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 instab... See more...

Aliases for FANCD2 Gene

Aliases for FANCD2 Gene

  • FA Complementation Group D2 2 3 5
  • Fanconi Anemia Complementation Group D2 2 3
  • Fanconi Anemia Group D2 Protein 3 4
  • FACD 3 4
  • Protein FACD2 4
  • FA-D2 3
  • FANCD 3
  • FAD2 3
  • FA4 3
  • FAD 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 (FA 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. Gene Ontology (GO) annotations related to this gene include binding and DNA polymerase binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FANCD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCD2 Gene

Genomics for FANCD2 Gene

GeneHancer (GH) Regulatory Elements for FANCD2 Gene

Promoters and enhancers for FANCD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCD2

Top Transcription factor binding sites by QIAGEN in the FANCD2 gene promoter:
  • AP-4
  • c-Myb
  • FAC1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • p53

Genomic Locations for FANCD2 Gene

Genomic Locations for FANCD2 Gene
chr3:10,026,387-10,101,932
(GRCh38/hg38)
Size:
75,546 bases
Orientation:
Plus strand
chr3:10,068,098-10,143,614
(GRCh37/hg19)
Size:
75,517 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 (PubMed:11239454, PubMed:12093742, PubMed:12649160, PubMed:12874027, PubMed:15115758, PubMed:15199141, PubMed:15257300, PubMed:15694335, PubMed:17412408, PubMed:17460694, PubMed:18212739, PubMed:18469862, PubMed:20603015, PubMed:20603016, PubMed:20603073). Interacts with POLN (PubMed:19995904).
    Miscellaneous:
    • [Isoform 1]: Less abundant than isoform 2, may be not functional.
    SequenceCaution:
    • Sequence=BAB14132.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FANCD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCD2 Gene

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 Lys53, Lys78, Lys133, Lys156, Lys181, Lys261, Lys561, Lys723, Lys913, and Lys1390
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FANCD2 Gene

Domains & Families for FANCD2 Gene

Gene Families for FANCD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FANCD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FANCD2 Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia group D2 protein (FACD2_HUMAN)

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.

Phenotypes From GWAS Catalog for FANCD2 Gene

Gene Ontology (GO) - Molecular Function for FANCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12874027
GO:0070182 DNA polymerase binding IPI 19995904
genes like me logo Genes that share ontologies with FANCD2: view
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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCD2 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoli (3)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FANCD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IBA 21873635
GO:0005634 nucleus IDA,IBA 26323318
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FANCD2: view

Pathways & Interactions for FANCD2 Gene

PathCards logo

SuperPathways for FANCD2 Gene

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

Pathways by source for FANCD2 Gene

1 KEGG pathway for FANCD2 Gene
2 GeneGo (Thomson Reuters) pathways for FANCD2 Gene
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
5 Qiagen pathways for FANCD2 Gene
  • ATM Pathway
  • BRCA1 Pathway
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for FANCD2 Gene
1 GeneTex pathway for FANCD2 Gene

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:0006281 DNA repair IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0007129 synapsis IEA --
GO:0007276 gamete generation IEA --
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

mRNA/cDNA for FANCD2 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FANCD2 Gene

GeneLoc Exon Structure for
FANCD2

Expression for FANCD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FANCD2 Gene



Protein tissue co-expression partners for FANCD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCD2

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.

Evidence on tissue expression from TISSUES for FANCD2 Gene

  • Blood(4.4)
  • Lung(4.3)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCD2: view

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
chimpanzee
(Pan troglodytes)
Mammalia FANCD2 31 30
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FANCD2 31 30
  • 88.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FANCD2 31 30
  • 86.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancd2 30
  • 81.34 (n)
mouse
(Mus musculus)
Mammalia Fancd2 17 31 30
  • 81.03 (n)
oppossum
(Monodelphis domestica)
Mammalia FANCD2 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves FANCD2 31 30
  • 64.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCD2 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancd2 30
  • 62.88 (n)
zebrafish
(Danio rerio)
Actinopterygii fancd2 31 30
  • 59.02 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fancd2 31 30
  • 40.9 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011769 30
  • 40.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G14970 30
  • 46.36 (n)
rice
(Oryza sativa)
Liliopsida Os07g0154400 30
  • 43.31 (n)
Species where no ortholog for FANCD2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FANCD2: view image

Paralogs 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCD2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
565427 Uncertain Significance: Fanconi anemia 10,074,624(+) A/G MISSENSE_VARIANT
565505 Uncertain Significance: Fanconi anemia 10,064,775(+) G/A MISSENSE_VARIANT
567161 Uncertain Significance: Fanconi anemia 10,032,913(+) T/G MISSENSE_VARIANT
571261 Uncertain Significance: Fanconi anemia 10,094,362(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
571594 Uncertain Significance: Fanconi anemia 10,078,203(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FANCD2 Gene

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

Variant ID Type Subtype PubMed ID
dgv762e201 CNV deletion 23290073
esv2724891 CNV deletion 23290073
esv4117 OTHER complex 18987735
nsv1013567 CNV loss 25217958
nsv1013605 CNV loss 25217958
nsv1073204 CNV deletion 25765185
nsv1078896 OTHER inversion 25765185
nsv1121603 CNV deletion 24896259
nsv1136706 CNV deletion 24896259
nsv1139088 CNV deletion 24896259
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297
nsv521391 CNV loss 19592680
nsv523205 CNV loss 19592680
nsv589648 CNV loss 21841781
nsv963293 CNV duplication 23825009
nsv966989 CNV duplication 23825009

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)

Additional Variant Information for FANCD2 Gene

Human Gene Mutation Database (HGMD)
FANCD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCD2

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

Disorders for FANCD2 Gene

MalaCards: The human disease database

(32) MalaCards diseases for FANCD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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.

Additional Disease Information for FANCD2

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

No data available for Genatlas for FANCD2 Gene

Publications for FANCD2 Gene

  1. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PMID: 19536649) Barroso E … Ribas G (Breast cancer research and treatment 2009) 3 23 41 54
  2. Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression. (PMID: 18475298) Hays LE … Bagby GC (British journal of cancer 2008) 2 3 23 54
  3. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. (PMID: 17460694) Sims AE … Huang TT (Nature structural & molecular biology 2007) 3 4 23 54
  4. Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage. (PMID: 15671039) Ohashi A … Couch FJ (The Journal of biological chemistry 2005) 3 4 23 54
  5. The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. (PMID: 15661754) Howlett NG … Glover TW (Human molecular genetics 2005) 3 4 23 54

Products for FANCD2 Gene