FANCD2

GENE INFORMATION

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Gene name

FANCD2 (HGNC Symbol)

Synonyms

FA-D2, FACD, FAD, FANCD

Description

Fanconi anemia, complementation group D2 (HGNC Symbol)

Entrez gene summary

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 two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

3

Cytoband

p25.3

Chromosome location (bp)

10026414 - 10101930

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000144554 (version 78.38)

Entrez gene

2177

UniProt

Q9BXW9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BXW9

Antibodypedia

FANCD2 antibodies
 

PROTEIN VIEW

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FANCD2-001
 
FANCD2-002
 
FANCD2-003
 
FANCD2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FANCD2-001 ENSP00000287647
ENST00000287647
Q9BXW9
Show all »
Show » Show » 1471 166.5 No 0
FANCD2-002 ENSP00000398754
ENST00000419585
Q9BXW9
Show all »
Show » Show » 1451 164.1 No 0
FANCD2-003 ENSP00000399354
ENST00000431693
Q9BXW9
Show all »
Show » Show » 241 27.5 No 0
FANCD2-201 ENSP00000373318
ENST00000383807
Q9BXW9
Show all »
Show » Show » 1451 164.1 No 0