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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 ophthalmoplegi... See more...
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 DNA Damage and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protease binding.
UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLG
- Top Transcription factor binding sites by QIAGEN in the POLG gene promoter:
-
- HTF
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- STAT5A
- STAT5B
- STAT6
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 HGNC
- 15q26.1 by Entrez Gene
- 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 (By similarity). Interacts with TTC3 (PubMed:29290964).
Protein Expression for POLG Gene
Selected DME Specific Peptides for POLG Gene
- P54098:
-
- DTMSMHMAISGL
- SFWRNAHKR
- AFFSAVD
- GHNVSFD
- YKEDPWLWDLEWD
- HGWGYLVPGR
- GMLEMGVSYLPVNQNWERYL
- CLRKEVTM
- TMDCKTPSNP
- GTDLHSKTA
- FAERLLMQFNHRL
- GTITRRAVE
- DRYRAALALQITNLLTRCMFA
- SLQMRVTPKLM
- CISIHDE
- GSELKAM
- EMKKSLM
- FNYGRIYGAG
- NVGSPFAKDFLP
- TPSNPTGME
- TVGISREHAK
- GGTESEMFNKLESIA
- HGCTAFGWMTLQG
- TSRVNWVVQSSAVDYLHLMLV
- LANDACQLL
Post-translational modifications for POLG Gene
Other Protein References for POLG Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ POLG1 Antibody
- Creative Diagnostics Anti-POLG monoclonal antibody, clone FQS8306
- Creative Biolabs Hi-Affi™ Recombinant Rabbit Anti-POLG Monoclonal Antibody (DS2779AB)
-
Custom Antibody ServicesOriGene Antibodies for POLG
- Novus Biologicals Antibodies for POLG
-
Abcam antibodies for POLG
- Invitrogen Antibodies for POLG (AFLGC-POLG)
-
Biorbyt antibodies 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
-
Abcam proteins for POLG
Assay Products
- Aviva Systems Biology POLG ELISA Kit (Human) (OKCD00983)
- antibodies-online: Show 4 available POLG Elisa Kits ranked by validation data
- Compare Top POLG Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for POLG
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
- Blocks:
-
- DNA-directed DNA polymerase
- DNA-polymerase gamma (family A) signature
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for POLG Gene
- GenScript: Design optimal peptide antigens:
-
- PolG-alpha (DPOG1_HUMAN)
- Polymerase (DNA directed), gamma, isoform CRA_a (E5KNU5_HUMAN)
- Mitochondrial DNA polymerase gamma (Q2V8X9_HUMAN)
- Mitochondrial DNA polymerase gamma (Q2V8Y0_HUMAN)
- Mitochondrial DNA polymerase gamma (Q6JLA7_HUMAN)
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:
- Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7;.
- 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:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 18063578 |
| GO:0003887 | DNA-directed DNA polymerase activity | IDA,IEA | 15164064 |
| GO:0005515 | protein binding | IPI | 16263719 |
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)
- Strongly 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
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POLG - Select products 50% OFF >
- * POLG CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POLG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLG
- genomics-online: gRNA clones - Search for available POLG gRNA products
- Overview of 87 available POLG gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for available POLG shRNA products
- Overview of 87 available POLG gene related products
Clone Products
- Applied Biological Materials (abm): Clones for POLG - Select products 50% OFF >
- * POLG as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POLG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLG
- genomics-online: cdna clones - Search for available POLG CDNA products
- Overview of 87 available POLG gene related products
- orf clones - Search for available POLG ORF products
- Overview of 87 available POLG gene related products
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 |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005739 | mitochondrion | TAS,IDA | -- |
| GO:0005760 | gamma DNA polymerase complex | IDA,IEA | 26446790 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for POLG Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Damage | ||
| 2 | Cell Cycle Control of Chromosomal Replication |
Cell Cycle Control of Chromosomal Replication
-
|
|
| 3 | Chks in Checkpoint Regulation |
DNA Repair Mechanisms
.32
|
|
| 4 | Nucleotide Metabolism | ||
Pathways by source for POLG Gene
1 BioSystems pathway for POLG Gene
2 Qiagen pathways for POLG Gene
- Cell Cycle Control of Chromosomal Replication
- DNA Repair Mechanisms
1 Cell Signaling Technology pathway for POLG Gene
Interacting Proteins for POLG Gene
Selected Interacting proteins:
P54098-DPOG1_HUMAN
ENSP00000268124
for POLG Gene via
UniProtKB
MINT
STRING
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 | IDA | 26446790 |
| GO:0006264 | mitochondrial DNA replication | IBA | 21873635 |
| 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 | 353 | ||
| Clofarabine | Approved, Investigational | Pharma | Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase | 166 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| dctp | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
|||
| Thymidine 5'-triphosphate |
|
365-08-2 |
|
(2) ApexBio Compounds for POLG Gene
| Compound | Action | Cas Number |
|---|---|---|
| Clofarabine | Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase | 123318-82-1 |
| Vitamin D2 (Ergocalciferol) | DNA Polymerase inhibitor | 50-14-6 |
Transcripts for POLG Gene
mRNA/cDNA for POLG Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000268124 4448 bps (ENST00000268124.10)
- ENST00000442287 4487 bps (ENST00000442287.6)
- ENST00000526314 700 bps (ENST00000526314.2)
- ENST00000526398 512 bps (ENST00000526398.1)
- ENST00000526573 544 bps (ENST00000526573.1)
- 4 RNACentral transcripts :
- 2 LNCipedia transcripts :
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POLG - Select products 50% OFF >
- * POLG CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POLG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLG
- genomics-online: gRNA clones - Search for available POLG gRNA products
- Overview of 87 available POLG gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for available POLG shRNA products
- Overview of 87 available POLG gene related products
Clone Products
- Applied Biological Materials (abm): Clones for POLG - Select products 50% OFF >
- * POLG as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POLG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLG
- genomics-online: cdna clones - Search for available POLG CDNA products
- Overview of 87 available POLG gene related products
- orf clones - Search for available POLG ORF products
- Overview of 87 available POLG gene related products
| 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 | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
Relevant External Links for POLG Gene
- GeneLoc Exon Structure for
- POLG
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLG
SOURCE 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
- genomics-online: primer clones - Search for available POLG Primer products
- Overview of 87 available POLG gene related products
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 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POLG 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | POLG 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Polg 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Polg 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POLG 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POLG 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POLG 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POLG 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100488393 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397851 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | polg 31 30 |
|
OneToOne | |
| Dr.19790 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000139 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | tam 31 32 30 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | Y57A10A.15 32 |
|
|
|
| polg-1 31 |
|
OneToOne | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADR357C 30 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIP1 33 31 30 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU00276 30 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pog1 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLG Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 619327 | Uncertain Significance: Progressive sclerosing poliodystrophy | 89,321,999(-) | ACAC/A | INFRAME_DELETION | |
| 619415 | Uncertain Significance: Progressive sclerosing poliodystrophy | 89,323,892(-) | GTTC/G | INFRAME_DELETION | |
| 619491 | Benign: Progressive sclerosing poliodystrophy | 89,333,596(-) | TTGCTGCTGCTGCTGC | INFRAME_DELETION | |
| 619500 | Pathogenic: Progressive sclerosing poliodystrophy | 89,323,809(-) | GC/CT | INTRON_VARIANT | |
| 639971 | Uncertain Significance: Progressive sclerosing poliodystrophy | 89,330,077(-) | T/C | INTRON_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)
