POLG2 Gene Summary [Human]
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 synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | POLG2 |
| Official Name | DNA polymerase gamma 2, accessory subunit [Source:HGNC Symbol;Acc:HGNC:9180] |
| Ensembl ID | ENSG00000256525 |
| Bio databases IDs | |
| Aliases | DNA polymerase gamma 2, accessory subunit |
| Synonyms | DNA polymerase gamma 2, accessory subunit, DNA polymerase γ 2, accessory subunit, HP55, MTDPS16, MTDPS16A, MTDPS16B, MTPOLB, p55, PEOA4, POLB, POLGB, POLG-BETA, POLG-β, polymerase (DNA directed), gamma 2, accessory subunit, polymerase (DNA directed), γ 2, accessory subunit |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human POLG2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HGTP_anticodon
- class_II_aaRS-like_core
- DNA-directed DNA polymerase
- Anticodon binding domain
- double-stranded DNA binding
- enzyme binding
- DNA polymerase processivity factor
- enzyme
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- respiratory disorder
- asthma
- acute liver failure
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
- mitochondrial DNA depletion syndrome
- mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
- hepatic type mitochondrial DNA depletion syndrome 16
role in cell
- autophagy in
- organization
- abnormal morphology
- function
- autophagy
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- cellular membrane
- Mitochondria
- mitochondrial matrix
- mitochondrial nucleoids
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLG2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- in utero embryonic development
- DNA-dependent DNA replication
- positive regulation of DNA-directed DNA polymerase activity
- DNA biosynthetic process
- mitochondrial DNA replication
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- cytoplasm
- mitochondrion
- gamma DNA polymerase complex
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- DNA polymerase processivity factor activity
- DNA polymerase binding
- DNA-directed DNA polymerase activity
- identical protein binding
- protein binding
- double-stranded DNA binding