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Aliases for FANCD2 Gene

Aliases for FANCD2 Gene

  • Fanconi Anemia Complementation Group D2 2 3 5
  • FACD 3 4
  • Fanconi Anemia, Complementation Group D2 3
  • Protein FACD2 4
  • FANCD 3
  • FA-D2 3
  • FAD2 3
  • FAD 3
  • FA4 3

External Ids for FANCD2 Gene

Previous HGNC Symbols for FANCD2 Gene

  • FACD
  • FANCD

Previous GeneCards Identifiers for FANCD2 Gene

  • GC03P009997
  • GC03P010043
  • GC03P010008
  • GC03P010068

Summaries for FANCD2 Gene

Entrez Gene Summary for FANCD2 Gene

  • 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]

GeneCards Summary for FANCD2 Gene

FANCD2 (Fanconi Anemia Complementation Group D2) is a Protein Coding gene. Diseases associated with FANCD2 include Fanconi Anemia, Complementation Group D2 and Fanconi Anemia, Complementation Group A. Among its related pathways are ERK Signaling and Gene Expression. GO annotations related to this gene include binding and DNA polymerase binding.

UniProtKB/Swiss-Prot for FANCD2 Gene

  • 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.

Gene Wiki entry for FANCD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCD2 Gene

Genomics for FANCD2 Gene

Regulatory Elements for FANCD2 Gene

Enhancers for FANCD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FANCD2 on UCSC Golden Path with GeneCards custom track

Promoters for FANCD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FANCD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FANCD2 Gene

Chromosome:
3
Start:
10,026,387 bp from pter
End:
10,101,932 bp from pter
Size:
75,546 bases
Orientation:
Plus strand

Genomic View for FANCD2 Gene

Genes around FANCD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCD2 Gene

Proteins for FANCD2 Gene

  • Protein details for FANCD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXW9-FACD2_HUMAN
    Recommended name:
    Fanconi anemia group D2 protein
    Protein Accession:
    Q9BXW9
    Secondary Accessions:
    • Q2LA86
    • Q69YP9
    • Q6PJN7
    • Q9BQ06
    • Q9H9T9

    Protein attributes for FANCD2 Gene

    Size:
    1451 amino acids
    Molecular mass:
    164128 Da
    Quaternary structure:
    • Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo.
    SequenceCaution:
    • Sequence=BAB14132.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FANCD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCD2 Gene

Proteomics data for FANCD2 Gene at MOPED

Post-translational modifications for FANCD2 Gene

  • Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1.
  • Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation.
  • Ubiquitination at Lys 53, Lys 78, Lys 133, Lys 156, Lys 181, Lys 261, Lys 561, Lys 723, Lys 913, and Lys 1390
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FANCD2 Gene

Domains & Families for FANCD2 Gene

Gene Families for FANCD2 Gene

Protein Domains for FANCD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FANCD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXW9

UniProtKB/Swiss-Prot:

FACD2_HUMAN :
  • The C-terminal 24 residues of isoform 2 are required for its function.
Domain:
  • The C-terminal 24 residues of isoform 2 are required for its function.
genes like me logo Genes that share domains with FANCD2: view

Function for FANCD2 Gene

Molecular function for FANCD2 Gene

UniProtKB/Swiss-Prot Function:
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.
genes like me logo Genes that share phenotypes with FANCD2: view

Human Phenotype Ontology for FANCD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCD2 Gene

MGI Knock Outs for FANCD2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for FANCD2 Gene

Localization for FANCD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCD2 Gene

Nucleus. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCD2 Gene COMPARTMENTS Subcellular localization image for FANCD2 gene
Compartment Confidence
nucleus 5
golgi apparatus 2
cytoskeleton 1
cytosol 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FANCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with FANCD2: view

Pathways & Interactions for FANCD2 Gene

genes like me logo Genes that share pathways with FANCD2: view

SIGNOR curated interactions for FANCD2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FANCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FANCD2: view

Drugs & Compounds for FANCD2 Gene

(7) Drugs for FANCD2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for FANCD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FANCD2: view

Transcripts for FANCD2 Gene

Unigene Clusters for FANCD2 Gene

Fanconi anemia, complementation group D2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FANCD2 Gene

No ASD Table

Relevant External Links for FANCD2 Gene

GeneLoc Exon Structure for
FANCD2
ECgene alternative splicing isoforms for
FANCD2

Expression for FANCD2 Gene

mRNA expression in normal human tissues for FANCD2 Gene

mRNA differential expression in normal tissues according to GTEx for FANCD2 Gene

This gene is overexpressed in Testis (x6.2).

Protein differential expression in normal tissues from HIPED for FANCD2 Gene

This gene is overexpressed in Lung (35.7), Bone (15.1), and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FANCD2 Gene



SOURCE GeneReport for Unigene cluster for FANCD2 Gene Hs.208388

mRNA Expression by UniProt/SwissProt for FANCD2 Gene

Q9BXW9-FACD2_HUMAN
Tissue specificity: Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes.
genes like me logo Genes that share expression patterns with FANCD2: view

Protein tissue co-expression partners for FANCD2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FANCD2 Gene

Orthologs for FANCD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FANCD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FANCD2 35
  • 86.53 (n)
  • 81.74 (a)
FANCD2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCD2 35
  • 88.44 (n)
  • 86.19 (a)
FANCD2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancd2 35
  • 81.03 (n)
  • 75.3 (a)
Fancd2 16
Fancd2 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FANCD2 35
  • 99.24 (n)
  • 99.24 (a)
FANCD2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancd2 35
  • 81.34 (n)
  • 76.18 (a)
oppossum
(Monodelphis domestica)
Mammalia FANCD2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 54 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves FANCD2 35
  • 64.32 (n)
  • 57.85 (a)
FANCD2 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCD2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancd2 35
  • 62.88 (n)
  • 59.79 (a)
zebrafish
(Danio rerio)
Actinopterygii fancd2 35
  • 59.02 (n)
  • 54.71 (a)
fancd2 36
  • 46 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011769 35
  • 40.71 (n)
  • 28.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta Fancd2 35
  • 40.9 (n)
  • 26.17 (a)
Fancd2 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G14970 35
  • 46.36 (n)
  • 32.95 (a)
rice
(Oryza sativa)
Liliopsida Os07g0154400 35
  • 43.31 (n)
  • 30.41 (a)
Species with no ortholog for FANCD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCD2 Gene

ENSEMBL:
Gene Tree for FANCD2 (if available)
TreeFam:
Gene Tree for FANCD2 (if available)

Paralogs for FANCD2 Gene

Pseudogenes.org Pseudogenes for FANCD2 Gene

genes like me logo Genes that share paralogs with FANCD2: view

No data available for Paralogs for FANCD2 Gene

Variants for FANCD2 Gene

Sequence variations from dbSNP and Humsavar for FANCD2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_022559 Fanconi anemia complementation group D2 (FANCD2)
VAR_022560 Fanconi anemia complementation group D2 (FANCD2)
rs3864017 - 10,064,848(-) TCACC(A/G)GACCC nc-transcript-variant, reference, missense
VAR_022562 Fanconi anemia complementation group D2 (FANCD2)
rs34691009 - 10,032,865(+) GACAA(A/G)GAAAT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FANCD2 Gene

Variant ID Type Subtype PubMed ID
esv2724891 CNV Deletion 23290073
nsv876525 CNV Gain 21882294
nsv523205 CNV Loss 19592680
dgv809e201 CNV Deletion 23290073
nsv521391 CNV Loss 19592680
esv1001314 CNV Gain 20482838
nsv436362 CNV Deletion 17901297
nsv436869 CNV Insertion 17901297
esv4117 CNV Complex 18987735

Variation tolerance for FANCD2 Gene

Residual Variation Intolerance Score: 22.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCD2 Gene

Human Gene Mutation Database (HGMD)
FANCD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCD2 Gene

Disorders for FANCD2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for FANCD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group d2
  • fanconi anemia complementation group d2
fanconi anemia, complementation group a
  • fanconi's anemia
fancd2-related fanconi anemia
ovarian solid teratoma
congenital hypoplastic anemia
  • congenital aplastic anemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FACD2_HUMAN
  • Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]: 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. {ECO:0000269 PubMed:11239453}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FANCD2

Genetic Association Database (GAD)
FANCD2
Human Genome Epidemiology (HuGE) Navigator
FANCD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCD2
genes like me logo Genes that share disorders with FANCD2: view

No data available for Genatlas for FANCD2 Gene

Publications for FANCD2 Gene

  1. Positional cloning of a novel Fanconi anemia gene, FANCD2. (PMID: 11239453) Timmers C. … Grompe M. (Mol. Cell 2001) 2 3 4 67
  2. Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression. (PMID: 18475298) Hays L.E. … Bagby G.C. (Br. J. Cancer 2008) 2 3 23
  3. Oxidative stress-specific interaction between FANCD2 and FOXO3a. (PMID: 20040763) Li J. … Pang Q. (Blood 2010) 3 23
  4. A role for monoubiquitinated FANCD2 at telomeres in ALT cells. (PMID: 19129235) Fan Q. … Andreassen P.R. (Nucleic Acids Res. 2009) 3 23
  5. FANCD2-deficient human fibroblasts are hypersensitive to ionising radiation at oxygen concentrations of 0% and 3% but not under normoxic conditions. (PMID: 19466639) Kuhnert V.M. … Willers H. (Int. J. Radiat. Biol. 2009) 3 23

Products for FANCD2 Gene

Sources for FANCD2 Gene

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