POLG (DNA polymerase gamma, catalytic subunit)

2006-10-01  

Identity

HGNC
POLG
LOCATION
15q26.1
LOCUSID
5428
ALIAS
MDP1,MIRAS,MTDPS4A,MTDPS4B,PEO,POLG1,POLGA,SANDO,SCAE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5428
MIM: 174763
HGNC: 9179
Ensembl: ENSG00000140521

Variants:

dbSNP: 5428
ClinVar: 5428
TCGA: ENSG00000140521
COSMIC: POLG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140521ENST00000268124P54098
ENSG00000140521ENST00000268124E5KNU5
ENSG00000140521ENST00000442287P54098
ENSG00000140521ENST00000442287E5KNU5
ENSG00000140521ENST00000526314H0YCV2
ENSG00000140521ENST00000526398H0YE43
ENSG00000140521ENST00000528881H0YDF1
ENSG00000140521ENST00000530292H0YD36
ENSG00000140521ENST00000530715H0YCD2
ENSG00000140521ENST00000631044A0A0D9SFM1
ENSG00000140521ENST00000635831A0A1B0GUT0
ENSG00000140521ENST00000635986A0A1B0GVT8
ENSG00000140521ENST00000636774A0A1B0GTQ6
ENSG00000140521ENST00000636812A0A1B0GV78
ENSG00000140521ENST00000637238A0A1B0GW33
ENSG00000140521ENST00000637264A0A1B0GTU7
ENSG00000140521ENST00000637307A0A1B0GV99
ENSG00000140521ENST00000650303A0A3B3IS91
ENSG00000140521ENST00000666746A0A590UJP1
ENSG00000140521ENST00000670281A0A590UK63

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
DNA polymerase gamma complexKEGGhsa_M00294
DNA polymerase gamma complexKEGGM00294

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164783479divalproex sodiumChemicalLabelAnnotationassociated
PA164925725Toxic liver diseaseDiseaseClinicalAnnotationassociatedPD21038416
PA451846valproic acidChemicalClinicalAnnotation, LabelAnnotation, MultilinkAnnotationassociatedPD18208989, 19054397, 20138553, 21038416, 21357833, 21455106, 21686371, 23448099

References

Pubmed IDYearTitleCitations
380704612024POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.0
384715792024Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.0
385706852024Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.1
387879582024An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ.0
380704612024POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.0
384715792024Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.0
385706852024Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.1
387879582024An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ.0
359652202023POLG mutation setting off 'FIRES'.0
367035002023[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].0
367444362023Mechanism of strand displacement DNA synthesis by the coordinated activities of human mitochondrial DNA polymerase and SSB.5
371054502023POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia.1
371380202023DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?0
359652202023POLG mutation setting off 'FIRES'.0
367035002023[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].0

Citation

Dessen P

POLG (DNA polymerase gamma, catalytic subunit)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43420/polg-(dna-polymerase-gamma-catalytic-subunit)