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POLDIP2 DNA polymerase delta interacting protein 2 [ Homo sapiens (human) ]

Gene ID: 26073, updated on 21-Dec-2024

Summary

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Official Symbol
POLDIP2provided by HGNC
Official Full Name
DNA polymerase delta interacting protein 2provided by HGNC
Primary source
HGNC:HGNC:23781
See related
Ensembl:ENSG00000004142 MIM:611519; AllianceGenome:HGNC:23781
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
Also known as
p38; PDIP38
Summary
This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in kidney (RPKM 32.9), adrenal (RPKM 29.4) and 25 other tissues See more
Orthologs
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Genomic context

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See POLDIP2 in Genome Data Viewer
Location:
17q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28346633..28357527, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29288484..29299376, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26673659..26684550, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 55 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:26609113-26610312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26644505-26645330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11921 Neighboring gene transmembrane protein 97 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11922 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26662195-26662386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8335 Neighboring gene intraflagellar transport 20 Neighboring gene TNF alpha induced protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26671214-26671717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26672221-26672724 Neighboring gene uncharacterized LOC124903963 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:26683953-26684715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11924 Neighboring gene transmembrane protein 199 Neighboring gene microRNA 4723 Neighboring gene SEBOX homeobox

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Further characterization of human DNA polymerase delta interacting protein 38. Xie B, et al. J Biol Chem, 2005 Jun 10. PMID 15811854
  2. A Multifunctional Protein PolDIP2 in DNA Translesion Synthesis. Gagarinskaya DI, et al. Adv Exp Med Biol, 2020. PMID 32383114
  3. PDIP38/PolDIP2 controls the DNA damage tolerance pathways by increasing the relative usage of translesion DNA synthesis over template switching. Tsuda M, et al. PLoS One, 2019. PMID 30840704, Free PMC Article
  4. PDIP38 is translocated to the spliceosomes/nuclear speckles in response to UV-induced DNA damage and is required for UV-induced alternative splicing of MDM2. Wong A, et al. Cell Cycle, 2013 Oct 1. PMID 23989611, Free PMC Article
  5. Knockout of AMD-associated gene POLDIP2 reduces mitochondrial superoxide in human retinal pigment epithelial cells. Nguyen T, et al. Aging (Albany NY), 2023 Feb 16. PMID 36795578, Free PMC Article

See all (113) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockout of AMD-associated gene POLDIP2 reduces mitochondrial superoxide in human retinal pigment epithelial cells.
    Title: Knockout of AMD-associated gene POLDIP2 reduces mitochondrial superoxide in human retinal pigment epithelial cells.
  2. Metabolic regulation of the proteasome under hypoxia by Poldip2 controls fibrotic signaling in vascular smooth muscle cells.
    Title: Metabolic regulation of the proteasome under hypoxia by Poldip2 controls fibrotic signaling in vascular smooth muscle cells.
  3. Endothelial Poldip2 regulates sepsis-induced lung injury via Rho pathway activation.
    Title: Endothelial Poldip2 regulates sepsis-induced lung injury via Rho pathway activation.
  4. Poldip2/Nox4 Mediates Lipopolysaccharide-Induced Oxidative Stress and Inflammation in Human Lung Epithelial Cells.
    Title: Poldip2/Nox4 Mediates Lipopolysaccharide-Induced Oxidative Stress and Inflammation in Human Lung Epithelial Cells.
  5. Crystal structure and molecular dynamics of human POLDIP2, a multifaceted adaptor protein in metabolism and genome stability.
    Title: Crystal structure and molecular dynamics of human POLDIP2, a multifaceted adaptor protein in metabolism and genome stability.
  6. MIR31HG regulates the proliferation, migration and invasion of breast cancer by regulating the expression of POLDIP2.
    Title: MIR31HG regulates the proliferation, migration and invasion of breast cancer by regulating the expression of POLDIP2.
  7. [PolDIP2 regulates mitochondrial functioning and cellular metabolism].", trans "PolDIP2, une proteine cle de la regulation du fonctionnement mitochondrial et du metabolisme cellulaire.
    Title: [PolDIP2 regulates mitochondrial functioning and cellular metabolism].
  8. Human Polymerase delta-Interacting Protein 2 (PolDIP2) Inhibits the Formation of Human Tau Oligomers and Fibrils.
    Title: Human Polymerase δ-Interacting Protein 2 (PolDIP2) Inhibits the Formation of Human Tau Oligomers and Fibrils.
  9. Poldip2 deficiency in human aortic vascular smooth muscle in vitro induces the expression of the SRF , myocardin, and MRTFA and dramatically represses KLF4. Poldip2 deficiency upregulates the hexosamine biosynthetic pathway and OGT (O-linked N-acetylglucosamine transferase)-mediated protein O-GlcNAcylation. Poldip2 deficiency induces a highly differentiated phenotype in VSMCs by regulating metabolism and proteostasis.
    Title: Mitochondrial Protein Poldip2 (Polymerase Delta Interacting Protein 2) Controls Vascular Smooth Muscle Differentiated Phenotype by O-Linked GlcNAc (N-Acetylglucosamine) Transferase-Dependent Inhibition of a Ubiquitin Proteasome System.
  10. functional interaction of PolDIP2 with human DNA polymerases and the possible functions in DNA damage response
    Title: A Multifunctional Protein PolDIP2 in DNA Translesion Synthesis.
Submit: New GeneRIF Correction See all GeneRIFs (26)

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

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp586F1524

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 error-free translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in error-free translesion synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrion organization IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic spindle assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of macroautophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of mitotic cytokinesis IEA
Inferred from Electronic Annotation
more info
  
involved_in vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell-cell junction IEA
Inferred from Electronic Annotation
more info
  
located_in midbody IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in mitochondrial nucleoid IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitotic spindle IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polymerase delta-interacting protein 2
Names
38 kDa DNA polymerase delta interaction protein
polymerase (DNA) delta interacting protein 2
polymerase (DNA-directed), delta interacting protein 2
polymerase delta interacting protein 38

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_001290145.2 → NP_001277074.1  polymerase delta-interacting protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001277074.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC000655, BG150599, BM809398, HY130221
    Consensus CDS
    CCDS76978.1
    UniProtKB/TrEMBL
    A0A087WT81, B4DEM9
    Related
    ENSP00000477665.2, ENST00000618887.2
    Conserved Domains (2) summary
    cl01119
    Location:216 → 337
    DUF525; Protein of unknown function (DUF525)
    cl01548
    Location:111 → 182
    YccV-like; Hemimethylated DNA-binding protein YccV like

  2. NM_015584.5 → NP_056399.1  polymerase delta-interacting protein 2 isoform 1

    See identical proteins and their annotated locations for NP_056399.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC000655, BG150599, BM809398, HY130221
    Consensus CDS
    CCDS74018.1
    UniProtKB/Swiss-Prot
    B2R846, Q96JE4, Q9Y2S7
    Related
    ENSP00000475924.2, ENST00000540200.6
    Conserved Domains (2) summary
    cl01119
    Location:234 → 355
    DUF525; Protein of unknown function (DUF525)
    cl01548
    Location:74 → 200
    YccV-like; Hemimethylated DNA-binding protein YccV like

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28346633..28357527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29288484..29299376 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2S7.1 GenPept UniProtKB/Swiss-Prot:Q9Y2S7

Gene LinkOut

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