Information on POLD2
Basic details
Alt. symbols:
Approved name: DNA polymerase delta 2, accessory subunit
Alt. names: polymerase (DNA directed), delta 2, regulatory subunit (50kD), polymerase (DNA directed), delta 2, regulatory subunit 50kDa, polymerase (DNA) delta 2, accessory subunit | Pol delta B subunit (p50), DNA polymerase delta subunit p50
Location: 7p13: 44114631 - 44124358 (-)
Gene type: protein_coding, 68 transcripts.
Scores: LoFtool: 0.639000 | pLI: 0.04432439 | LOEUF: 0.692
Normal function
to be updated
Dysfunction and disease
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[Reviewed by Elisa Benetti on 2024-10-10 13:45:00]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CID14B |
Combined immunodeficiency 14B | AR |
- | 1 (1 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 POLD2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000406581.6 | CCDS5477 | protein_coding | 12 | No | 2158 | NM_001256879 | ||
| 218 | ENST00000610533.6 | CCDS5477 | Select | protein_coding | 11 | Yes | 1619 | NM_006230 | |
| 203 | ENST00000418438.2 | protein_coding | 11 | No | 556 | XM_047420497 | |||
| ENST00000698945.1 | CCDS5477 | protein_coding | 10 | No | XM_047420500 | ||||
| ENST00000698946.1 | CCDS5477 | protein_coding | 12 | No | XM_047420499 | ||||
| ENST00000698947.1 | CCDS5477 | protein_coding | 11 | No | NM_001127218 |
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 POLD2
| ID | Year | Title | Journal | PMID | Variants |
|---|