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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
POLG2-related disorder Likely pathogenic; Pathogenic rs1555669548, rs104894632 RCV002307803
RCV003330384
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Likely pathogenic; Pathogenic rs104894632, rs397514659, rs1568079613 RCV000005594
RCV000033245
RCV000033247
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (24)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute liver failure Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA — CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (179)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 2243505
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 17283177
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12036944, 23555190, 24259968
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 30274781
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17065437, 17704129, 27234294, 31415677 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 17065437
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 33673690 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 29535371
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Argininosuccinic Aciduria Argininosuccinic aciduria Pubtator 18039710 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only