FANCD2
Encyclopedia
Fanconi anemia group D2 protein is a protein
that in humans is encoded by the FANCD2 gene
. The Fanconi anemia complementation group (FANC) currently includes FANCA
, FANCB
, FANCC, FANCD1
(also called BRCA2), FANCD2 (this gene), FANCE
, FANCF
, FANCG
, and FANCL
.
is a genetically heterogeneous recessive disorder characterized by chromosomal 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 monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1
and BRCA2
) involved in homology-directed DNA repair. This monoubiquitination is required for interaction with the nuclease FAN1. Alternative splicing results in two transcript variants encoding different isoforms.
with:
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the FANCD2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. The Fanconi anemia complementation group (FANC) currently includes FANCA
FANCA
Fanconi anemia, complementation group A, also known as FANCA, is a protein which in humans is encoded by the FANCA gene.- Function :...
, FANCB
FANCB
Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.-Further reading:...
, FANCC, FANCD1
BRCA2
BRCA2 is a protein that in humans is encoded by the BRCA2 gene.BRCA2 orthologs have been identified in most mammals for which complete genome data are available....
(also called BRCA2), FANCD2 (this gene), FANCE
FANCE
Fanconi anemia group E protein is a protein that in humans is encoded by the FANCE gene.-Interactions:FANCE has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCD2, FANCF and FANCA.-Further reading:...
, FANCF
FANCF
Fanconi anemia group F protein is a protein that in humans is encoded by the FANCF gene.-Interactions:FANCF has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCA and FANCE.-Further reading:...
, FANCG
FANCG
Fanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene.-Interactions:FANCG has been shown to interact with FANCF, FANCA, FANCE and BRCA2.-Further reading:...
, and FANCL
FANCL
E3 ubiquitin-protein ligase FANCL is an enzyme that in humans is encoded by the FANCL gene.-Further reading:...
.
Function
Fanconi anemiaFanconi anemia
Fanconi anemia is a genetic disease with an incidence of 1 per 350,000 births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa.FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair...
is a genetically heterogeneous recessive disorder characterized by chromosomal instability
Chromosome instability syndrome
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies....
, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair
DNA repair
DNA repair refers to a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as UV light and radiation can cause DNA damage, resulting in as many as 1...
. 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 monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1
BRCA1
BRCA1 is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA. The first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990...
and BRCA2
BRCA2
BRCA2 is a protein that in humans is encoded by the BRCA2 gene.BRCA2 orthologs have been identified in most mammals for which complete genome data are available....
) involved in homology-directed DNA repair. This monoubiquitination is required for interaction with the nuclease FAN1. Alternative splicing results in two transcript variants encoding different isoforms.
Clinical significance
Tobacco smoke suppresses the expression of FANCD2, which codes for a DNA damage "caretaker" or repair mechanism.Interactions
FANCD2 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with:
- Ataxia telangiectasia mutatedAtaxia telangiectasia mutatedAtaxia telangiectasia mutated is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis...
, - BARD1BARD1BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the BARD1 gene.-Interactions:BARD1 has been shown to interact with BRE, UBE2D1, CSTF2, BRCC3, RAD51, BCL3, TACC1, Ewing sarcoma breakpoint region 1, FANCD2, H2AFX, CSTF1, NPM1, BRCA2, BRCA1, P53 and Aurora B...
, - BRCA1BRCA1BRCA1 is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA. The first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990...
. - BRCA2BRCA2BRCA2 is a protein that in humans is encoded by the BRCA2 gene.BRCA2 orthologs have been identified in most mammals for which complete genome data are available....
, - FANCEFANCEFanconi anemia group E protein is a protein that in humans is encoded by the FANCE gene.-Interactions:FANCE has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCD2, FANCF and FANCA.-Further reading:...
, - HTATIPHTATIPHistone acetyltransferase KAT5 is an enzyme that in humans is encoded by the KAT5 gene.- Function :The protein encoded by this gene belongs to the MYST family of histone acetyl transferases and was originally isolated as an HIV-1 TAT-interactive protein...
, and - MEN1MEN1Menin is a protein that in humans is encoded by the MEN1 gene. Menin is a putative tumor suppressor associated with multiple endocrine neoplasia type 1....
.