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

Gene ID: 23649, updated on 11-Apr-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, synthesis of RNA primer. Located in cytosol and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 4.3), appendix (RPKM 2.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65261962..65305985)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65255287..65299590)
105.20220307 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. CircRNA circ_POLA2 overexpression suppresses cell apoptosis by downregulating PTEN in glioblastoma. Xie F, et al. Anticancer Drugs, 2023 Jun 1. PMID 36730613
  2. 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
  3. Knockdown of POLA2 increases gemcitabine resistance in lung cancer cells. Koh V, et al. BMC Genomics, 2016 Dec 22. PMID 28155658, Free PMC Article
  4. 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
  5. Cell cycle-dependent phosphorylation of human DNA polymerase alpha. Nasheuer HP, et al. J Biol Chem, 1991 Apr 25. PMID 1902230

See all (75) 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)

Genotypes

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 molecular_function ND
No biological Data available
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)

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_2023_10

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

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