Fxn (frataxin) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Fxn (frataxin) Mus musculus
Analyze
Symbol: Fxn
Name: frataxin
RGD ID: 1551716
MGI Page MGI
Description: Predicted to have several functions, including 2 iron, 2 sulfur cluster binding activity; ferroxidase activity; and iron ion binding activity. Involved in several processes, including adult walking behavior; negative regulation of organ growth; and proprioception. Localizes to mitochondrion. Is expressed in several structures, including brain; cartilage condensation; heart; hemolymphoid system; and lower jaw incisor. Used to study Friedreich ataxia. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; and type 2 diabetes mellitus. Orthologous to human FXN (frataxin); PARTICIPATES IN hypoxia inducible factor pathway; INTERACTS WITH 1,2-dimethylhydrazine; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FA; FARR; Fr; frataxin, mitochondrial; Frda; Friedreich ataxia; X25
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: Gm4325   Gm5037  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,236,909 - 24,257,954 (-)NCBIGRCm39mm39
GRCm39 Ensembl1924,238,817 - 24,257,969 (-)Ensembl
GRCm381924,259,545 - 24,280,590 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,261,453 - 24,280,605 (-)EnsemblGRCm38mm10GRCm38
MGSCv371924,335,943 - 24,355,076 (-)NCBIGRCm37mm9NCBIm37
MGSCv361924,328,550 - 24,347,683 (-)NCBImm8
Celera1925,027,779 - 25,046,379 (-)NCBICelera
Cytogenetic Map19BNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (ISO)
L-cysteine desulfurase complex  (ISO)
mitochondrion  (HDA,IBA,IDA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal action potential  (IAGP)
abnormal axon morphology  (IAGP)
abnormal dorsal root ganglion morphology  (IAGP)
abnormal embryo size  (IEA)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal enzyme/coenzyme level  (IAGP)
abnormal extraembryonic tissue morphology  (IAGP)
abnormal gait  (IAGP)
abnormal iron homeostasis  (IAGP)
abnormal lumbar dorsal root ganglion morphology  (IAGP)
abnormal mitochondrial biogenesis  (IAGP)
abnormal mitochondrial morphology  (IAGP)
abnormal motor coordination/balance  (IAGP)
abnormal myocardial fiber morphology  (IAGP)
abnormal nerve conduction  (IAGP)
abnormal respiratory electron transport chain  (IAGP)
ataxia  (IAGP)
brain inflammation  (IAGP)
cardiac fibrosis  (IAGP)
cardiac hypertrophy  (IAGP)
cardiomyopathy  (IEA)
chromatolysis  (IAGP)
decreased body length  (IAGP)
decreased body weight  (IAGP)
decreased cardiac muscle contractility  (IEA)
decreased cardiac output  (IAGP)
decreased embryo size  (IAGP)
decreased grip strength  (IAGP)
decreased heart rate  (IEA)
decreased nerve conduction velocity  (IAGP)
decreased ventricle muscle contractility  (IAGP)
dilated cardiomyopathy  (IAGP)
dilated heart left ventricle  (IAGP)
dilated mitochondria  (IAGP)
embryo tissue necrosis  (IAGP)
embryonic growth arrest  (IAGP)
embryonic lethality between implantation and somite formation, complete penetrance  (IAGP)
embryonic lethality prior to organogenesis  (IEA)
fatigue  (IAGP)
heart left ventricle hypertrophy  (IAGP)
hunched posture  (IAGP)
hypoactivity  (IAGP)
impaired coordination  (IAGP)
increased body weight  (IAGP)
increased embryonic tissue cell apoptosis  (IAGP)
increased heart iron level  (IAGP)
increased left ventricle weight  (IEA)
increased mitochondrial fission  (IAGP)
increased susceptibility to weight gain  (IAGP)
myocardium necrosis  (IAGP)
neurodegeneration  (IAGP)
neuron degeneration  (IAGP)
oxidative stress  (IAGP)
postnatal growth retardation  (IAGP)
premature death  (IAGP)
preweaning lethality, complete penetrance  (IEA)
prolonged PR interval  (IAGP)
spongiform encephalopathy  (IAGP)
thick interventricular septum  (IAGP)
thick ventricular wall  (IAGP)
weight loss  (IAGP)
References

Additional References at PubMed
PMID:9241270   PMID:9331900   PMID:9405681   PMID:10349636   PMID:10767347   PMID:10900192   PMID:11042159   PMID:11054533   PMID:11076861   PMID:11175786   PMID:11217851   PMID:11714098  
PMID:11852098   PMID:12140189   PMID:12477932   PMID:12880182   PMID:14610273   PMID:14985441   PMID:15028670   PMID:15170226   PMID:15233994   PMID:16141072   PMID:16141073   PMID:16278235  
PMID:16442805   PMID:16919418   PMID:17322295   PMID:17597094   PMID:18045775   PMID:18614015   PMID:18621680   PMID:19154341   PMID:19376812   PMID:19629184   PMID:19805308   PMID:20799613  
PMID:21267068   PMID:21397024   PMID:21863062   PMID:21873635   PMID:22052287   PMID:22113996   PMID:22394676   PMID:22447512   PMID:22736457   PMID:23039828   PMID:23169664   PMID:23350650  
PMID:23671637   PMID:23886890   PMID:24667739   PMID:24705334   PMID:24714088   PMID:25104852   PMID:25113747   PMID:25198290   PMID:25651183   PMID:25681319   PMID:25765157   PMID:26752519  
PMID:26954031   PMID:27079523   PMID:27106929   PMID:27516386   PMID:27537261   PMID:27575947   PMID:27901468   PMID:28286293   PMID:28444186   PMID:28504123   PMID:28542596   PMID:28724806  
PMID:28935570   PMID:29070698   PMID:29125827   PMID:29259026   PMID:29610276   PMID:30544254   PMID:31665133   PMID:31877117   PMID:31974344   PMID:32251310   PMID:32269244   PMID:32325033  
PMID:32586831   PMID:32636300   PMID:32978498   PMID:33017621  


Genomics

Comparative Map Data
Fxn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,236,909 - 24,257,954 (-)NCBIGRCm39mm39
GRCm39 Ensembl1924,238,817 - 24,257,969 (-)Ensembl
GRCm381924,259,545 - 24,280,590 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,261,453 - 24,280,605 (-)EnsemblGRCm38mm10GRCm38
MGSCv371924,335,943 - 24,355,076 (-)NCBIGRCm37mm9NCBIm37
MGSCv361924,328,550 - 24,347,683 (-)NCBImm8
Celera1925,027,779 - 25,046,379 (-)NCBICelera
Cytogenetic Map19BNCBI
FXN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl969,035,751 - 69,079,076 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl969,035,563 - 69,100,178 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl969,035,747 - 69,255,187 (+)EnsemblGRCh38hg38GRCh38
GRCh38969,035,752 - 69,079,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37971,650,668 - 71,693,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,840,164 - 70,878,772 (+)NCBINCBI36hg18NCBI36
Celera942,245,805 - 42,311,090 (+)NCBI
Cytogenetic Map9q21.11NCBI
HuRef941,495,732 - 41,559,839 (+)NCBIHuRef
CHM1_1971,797,667 - 71,861,767 (+)NCBICHM1_1
Fxn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21221,874,007 - 221,897,841 (-)NCBI
Rnor_6.0 Ensembl1242,123,975 - 242,152,834 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01242,123,975 - 242,152,834 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01249,419,972 - 249,426,597 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01249,400,435 - 249,400,757 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,647,092 - 227,671,081 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1219,085,510 - 219,108,749 (-)NCBICelera
Cytogenetic Map1q51NCBI
Fxn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554343,980,653 - 4,008,761 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554343,983,225 - 4,008,324 (-)NCBIChiLan1.0ChiLan1.0
FXN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1967,800,579 - 67,865,945 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl967,800,579 - 67,866,031 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0955,690,483 - 55,754,755 (-)NCBIMhudiblu_PPA_v0panPan3
FXN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1188,288,566 - 88,311,228 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl188,288,566 - 88,311,228 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha188,755,862 - 88,778,465 (-)NCBI
ROS_Cfam_1.0188,835,320 - 88,857,379 (-)NCBI
UMICH_Zoey_3.1188,490,664 - 88,513,141 (-)NCBI
UNSW_CanFamBas_1.0188,197,072 - 88,219,719 (-)NCBI
UU_Cfam_GSD_1.0188,962,061 - 88,984,873 (-)NCBI
Fxn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947135,829,799 - 135,849,798 (-)NCBI
SpeTri2.0NW_0049365035,323,206 - 5,343,228 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FXN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,412,500 - 222,461,943 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,412,485 - 222,433,224 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
FXN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11280,133,899 - 80,173,950 (+)NCBI
ChlSab1.1 Ensembl1280,134,422 - 80,173,168 (+)Ensembl
Fxn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247364,027,054 - 4,047,881 (-)NCBI

Position Markers
D5Mit392.1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7A3UniSTS
Cytogenetic Map18A1UniSTS
Cytogenetic Map1G3UniSTS
Cytogenetic Map9A3UniSTS
Cytogenetic Map7F1UniSTS
Cytogenetic Map5C1UniSTS
Cytogenetic Map4D2.2UniSTS
Cytogenetic Map16A3UniSTS
Cytogenetic Map11E2UniSTS
Cytogenetic Map16B2UniSTS
Cytogenetic Map6F1UniSTS
Cytogenetic Map4B1UniSTS
Cytogenetic Map17DUniSTS
Cytogenetic Map14C3UniSTS
Cytogenetic Map5C3.3UniSTS
Cytogenetic Map18A2UniSTS
Cytogenetic MapXF5UniSTS
Cytogenetic Map2G3UniSTS
Cytogenetic Map7A2UniSTS
Cytogenetic Map12A1.1UniSTS
Cytogenetic Map1H6UniSTS
Cytogenetic Map7D3UniSTS
Cytogenetic Map1G2UniSTS
Cytogenetic MapXF3UniSTS
Cytogenetic Map4D3UniSTS
Cytogenetic Map2F3UniSTS
Cytogenetic Map2A3UniSTS
Cytogenetic Map4D1UniSTS
Cytogenetic Map15A1UniSTS
Cytogenetic Map1A2UniSTS
Cytogenetic Map13A3.1UniSTS
Cytogenetic Map11B4UniSTS
Cytogenetic Map1D2.3UniSTS
Cytogenetic Map19C1UniSTS
Cytogenetic Map10D3UniSTS
Cytogenetic Map2H2UniSTS
Cytogenetic Map2E1UniSTS
cM Map528.0UniSTS
Whitehead Genetic518.6UniSTS
D4S2924  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381924,270,410 - 24,271,354UniSTSGRCm38
MGSCv371924,344,900 - 24,345,844UniSTSGRCm37
Celera1925,039,509 - 25,040,453UniSTS
Cytogenetic Map19C1UniSTS


QTLs in Region (GRCm38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301271Datd_mdopamine transporter density (mouse)Not determined19132362870Mouse
4142406Pbctlp1_mperipheral blood cytotoxic T lymphocyte percentage 1 (mouse)Not determined132897810Mouse
1300904Chab5_mcholesterol absorption 5 (mouse)Not determined19167640035676563Mouse
26884385Skwq14_mskull length QTL 14, 16 week (mouse)19320000035900000Mouse
1300923Bits4_mbitterness sensitivity 4 (mouse)Not determined19334585237345984Mouse
1301800Faq10_mfluctuating asymmetry QTL 10 (mouse)Not determined19334585237345984Mouse
1300591Pas3_mpulmonary adenoma susceptibility 3 (mouse)Not determined19334585237345984Mouse
1302126Skull26_mskull morphology 26 (mouse)Not determined19334585237345984Mouse
11039522Tbbr4_mTrypanosoma brucei brucei response 4 (mouse)19533596239336106Mouse
1301228Iba4_minduction of brown adipocytes 4 (mouse)Not determined19932831543328421Mouse
1302019Pgia23_mproteoglycan induced arthritis 23 (mouse)Not determined19981005343810202Mouse
14928311Manh85_mmandible shape 85 (mouse)191193738945937389Mouse
10413881Moe2_mmodifier of epilepsy 2 (mouse)191494561648945738Mouse
1301336Alcp23_malcohol preference locus 23 (mouse)Not determined191593520749935319Mouse
1301633Alcp24_malcohol preference locus 24 (mouse)Not determined191593520749935319Mouse
1302004Lfp2_mlong free running period 2 (mouse)Not determined191831776252317981Mouse
1302063Eae19_mexperimental allergic encephalomyelitis 19 (mouse)Not determined191831776252317981Mouse
4142343Moen2_mmodifier of engrailed QTL 2 (mouse)Not determined192025691554257062Mouse
10412251Mnp_mmodifier of Niemann Pick type C1 (mouse)Not determined192025691554257062Mouse
1301197Tlyr1_mthymic lymphoma resistance 1 (mouse)Not determined192056216425336432Mouse
4141659Pbwg20_mpostnatal body weight growth 20 (mouse)Not determined192139025755390480Mouse
1357596Tgct3_mtesticular germ cell tumor 3 (mouse)Not determined192200672732935319Mouse
1558876W3q14_mweight 3 weeks QTL 14 (mouse)Not determined192233596253923073Mouse

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:639
Count of miRNA genes:309
Interacting mature miRNAs:337
Transcripts:ENSMUST00000081333, ENSMUST00000123684, ENSMUST00000132688
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000081333   ⟹   ENSMUSP00000080081
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl1924,261,453 - 24,280,605 (-)Ensembl
RefSeq Acc Id: ENSMUST00000123684   ⟹   ENSMUSP00000117047
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl1924,261,501 - 24,280,568 (-)Ensembl
RefSeq Acc Id: ENSMUST00000132688
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl1924,261,862 - 24,278,171 (-)Ensembl
RefSeq Acc Id: NM_008044   ⟹   NP_032070
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391924,236,909 - 24,257,954 (-)NCBI
GRCm381924,259,545 - 24,280,590 (-)NCBI
MGSCv371924,335,943 - 24,355,076 (-)RGD
Celera1925,027,779 - 25,046,379 (-)RGD
cM Map19 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_157400
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391924,236,909 - 24,257,954 (-)NCBI
GRCm381924,259,545 - 24,280,590 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_032070   ⟸   NM_008044
- Peptide Label: precursor
- UniProtKB: O35943 (UniProtKB/Swiss-Prot),   Q3TV21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSMUSP00000080081   ⟸   ENSMUST00000081333
RefSeq Acc Id: ENSMUSP00000117047   ⟸   ENSMUST00000123684

Promoters
RGD ID:13679132
Promoter ID:EPDNEW_M23715
Type:initiation region
Name:Fxn_1
Description:Mus musculus frataxin , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381924,280,571 - 24,280,631EPDNEW
RGD ID:6830046
Promoter ID:MM_KWN:26696
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   BoneMarrow_2Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   Spleen
Transcripts:OTTMUST00000079025,   OTTMUST00000079026
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361924,354,746 - 24,355,262 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1096879 AgrOrtholog
Ensembl Genes ENSMUSG00000059363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSMUSP00000080081 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUSP00000117047 UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000081333 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUST00000123684 UniProtKB/TrEMBL
Gene3D-CATH 3.30.920.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Frataxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frataxin/CyaY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frataxin/CyaY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frataxin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:14297 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1096879 ENTREZGENE
NCBI Gene 14297 ENTREZGENE
PANTHER PTHR16821 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Frataxin_Cyay UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Fxn PhenoGen
PRINTS FRATAXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FRATAXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FRATAXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Frataxin_Cyay UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55387 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs FeS_CyaY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mito_frataxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9Q2P9_MOUSE UniProtKB/TrEMBL
  FRDA_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q3TV21 ENTREZGENE, UniProtKB/TrEMBL
  Q3UG34_MOUSE UniProtKB/TrEMBL
  Q6PDS4_MOUSE UniProtKB/TrEMBL