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    POLA2 DNA polymerase alpha 2, accessory subunit [ Homo sapiens (human) ]

    Gene ID: 23649, updated on 14-Nov-2024

    Summary

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    Official Symbol
    POLA2provided by HGNC
    Official Full Name
    DNA polymerase alpha 2, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:30073
    See related
    Ensembl:ENSG00000014138 MIM:620063; AllianceGenome:HGNC:30073
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA binding activity. Involved in DNA replication initiation and DNA replication, synthesis of primer. Located in cytosol and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.3), appendix (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLA2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65261962..65305985)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65255287..65299590)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65029433..65066156)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr11:64949086-64949875 and GRCh37_chr11:64949876-64950664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64950665-64951454 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:64952638-64953204 Neighboring gene CAPN1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64953771-64954337 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64955709-64956255 Neighboring gene calpain 1 Neighboring gene MPRA-validated peak1300 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64971432-64972419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4949 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64976880-64978079 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64978770-64978973 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64980323-64981239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64981240-64982155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64984183-64984746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64984747-64985310 Neighboring gene solute carrier family 22 member 20, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64989237-64989466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4951 Neighboring gene MPRA-validated peak1301 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:65011321-65011846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65028571-65029458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65029459-65030344 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65046741-65047940 Neighboring gene uncharacterized LOC105369344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65068776-65069313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65069314-65069850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65077439-65078046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65078047-65078654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3515 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65086579-65086802 Neighboring gene CDC42 effector protein 2 Neighboring gene uncharacterized LOC124902691

    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
    • 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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    Related articles in PubMed

    1. Knockdown of POLA2 increases gemcitabine resistance in lung cancer cells. Koh V, et al. BMC Genomics, 2016 Dec 22. PMID 28155658, Free PMC Article
    2. Cell cycle-dependent phosphorylation of human DNA polymerase alpha. Nasheuer HP, et al. J Biol Chem, 1991 Apr 25. PMID 1902230
    3. Novel SNP improves differential survivability and mortality in non-small cell lung cancer patients. Mah TL, et al. BMC Genomics, 2014. PMID 25521664, Free PMC Article
    4. Involvement of POLA2 in Double Strand Break Repair and Genotoxic Stress. Dang TT, et al. Int J Mol Sci, 2020 Jun 15. PMID 32549188, Free PMC Article
    5. CircRNA circ_POLA2 overexpression suppresses cell apoptosis by downregulating PTEN in glioblastoma. Xie F, et al. Anticancer Drugs, 2023 Jun 1. PMID 36730613

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircRNA circ_POLA2 overexpression suppresses cell apoptosis by downregulating PTEN in glioblastoma.
      Title: CircRNA circ_POLA2 overexpression suppresses cell apoptosis by downregulating PTEN in glioblastoma.
    2. Involvement of POLA2 in Double Strand Break Repair and Genotoxic Stress.
      Title: Involvement of POLA2 in Double Strand Break Repair and Genotoxic Stress.
    3. STN1-POLA2 interaction provides a basis for primase-polymerase alpha stimulation by human STN1.
      Title: STN1-POLA2 interaction provides a basis for primase-pol α stimulation by human STN1.
    4. our findings showed that knockdown of POLA2 increases gemcitabine resistance in human lung cancer cells. We propose that POLA2 may play a role in gemcitabine sensitivity and can be used as a prognostic biomarker of patient outcome in NSCLC pathogenesis.
      Title: Knockdown of POLA2 increases gemcitabine resistance in lung cancer cells.
    5. POLA2+1747 GG/GA may be used as a prognostic biomarker of patient outcome in NSCLC pathogenesis
      Title: Novel SNP improves differential survivability and mortality in non-small cell lung cancer patients.
    6. Findings indicate that tethering of primase to the replisome by DNA polymerase alpha (pol alpha) is critical for the normal action of DNA replication forks in eukaryotic cells.
      Title: A conserved motif in the C-terminal tail of DNA polymerase α tethers primase to the eukaryotic replisome.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    8. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
    Submit: New GeneRIF Correction

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ21662, FLJ37250

    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 replication NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA replication initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA replication, synthesis of primer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of alpha DNA polymerase:primase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of alpha DNA polymerase:primase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of alpha DNA polymerase:primase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA polymerase alpha subunit B
    Names
    DNA polymerase alpha 70 kDa subunit
    polymerase (DNA directed), alpha 2 (70kD subunit)
    polymerase (DNA directed), alpha 2, accessory subunit
    polymerase (DNA) alpha 2, accessory subunit
    polymerase (DNA-directed), alpha (70kD)
    NP_002680.2
    XP_011543179.1
    XP_011543180.1
    XP_011543181.1
    XP_011543183.1
    XP_016872941.1
    XP_054224228.1
    XP_054224229.1
    XP_054224230.1
    XP_054224231.1
    XP_054224232.1

    NCBI Reference Sequences (RefSeq)

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    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_002689.4 → NP_002680.2  DNA polymerase alpha subunit B

      See identical proteins and their annotated locations for NP_002680.2

      Status: VALIDATED

      Source sequence(s)
      AP000944, BC001347
      Consensus CDS
      CCDS8098.1
      UniProtKB/Swiss-Prot
      B4DNB4, Q14181, Q9BPV3
      UniProtKB/TrEMBL
      A0A9L9PX14
      Related
      ENSP00000265465.3, ENST00000265465.8
      Conserved Domains (2) summary
      COG5214
      Location:206 → 583
      POL12; DNA polymerase alpha-primase complex, polymerase-associated subunit B [DNA replication, recombination, and repair]
      pfam08418
      Location:111 → 238
      Pol_alpha_B_N; DNA polymerase alpha subunit B N-terminal

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65261962..65305985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544877.4 → XP_011543179.1  DNA polymerase alpha subunit B isoform X1

      UniProtKB/TrEMBL
      A0A9L9PX14, H0YDR7
      Related
      ENSP00000434173.2, ENST00000525924.2
      Conserved Domains (2) summary
      pfam04042
      Location:343 → 549
      DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
      pfam08418
      Location:111 → 238
      Pol_alpha_B_N; DNA polymerase alpha subunit B N-terminal

    2. XM_011544878.4 → XP_011543180.1  DNA polymerase alpha subunit B isoform X3

      UniProtKB/TrEMBL
      A0A9L9PX14
      Conserved Domains (2) summary
      pfam04042
      Location:343 → 549
      DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
      pfam08418
      Location:115 → 238
      Pol_alpha_B_N; DNA polymerase alpha subunit B N-terminal

    3. XM_017017452.3 → XP_016872941.1  DNA polymerase alpha subunit B isoform X2

      UniProtKB/TrEMBL
      A0A9L9PX14

    4. XM_011544879.3 → XP_011543181.1  DNA polymerase alpha subunit B isoform X4

      See identical proteins and their annotated locations for XP_011543181.1

      UniProtKB/TrEMBL
      A0A9L9PX14, A0A9L9PY44
      Related
      ENSP00000516440.1, ENST00000706538.1
      Conserved Domains (2) summary
      pfam04042
      Location:343 → 512
      DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
      pfam08418
      Location:115 → 238
      Pol_alpha_B_N; DNA polymerase alpha subunit B N-terminal

    5. XM_011544881.4 → XP_011543183.1  DNA polymerase alpha subunit B isoform X4

      See identical proteins and their annotated locations for XP_011543183.1

      UniProtKB/TrEMBL
      A0A9L9PX14, A0A9L9PY44
      Related
      ENSP00000516439.1, ENST00000706537.1
      Conserved Domains (2) summary
      pfam04042
      Location:343 → 512
      DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
      pfam08418
      Location:115 → 238
      Pol_alpha_B_N; DNA polymerase alpha subunit B N-terminal

    RNA

    1. XR_007062468.1 RNA Sequence

    2. XR_007062469.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65255287..65299590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368253.1 → XP_054224228.1  DNA polymerase alpha subunit B isoform X1

      UniProtKB/TrEMBL
      H0YDR7

    2. XM_054368255.1 → XP_054224230.1  DNA polymerase alpha subunit B isoform X3

    3. XM_054368256.1 → XP_054224231.1  DNA polymerase alpha subunit B isoform X4

      UniProtKB/TrEMBL
      A0A9L9PY44

    4. XM_054368254.1 → XP_054224229.1  DNA polymerase alpha subunit B isoform X2

    5. XM_054368257.1 → XP_054224232.1  DNA polymerase alpha subunit B isoform X4

      UniProtKB/TrEMBL
      A0A9L9PY44
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14181.2 GenPept UniProtKB/Swiss-Prot:Q14181

    Gene LinkOut

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

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