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Protein

DNA polymerase subunit gamma-2, mitochondrial

Gene

POLG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • DNA-directed DNA polymerase activity Source: GO_Central
  • identical protein binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase
Biological processDNA replication

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
DNA polymerase subunit gamma-2, mitochondrial (EC:2.7.7.7)
Alternative name(s):
DNA polymerase gamma accessory 55 kDa subunit
Short name:
p55
Mitochondrial DNA polymerase accessory subunit
MtPolB
PolG-beta
Gene namesi
Name:POLG2
Synonyms:MTPOLB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000256525.6
HGNCiHGNC:9180 POLG2
MIMi604983 gene
neXtProtiNX_Q9UHN1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4)1 Publication
The disease is caused by mutations 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.
See also OMIM:610131
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029364451G → E in PEOA4; affects stimulation of the catalytic subunit. 1 PublicationCorresponds to variant dbSNP:rs104894632EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi11232
MalaCardsiPOLG2
MIMi610131 phenotype
OpenTargetsiENSG00000256525
Orphaneti254892 Autosomal dominant progressive external ophthalmoplegia
PharmGKBiPA33501

Chemistry databases

ChEMBLiCHEMBL3430903

Polymorphism and mutation databases

BioMutaiPOLG2
DMDMi17367139

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000007314? – 485DNA polymerase subunit gamma-2, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UHN1
MaxQBiQ9UHN1
PaxDbiQ9UHN1
PeptideAtlasiQ9UHN1
PRIDEiQ9UHN1
ProteomicsDBi84382

PTM databases

iPTMnetiQ9UHN1
PhosphoSitePlusiQ9UHN1

Expressioni

Gene expression databases

BgeeiENSG00000256525 Expressed in 205 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_POLG2
ExpressionAtlasiQ9UHN1 baseline and differential
GenevisibleiQ9UHN1 HS

Organism-specific databases

HPAiCAB017030
HPA023202

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
POLGP5409810EBI-852642,EBI-852624

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116398, 14 interactors
ComplexPortaliCPX-2093 DNA polymerase gamma complex
IntActiQ9UHN1, 8 interactors
MINTiQ9UHN1
STRINGi9606.ENSP00000442563

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ9UHN1
SMRiQ9UHN1
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHN1

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2298 Eukaryota
COG0423 LUCA
GeneTreeiENSGT00390000000244
HOGENOMiHOG000049133
HOVERGENiHBG051401
InParanoidiQ9UHN1
KOiK02333
OMAiNFPWGKE
OrthoDBiEOG091G0B28
PhylomeDBiQ9UHN1
TreeFamiTF103005

Family and domain databases

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
PANTHERiPTHR10745 PTHR10745, 1 hit
PTHR10745:SF8 PTHR10745:SF8, 1 hit
PfamiView protein in Pfam
PF03129 HGTP_anticodon, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 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
Checksum:iB99734BFEA249192
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRU9J3QRU9_HUMAN
DNA polymerase subunit gamma-2, mit...
POLG2
81Annotation score:
J3KRM2J3KRM2_HUMAN
DNA polymerase subunit gamma-2, mit...
POLG2
151Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Probable disease-associated mutation found in a patient with fulminant hepatic failure and mitochondrial DNA depletion. 1 PublicationCorresponds to variant dbSNP:rs886037843EnsemblClinVar.1
Natural variantiVAR_032029416G → A Polymorphism; 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:
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
UniGeneiHs.437009

Genome annotation databases

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

Similar proteinsi

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
UniGeneiHs.437009

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ9UHN1
SMRiQ9UHN1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116398, 14 interactors
ComplexPortaliCPX-2093 DNA polymerase gamma complex
IntActiQ9UHN1, 8 interactors
MINTiQ9UHN1
STRINGi9606.ENSP00000442563

Chemistry databases

ChEMBLiCHEMBL3430903

PTM databases

iPTMnetiQ9UHN1
PhosphoSitePlusiQ9UHN1

Polymorphism and mutation databases

BioMutaiPOLG2
DMDMi17367139

Proteomic databases

EPDiQ9UHN1
MaxQBiQ9UHN1
PaxDbiQ9UHN1
PeptideAtlasiQ9UHN1
PRIDEiQ9UHN1
ProteomicsDBi84382

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi11232
DisGeNETi11232
EuPathDBiHostDB:ENSG00000256525.6
GeneCardsiPOLG2
HGNCiHGNC:9180 POLG2
HPAiCAB017030
HPA023202
MalaCardsiPOLG2
MIMi604983 gene
610131 phenotype
neXtProtiNX_Q9UHN1
OpenTargetsiENSG00000256525
Orphaneti254892 Autosomal dominant progressive external ophthalmoplegia
PharmGKBiPA33501
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2298 Eukaryota
COG0423 LUCA
GeneTreeiENSGT00390000000244
HOGENOMiHOG000049133
HOVERGENiHBG051401
InParanoidiQ9UHN1
KOiK02333
OMAiNFPWGKE
OrthoDBiEOG091G0B28
PhylomeDBiQ9UHN1
TreeFamiTF103005

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiPOLG2 human
EvolutionaryTraceiQ9UHN1
GeneWikiiPOLG2
GenomeRNAii11232
PROiPR:Q9UHN1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000256525 Expressed in 205 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_POLG2
ExpressionAtlasiQ9UHN1 baseline and differential
GenevisibleiQ9UHN1 HS

Family and domain databases

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
PANTHERiPTHR10745 PTHR10745, 1 hit
PTHR10745:SF8 PTHR10745:SF8, 1 hit
PfamiView protein in Pfam
PF03129 HGTP_anticodon, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDPOG2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHN1
Secondary accession number(s): O00419
, Q0IJ81, Q96GW2, Q9UK35, Q9UK94
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 165 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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