Information on POLE2
Basic details
Alt. symbols: DPE2
Approved name: DNA polymerase epsilon 2, accessory subunit
Alt. names: polymerase (DNA directed), epsilon 2 (p59 subunit), polymerase (DNA) epsilon 2, accessory subunit | DNA polymerase epsilon subunit B
Location: 14q21.3: 49643555 - 49688422 (-)
Gene type: protein_coding, 13 transcripts.
Scores: LoFtool: 0.830000 | pLI: 0.00015336 | LOEUF: 0.764
Normal function
Dysfunction and disease
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[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
POLE2D |
Polymerase ? subunit 2 deficiency | AR |
- | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of POLE2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000216367.10 | CCDS32073 | Select | protein_coding | 19 | Yes | 1692 | NM_001348384,NM_001348385,NM_002692 | |
| 206 | ENST00000554396.6 | CCDS55915 | protein_coding | 17 | No | 1581 | NM_001197331 | ||
| 202 | ENST00000539565.6 | CCDS55914 | protein_coding | 18 | No | 1792 | NM_001197330 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in POLE2
| ID | Year | Title | Journal | PMID | Variants |
|---|