POLG2
entrez
11232
canonical
uniprot
Q9UHN1
canonical
ensembl
ENSG00000256525
resolver
ensp
ENSP00000442563
resolver
ensp
ENSP00000689701
resolver
ensp
ENSP00000739124
resolver
ensp
ENSP00000739126
resolver
enst
ENST00000539111
resolver
genesymbol
POLG2
resolver
genesymbol_syn
MTPOLB
resolver
hgnc
HGNC:9180
resolver
uniprot
E5KS15
resolver
uniprot
O00419
resolver
uniprot
Q0IJ81
resolver
uniprot
Q96GW2
resolver
uniprot
Q9UK35
resolver
uniprot
Q9UK94
resolver
uniprot_entry
DPOG2_HUMAN
resolver
uniprot_entry
E5KS15_HUMAN
resolver
uniprot_sec
O00419
resolver
uniprot_sec
Q0IJ81
resolver
uniprot_sec
Q96GW2
resolver
uniprot_sec
Q9UK35
resolver
uniprot_sec
Q9UK94
resolver
amino_acid_sequence
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLSGSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDKELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLVWFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQGLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYISSAKNV
uniprot
proteins
disease_involvement
DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]: A 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. {ECO:0000269|PubMed:16685652}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial DNA depletion syndrome 16, hepatic type (MTDPS16) [MIM:618528]: An 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. {ECO:0000269|PubMed:27592148, ECO:0000269|PubMed:30157269}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (MTDPS16B) [MIM:619425]: An 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. {ECO:0000269|PubMed:31778857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Acts as an allosteric regulator of the holoenzyme activities. Enhances the polymerase activity and the processivity of POLG by increasing its interactions with the DNA template. Suppresses POLG exonucleolytic proofreading especially toward homopolymeric templates bearing mismatched termini. Binds to single-stranded DNA. {ECO:0000269|PubMed:11477093, ECO:0000269|PubMed:11477094, ECO:0000269|PubMed:11504725, ECO:0000269|PubMed:15167897, ECO:0000269|PubMed:19837034, ECO:0000269|PubMed:26056153, ECO:0000269|PubMed:30157269, ECO:0000269|PubMed:31778857, ECO:0000269|PubMed:37202477}.
uniprot
proteins
mass_dalton
54911
uniprot
proteins
pubmed
10608893
uniprot
proteins
pubmed
10666468
uniprot
proteins
pubmed
10677218
uniprot
proteins
pubmed
11477093
uniprot
proteins
pubmed
11477094
uniprot
proteins
pubmed
11504725
uniprot
proteins
pubmed
15167897
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16685652
uniprot
proteins
pubmed
18195150
uniprot
proteins
pubmed
19837034
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26056153
uniprot
proteins
pubmed
27592148
uniprot
proteins
pubmed
30157269
uniprot
proteins
pubmed
31778857
uniprot
proteins
pubmed
37202477
uniprot
proteins
pubmed
9153213
uniprot
proteins
sequence_length
485
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P54098}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000250|UniProtKB:P54098}.
uniprot
proteins