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
153511952004Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.123
126866112003Composition and dynamics of human mitochondrial nucleoids.116
164640112006DNA polymerase gamma in mitochondrial DNA replication and repair.109
198370342009Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations.85
185463652008Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.71
169878902006Mitochondrial DNA polymerase-gamma and human disease.64
162637192006Functional human mitochondrial DNA polymerase gamma forms a heterotrimer.62
122107922002Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.61
180628612007Gene polymorphisms and male infertility--a meta-analysis and literature review.58
160249232005The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.57

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