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Fancd2 Gene Detail
Summary
  • Symbol
    Fancd2
  • Name
    Fanconi anemia, complementation group D2
  • Synonyms
    2410150O07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448480
    NCBI Gene: 211651
  • Gene Overview
    MyGene.info: FANCD2
Location & Maps
more
  • Sequence Map
    Chr6:113531682-113597017 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      65336 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FANCD2, Fanconi anemia complementation group D2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FANCD2, Fanconi anemia complementation group D2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FA4, FACD, FAD, FAD2, FA-D2, FANCD
  • Links
    NCBI Gene ID: 2177
    neXtProt AC: NX_Q9BXW9

  • Chr Location
    3p26; chr3:10026387-10101932 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fancd2 mouse models; 2 with human FANCD2 associations

Human Disease Mouse Models
       Fanconi Anemia, Complementation Group D2; FANCD2   OMIM: 227646 View 5 models
       Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 2 alleles in 5 genetic backgrounds
    41 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    31
  • Gene trapped
    27
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Fancd2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    369 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000007333 Fanconi anemia group D2 protein
  • PDB
  • InterPro Domains
    IPR016024 Armadillo-type fold
    IPR029448 Fanconi anaemia protein FANCD2
Molecular
Reagents
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  • All nucleic 13
    cDNA 13

    Microarray probesets 5
Other
Accession IDs
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MGI:1925497, MGI:2141547, MGI:2141730
References
more
  • Summaries
    All 65
    Developmental Gene Expression 2
    Diseases 3
    Gene Ontology 10
    Phenotypes 31
  • 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:229449 Lachaud C, et al., Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability. Science. 2016 Feb 19;351(6275):846-9

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
05/17/2016
MGI 6.03
The Jackson Laboratory