LongevityMap Gene

Gene details

HGNC symbol
FANCD2 
Aliases
FA4; FAD; FACD; FAD2; FA-D2; FANCD 
Common name
Fanconi anemia complementation group D2 
Description
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
OMIM
613984
Ensembl
ENSG00000144554
UniProt/Swiss-Prot
A0A024R2G2_HUMAN
Entrez Gene
2177
UniGene
208388
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
fcd-2
Danio rerio
fancd2
Drosophila melanogaster
Fancd2
Mus musculus
Fancd2
Rattus norvegicus
Fancd2

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Indentifier
rs3172417
Reference