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; chr9:71650479-71715094 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human FXN

Alleles and phenotypes

All alleles(12) : Targeted(5) Gene trapped(7)
 

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: (50 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 Type	Results
RNA in situ	66
Northern blot	11

cDNA source data(36)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(37) cDNA(37)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031872 (Evidence)
Ensembl Gene Model	ENSMUSG00000059363 (Evidence)
Entrez Gene	14297 (Evidence)
UniGene	7319
DFCI	TC1581196, TC1596071, TC1598847
DoTS	DT.55100782, DT.87058971, DT.99846058
NIA Mouse Gene Index	U038925
EC	1.16.3.1
Consensus CDS Project	CCDS29711.1
International Mouse Knockout Project Status	Fxn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031872	VEGA Gene Model | MGI Sequence Detail	19153	C57BL/6J
transcript	OTTMUST00000079025	VEGA | MGI Sequence Detail	1114	Not Applicable
polypeptide	OTTMUSP00000042113	VEGA | MGI Sequence Detail	207	Not Applicable

All sequences(37) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(124 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192681 Martelli A, et al., Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia. Dis Model Mech. 2012 Nov;5(6):860-9
All references(59)