FANCD2 |
- 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)