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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-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: ProtInc
  • glycine-tRNA ligase activity Source: GO_Central

GO - Biological processi

  • DNA-dependent DNA replication Source: ProtInc
  • DNA repair Source: UniProtKB
  • DNA replication Source: UniProtKB
  • glycyl-tRNA aminoacylation Source: GO_Central
  • in utero embryonic development Source: Ensembl
  • mitochondrial DNA metabolic process Source: Ensembl
  • mitochondrion morphogenesis Source: Ensembl
  • mitochondrion organization Source: Reactome
  • respiratory electron transport chain Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase

Keywords - Biological processi

DNA replication

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:HS06166-MONOMER.
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

HGNCiHGNC:9180. POLG2.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrial chromosome Source: ProtInc
  • mitochondrial matrix Source: Reactome
  • mitochondrial nucleoid Source: BHF-UCL
Complete GO annotation...

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 rs104894632dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Progressive external ophthalmoplegia

Organism-specific databases

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

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.

PTM databases

iPTMnetiQ9UHN1.
PhosphoSitePlusiQ9UHN1.

Expressioni

Gene expression databases

BgeeiENSG00000256525.
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

Protein-protein interaction databases

BioGridi116398. 14 interactors.
IntActiQ9UHN1. 8 interactors.
STRINGi9606.ENSP00000442563.

Structurei

Secondary structure

1485
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi60 – 66Combined sources7
Helixi69 – 75Combined sources7
Beta strandi78 – 80Combined sources3
Turni83 – 86Combined sources4
Helixi88 – 92Combined sources5
Helixi101 – 118Combined sources18
Turni119 – 122Combined sources4
Beta strandi125 – 127Combined sources3
Beta strandi132 – 134Combined sources3
Turni135 – 137Combined sources3
Beta strandi138 – 141Combined sources4
Beta strandi146 – 149Combined sources4
Helixi150 – 153Combined sources4
Helixi154 – 156Combined sources3
Beta strandi157 – 159Combined sources3
Turni161 – 165Combined sources5
Helixi166 – 168Combined sources3
Helixi171 – 177Combined sources7
Beta strandi179 – 181Combined sources3
Helixi186 – 192Combined sources7
Turni193 – 197Combined sources5
Helixi198 – 200Combined sources3
Beta strandi203 – 215Combined sources13
Beta strandi224 – 226Combined sources3
Beta strandi233 – 243Combined sources11
Helixi245 – 247Combined sources3
Helixi248 – 266Combined sources19
Helixi270 – 272Combined sources3
Beta strandi273 – 278Combined sources6
Beta strandi281 – 284Combined sources4
Beta strandi286 – 292Combined sources7
Beta strandi297 – 305Combined sources9
Helixi309 – 314Combined sources6
Beta strandi319 – 322Combined sources4
Beta strandi325 – 328Combined sources4
Beta strandi334 – 341Combined sources8
Helixi342 – 351Combined sources10
Turni359 – 361Combined sources3
Beta strandi362 – 364Combined sources3
Turni376 – 378Combined sources3
Beta strandi379 – 381Combined sources3
Beta strandi383 – 389Combined sources7
Helixi395 – 408Combined sources14
Beta strandi413 – 415Combined sources3
Helixi416 – 418Combined sources3
Beta strandi419 – 421Combined sources3
Helixi426 – 432Combined sources7
Helixi433 – 435Combined sources3
Beta strandi438 – 443Combined sources6
Helixi445 – 448Combined sources4
Beta strandi450 – 457Combined sources8
Turni458 – 460Combined sources3
Beta strandi464 – 467Combined sources4
Helixi470 – 484Combined sources15

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...

Miscellaneous databases

EvolutionaryTraceiQ9UHN1.

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.50.800. 1 hit.
InterProiIPR004154. Anticodon-bd.
IPR027031. Gly-tRNA_synthase/POLG2.
IPR027030. POLG2.
[Graphical view]
PANTHERiPTHR10745. PTHR10745. 1 hit.
PTHR10745:SF8. PTHR10745:SF8. 1 hit.
PfamiPF03129. HGTP_anticodon. 1 hit.
[Graphical view]
SUPFAMiSSF52954. SSF52954. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

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 → T.2 PublicationsCorresponds to variant rs1427463dbSNPEnsembl.1
Natural variantiVAR_032029416G → A There is no functional deficit. 2 PublicationsCorresponds to variant rs17850455dbSNPEnsembl.1
Natural variantiVAR_029364451G → E in PEOA4; affects stimulation of the catalytic subunit. 1 PublicationCorresponds to variant rs104894632dbSNPEnsembl.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.

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.
IntActiQ9UHN1. 8 interactors.
STRINGi9606.ENSP00000442563.

PTM databases

iPTMnetiQ9UHN1.
PhosphoSitePlusiQ9UHN1.

Polymorphism and mutation databases

BioMutaiPOLG2.
DMDMi17367139.

Proteomic databases

EPDiQ9UHN1.
MaxQBiQ9UHN1.
PaxDbiQ9UHN1.
PeptideAtlasiQ9UHN1.
PRIDEiQ9UHN1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi11232.
DisGeNETi11232.
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.
OMAiLYYNFPW.
OrthoDBiEOG091G0B28.
PhylomeDBiQ9UHN1.
TreeFamiTF103005.

Enzyme and pathway databases

BioCyciZFISH:HS06166-MONOMER.
BRENDAi2.7.7.7. 2681.
ReactomeiR-HSA-2151201. Transcriptional activation of mitochondrial biogenesis.

Miscellaneous databases

ChiTaRSiPOLG2. human.
EvolutionaryTraceiQ9UHN1.
GeneWikiiPOLG2.
GenomeRNAii11232.
PROiQ9UHN1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000256525.
CleanExiHS_POLG2.
ExpressionAtlasiQ9UHN1. baseline and differential.
GenevisibleiQ9UHN1. HS.

Family and domain databases

Gene3Di3.40.50.800. 1 hit.
InterProiIPR004154. Anticodon-bd.
IPR027031. Gly-tRNA_synthase/POLG2.
IPR027030. POLG2.
[Graphical view]
PANTHERiPTHR10745. PTHR10745. 1 hit.
PTHR10745:SF8. PTHR10745:SF8. 1 hit.
PfamiPF03129. HGTP_anticodon. 1 hit.
[Graphical view]
SUPFAMiSSF52954. SSF52954. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDPOG2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHN1
Secondary accession number(s): O00419
, Q0IJ81, Q96GW2, Q9UK35, Q9UK94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 149 of the entry and version 1 of the sequence. [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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.