• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FANCD2 (HGNC:3585) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FA complementation group D2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FACD, FANCD
Alias symbols
FAD, FA-D2
%HI
32.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.89(Read more about gnomAD LOEUF score)
Cytoband
3p25.3
Genomic Coordinates
GRCh37/hg19: chr3:10068121-10143616 NCBI Ensembl UCSC
GRCh38/hg38: chr3:10026437-10101932 NCBI Ensembl UCSC
MANE Select Transcript
NM_001018115.3 ENST00000675286.1 (Read more about MANE Select)
Function
Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, o... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36028
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/09/2023

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Fanconi anemia complementation group D2 Monarch
HI Evidence Comments:
Biallelic mutations of FANCD2 cause Fanconi Anemia, which is characterized by bone marrow failure, cancer predisposition and a striking sensitivity to agents that induce crosslinks between the two complementary DNA strands (inter-strand crosslinks-ICL).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No triplosensitivity evidence has been found in literature searching, including the following papers: PMID: 30257459, PMID: 29193904, PMID: 28966006, PMID: 26085575, PMID: 23613520, and PMID: 23285130

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)