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

Summary

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; POLD4; 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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Endothelial Poldip2 regulates sepsis-induced lung injury via Rho pathway activation.
Title: Endothelial Poldip2 regulates sepsis-induced lung injury via Rho pathway activation.
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.
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.
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.
[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].
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.
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.
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 EBI GWAS CatalogPubMed

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

RH17855 (e-PCR)
- UniSTS:89172

POLDIP2_3570 (e-PCR)
- UniSTS:462425

RH64911 (e-PCR)
- UniSTS:90336

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 more info	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)

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
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