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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:24238817-24257969 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 19.39 cM, cytoband C1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    939 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 Chr19:24236909-24257969 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FXN, frataxin
  • Synonyms
    CyaY, FA, FARR, FRDA, X25
  • Links
    NCBI Gene ID: 2395
    neXtProt AC: NX_Q16595
    UniProt: Q16595

  • Chr Location
    9q21.11; chr9:69035751-69079076 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fxn mouse models; 4 with human FXN associations

Human Disease Mouse Models
      
IDs
 View 8 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    72 phenotypes from 7 alleles in 4 genetic backgrounds
    24 phenotypes from multigenic genotypes
    95 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.
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. Homozygosity for the p.G127V mutation leads to increased pre-weaning mortality and affects cell cycles and mitochondrial morphology and physiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    80
  • GO References
    21
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
    789
  • Tissues
    69
  • cDNA Data
    35
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000059363 Ensembl Gene Model | MGI Sequence Detail 19153 C57BL/6J ±  kb
    transcript ENSMUST00000081333 Ensembl | MGI Sequence Detail 1114 Not Applicable  
    polypeptide ENSMUSP00000080081 Ensembl | 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 139
      Developmental Gene Expression 3
      Diseases 6
      Gene Ontology 21
      Phenotypes 95
    • 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:353562 Della Valle I, et al., Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia. Genes Dis. 2024 Nov;11(6):101178
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory