FANCD2

Information FANCD2

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]

Full Name

FA complementation group D2

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
1
Biotypes
1
Peaks
1,883
Non-redundant peaks
1,883

TF Classification

Super Class
NA
Class
NA
Familly
NA
Sub Familly
NA

Source TFClass

External IDs

NCBI Gene
2177
Official Gene Name
FANCD2
JASPAR
Ensembl
ENSG00000144554
UniProt
Q9BXW9
Genevisible
Q9BXW9
RefSeq
NM_001018115
Aliases
FA-D2; FA4; FACD; FAD; FAD2; FANCD
All peaks FANCD2
Download BED file
Non redundant peaks FANCD2
Download BED file
SEQUENCES FANCD2
Download FASTA file
DOWNLOAD All ReMap
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Datasets Table for FANCD2

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
FANCD2 U2OS APH_treated GEO Homo sapiens GSE104464 1,883
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks