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Fancd2
Gene Detail
Symbol

Name
ID
Fancd2
Fanconi anemia, complementation group D2
MGI:2448480
Synonyms
2410150O07Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 6
52.78 cM, cytoband E3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:113531682-113597017 bp, + strand
From VEGA annotation of GRCm38

  65336 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:13212  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Fancd2

Human
homologs
Human Homolog FANCD2, Fanconi anemia, complementation group D2
NCBI Gene ID 2177
neXtProt AC  NX_Q9BXW9
Human Synonyms  FA4, FACD, FAD, FAD2, FA-D2, FANCD
Human Chr (Location)  3p26; chr3:10026384-10101930 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human FANCD2
Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Gene trapped(27) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.
 
Human Diseases Modeled Using Mouse Fancd2 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Fancd2 interacts with 155 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process cell cycle, cellular response to DNA damage stimulus, ...
Component condensed chromosome, Golgi apparatus, ...
Function DNA polymerase binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(13)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000023488 (Evidence)
Ensembl Gene ModelENSMUSG00000034023 (Evidence)
Entrez Gene211651 (Evidence)
NIA Mouse Gene IndexU042764
PDB3S4W
Consensus CDS ProjectCCDS20426.1
International Mouse Knockout Project StatusFancd2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023488 VEGA Gene Model | MGI Sequence Detail 65336 C57BL/6J ±  kb
transcript OTTMUST00000057162 VEGA | MGI Sequence Detail 5512 Not Applicable 
polypeptide OTTMUSP00000027552 VEGA | MGI Sequence Detail 1450 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(10) UniProt(11)
Polymorphisms
SNPs within 2kb(370 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016024 Armadillo-type fold
Protein Ontology PR:000007333 Fanconi anemia group D2 protein
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:213861 Peng M, et al., Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses. EMBO J. 2014 Aug 1;33(15):1698-712
All references(63)
Disease annotation references (1)
Other
accession IDs
MGI:1925497, MGI:2141547, MGI:2141730

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory