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UniProtKB - Q9UHN1 (DPOG2_HUMAN)
Protein
DNA polymerase subunit gamma-2, mitochondrial
Gene
POLG2
Organism
Homo sapiens (Human)
Status
Functioni
Mitochondrial polymerase processivity subunit. It regulates the polymerase and exonuclease activities promoting processive DNA synthesis. Binds to ss-DNA.
2 PublicationsGO - Molecular functioni
- DNA-directed DNA polymerase activity Source: Ensembl
- DNA polymerase binding Source: UniProtKB
- DNA polymerase processivity factor activity Source: UniProtKB
- double-stranded DNA binding Source: UniProtKB
- identical protein binding Source: Ensembl
GO - Biological processi
- DNA-dependent DNA replication Source: UniProtKB
- DNA repair Source: InterPro
- in utero embryonic development Source: Ensembl
- mitochondrial DNA metabolic process Source: Ensembl
- mitochondrial DNA replication Source: ComplexPortal
- mitochondrion morphogenesis Source: Ensembl
- positive regulation of DNA-directed DNA polymerase activity Source: UniProtKB
- respiratory electron transport chain Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA replication |
Enzyme and pathway databases
BRENDAi | 2.7.7.7, 2681 |
PathwayCommonsi | Q9UHN1 |
Reactomei | R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SignaLinki | Q9UHN1 |
SIGNORi | Q9UHN1 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA polymerase subunit gamma-2, mitochondrialAlternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9180, POLG2 |
MIMi | 604983, gene |
neXtProti | NX_Q9UHN1 |
VEuPathDBi | HostDB:ENSG00000256525 |
Subcellular locationi
Mitochondrion
Mitochondrion
- gamma DNA polymerase complex Source: UniProtKB
- mitochondrial matrix Source: ComplexPortal
- mitochondrial nucleoid Source: BHF-UCL
- mitochondrion Source: HPA
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029364 | 451 | G → 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078773 | 182 | R → W in MTDPS16; decreased function in mitochondrial DNA replication; decreased protein stability; no effect on DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886037843EnsemblClinVar. | 1 |
Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (MTDPS16B)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by childhood onset of progressive neuroophthalmic manifestations with optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia, and generalized chorea associated with mtDNA depletion.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_086017 | 433 | D → Y in MTDPS16B; decreased DNA polymerase processivity factor activity; results in decreased stability; affects the secondary structure as shown by circular dichroism spectroscopy. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial disease, Progressive external ophthalmoplegiaOrganism-specific databases
DisGeNETi | 11232 |
MalaCardsi | POLG2 |
MIMi | 610131, phenotype 618528, phenotype 619425, phenotype |
OpenTargetsi | ENSG00000256525 |
Orphaneti | 254892, Autosomal dominant progressive external ophthalmoplegia |
PharmGKBi | PA33501 |
Miscellaneous databases
Pharosi | Q9UHN1, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3430903 |
Genetic variation databases
BioMutai | POLG2 |
DMDMi | 17367139 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – ? | MitochondrionSequence analysis | ||
ChainiPRO_0000007314 | ? – 485 | DNA polymerase subunit gamma-2, mitochondrial |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 38 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UHN1 |
jPOSTi | Q9UHN1 |
MassIVEi | Q9UHN1 |
MaxQBi | Q9UHN1 |
PaxDbi | Q9UHN1 |
PeptideAtlasi | Q9UHN1 |
PRIDEi | Q9UHN1 |
ProteomicsDBi | 84382 |
PTM databases
iPTMneti | Q9UHN1 |
PhosphoSitePlusi | Q9UHN1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000256525, Expressed in small intestine Peyer's patch and 218 other tissues |
ExpressionAtlasi | Q9UHN1, baseline and differential |
Genevisiblei | Q9UHN1, HS |
Organism-specific databases
HPAi | ENSG00000256525, Low tissue specificity |
Interactioni
Subunit structurei
Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.
Binary interactionsi
Q9UHN1
With | #Exp. | IntAct |
---|---|---|
POLG [P54098] | 11 | EBI-852642,EBI-852624 |
GO - Molecular functioni
- DNA polymerase binding Source: UniProtKB
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 116398, 30 interactors |
ComplexPortali | CPX-2093, Mitochondrial DNA polymerase gamma complex |
IntActi | Q9UHN1, 14 interactors |
MINTi | Q9UHN1 |
STRINGi | 9606.ENSP00000442563 |
Miscellaneous databases
RNActi | Q9UHN1, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q9UHN1 |
SMRi | Q9UHN1 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UHN1 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 28 – 65 | DisorderedSequence analysisAdd BLAST | 38 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 38 – 54 | Basic and acidic residuesSequence analysisAdd BLAST | 17 |
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2298, Eukaryota |
GeneTreei | ENSGT00940000153759 |
HOGENOMi | CLU_055833_0_0_1 |
InParanoidi | Q9UHN1 |
OMAi | AFREHIF |
OrthoDBi | 1183820at2759 |
PhylomeDBi | Q9UHN1 |
TreeFami | TF103005 |
Family and domain databases
CDDi | cd02426, Pol_gamma_b_Cterm, 1 hit |
Gene3Di | 3.30.930.10, 1 hit 3.40.50.800, 1 hit |
InterProi | View protein in InterPro IPR045864, aa-tRNA-synth_II/BPL/LPL IPR004154, Anticodon-bd IPR036621, Anticodon-bd_dom_sf IPR027031, Gly-tRNA_synthase/POLG2 IPR027030, POLG2 IPR042064, POLG2_C |
PANTHERi | PTHR10745, PTHR10745, 1 hit PTHR10745:SF8, PTHR10745:SF8, 1 hit |
Pfami | View protein in Pfam PF03129, HGTP_anticodon, 1 hit |
SUPFAMi | SSF55681, SSF55681, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q9UHN1-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A5F9ZH93 | A0A5F9ZH93_HUMAN | DNA polymerase subunit gamma-2, mit... | POLG2 | 342 | Annotation score: | ||
A0A5F9ZHX9 | A0A5F9ZHX9_HUMAN | DNA polymerase subunit gamma-2, mit... | POLG2 | 395 | Annotation score: | ||
J3KRM2 | J3KRM2_HUMAN | DNA polymerase subunit gamma-2, mit... | POLG2 | 151 | Annotation score: | ||
J3QRU9 | J3QRU9_HUMAN | DNA polymerase subunit gamma-2, mit... | POLG2 | 81 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 114 – 124 | WWTSVVVFREQ → MVDLGGGVHGA in AAC51321 (PubMed:9153213).CuratedAdd BLAST | 11 | |
Sequence conflicti | 122 | R → T in AAD56542 (PubMed:10677218).Curated | 1 | |
Sequence conflicti | 136 | G → S in AAD56542 (PubMed:10677218).Curated | 1 | |
Sequence conflicti | 136 | G → S in AAC51321 (PubMed:9153213).Curated | 1 | |
Sequence conflicti | 287 – 292 | NKLYYN → TNFTTI in AAC51321 (PubMed:9153213).Curated | 6 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032028 | 169 | A → T2 PublicationsCorresponds to variant dbSNP:rs1427463EnsemblClinVar. | 1 | |
Natural variantiVAR_078773 | 182 | R → 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_032029 | 416 | G → A No functional deficit. 2 PublicationsCorresponds to variant dbSNP:rs17850455EnsemblClinVar. | 1 | |
Natural variantiVAR_086017 | 433 | D → Y in MTDPS16B; decreased DNA polymerase processivity factor activity; results in decreased stability; affects the secondary structure as shown by circular dichroism spectroscopy. 1 Publication | 1 | |
Natural variantiVAR_029364 | 451 | G → 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 |
CCDSi | CCDS32706.1 |
RefSeqi | NP_009146.2, NM_007215.3 |
Genome annotation databases
Ensembli | ENST00000539111.7; ENSP00000442563.2; ENSG00000256525.8 |
GeneIDi | 11232 |
KEGGi | hsa:11232 |
MANE-Selecti | ENST00000539111.7; ENSP00000442563.2; NM_007215.4; NP_009146.2 |
UCSCi | uc002jei.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 |
CCDSi | CCDS32706.1 |
RefSeqi | NP_009146.2, NM_007215.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2G4C | X-ray | 3.15 | A/B/C/D | 26-485 | [»] | |
3IKL | X-ray | 3.10 | A/B | 1-146 | [»] | |
A/B | 181-485 | [»] | ||||
3IKM | X-ray | 3.24 | B/C/E/F | 59-485 | [»] | |
4ZTU | X-ray | 3.30 | B/C | 26-485 | [»] | |
4ZTZ | X-ray | 3.44 | B/C | 26-485 | [»] | |
5C51 | X-ray | 3.43 | B/C | 1-485 | [»] | |
5C52 | X-ray | 3.64 | B/C | 1-485 | [»] | |
5C53 | X-ray | 3.57 | B/C | 1-485 | [»] | |
AlphaFoldDBi | Q9UHN1 | |||||
SMRi | Q9UHN1 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116398, 30 interactors |
ComplexPortali | CPX-2093, Mitochondrial DNA polymerase gamma complex |
IntActi | Q9UHN1, 14 interactors |
MINTi | Q9UHN1 |
STRINGi | 9606.ENSP00000442563 |
Chemistry databases
ChEMBLi | CHEMBL3430903 |
PTM databases
iPTMneti | Q9UHN1 |
PhosphoSitePlusi | Q9UHN1 |
Genetic variation databases
BioMutai | POLG2 |
DMDMi | 17367139 |
Proteomic databases
EPDi | Q9UHN1 |
jPOSTi | Q9UHN1 |
MassIVEi | Q9UHN1 |
MaxQBi | Q9UHN1 |
PaxDbi | Q9UHN1 |
PeptideAtlasi | Q9UHN1 |
PRIDEi | Q9UHN1 |
ProteomicsDBi | 84382 |
Protocols and materials databases
Antibodypediai | 50586, 164 antibodies from 28 providers |
DNASUi | 11232 |
Genome annotation databases
Ensembli | ENST00000539111.7; ENSP00000442563.2; ENSG00000256525.8 |
GeneIDi | 11232 |
KEGGi | hsa:11232 |
MANE-Selecti | ENST00000539111.7; ENSP00000442563.2; NM_007215.4; NP_009146.2 |
UCSCi | uc002jei.4, human |
Organism-specific databases
CTDi | 11232 |
DisGeNETi | 11232 |
GeneCardsi | POLG2 |
HGNCi | HGNC:9180, POLG2 |
HPAi | ENSG00000256525, Low tissue specificity |
MalaCardsi | POLG2 |
MIMi | 604983, gene 610131, phenotype 618528, phenotype 619425, phenotype |
neXtProti | NX_Q9UHN1 |
OpenTargetsi | ENSG00000256525 |
Orphaneti | 254892, Autosomal dominant progressive external ophthalmoplegia |
PharmGKBi | PA33501 |
VEuPathDBi | HostDB:ENSG00000256525 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2298, Eukaryota |
GeneTreei | ENSGT00940000153759 |
HOGENOMi | CLU_055833_0_0_1 |
InParanoidi | Q9UHN1 |
OMAi | AFREHIF |
OrthoDBi | 1183820at2759 |
PhylomeDBi | Q9UHN1 |
TreeFami | TF103005 |
Enzyme and pathway databases
BRENDAi | 2.7.7.7, 2681 |
PathwayCommonsi | Q9UHN1 |
Reactomei | R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SignaLinki | Q9UHN1 |
SIGNORi | Q9UHN1 |
Miscellaneous databases
BioGRID-ORCSi | 11232, 297 hits in 1085 CRISPR screens |
ChiTaRSi | POLG2, human |
EvolutionaryTracei | Q9UHN1 |
GeneWikii | POLG2 |
GenomeRNAii | 11232 |
Pharosi | Q9UHN1, Tbio |
PROi | PR:Q9UHN1 |
RNActi | Q9UHN1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000256525, Expressed in small intestine Peyer's patch and 218 other tissues |
ExpressionAtlasi | Q9UHN1, baseline and differential |
Genevisiblei | Q9UHN1, HS |
Family and domain databases
CDDi | cd02426, Pol_gamma_b_Cterm, 1 hit |
Gene3Di | 3.30.930.10, 1 hit 3.40.50.800, 1 hit |
InterProi | View protein in InterPro IPR045864, aa-tRNA-synth_II/BPL/LPL IPR004154, Anticodon-bd IPR036621, Anticodon-bd_dom_sf IPR027031, Gly-tRNA_synthase/POLG2 IPR027030, POLG2 IPR042064, POLG2_C |
PANTHERi | PTHR10745, PTHR10745, 1 hit PTHR10745:SF8, PTHR10745:SF8, 1 hit |
Pfami | View protein in Pfam PF03129, HGTP_anticodon, 1 hit |
SUPFAMi | SSF55681, SSF55681, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DPOG2_HUMAN | |
Accessioni | Q9UHN1Primary (citable) accession number: Q9UHN1 Secondary accession number(s): O00419 Q9UK94 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 16, 2001 |
Last sequence update: | May 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references