POLG Gene
protein-coding GIFtS: 65
GCID: GC15M089859
|
|
polymerase (DNA directed), gamma
| |
Aliases
for POLG gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Polymerase (DNA Directed), Gamma1 2 | | MTDPS4A2 5 | | POLG11 2 3 5 | | MTDPS4B2 5 | | POLGA1 2 3 5 | | PEO2 5 | | Mitochondrial DNA Polymerase Catalytic Subunit2 3 | | SANDO2 5 | | MDP12 3 | | SCAE2 5 | | PolG-Alpha1 | | DNA Polymerase Subunit Gamma-12 | | EC 2.7.7.73 8 | | PolG, Catalytic Subunit2 | | MIRAS2 5 | | |
Export aliases for POLG gene to outside databasesPrevious GC identifers: GC15M086198 GC15M083225 GC15M087446 GC15M087589 GC15M087559 GC15M087660 GC15M065971 |
Summaries
for POLG gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for POLG:
Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalyticsubunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encodedprotein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a causeof progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathydysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinalencephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098Function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA
Gene Wiki entry for POLG
|
Genomic Views
for POLG gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010274.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the POLG gene promoter:
STAT5B STAT1 STAT4 HTF STAT6 STAT1beta STAT5A STAT1alpha STAT2 STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for POLG
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLG |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q25 Ensembl cytogenetic band: 15q26.1 HGNC cytogenetic band: 15q24POLG Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M089859: view genomic region
(about GC identifiers)
Start:
|
89,859,534 bp from pter |
End:
|
89,878,092 bp from pter |
Size:
|
18,559 bases |
Orientation:
|
minus strand |
|
Proteins
for POLG gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098 (See
protein sequence)Recommended Name: DNA polymerase subunit gamma-1 Size: 1239 amino acids; 139562 Da
Cofactor: Magnesium
Subunit: Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits
Subcellular location: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid
1 PDB 3D structure from  and Proteopedia  for POLG:3IKM (3D)
Secondary accessions: Q8NFM2 Q92515Explore the universe of human proteins at neXtProt for POLG: NX_P54098
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P54098
4/25 DME Specific Peptides for POLG (P54098) (see all 25)
POLG Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001119603.1 NP_002684.1
ENSEMBL proteins: ENSP00000268124 ENSP00000399851 ENSP00000432885 ENSP00000431395 ENSP00000433502 ENSP00000432389 ENSP00000434937
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
POLG for ontologies About GeneDecksing
POLG Antibody Products:
Assay Products for POLG: |
Protein
Domains /
Families
for POLG gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
POLG for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P54098ProtoNet protein and cluster: P54098 2 Blocks protein families: IPB001098 DNA-directed DNA polymerase IPB002297 DNA-polymerase gamma (family A) signature
UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098Similarity: Belongs to the DNA polymerase type-A family |
Function
for POLG gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098Function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNACatalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1) Genatlas biochemistry entry for POLG:polymerase,(DNA directed) gamma,139.5kDa mitochondrial,with a (CAG)n repeat in the first exon,not altered in disorderswith mitochondrial genome instability
Enzyme Number (IUBMB): EC 2.7.7.71 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POLG (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POLG (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): POLG (NM_001126131) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for POLG | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLG |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLG |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
POLG for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for POLG:
Animal Models:
Mouse knock-out Polgtm1.2Lrsn for POLG
15/18 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Polg) (see all 18):
POLG for phenotypes About GeneDecksing
|
Pathways & Interactions
for POLG gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cell Cycle Control of Chromosomal Replication | | | 2 | Nucleotide Metabolism | | | 3 | Metabolism | | | 4 | Chks in Checkpoint Regulation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for POLG
1  BioSystems Pathway for POLG
1 
Kegg Pathway (Kegg details for POLG):
POLG for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POLG
STRING Interaction
Network Preview (showing 5 interactants - click image to see 15)
5/82 Interacting proteins for POLG (P540981, 2, 3 ENSP000002681244) via UniProtKB, MINT, STRING, and/or I2D (see all 82)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
POLG for ontologies About GeneDecksing
|
Drugs & Compounds
for POLG gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
POLG for compounds About GeneDecksing
 Browse Tocris compounds for POLG
7 HMDB Compounds for POLG About this table
10/32 Novoseek chemical compound relationships for POLG gene (see all 32) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nucleoside |
79.6 |
40 |
19287302 (3), 10949849 (1), 19364868 (1), 15319672 (1) (see all 34) |
| stavudine |
72.7 |
4 |
19364868 (2), 15373054 (1), 14767983 (1) |
| dgtp |
68.2 |
2 |
17354649 (1), 1921985 (1) |
| diethyl dithiocarbamate |
67 |
7 |
15373054 (1), 14767983 (1), 17452351 (1), 18375634 (1) (see all 5) |
| zidovudine |
66.5 |
6 |
18504416 (1), 1671889 (1), 1748434 (1), 8156147 (1) (see all 6) |
| dttp |
64.9 |
4 |
2164928 (3) |
| fiau |
64.7 |
2 |
8622980 (2) |
| didanosine |
62.3 |
2 |
15373054 (1), 14767983 (1) |
| ddttp |
60.2 |
3 |
1691020 (1), 11077262 (1) |
| triphosphate |
54.1 |
4 |
8293572 (3), 11376566 (1) |
Search CenterWatch for drugs/clinical trials and news about POLG / DPOG1
|
Transcripts
for POLG gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for POLG gene (2 alternative transcripts): NM_001126131.1 NM_002693.2 Unigene Cluster for POLG: Polymerase (DNA directed), gamma Hs.706868 [show with all ESTs]Unigene Representative Sequence: BC05055913 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000268124(uc002bns.4 uc002bnr.4) ENST00000442287 ENST00000530292
ENST00000526671 ENST00000530715 ENST00000528881 ENST00000532584 ENST00000526314
ENST00000526398 ENST00000526573 ENST00000533857 ENST00000532363 ENST00000525806
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POLG (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POLG (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): POLG (NM_001126131) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for POLG | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLG |
Additional cDNA sequence: AK130624.1 AK291281.1 AL110092.1 BC042571.1 BC050559.1 D84103.1 U60325.1 X98093.1 11 DOTS entries: DT.100715141 DT.217586 DT.99943140 DT.104041 DT.100780765 DT.91774945 DT.91774938 DT.95253535 DT.121036080 DT.100658680 DT.40216758 24/196 AceView cDNA sequences (see all 196): BM468562 AI436164 BE255263 AW105114 BE741449 BC042571 AA934352 CA437790 BU687809 BQ687473 NM_002693 AL048608 AA806858 BU508425 BE535189 X98093 AW192997 AI865047 BG259445 BQ688760 BQ691447 BM699635 AK130624 U60325
GeneLoc Exon Structure
5/22 Alternative Splicing Database (ASD) splice patterns (SP) for POLG (see all 22) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | |
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for POLG
|
Expression
for POLG gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| POLG expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTGATGCA
About this image
See POLG Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POLG
SOURCE GeneReport for Unigene cluster: Hs.706868
SABiosciences Custom PCR Arrays for POLG
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POLG
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat POLG | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLG | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLG | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLG |
Orthologs
for POLG gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for POLG gene from 8/27 species (see all 27) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Polg1 , 5 |
polymerase (DNA directed), gamma1, 5 |
87.32(n)1
88.09(a)1 |
|
7 (45.04 cM)5
189751 NM_017462.21 NP_059490.21
794487915 |
chicken
(Gallus gallus) |
Aves |
POLG1 |
polymerase (DNA directed), gamma |
74.42(n)
75.03(a) |
|
404292 XM_425079.3 XP_425079.3 |
lizard
(Anolis carolinensis) |
Reptilia |
POLG6 |
-- |
71(a) |
1 ↔ 1 |
GL343444.1(277965-323012) |
African clawed frog
(Xenopus laevis) |
Amphibia |
LOC3978512 |
DNA polymerase gamma |
75.04(n) |
|
U49509.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.197902 |
Transcribed sequence with weak similarity to protein more |
77.37(n) |
|
BM775631.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
tam1 , 3 |
DNA dependent DNA replication 3'-5'
exodeoxyribonuclease3
tamas1 |
44(a)3
54.15(n)1
49.67(a)1 |
|
2 34D63
347921 NM_057473.31 NP_476821.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
Y57A10A.153 |
-- |
37(a) |
|
II(12189777-12199859) -- |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
MIP1(YOR330C)4
MIP11 |
Catalytic subunit of the mitochondrial DNA polymerase; more4
Mip1p1 |
49.27(n)1
44.68(a)1 |
|
15(943385-939621)4
8545081, 4 NP_014975.21, 4 |
ENSEMBL Gene Tree for POLG (if available)
TreeFam Gene Tree for POLG (if available) |
Paralogs
for POLG gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for POLG gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098Polymorphism: The poly-Gln region seems to be polymorphic
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for POLG (89859534 - 89878092 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for POLG
1 CNV: 72351
1 Indel: 25575
Human Gene Mutation Database (HGMD): POLG
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POLG |
|
Disorders
/ Diseases
for POLG gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
POLG for disorders About GeneDecksing
OMIM gene information: 174763
OMIM disorders: 258450 157640 613662 203700 607459
UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098
Defects in POLG are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletionsautosomal dominant type 1 (PEOA1) [MIM:157640]. Progressive external ophthalmoplegia is characterized by progressiveweakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated withskeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability andeven permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion ofchronic 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 Defects in POLG are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomalrecessive (PEOB) [MIM:258450]. PEOB is a severe form of progressive external ophthalmoplegia. It is clinically moreheterogeneous than the autosomal dominant forms. Can be more severe Defects in POLG are a cause of sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459].SANDO is a systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion inskeletal 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 alsoinclude myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/orseizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia,dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood Defects in POLG are the cause of mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]; alsocalled Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis. An autosomal recessivehepatocerebral syndrome. 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, andacute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathologicalhallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results showsteatosis, often progressing to cirrhosis Defects in POLG are the cause of mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662]; alsoknown as mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathysyndrome POLG-related. An autosomal recessive progressive multisystem disorder clinically characterized by chronicgastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensoryataxic neuropathy, and muscle weakness Defects in POLG are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disordercharacterized by bilaterally symmetrical necrotic lesions in subcortical brain regions
20/78  diseases for POLG (see all 78): About MalaCardssensory ataxic neuropathy, dysarthria, and ophthalmoparesis progressive external ophthalmoplegia with mitochondrial dna deletions sensory ataxic neuropathy mitochondrial recessive ataxia syndrome (includes sando and scae)
ophthalmoplegia mitochondrial dna depletion syndrome autosomal dominant progressive external ophthalmoplegia charcot-marie-tooth disease
neuropathy polg-related disorders intestinal pseudo-obstruction chronic progressive external ophthalmoplegia
status epilepticus premature menopause alpers syndrome peripheral nervous system disease
cerebral folate deficiency type 1 diabetes mellitus mitochondrial encephalomyopathy testicular germ cell cancer
9 diseases from the University of Copenhagen DISEASES database for POLG:Chronic progressive external ophthalmoplegia Neuropathy Brain disease Lactic acidosis
Spinocerebellar ataxia Myopathy Mitochondrial encephalomyopathy Leigh disease
Male infertility 10/38 Novoseek disease relationships for POLG gene (see all 38) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| alpers syndrome |
96.8 |
44 |
16545482 (4), 15929042 (2), 16177225 (2), 18294203 (2) (see all 24) |
| progressive external ophthalmoplegia |
94.8 |
43 |
12210792 (2), 12707443 (2), 12825077 (2), 12565911 (2) (see all 32) |
| mitochondrial diseases |
89.3 |
29 |
16401742 (3), 20083238 (2), 15913923 (2), 19251978 (1) (see all 21) |
| mngie |
83.8 |
7 |
12825077 (2), 19942242 (1), 19252805 (1) |
| acidosis lactic |
75 |
9 |
12859329 (1), 15373054 (1), 18680693 (1), 11508132 (1) (see all 6) |
| mitochondrial myopathies |
74.2 |
5 |
16155436 (1), 1324428 (1), 20399836 (1), 8156147 (1) (see all 5) |
| lipodystrophy |
68.6 |
19 |
19275594 (6), 15905734 (1) |
| myopathy |
65.2 |
3 |
15477547 (1), 15917273 (1), 8293572 (1) |
| coenzyme q10 deficiency |
63.4 |
2 |
16155436 (1), 17053512 (1) |
| infertility male |
62.1 |
13 |
15650046 (2), 11687794 (2), 18798765 (1), 14688158 (1) (see all 8) |
Genetic Association Database (GAD): POLG
Human Genome Epidemiology (HuGE) Navigator: POLG (37 documents)
Export disorders for POLG gene to outside databases
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Publications
for POLG gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for POLG gene, integrated from 9 sources (see all 346):
(articles sorted by number of sources associating them with POLG) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (PubMed id 12975295)1, 2, 4, 9 Filosto M....DiMauro S. (2003)
- Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. (PubMed id 14688158)1, 4, 9 Jensen M....Rajpert-De Meyts E. (2004)
- Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. (PubMed id 15351195)1, 2, 9 Luoma P.... Suomalainen A. (2004)
- Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. (PubMed id 16401742)1, 2, 9 Gonzalez-Vioque E.... Martin M.A. (2006)
- Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. (PubMed id 16639411)1, 2, 9 Naimi M....Paquis-Flucklinger V. (2006)
- Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (PubMed id 18828154)1, 2, 9 Taanman J.-W....Schapira A.H.V. (2009)
- POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. (PubMed id 15477547)1, 2, 9 Van Goethem G.... Van Broeckhoven C. (2004)
- Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). (PubMed id 9465903)1, 3, 9 Zullo S.J....Merril C.R. (1997)
- Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study. (PubMed id 15650046)1, 4, 9 Aknin-Seifer I.E....Levy R. (2005)
- The clinical significance of the POLG gene polymorphism in male infertility. (PubMed id 15356024)1, 4, 9 Krausz C....Forti G. (2004)
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External Searches for POLG gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing POLG gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing POLG gene
(According to HUGE)
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Specialized Databases showing POLG gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for POLG | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POLG | | NIEHS-SNPs | http://egp.gs.washington.edu/data/polg/ |
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| Patent Information for POLG gene:
Search GeneIP for patents involving POLG
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for POLG gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for POLG | | OriGene shRNA RFP for POLG | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLG | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POLG | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for POLG | | OriGene 3'-UTR Clone for POLG | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POLG | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POLG | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat POLG | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POLG | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLG | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLG | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLG | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLG |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLG |
|  |  |  | | | | ThermoFisher Antibody for POLG |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLG |
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