MAD2L2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MAD2L2 (HGNC:6764) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mitotic arrest deficient 2 like 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MAD2B, REV7, POLZ2, FANCV
%HI
5.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.81(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:11734537-11751616 NCBI Ensembl UCSC
GRCh38/hg38: chr1:11674480-11691830 NCBI Ensembl UCSC
MANE Select Transcript
NM_006341.4 ENST00000376692.9 (Read more about MANE Select)
Function
Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of repl... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9565
ClinGen Curation ID:
CCID:007425
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/20/2023

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 28881617
    Dicks (2017) found a heterozygous splicing variant, c.594G>A (p.K198N) of MAD2L2 in a patient with high grade serous ovarian cancer (HGSOC) after reviewing whole exome sequencing data for a Cancer Genome Atlas Project. This project considered FANCM as a likely susceptibility gene for HGSOC after reviewing sequencing data for twelve DNA repair genes (including MAD2L2) from 4,508 ovarian cancer cases and 3,368 controls.
HI Evidence Comments:
A homozygous missense variant in MAD2L2 have been reported once in a patient with Fanconi Anemia, Group V, an autosomal recessive condition (Bluteau 2016)(PMID: 27500492).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)