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Fxn
Gene Detail
 Symbol
Name
ID
Fxn
frataxin
MGI:1096879
Synonyms Frda
Feature Type protein coding gene
Genetic Map
Chromosome 19
19.39 cM, cytoband C1
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr19:24261453-24280605 bp, - strand
From VEGA annotation of GRCm38

  19153 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:47908  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Fxn

Human
homologs
Human Homolog FXN, frataxin
NCBI Gene ID 2395
neXtProt AC  NX_Q16595
Human Synonyms  CyaY, FA, FARR, FRDA, X25
Human Chr (Location)  9q21.11; chr9:69035563-69100178 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human FXN
Alleles
and
phenotypes
All alleles(12) : Gene trapped(7) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Fxn (1)    Alleles Annotated to Human Diseases(3)   
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process adult walking behavior, aerobic respiration, ...
Component cytoplasm, cytosol, ...
Function 2 iron, 2 sulfur cluster binding, enzyme binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (77)    Tissues (68)   
Theiler Stages: 13, 16, 17, 20, 22, 24, 26, 28
Assay TypeResults
RNA in situ 66
Northern blot 11
cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(35) cDNA(35)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031872 (Evidence)
Ensembl Gene ModelENSMUSG00000059363 (Evidence)
Entrez Gene14297 (Evidence)
UniGene7319
DFCITC1581196, TC1596071, TC1598847
DoTSDT.55100782, DT.87058971, DT.99846058
NIA Mouse Gene IndexU038925
EC1.16.3.1
Consensus CDS ProjectCCDS29711.1
International Mouse Knockout Project StatusFxn
Sequences
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 sequences
All sequences(37) RefSeq(2) UniProt(5)
Polymorphisms SNPs within 2kb(263 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017789 Frataxin
InterPro IPR020895 Frataxin conserved site
InterPro IPR002908 Frataxin/CyaY
Protein Ontology PR:000007710 frataxin, mitochondrial
References (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:202178 Jones J, et al., Stem cells from wildtype and friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells. PLoS One. 2013;8(5):e62807
All references(61)

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
07/15/2014
MGI 5.18
The Jackson Laboratory