Information on MAD2L2
Basic details
Alt. symbols: MAD2B | REV7 | POLZ2 | FANCV
Approved name: mitotic arrest deficient 2 like 2
Alt. names: MAD2 (mitotic arrest deficient, yeast, homolog)-like 2 | mitotic arrest deficient homolog-like 2, polymerase (DNA-directed), zeta 2, accessory subunit
Location: 1p36.22: 11657230 - 11691811 (-)
Gene type: protein_coding, 13 transcripts.
Scores: LoFtool: 0.395000 | pLI: 0.20250587 | LOEUF: 0.717
Normal function
Dysfunction and disease
?Fanconi anemia, complementation group V [MIM:617243] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCV |
Fanconi anemia, complementation group V | AR |
617243 |
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 MAD2L2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 207 | ENST00000376692.9 | CCDS134 | Select | protein_coding | 9 | Yes | 1053 | NM_006341 | |
| 204 | ENST00000376667.7 | CCDS134 | protein_coding | 9 | No | 872 | NM_001127325 |
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 MAD2L2
| ID | Year | Title | Journal | PMID | Variants |
|---|