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FLASH GENE

Symbol

POLG

contributors: mct/npt - updated : 01- 02-202

HGNC name	polymerase (DNA directed), gamma
HGNC id	9179

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	18.50 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

(CAG)10 repeat in the first exon

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	variants encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001126131 23 - 4450 NP_001119603 139.4 1239 - 2021 34189666 NM_002693 23 - 4462 NP_002684 139.4 1239 - 2021 34189666

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly Cardiovascular heart       highly Digestive liver         Endocrine pancreas         Nervous brain           spinal cord       highly Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Lymphoid         Muscular striatum skeletal     Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal polyglutamine region
	a polymerase motif B
	a exonuclease motif
	a spacer-region

mono polymer

heteromer , dimer , trimer

HOMOLOGY

interspecies	homolog to murine Polg
	homolog to Drosophila tam
	homolog to C.elegans Y57A10A.15

Homologene

FAMILY

DNA polymerase type A family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus

basic FUNCTION	involved in the replication of mitochondrial DNA
	playing an essential role for the organogenesis during embryonic development
	encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome
	is responsible for the replication and repair of mitochondrial DNA (mtDNA)

CELLULAR PROCESS

nucleotide, replication

PHYSIOLOGICAL PROCESS

text	mitochondrial DNA replication

PATHWAY

metabolism

signaling

a component	subunit of DNA poymerase gamma
	heterotrimer composed of a 140kDa catalytic subunit (POLG alpha)and a 55 kDa accessory subunit (POLG beta)

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Mg2+

protein	interacting with LIG3 (interaction of DNA ligase III and DNA polymerase gamma is required for proper maintenance of the mitochondrial genome)
	co-association of NEIL2 and PNKP with POLG on the mitochondrial genome
	MGME1 interacts with the mitochondrial replicase POLG, suggesting that it is a constituent of the mitochondrial replisome, to which it provides an additional exonuclease activity
	among the direct targets of POLR3G, POLG is potentially important in sustaining stem cell status in a POLR3G-dependent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PEO1 , AMS1 , PNDC , SANDO , MNGIE2 , OLEN

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       in substantia nigra of Parkinson disease, with respiratory deficiency constitutional     --low   co- deficient expression of POLG and SSBP1 genes could contribute to the development of mtDNA deletion

Susceptibility

to male infertility to deletion of mitochondrial DNA to testicular germ-cell can

Variant & Polymorphism SNP , repeat , other	common A467T associated to reduced polymerase activity and loss of accessory subunit interaction are responsible for the depletion and deletion of mitochondrial DNA
	association of the polymorphism of the CAG repeat with testicular germ-cell cancer (Blomberg 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice expressing proofreading-deficient version of the mitochondrial POLG accumulate mtDNA mutations and display features of accelerated aging
	in mice a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with haematopoietic dysfunction including anaemia