POLG2 (DNA polymerase gamma 2, accessory subunit)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 11232
Gene name DNA polymerase gamma 2, accessory subunit
Gene symbol POLG2
Synonyms (NCBI Gene)
HP55MTDPS16MTDPS16AMTDPS16BMTPOLBPEOA4POLBPOLG-BETAPOLGB
Chromosome 17
Chromosome location 17q23.3
Summary This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA sy
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IDA 10608893, 26123486
GO:0003887 Function DNA-directed DNA polymerase activity IEA
GO:0005515 Function Protein binding IPI 16263719, 17762861, 19837034, 26496610, 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604983 9180 ENSG00000256525
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHN1
Protein name DNA polymerase subunit gamma-2 (DNA polymerase gamma accessory 55 kDa subunit) (p55) (Mitochondrial DNA polymerase accessory subunit) (MtPolB) (PolG-beta)
Protein 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
PDB 2G4C , 3IKL , 3IKM , 4ZTU , 4ZTZ , 5C51 , 5C52 , 5C53 , 8D33 , 8D37 , 8D3R , 8D42 , 8G5I , 8G5J , 8G5K , 8G5L , 8G5M , 8G5N , 8G5O , 8G5P , 8T7E , 8UDK , 8UDL , 8V54 , 8V55 , 8V5R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03129 HGTP_anticodon 379 → 478 Anticodon binding domain Domain
Sequence 
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAP
GSGEGSEALLEICQRRHFLSGSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVV
FREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDKELSKEQLVAFLENVLKTSGK
LRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELI
ETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENS
FTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQGLFNELLENGISVWPGYLET
MQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYIS
SAKNV
Sequence length 485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Base excision repair   Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
106
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
POLG2-related disorder Likely pathogenic; Pathogenic rs1555669548, rs104894632 RCV002307803
RCV003330384
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Likely pathogenic; Pathogenic rs104894632, rs397514659, rs1568079613 RCV000005594
RCV000033245
RCV000033247
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute liver failure Conflicting classifications of pathogenicity rs886037843 RCV000258005
Cervical cancer Likely benign; Benign rs376004281, rs61751983 RCV005926330
RCV005893538
Clear cell carcinoma of kidney Benign rs61751983 RCV005893539
Colorectal cancer Conflicting classifications of pathogenicity rs144148008 RCV005893543
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Deaf Blind Disorders Associate 18195150
Hypogonadism Associate 18195150
Liver Failure Associate 27592148, 30157269
Liver Failure Acute Associate 27483465, 27592148
Mitochondrial Diseases Associate 21555342, 23596069, 27483465, 28154168
Muscle Neoplasms Associate 18195150
Ophthalmoplegia Associate 16685652, 27592148
Ophthalmoplegia Chronic Progressive External Associate 18195150, 28154168, 35289132
Sleep Initiation and Maintenance Disorders Associate 23313956
Visceral myopathy familial external ophthalmoplegia Associate 21555342, 27592148, 30157269