| Type | Description |
|---|---|
| Definition | DNA polymerase gamma 2, accessory subunit |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:29:00 | The accessory subunit of human DNA polymerase gamma is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit. | 32470614 |
| 2021-03-28 19:07:00 | Consequences of compromised mitochondrial genome integrity. | 33087282 |
| 2019-02-16 10:41:00 | Compared to control fibroblasts, homozygous R182W p55 primary dermal fibroblasts exhibit a two-fold slower doubling time, reduced mtDNA copy number and reduced levels of POLG and POLG2 transcripts correlating with the reported disease state. Expression of R182W p55 in HEK293 cells impairs oxidative-phosphorylation. Biochemically, R182W p55 displays DNA binding and association with p140 similar to WT p55. | 30157269 |
| 2017-02-18 11:16:00 | This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion. | 27592148 |
| 2016-03-19 11:18:00 | Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes. | 26403317 |
| Type | IDs |
|---|---|
| Synonymous | HP55, MTPOLB, PEOA4, POLB, POLG-BETA, POLGB |
| Gene |
UniProtKB-ID:
DPOG2_HUMAN,
E5KS15_HUMAN
UniprotKB:
Q9UHN1,
E5KS15
UniParc:
UPI000012974A
EMBL:
HQ205838,
HQ205842,
HQ205861,
U94703,
AF142992,
HQ205831,
HQ205832,
HQ205848,
HQ205853,
HQ205851,
BC000913,
AF184344,
AF177201,
HQ205854,
BC009194,
HQ205863,
HQ205826,
HQ205841,
HQ205827,
HQ205837,
HQ205829,
CH471109,
HQ205834,
HQ205857,
HQ205850,
HQ205864,
HQ205830,
HQ205835,
HQ205849,
HQ205840,
HQ205843,
HQ205856,
HQ205860,
HQ205844,
HQ205865,
HQ205839,
HQ205846,
HQ205845,
HQ205859,
HQ205855,
HQ205847,
HQ205836,
HQ205828,
HQ205858,
HQ205862,
HQ205852
Ensembl:
ENSG00000256525
KO:
hsa:11232
|
| Nucleutide sequences |
EMBL-CDS:
AAD50382.1,
AAD56542.1,
AAH09194.1,
AAD56640.1,
AAC51321.1,
AAH00913.2,
ADP91709.1,
ADP91721.1,
ADP91708.1,
ADP91732.1,
ADP91733.1,
ADP91697.1,
ADP91714.1,
ADP91704.1,
ADP91712.1,
ADP91722.1,
ADP91695.1,
ADP91713.1,
ADP91726.1,
ADP91715.1,
ADP91699.1,
ADP91723.1,
ADP91706.1,
ADP91720.1,
ADP91711.1,
ADP91694.1,
ADP91730.1,
ADP91729.1,
ADP91710.1,
EAW94204.1,
ADP91702.1,
ADP91728.1,
ADP91716.1,
ADP91727.1,
ADP91718.1,
ADP91719.1,
ADP91703.1,
ADP91731.1,
ADP91698.1,
ADP91717.1,
ADP91705.1,
ADP91700.1,
ADP91724.1,
ADP91725.1,
ADP91707.1,
ADP91696.1
Gene_ORFName:
hCG_28169
Ensembl_TRS:
ENST00000539111
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000442563
RefSeq:
NP_009146.2
|
| Others |
UniRef100:
UniRef100_Q9UHN1
UniRef90:
UniRef90_Q9UHN1
UniRef50:
UniRef50_Q9UHN1
UniGene:
Hs.437009
CCDS:
CCDS32706.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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Ensembl: {{protein.proteinEnsembl}} |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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