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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:113508643-113573978 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 52.78 cM, cytoband E3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1839 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 Chr6:113508622-113573981 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FANCD2, FA complementation group D2
  • Synonyms
    FA4, FACD, FAD, FA-D2, FAD2, FANCD
  • Links
    NCBI Gene ID: 2177
    neXtProt AC: NX_Q9BXW9
    UniProt: Q9BXW9

  • Chr Location
    3p25.3; chr3:10026370-10101932 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fancd2 mouse models; 3 with human FANCD2 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    48 phenotypes from 4 alleles in 8 genetic backgrounds
    46 phenotypes from multigenic genotypes
    64 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
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
neoplasm
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
less
  • All GO Annotations
    36
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    716
  • Tissues
    6
  • cDNA Data
    14
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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 15
      cDNA 14
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1925497, MGI:2141547, MGI:2141730
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 13
      Diseases 4
      Gene Ontology 11
      Phenotypes 64
    • 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:353355 Yao X, et al., BCAS2 regulates oocyte meiotic prophase I by participating in mRNA alternative splicing. FASEB J. 2024 Jan;38(1):e23361
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory