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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
Location & Maps
more
  • Sequence Map
    Chr19:24261453-24280605 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19153 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 19.39 cM, cytoband C1
  • Mapping Data
    1 experiment
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

  • Chr Location
    9q21.11; chr9:69035563-69100178 (+)  GRCh38.p2

  • 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
       Friedreich Ataxia 1; FRDA   OMIM: 229300 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 4 alleles in 2 genetic backgrounds
    24 phenotypes from multigenic genotypes
    42 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.
  • All Mutations and Alleles
    17
  • Endonuclease-mediated
    1
  • Gene trapped
    7
  • Targeted
    5
  • Transgenic
    4
  • Incidental Mutations
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
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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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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 OTTMUSG00000031872 VEGA Gene Model | MGI Sequence Detail 19153 C57BL/6J ±  kb
transcript OTTMUST00000079025 VEGA | MGI Sequence Detail 1114 Not Applicable  
polypeptide OTTMUSP00000042113 VEGA | MGI Sequence Detail 207 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    261 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 35
    cDNA 35

    Microarray probesets 3
References
more
  • Summaries
    All 68
    Developmental Gene Expression 2
    Diseases 11
    Gene Ontology 13
    Phenotypes 42
  • 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:232478 Molla B, et al., Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. Dis Model Mech. 2016 Apr 14;

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
11/22/2016
MGI 6.06
The Jackson Laboratory