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Fancc Gene Detail
Summary
  • Symbol
    Fancc
  • Name
    Fanconi anemia, complementation group C
  • Synonyms
    Facc
  • Feature Type
    protein coding gene
  • IDs
    MGI:95480
    NCBI Gene: 14088
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:63452519-63645126 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 32.80 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4727 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95480
 protein coding gene Chr13:63432857-63645126 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020669
 protein coding gene Chr13:63264802-63462263 (-)
A/J MGP_AJ_G0020623
 protein coding gene Chr13:60962968-61155707 (-)
AKR/J MGP_AKRJ_G0020600
 protein coding gene Chr13:63012139-63205302 (-)
BALB/cJ MGP_BALBcJ_G0020621
 protein coding gene Chr13:61391400-61590555 (-)
C3H/HeJ MGP_C3HHeJ_G0020416
 protein coding gene Chr13:62544768-62730717 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021057
 protein coding gene Chr13:65333723-65535307 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018633
 protein coding gene Chr13:58642955-58821741 (-)
CAST/EiJ MGP_CASTEiJ_G0019933
 protein coding gene Chr13:62540296-62736195 (-)
CBA/J MGP_CBAJ_G0020376
 protein coding gene Chr13:67853303-68057225 (-)
DBA/2J MGP_DBA2J_G0020501
 protein coding gene Chr13:60805892-61002913 (-)
FVB/NJ MGP_FVBNJ_G0020480
 protein coding gene Chr13:59923225-60113744 (-)
LP/J MGP_LPJ_G0020575
 protein coding gene Chr13:63541612-63748638 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020509
 protein coding gene Chr13:66819482-67023831 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021099
 protein coding gene Chr13:62316772-62517401 (-)
PWK/PhJ MGP_PWKPhJ_G0019687
 protein coding gene Chr13:60364164-60556557 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019513
 protein coding gene Chr13:60465064-60664794 (-)
WSB/EiJ MGP_WSBEiJ_G0019993
 protein coding gene Chr13:62799952-62991301 (-)



Homology
more
  • Human Ortholog
    FANCC, FA complementation group C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FANCC, FA complementation group C
  • Synonyms
    FA3, FAC, FACC
  • Links
    NCBI Gene ID: 2176
    neXtProt AC: NX_Q00597
    UniProt: Q00597

  • Chr Location
    9q22.32; chr9:95099054-95426796 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fancc mouse models; 7 with human FANCC associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 2 alleles in 3 genetic backgrounds
    17 phenotypes from multigenic genotypes
    73 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 null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    10
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
    815
  • Tissues
    87
  • cDNA Data
    15
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14088 NCBI Gene Model | MGI Sequence Detail 192608 C57BL/6J ±  kb
    transcript NM_001347515 RefSeq | MGI Sequence Detail 3332 C57BL/6  
    polypeptide P50652 UniProt | EBI | MGI Sequence Detail 591 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 1
      cDNA 16
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9707, MGI:2145472
    References
    more
    • Summaries
      All 114
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 10
      Phenotypes 73
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:326162 Lin Q, et al., Hematopoietic stem cell regeneration through paracrine regulation of the Wnt5a/Prox1 signaling axis. J Clin Invest. 2022 Jun 15;132(12):e155914
    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)
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    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