InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POLG2

Summary

InnateDB Protein

IDBP-603966.2

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POLG2

Protein Name

polymerase (DNA directed), gamma 2, accessory subunit

Synonyms

HP55; MTPOLB; PEOA4; POLB; POLG-BETA; POLGB;

Species

Homo sapiens

Ensembl Protein

ENSP00000442563

InnateDB Gene

IDBG-543258 (POLG2)

Protein Structure

UniProt Annotation

Function

Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.

Subcellular Localization

Mitochondrion.

Disease Associations

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:0000269PubMed:16685652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003887	DNA-directed DNA polymerase activity
GO:0005515	protein binding
GO:0042802	identical protein binding