Aliases for POLG Gene
Aliases for POLG Gene
External Ids for POLG Gene
- HGNC: 9179
- Entrez Gene: 5428
- Ensembl: ENSG00000140521
- OMIM: 174763
- UniProtKB: P54098
Previous GeneCards Identifiers for POLG Gene
- GC15M086198
- GC15M083225
- GC15M087446
- GC15M087589
- GC15M087559
- GC15M087660
- GC15M089859
- GC15M065971
Summaries for POLG Gene
-
Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for POLG Gene
POLG (DNA Polymerase Gamma, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLG include Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis and Mitochondrial Dna Depletion Syndrome 4A. Among its related pathways are Cell Cycle Control of Chromosomal Replication and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protease binding.
UniProtKB/Swiss-Prot for POLG Gene
-
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
Additional gene information for POLG Gene
- Monarch Initiative
- Search for POLG at DataMed
- Search for POLG at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLG Gene
Genomics for POLG Gene
GeneHancer (GH) Regulatory Elements for POLG Gene
Promoters and enhancers for POLG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around POLG on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the POLG gene promoter:
-
- HTF
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- STAT5A
- STAT5B
- STAT6
Regulatory Element Products
Genomic Locations for POLG Gene
Genomic Locations for POLG Gene
- chr15:89,305,198-89,334,861
- (GRCh38/hg38)
- Size:
- 29,664 bases
- Orientation:
- Minus strand
- chr15:89,859,534-89,878,092
- (GRCh37/hg19)
- Size:
- 18,559 bases
- Orientation:
- Minus strand
Genomic View for POLG Gene
Genes around POLG on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q26.1 by Entrez Gene
- 15q26.1 by HGNC
- 15q26.1 by Ensembl
POLG Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for POLG Gene
Proteins for POLG Gene
-
Protein details for POLG Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P54098-DPOG1_HUMAN
- Recommended name:
- DNA polymerase subunit gamma-1
- Protein Accession:
- P54098
- Q8NFM2
- Q92515
Protein attributes for POLG Gene
- Size:
- 1239 amino acids
- Molecular mass:
- 139562 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.
Protein Expression for POLG Gene
Post-translational modifications for POLG Gene
Other Protein References for POLG Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for POLG
- Novus Biologicals Antibodies for POLG
-
Abcam antibodies for POLG
- Invitrogen Antibodies for POLG (AFLGC-POLG)
- GeneTex POLG Antibody for POLG
-
Santa Cruz Biotechnology (SCBT) Antibodies for POLG
Protein Products
-
OriGene Purified Proteins for POLG
- Search Origene for MassSpec and Protein Over-expression Lysates for POLG
- Origene Custom Protein Services for POLG
- Novus Biologicals proteins for POLG
- Search GeneTex for Proteins for POLG
-
Abcam proteins for POLG
Assay Products
- antibodies-online: Search results for 4 available POLG Elisa Kits ranked by validation data
- Compare Top POLG Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for POLG Gene
Domains & Families for POLG Gene
Gene Families for POLG Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for POLG Gene
Suggested Antigen Peptide Sequences for POLG Gene
Graphical View of Domain Structure for InterPro Entry
P54098- Family:
-
- Belongs to the DNA polymerase type-A family.
Function for POLG Gene
Molecular function for POLG Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
- GENATLAS Biochemistry:
- polymerase,(DNA directed) gamma,139.5kDa mitochondrial,with a (CAG)n repeat in the first exon,not altered in disorders with mitochondrial genome instability
Enzyme Numbers (IUBMB) for POLG Gene
Phenotypes From GWAS Catalog for POLG Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 14739292 |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 18063578 |
| GO:0003887 | DNA-directed DNA polymerase activity | IEA,IDA | 15164064 |
Phenotypes for POLG Gene
- MGI mutant phenotypes for POLG:
-
inferred from 5 alleles
- cardiovascular system phenotype
- pigmentation phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- no phenotypic analysis
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- hearing/vestibular/ear phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for POLG:
-
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Moderately decreased NFAT1-GFP nuclear translocation
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased NF-kappaB reporter expression
- Increased Sindbis virus (SINV) infection
- Increased viability
Animal Models for POLG Gene
- MGI Knock Outs for POLG:
-
- Polg Polg<tm1.2Lrsn>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for POLG
-
CRISPR Products
-
OriGene CRISPR knockouts for POLG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLG
- genomics-online: gRNA clones - Search results for 82 available POLG gene related products
- Overview of 82 available POLG gene related products
- Applied Biological Materials CRISPR for POLG
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLG
- GenScript: Design CRISPR guide RNA sequences for POLG
miRNA for POLG Gene
- miRTarBase miRNAs that target POLG
-
- hsa-mir-26b-5p (MIRT028963)
- hsa-mir-296-3p (MIRT038412)
- hsa-mir-615-3p (MIRT039938)
- hsa-mir-484 (MIRT041750)
- hsa-mir-221-3p (MIRT046950)
- hsa-mir-6515-5p (MIRT649315)
- hsa-mir-4443 (MIRT649316)
- hsa-mir-6881-3p (MIRT649317)
- hsa-mir-7111-3p (MIRT649318)
- hsa-mir-6780a-3p (MIRT649319)
- hsa-mir-421 (MIRT649320)
- hsa-mir-7159-5p (MIRT649321)
- hsa-mir-505-3p (MIRT649322)
- hsa-mir-6894-5p (MIRT649323)
- hsa-mir-765 (MIRT649324)
- hsa-mir-7154-3p (MIRT649325)
- hsa-mir-766-5p (MIRT649326)
- hsa-mir-4778-3p (MIRT649327)
- hsa-mir-676-5p (MIRT649328)
- hsa-mir-3667-3p (MIRT649329)
- hsa-mir-6734-3p (MIRT649330)
- hsa-mir-877-3p (MIRT649331)
- hsa-mir-3065-5p (MIRT649332)
- hsa-mir-127-5p (MIRT762116)
- hsa-mir-3928-5p (MIRT767752)
- hsa-mir-6806-3p (MIRT779536)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLG
- Browse OriGene Inhibitory RNA Products For POLG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLG
- genomics-online: shRNA clones - Search results for 82 available POLG gene related products
- Overview of 82 available POLG gene related products
Clone Products
- Sino Biological Human cDNA Clone for POLG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLG
- Applied Biological Materials Clones for POLG
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for POLG
No data available for Transcription Factor Targets and HOMER Transcription for POLG Gene
Localization for POLG Gene
Subcellular locations from UniProtKB/Swiss-Prot for POLG Gene
- Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 2 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | TAS | 8884268 |
| GO:0005760 | gamma DNA polymerase complex | IEA | -- |
| GO:0032991 | protein-containing complex | IDA | 25378300 |
| GO:0042645 | mitochondrial nucleoid | IEA,IDA | 18063578 |
| GO:0043195 | terminal bouton | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for POLG Gene
Pathways & Interactions for POLG Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism | ||
| 2 | DNA Damage | ||
| 3 | Cell Cycle Control of Chromosomal Replication | ||
| 4 | Chks in Checkpoint Regulation | ||
| 5 | Nucleotide Metabolism | ||
Pathways by source for POLG Gene
1 BioSystems pathway for POLG Gene
1 KEGG pathway for POLG Gene
2 Qiagen pathways for POLG Gene
1 Cell Signaling Technology pathway for POLG Gene
Interacting Proteins for POLG Gene
Selected Interacting proteins:
ENSP00000268124
P54098-DPOG1_HUMAN
for POLG Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for POLG
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006259 | DNA metabolic process | TAS | 8884268 |
| GO:0006260 | DNA replication | IEA | -- |
| GO:0006261 | DNA-dependent DNA replication | TAS | 3619920 |
| GO:0006264 | mitochondrial DNA replication | IBA | -- |
| GO:0006287 | base-excision repair, gap-filling | IDA | 15177179 |
No data available for SIGNOR curated interactions for POLG Gene
Drugs & Compounds for POLG Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Valproic Acid | Approved, Investigational | Pharma | HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors | 333 | ||
| Clofarabine | Approved, Investigational | Pharma | Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase | 161 | ||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Magnesium | Approved | Nutra | 0 | |||
| dctp | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
|||
| Thymidine 5'-triphosphate |
|
365-08-2 |
|
Drug Products
Transcripts for POLG Gene
mRNA/cDNA for POLG Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (196) Selected AceView cDNA sequences:
- (24) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000635831 100 bps
- ENST00000631044 4668 bps (uc059nac.1)
- ENST00000268124 4500 bps (uc002bns.5)
- ENST00000442287 4487 bps (uc002bnr.5)
- ENST00000530292 1326 bps (uc059nad.1)
Unigene Clusters for POLG Gene
- Polymerase (DNA directed), gamma:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for POLG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLG
- genomics-online: gRNA clones - Search results for 82 available POLG gene related products
- Overview of 82 available POLG gene related products
- Applied Biological Materials CRISPR for POLG
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLG
- GenScript: Design CRISPR guide RNA sequences for POLG
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLG
- Browse OriGene Inhibitory RNA Products For POLG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLG
- genomics-online: shRNA clones - Search results for 82 available POLG gene related products
- Overview of 82 available POLG gene related products
Clone Products
- Sino Biological Human cDNA Clone for POLG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLG
- Applied Biological Materials Clones for POLG
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | · | 12c | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP21: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
| ExUns: | 12d | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | · | 21c | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | · | 26c | ^ | 27 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP19: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
Expression for POLG Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
This gene is overexpressed in Brain (26.0) and Lymph node (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLG Gene
NURSA nuclear receptor signaling pathways regulating expression of POLG Gene:
POLGSOURCE GeneReport for Unigene cluster for POLG Gene:
Hs.706868Evidence on tissue expression from TISSUES for POLG Gene
- Nervous system(4.7)
- Muscle(2.7)
- Liver(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for POLG Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- inner ear
- larynx
- meninges
- mouth
- neck
- pharynx
- pituitary gland
- salivary gland
- skull
- vocal cord
Thorax:
- breast
- esophagus
- heart
- heart valve
- lung
Abdomen:
- biliary tract
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
Pelvis:
- ovary
- penis
- prostate
- rectum
- testicle
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- finger
- foot
- forearm
- hand
- lower limb
- nail
- shin
- thigh
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for POLG
-
OriGene qPCR primer pairs and template standards for POLG
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLG Gene
Orthologs for POLG Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POLG 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POLG 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | POLG 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Polg 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Polg 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POLG 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POLG 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POLG 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POLG 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100488393 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397851 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | polg 34 33 |
|
OneToOne | |
| Dr.19790 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000139 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | tam 34 35 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | Y57A10A.15 35 |
|
|
|
| polg-1 34 |
|
OneToOne | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADR357C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIP1 36 34 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU00276 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pog1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for POLG was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for POLG Gene
- ENSEMBL:
- Gene Tree for POLG (if available)
- TreeFam:
- Gene Tree for POLG (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for POLG: view image
Paralogs for POLG Gene
No data available for Paralogs for POLG Gene
Variants for POLG Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for POLG Gene
- DPOG1_HUMAN-P54098
- The poly-Gln region seems to be polymorphic.
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1003442806 | uncertain-significance, Progressive sclerosing poliodystrophy | 89,322,875(-) | G/A/T | coding_sequence_variant, missense_variant | |
| rs1004988362 | uncertain-significance, Progressive sclerosing poliodystrophy | 89,333,096(-) | C/G | coding_sequence_variant, missense_variant | |
| rs1009602756 | uncertain-significance, POLG-Related Spectrum Disorders, Fanconi anemia | 89,316,629(-) | C/T | 3_prime_UTR_variant | |
| rs1011151684 | uncertain-significance, POLG-Related Spectrum Disorders | 89,334,667(-) | G/A | intron_variant | |
| rs1022612492 | uncertain-significance, Progressive sclerosing poliodystrophy | 89,333,588(-) | G/A/C | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1642918 | CNV | deletion | 17803354 |
| esv23656 | CNV | loss | 19812545 |
| esv2672032 | CNV | deletion | 23128226 |
| esv2676746 | CNV | deletion | 23128226 |
| esv2678873 | CNV | deletion | 23128226 |
| esv2749999 | CNV | deletion | 23290073 |
| esv2750000 | CNV | deletion | 23290073 |
| esv2750001 | CNV | deletion | 23290073 |
| esv3306255 | CNV | mobile element insertion | 20981092 |
| esv3349295 | CNV | insertion | 20981092 |
| esv3552825 | CNV | deletion | 23714750 |
| nsv1038140 | CNV | gain | 25217958 |
| nsv1071234 | CNV | deletion | 25765185 |
| nsv1150259 | CNV | deletion | 26484159 |
| nsv472754 | CNV | novel sequence insertion | 20440878 |
| nsv833086 | CNV | loss | 17160897 |
| nsv957985 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
21.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.74;
66.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for POLG Gene
SNP Genotyping and Copy Number Assay Products
Disorders for POLG Gene
(52) MalaCards diseases for POLG Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Search POLG in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DPOG1_HUMAN- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]: 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:0000269 PubMed:11897778, ECO:0000269 PubMed:12210792, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15534189, ECO:0000269 PubMed:17420318, ECO:0000269 PubMed:17846414, ECO:0000269 PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]: A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms. {ECO:0000269 PubMed:11431686, ECO:0000269 PubMed:12565911, ECO:0000269 PubMed:12707443, ECO:0000269 PubMed:12872260, ECO:0000269 PubMed:12975295, ECO:0000269 PubMed:14635118, ECO:0000269 PubMed:15349879, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15477547, ECO:0000269 PubMed:15917273, ECO:0000269 PubMed:16401742, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16634032, ECO:0000269 PubMed:16639411}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. {ECO:0000269 PubMed:12565911, ECO:0000269 PubMed:14745080, ECO:0000269 PubMed:15477547, ECO:0000269 PubMed:15824347, ECO:0000269 PubMed:15917273, ECO:0000269 PubMed:16080118, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:16919951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]: An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. {ECO:0000269 PubMed:15122711, ECO:0000269 PubMed:15689359, ECO:0000269 PubMed:15929042, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]: An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. {ECO:0000269 PubMed:12825077, ECO:0000269 PubMed:19307547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459]: An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases. {ECO:0000269 PubMed:26942291}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for POLG
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for POLG Gene
Publications for POLG Gene
- Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (PMID: 17420318) Hudson G … Chinnery PF (Archives of neurology 2007) 3 4 22 44 58
- Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. (PMID: 17846414) Luoma PT … Suomalainen A (Neurology 2007) 3 4 22 44 58
- Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (PMID: 12975295) Filosto M … DiMauro S (Archives of neurology 2003) 3 4 22 44 58
- POLG1 polyglutamine tract variants associated with Parkinson's disease. (PMID: 20399836) Eerola J … Tienari PJ (Neuroscience letters 2010) 3 22 44 58
- Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (PMID: 18828154) Taanman JW … Schapira AH (Human mutation 2009) 3 4 22 58
Products for POLG Gene
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