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POLG2 DNA polymerase gamma 2, accessory subunit [ Homo sapiens (human) ]

Gene ID: 11232, updated on 2-Oct-2018

Summary

Official Symbol
POLG2provided by HGNC
Official Full Name
DNA polymerase gamma 2, accessory subunitprovided by HGNC
Primary source
HGNC:HGNC:9180
See related
Ensembl:ENSG00000256525 MIM:604983; Vega:OTTHUMG00000178899
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HP55; POLB; PEOA4; POLGB; MTPOLB; POLG-BETA
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 synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
Expression
Broad expression in testis (RPKM 7.8), lymph node (RPKM 4.4) and 25 other tissues See more
Orthologs

Genomic context

See POLG2 in Genome Data Viewer
Location:
17q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (64477785..64497066, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62473902..62493184, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 57 Neighboring gene platelet and endothelial cell adhesion molecule 1 Neighboring gene mast cell immunoglobulin like receptor 1 Neighboring gene ATP synthase membrane subunit f pseudogene 4 Neighboring gene microRNA 3064 Neighboring gene microRNA 5047 Neighboring gene DEAD-box helicase 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication NAS
Non-traceable Author Statement
more info
PubMed 
DNA-dependent DNA replication TAS
Traceable Author Statement
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mitochondrial DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization TAS
Traceable Author Statement
more info
 
respiratory electron transport chain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial chromosome TAS
Traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
DNA polymerase subunit gamma-2, mitochondrial
Names
DNA polymerase gamma accessory 55 kDa subunit
mitochondrial DNA polymerase subunit gamma-2
mitochondrial DNA polymerase, accessory subunit
p55
polymerase (DNA directed), gamma 2, accessory subunit
polymerase (DNA) gamma 2, accessory subunit
NP_009146.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013029.1 RefSeqGene

    Range
    5001..24283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007215.3NP_009146.2  DNA polymerase subunit gamma-2, mitochondrial

    See identical proteins and their annotated locations for NP_009146.2

    Status: REVIEWED

    Source sequence(s)
    BC000913, BC009194, BI826587
    Consensus CDS
    CCDS32706.1
    UniProtKB/Swiss-Prot
    Q9UHN1
    UniProtKB/TrEMBL
    E5KS15
    Related
    ENSP00000442563.2, OTTHUMP00000260267, ENST00000539111.6, OTTHUMT00000443820
    Conserved Domains (3) summary
    PRK04173
    Location:99479
    PRK04173; glycyl-tRNA synthetase; Provisional
    cd02426
    Location:354481
    Pol_gamma_b_Cterm; C-terminal domain of mitochondrial DNA polymerase gamma B subunit, which is required for processivity. Polymerase gamma replicates and repairs mitochondrial DNA. The c-terminal domain of its B subunit is strikingly similar to the anticodon-binding domain ...
    cl00268
    Location:69350
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    64477785..64497066 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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