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Fxn Gene Detail
Summary
  • Symbol
    Fxn
  • Name
    frataxin
  • Synonyms
    Frda
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096879
    NCBI Gene: 14297
  • Gene Overview
    MyGene.info: FXN
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:24261453-24280586 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 19.39 cM, cytoband C1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    260 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1096879
protein coding gene Chr19:24261453-24280605 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024993
protein coding gene Chr19:22475434-22499502 (-)
A/J MGP_AJ_G0024970
protein coding gene Chr19:21243902-21263646 (-)
AKR/J MGP_AKRJ_G0024940
protein coding gene Chr19:22053113-22071586 (-)
BALB/cJ MGP_BALBcJ_G0024969
protein coding gene Chr19:21291353-21313315 (-)
C3H/HeJ MGP_C3HHeJ_G0024726
protein coding gene Chr19:22006685-22032960 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025410
protein coding gene Chr19:23179649-23204775 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022829
protein coding gene Chr19:21415695-21433073 (-)
CAST/EiJ MGP_CASTEiJ_G0024195
protein coding gene Chr19:21761102-21781494 (-)
CBA/J MGP_CBAJ_G0024704
protein coding gene Chr19:24214485-24234456 (-)
DBA/2J MGP_DBA2J_G0024836
protein coding gene Chr19:21247315-21269059 (-)
FVB/NJ MGP_FVBNJ_G0024797
protein coding gene Chr19:21119305-21139492 (-)
LP/J MGP_LPJ_G0024920
protein coding gene Chr19:22424661-22452428 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024824
protein coding gene Chr19:24223535-24252784 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025465
protein coding gene Chr19:22054122-22074194 (-)
PWK/PhJ MGP_PWKPhJ_G0023943
protein coding gene Chr19:20849673-20873312 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023748
protein coding gene Chr19:21286544-21307742 (-)
WSB/EiJ MGP_WSBEiJ_G0024262
protein coding gene Chr19:22084529-22112179 (-)



Homology
more
  • Human Ortholog
    FXN, frataxin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FXN, frataxin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CyaY, FA, FARR, FRDA, X25
  • Links
    NCBI Gene ID: 2395
    neXtProt AC: NX_Q16595
    UniProt: Q16595

  • Chr Location
    9q21.11; chr9:69035563-69100178 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 47908
    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: FXN
  • Gene Tree
    Fxn
Human Diseases
more
  • Diseases
    1 with Fxn mouse models; 1 with human FXN associations

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

  • Mutations/Alleles
    7 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 8 alleles in 5 genetic backgrounds
    24 phenotypes from multigenic genotypes
    54 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.
Homozygotes for a targeted null mutation exhibit early post-implantation lethality, in the absence of intramitochondrial iron accumulation. Conditional knockouts, specific to striated muscle and neuron/striated muscle, show cardiac hypertrophy and large sensory neuron dysfunction, respectively.
Gene Ontology
(GO)
Classifications
less
  • 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14297 NCBI Gene Model | MGI Sequence Detail 19134 C57BL/6J ±  kb
    transcript NR_157400 RefSeq | MGI Sequence Detail 3050 C57BL/6  
    polypeptide O35943 UniProt | EBI | MGI Sequence Detail 207 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 36

      Microarray probesets 3
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 3
      Diseases 4
      Gene Ontology 15
      Phenotypes 54
    • Earliest
      J:42050 Koutnikova H, et al., Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997 Aug;16(4):345-51
    • Latest
      J:264015 Roy AR, et al., The transcriptional regulator CCCTC-binding factor limits oxidative stress in endothelial cells. J Biol Chem. 2018 Jun 1;293(22):8449-8461

    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