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UniProtKB - Q9UHN1 (DPOG2_HUMAN)

Entry version 180 (02 Jun 2021)
Sequence version 1 (01 May 2000)
Previous versions | rss
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Protein

DNA polymerase subunit gamma-2, mitochondrial

Gene

POLG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mitochondrial polymerase processivity subunit. It regulates the polymerase and exonuclease activities promoting processive DNA synthesis. Binds to ss-DNA.

1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processDNA replication

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.7.7, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UHN1

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UHN1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA polymerase subunit gamma-2, mitochondrial
Alternative name(s):
DNA polymerase gamma accessory 55 kDa subunit
Short name:
p55
Mitochondrial DNA polymerase accessory subunit
MtPolB
PolG-beta
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:POLG2
Synonyms:MTPOLB
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9180, POLG2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604983, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UHN1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000256525.6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029364451G → E in PEOA4; affects stimulation of the catalytic subunit. 1 PublicationCorresponds to variant dbSNP:rs104894632EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 16, hepatic type (MTDPS16)2 Publications
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by poor feeding, difficulty breathing, abdominal distention, an abnormal carnitine profile, metabolic acidosis and hepatic failure in the neonatal period. Severe mtDNA depletion is observed in liver and muscle biopsies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078773182R → W in MTDPS16; decreased function in mitochondrial DNA replication; decreased protein stability; no effect on DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886037843EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

More...DisGeNETi		11232

MalaCards human disease database

More...MalaCardsi		POLG2
MIMi610131, phenotype
618528, phenotype

Open Targets

More...OpenTargetsi		ENSG00000256525

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		254892, Autosomal dominant progressive external ophthalmoplegia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33501

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UHN1, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3430903

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		POLG2

Domain mapping of disease mutations (DMDM)

More...DMDMi		17367139

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – ?MitochondrionSequence analysis
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000007314? – 485DNA polymerase subunit gamma-2, mitochondrial

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei38PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UHN1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UHN1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UHN1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UHN1

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9UHN1

PeptideAtlas

More...PeptideAtlasi		Q9UHN1

PRoteomics IDEntifications database

More...PRIDEi		Q9UHN1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		84382

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UHN1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9UHN1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000256525, Expressed in small intestine Peyer's patch and 218 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UHN1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UHN1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000256525, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116398, 15 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2093, Mitochondrial DNA polymerase gamma complex

Protein interaction database and analysis system

More...IntActi		Q9UHN1, 14 interactors

Molecular INTeraction database

More...MINTi		Q9UHN1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000442563

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UHN1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1485
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9UHN1

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9UHN1

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni28 – 65DisorderedSequence analysisAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi38 – 54Basic and acidic residuesSequence analysisAdd BLAST17

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2298, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153759

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_055833_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UHN1

Identification of Orthologs from Complete Genome Data

More...OMAi		GGHVKSH

Database of Orthologous Groups

More...OrthoDBi		1183820at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UHN1

TreeFam database of animal gene trees

More...TreeFami		TF103005

Family and domain databases

Conserved Domains Database

More...CDDi		cd02426, Pol_gamma_b_Cterm, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.800, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004154, Anticodon-bd
IPR036621, Anticodon-bd_dom_sf
IPR027031, Gly-tRNA_synthase/POLG2
IPR027030, POLG2
IPR042064, POLG2_C

The PANTHER Classification System

More...PANTHERi		PTHR10745, PTHR10745, 1 hit
PTHR10745:SF8, PTHR10745:SF8, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03129, HGTP_anticodon, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q9UHN1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRSRVAVRAC HKVCRCLLSG FGGRVDAGQP ELLTERSSPK GGHVKSHAEL 
        60         70         80         90        100
EGNGEHPEAP GSGEGSEALL EICQRRHFLS GSKQQLSRDS LLSGCHPGFG 
       110        120        130        140        150
PLGVELRKNL AAEWWTSVVV FREQVFPVDA LHHKPGPLLP GDSAFRLVSA 
       160        170        180        190        200
ETLREILQDK ELSKEQLVAF LENVLKTSGK LRENLLHGAL EHYVNCLDLV 
       210        220        230        240        250
NKRLPYGLAQ IGVCFHPVFD TKQIRNGVKS IGEKTEASLV WFTPPRTSNQ 
       260        270        280        290        300
WLDFWLRHRL QWWRKFAMSP SNFSSSDCQD EEGRKGNKLY YNFPWGKELI 
       310        320        330        340        350
ETLWNLGDHE LLHMYPGNVS KLHGRDGRKN VVPCVLSVNG DLDRGMLAYL 
       360        370        380        390        400
YDSFQLTENS FTRKKNLHRK VLKLHPCLAP IKVALDVGRG PTLELRQVCQ 
       410        420        430        440        450
GLFNELLENG ISVWPGYLET MQSSLEQLYS KYDEMSILFT VLVTETTLEN 
       460        470        480 
GLIHLRSRDT TMKEMMHISK LKDFLIKYIS SAKNV
Length:485
Mass (Da):54,911
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB99734BFEA249192
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A5F9ZH93A0A5F9ZH93_HUMAN
DNA polymerase subunit gamma-2, mit...
POLG2
342Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZHX9A0A5F9ZHX9_HUMAN
DNA polymerase subunit gamma-2, mit...
POLG2
395Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRM2J3KRM2_HUMAN
DNA polymerase subunit gamma-2, mit...
POLG2
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRU9J3QRU9_HUMAN
DNA polymerase subunit gamma-2, mit...
POLG2
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti114 – 124WWTSVVVFREQ → MVDLGGGVHGA in AAC51321 (PubMed:9153213).CuratedAdd BLAST11
Sequence conflicti122R → T in AAD56542 (PubMed:10677218).Curated1
Sequence conflicti136G → S in AAD56542 (PubMed:10677218).Curated1
Sequence conflicti136G → S in AAC51321 (PubMed:9153213).Curated1
Sequence conflicti287 – 292NKLYYN → TNFTTI in AAC51321 (PubMed:9153213).Curated6

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032028169A → T2 PublicationsCorresponds to variant dbSNP:rs1427463EnsemblClinVar.1
Natural variantiVAR_078773182R → W in MTDPS16; decreased function in mitochondrial DNA replication; decreased protein stability; no effect on DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886037843EnsemblClinVar.1
Natural variantiVAR_032029416G → A No functional deficit. 2 PublicationsCorresponds to variant dbSNP:rs17850455EnsemblClinVar.1
Natural variantiVAR_029364451G → E in PEOA4; affects stimulation of the catalytic subunit. 1 PublicationCorresponds to variant dbSNP:rs104894632EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF142992 mRNA Translation: AAD50382.1
AF177201 mRNA Translation: AAD56640.1
AF184344 mRNA Translation: AAD56542.1
BC000913 mRNA Translation: AAH00913.2
BC009194 mRNA Translation: AAH09194.1
U94703 mRNA Translation: AAC51321.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32706.1

NCBI Reference Sequences

More...RefSeqi		NP_009146.2, NM_007215.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000539111; ENSP00000442563; ENSG00000256525

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11232

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11232

UCSC genome browser

More...UCSCi		uc002jei.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF142992 mRNA Translation: AAD50382.1
AF177201 mRNA Translation: AAD56640.1
AF184344 mRNA Translation: AAD56542.1
BC000913 mRNA Translation: AAH00913.2
BC009194 mRNA Translation: AAH09194.1
U94703 mRNA Translation: AAC51321.1
CCDSiCCDS32706.1
RefSeqiNP_009146.2, NM_007215.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2G4CX-ray3.15A/B/C/D26-485[»]
3IKLX-ray3.10A/B1-146[»]
A/B181-485[»]
3IKMX-ray3.24B/C/E/F59-485[»]
4ZTUX-ray3.30B/C26-485[»]
4ZTZX-ray3.44B/C26-485[»]
5C51X-ray3.43B/C1-485[»]
5C52X-ray3.64B/C1-485[»]
5C53X-ray3.57B/C1-485[»]
SMRiQ9UHN1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116398, 15 interactors
ComplexPortaliCPX-2093, Mitochondrial DNA polymerase gamma complex
IntActiQ9UHN1, 14 interactors
MINTiQ9UHN1
STRINGi9606.ENSP00000442563

Chemistry databases

ChEMBLiCHEMBL3430903

PTM databases

iPTMnetiQ9UHN1
PhosphoSitePlusiQ9UHN1

Genetic variation databases

BioMutaiPOLG2
DMDMi17367139

Proteomic databases

EPDiQ9UHN1
jPOSTiQ9UHN1
MassIVEiQ9UHN1
MaxQBiQ9UHN1
PaxDbiQ9UHN1
PeptideAtlasiQ9UHN1
PRIDEiQ9UHN1
ProteomicsDBi84382

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		50586, 155 antibodies

The DNASU plasmid repository

More...DNASUi		11232

Genome annotation databases

EnsembliENST00000539111; ENSP00000442563; ENSG00000256525
GeneIDi11232
KEGGihsa:11232
UCSCiuc002jei.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11232
DisGeNETi11232

GeneCards: human genes, protein and diseases

More...GeneCardsi		POLG2
HGNCiHGNC:9180, POLG2
HPAiENSG00000256525, Low tissue specificity
MalaCardsiPOLG2
MIMi604983, gene
610131, phenotype
618528, phenotype
neXtProtiNX_Q9UHN1
OpenTargetsiENSG00000256525
Orphaneti254892, Autosomal dominant progressive external ophthalmoplegia
PharmGKBiPA33501
VEuPathDBiHostDB:ENSG00000256525.6

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2298, Eukaryota
GeneTreeiENSGT00940000153759
HOGENOMiCLU_055833_0_0_1
InParanoidiQ9UHN1
OMAiGGHVKSH
OrthoDBi1183820at2759
PhylomeDBiQ9UHN1
TreeFamiTF103005

Enzyme and pathway databases

BRENDAi2.7.7.7, 2681
PathwayCommonsiQ9UHN1
ReactomeiR-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
SIGNORiQ9UHN1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11232, 285 hits in 1001 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		POLG2, human
EvolutionaryTraceiQ9UHN1

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		POLG2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		11232
PharosiQ9UHN1, Tbio

Protein Ontology

More...PROi		PR:Q9UHN1
RNActiQ9UHN1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000256525, Expressed in small intestine Peyer's patch and 218 other tissues
ExpressionAtlasiQ9UHN1, baseline and differential
GenevisibleiQ9UHN1, HS

Family and domain databases

CDDicd02426, Pol_gamma_b_Cterm, 1 hit
Gene3Di3.40.50.800, 1 hit
InterProiView protein in InterPro
IPR004154, Anticodon-bd
IPR036621, Anticodon-bd_dom_sf
IPR027031, Gly-tRNA_synthase/POLG2
IPR027030, POLG2
IPR042064, POLG2_C
PANTHERiPTHR10745, PTHR10745, 1 hit
PTHR10745:SF8, PTHR10745:SF8, 1 hit
PfamiView protein in Pfam
PF03129, HGTP_anticodon, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDPOG2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UHN1
Secondary accession number(s): O00419
, Q0IJ81, Q96GW2, Q9UK35, Q9UK94
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: June 2, 2021
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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