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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:113531682-113597017 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 52.78 cM, cytoband E3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    369 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2448480
protein coding gene Chr6:113531661-113597018 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031130
protein coding gene Chr6:116054162-116133544 (+)
A/J MGP_AJ_G0031099
protein coding gene Chr6:111608537-111675329 (+)
AKR/J MGP_AKRJ_G0031030
protein coding gene Chr6:114602325-114675930 (+)
BALB/cJ MGP_BALBcJ_G0031110
protein coding gene Chr6:111554686-111620923 (+)
C3H/HeJ MGP_C3HHeJ_G0030598
protein coding gene Chr6:69624859-69692480 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031569
protein coding gene Chr6:119056959-119127204 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028733
protein coding gene Chr6:108636559-108700914 (+)
CAST/EiJ MGP_CASTEiJ_G0030217
protein coding gene Chr6:115058931-115131137 (+)
CBA/J MGP_CBAJ_G0030796
protein coding gene Chr6:123757149-123836626 (+)
DBA/2J MGP_DBA2J_G0030949
protein coding gene Chr6:110688933-110758238 (+)
FVB/NJ MGP_FVBNJ_G0030903
protein coding gene Chr6:109691808-109759568 (+)
LP/J MGP_LPJ_G0031029
protein coding gene Chr6:116090022-116160957 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030937
protein coding gene Chr6:128019256-128090039 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031596
protein coding gene Chr6:114623084-114692717 (+)
PWK/PhJ MGP_PWKPhJ_G0029933
protein coding gene Chr6:109645575-109710945 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029761
protein coding gene Chr6:113434991-113499711 (+)
WSB/EiJ MGP_WSBEiJ_G0030301
protein coding gene Chr6:114994390-115066265 (+)



Homology
more
  • Human Ortholog
    FANCD2, FA complementation group D2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FANCD2, FA complementation group D2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FA4, FACD, FAD, FAD2, FA-D2, FANCD
  • Links
    NCBI Gene ID: 2177
    neXtProt AC: NX_Q9BXW9
    UniProt: Q9BXW9

  • Chr Location
    3p25.3; chr3:10026387-10101937 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 13212
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FANCD2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Fancd2 mouse models; 1 with human FANCD2 associations

Human Disease Mouse Models
      
IDs
View 5 models
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
    45 phenotypes from multigenic genotypes
    41 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000034023 Ensembl Gene Model | MGI Sequence Detail 65336 C57BL/6J ±  kb
transcript ENSMUST00000036340 Ensembl | MGI Sequence Detail 5512 Not Applicable  
polypeptide ENSMUSP00000045667 Ensembl | MGI Sequence Detail 1450 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 14

    Microarray probesets 5
Other
Accession IDs
less
MGI:1925497, MGI:2141547, MGI:2141730
References
more
  • Summaries
    All 84
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 11
    Phenotypes 41
  • 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:241332 Chen HR, et al., Cdk12 Regulates Neurogenesis and Late-Arising Neuronal Migration in the Developing Cerebral Cortex. Cereb Cortex. 2017 Mar 01;27(3):2289-2302

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
11/06/2018
MGI 6.13
The Jackson Laboratory