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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

FANCD2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the FANCD2 gene?

The official name of this gene is “Fanconi anemia, complementation group D2.”

FANCD2 is the gene's official symbol. The FANCD2 gene is also known by other names, listed below.

What is the normal function of the FANCD2 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2177):

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]

From UniProt (http://www.uniprot.org/uniprot/Q9BXW9):

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, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.

How are changes in the FANCD2 gene related to health conditions?

Genetics Home Reference provides information about Fanconi anemia, which is associated with changes in the FANCD2 gene.
UniProt (http://www.uniprot.org/uniprot/Q9BXW9) provides the following information about the FANCD2 gene's known or predicted involvement in human disease.

Fanconi anemia complementation group D2 (FANCD2): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2177) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the FANCD2 gene.
  • Fanconi anemia, complementation group D2
  • Tracheoesophageal fistula
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the FANCD2 gene and its association with health conditions.
OMIM
Number
Title

Where is the FANCD2 gene located?

Cytogenetic Location: 3p26

Molecular Location on chromosome 3: base pairs 10,026,383 to 10,101,929

The FANCD2 gene is located on the short (p) arm of chromosome 3 at position 26.

The FANCD2 gene is located on the short (p) arm of chromosome 3 at position 26.

More precisely, the FANCD2 gene is located from base pair 10,026,383 to base pair 10,101,929 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FANCD2?

You and your healthcare professional may find the following resources about FANCD2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FANCD2 gene or gene products?

  • FA4
  • FACD
  • FAD
  • FAD2
  • FA-D2
  • FANCD

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FANCD2?

alternative splicing ; anemia ; bone marrow ; cardiac ; cell ; cell division ; chromatin ; chromosome ; DNA ; DNA damage ; DNA repair ; fistula ; gene ; homologs ; homology ; immunoglobulin ; isoforms ; meiosis ; predisposition ; protein ; recessive ; renal ; splicing ; stress ; thrombopenia ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: November 24, 2014