POLG2 (DNA polymerase gamma 2, accessory subunit)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11232
Gene name Gene Name - the full gene name approved by the HGNC.
DNA polymerase gamma 2, accessory subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POLG2
Synonyms (NCBI Gene) Gene synonyms aliases
HP55, MTDPS16, MTDPS16A, MTDPS16B, MTPOLB, PEOA4, POLB, POLG-BETA, POLGB
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604983 9180 ENSG00000256525
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
progressive external ophthalmoplegia with mitochondrial dna deletions Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 rs104894632, rs397514659, rs1568079613 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Hereditary spastic paraplegia Hereditary spastic paraplegia N/A N/A ClinVar
Mitochondrial DNA Deletion Syndrome mitochondrial DNA depletion syndrome N/A N/A GenCC
Mitochondrial DNA Depletion Syndrome mitochondrial DNA depletion syndrome 16 (hepatic type), Mitochondrial DNA depletion syndrome 16 (hepatic type) N/A N/A GenCC, ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease 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