

    4. XM_047420498.1 → XP_047276454.1  DNA polymerase delta subunit 2 isoform X2

    5. XM_047420499.1 → XP_047276455.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
      Related
      ENSP00000514052.1, ENST00000698946.1

    6. XM_047420501.1 → XP_047276457.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44273211..44282858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358463.1 → XP_054214438.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005

    2. XM_054358459.1 → XP_054214434.1  DNA polymerase delta subunit 2 isoform X1

    3. XM_054358462.1 → XP_054214437.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005

    4. XM_054358461.1 → XP_054214436.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005

    5. XM_054358460.1 → XP_054214435.1  DNA polymerase delta subunit 2 isoform X2

    6. XM_054358464.1 → XP_054214439.1  DNA polymerase delta subunit 2 isoform X3

      UniProtKB/Swiss-Prot
      A4D2J4, B2R5S4, P49005
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49005.1 GenPept UniProtKB/Swiss-Prot:P49005

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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