About   Help   FAQ
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 western clawed frog; 1 zebrafish

HCOP human homology predictions: FXN
Gene Tree: Fxn

Human
homologs
FXN, frataxin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2395
neXtProt AC: NX_Q16595

Human Synonyms: CyaY, FA, FARR, FRDA, X25

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

Disease Associations: (1) Diseases Associated with Human FXN

Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Endonuclease-mediated(1) Gene trapped(7) Targeted(5) Transgenic(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Fxn (1)    Mutations Annotated to Human Diseases (5)   
Interactions
Fxn interacts with 104 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (50 annotations)
Process adult walking behavior, aerobic respiration, ...
Component cell, cytoplasm, ...
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 66
Northern blot 11
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100497789    NEW 
Molecular
reagents
All nucleic(35) cDNA(35)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000031872 (Evidence)
Ensembl Gene Model ENSMUSG00000059363 (Evidence)
Entrez Gene 14297 (Evidence)
UniGene 7319
DFCI TC1598847, TC1596071, TC1581196
DoTS DT.99846058, DT.55100782, DT.87058971
NIA Mouse Gene Index U038925
EC 1.16.3.1
Consensus CDS Project CCDS29711.1
International Mouse Phenotyping Consortium Status Fxn
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:217862 Anjomani Virmouni S, et al., A novel GAA repeat expansion-based mouse model of Friedreich ataxia. Dis Model Mech. 2015 Feb 13;
All references(67)
Disease annotation references (7)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory