Fxn (frataxin) - Rat Genome Database

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Gene: Fxn (frataxin) Rattus norvegicus
Analyze
Symbol: Fxn
Name: frataxin
RGD ID: 1565754
Description: Enables enzyme binding activity. Involved in several processes, including cellular response to glucose starvation; iron import into the mitochondrion; and positive regulation of axon extension. Located in mitochondrion. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; glioblastoma; and type 2 diabetes mellitus. Orthologous to human FXN (frataxin); PARTICIPATES IN hypoxia inducible factor pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4,6-trinitrotoluene; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: frataxin, mitochondrial; LOC499335; RGD1565754; similar to frataxin
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Fxn em1Fara   Fxn em2Fara  
Genetic Models: LE-Fxn em1Fara-/+ LE-Fxn em2Fara-/+/Rrrc LE-Fxn em2Fara-/+ LE-Fxn em1Fara-/+/Rrrc
Candidate Gene For: Arrd2
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81231,300,457 - 231,323,989 (-)NCBIGRCr8
mRatBN7.21221,874,007 - 221,897,543 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,872,420 - 221,897,540 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1230,329,217 - 230,352,686 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01237,259,279 - 237,282,748 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01230,077,299 - 230,100,759 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01242,123,975 - 242,152,834 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1242,123,975 - 242,152,834 (-)EnsemblRnor6.0rn6Rnor6.0
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 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1219,085,510 - 219,108,749 (-)NCBICelera
Cytogenetic Map1q51NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (EXP)
2-palmitoylglycerol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
7,8-dihydro-8-oxoguanine  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (ISO)
alpha-phellandrene  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
benzo[a]pyrene  (ISO)
betamethasone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
camptothecin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (EXP)
deferiprone  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (EXP,ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ferrostatin-1  (ISO)
finasteride  (EXP)
folic acid  (ISO)
gentamycin  (EXP)
hydrogen peroxide  (ISO)
indometacin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
ivermectin  (ISO)
lipopolysaccharide  (ISO)
methyl methanesulfonate  (ISO)
molsidomine  (ISO)
N-acetyl-L-cysteine  (ISO)
nimesulide  (EXP)
nimustine  (ISO)
oxaliplatin  (EXP)
ozone  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
resveratrol  (ISO)
retinyl acetate  (ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
sulindac  (EXP)
thioacetamide  (EXP)
toluene  (EXP)
topotecan  (EXP)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tungsten  (ISO)
urethane  (ISO)
valproic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Exonic deletions of FXN and early-onset Friedreich ataxia. Anheim M, etal., Arch Neurol. 2012 Jul;69(7):912-6. doi: 10.1001/archneurol.2011.834.
2. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Bulteau AL, etal., Science 2004 Jul 9;305(5681):242-5.
3. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Campuzano V, etal., Science. 1996 Mar 8;271(5254):1423-7.
4. G130V, a common FRDA point mutation, appears to have arisen from a common founder. Delatycki MB, etal., Hum Genet. 1999 Oct;105(4):343-6.
5. Clinical and genetic abnormalities in patients with Friedreich's ataxia. Durr A, etal., N Engl J Med. 1996 Oct 17;335(16):1169-75.
6. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
7. Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans. Hebinck J, etal., Diabetes. 2000 Sep;49(9):1604-7.
8. A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Kelly M, etal., J Mol Cell Cardiol. 2011 Nov;51(5):848-54. doi: 10.1016/j.yjmcc.2011.07.001. Epub 2011 Jul 12.
9. Dual role of the mitochondrial protein frataxin in astrocytic tumors. Kirches E, etal., Lab Invest. 2011 Dec;91(12):1766-76. doi: 10.1038/labinvest.2011.130. Epub 2011 Aug 22.
10. Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy. Melli G, etal., Exp Neurol. 2008 Dec;214(2):276-84. Epub 2008 Sep 9.
11. Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein. Mincheva-Tasheva S, etal., Hum Mol Genet. 2014 Apr 1;23(7):1829-41. doi: 10.1093/hmg/ddt576. Epub 2013 Nov 15.
12. Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia. Munoz-Zuluaga C, etal., Hum Gene Ther. 2023 Jul;34(13-14):605-615. doi: 10.1089/hum.2023.020. Epub 2023 Jul 4.
13. Cardioprotective HIF-1α-frataxin signaling against ischemia-reperfusion injury. Nanayakkara G, etal., Am J Physiol Heart Circ Physiol. 2015 Sep;309(5):H867-79. doi: 10.1152/ajpheart.00875.2014. Epub 2015 Jun 12.
14. Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism. Obis È, etal., Free Radic Biol Med. 2014 Aug;73:21-33. doi: 10.1016/j.freeradbiomed.2014.04.016. Epub 2014 Apr 18.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. Perdomini M, etal., Nat Med. 2014 May;20(5):542-7. doi: 10.1038/nm.3510. Epub 2014 Apr 6.
17. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
18. Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity. Pomplun D, etal., Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6377-81. Epub 2007 Apr 2.
19. Mitochondrial pore opening and loss of Ca2+ exchanger NCLX levels occur after frataxin depletion. Purroy R, etal., Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):618-631. doi: 10.1016/j.bbadis.2017.12.005. Epub 2017 Dec 6.
20. GOA pipeline RGD automated data pipeline
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene. Ristow M, etal., Diabetes. 1998 May;47(5):851-4.
24. Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. Ristow M, etal., J Clin Invest. 2003 Aug;112(4):527-34.
25. Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy. Salami CO, etal., Hum Gene Ther. 2020 Aug;31(15-16):819-827. doi: 10.1089/hum.2019.363.
26. Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter. Sarsero JP, etal., PLoS One. 2014 Mar 25;9(3):e93307. doi: 10.1371/journal.pone.0093307. eCollection 2014.
27. Increased Frataxin Levels Protect Retinal Ganglion Cells After Acute Ischemia/Reperfusion in the Mouse Retina In Vivo. Schultz R, etal., Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4115-24. doi: 10.1167/iovs.16-19260.
28. Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Stehling O, etal., Hum Mol Genet. 2004 Dec 1;13(23):3007-15. Epub 2004 Oct 27.
29. Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene. t Hart LM, etal., Diabetes. 1999 Apr;48(4):924-6.
30. A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model. Vyas PM, etal., Hum Mol Genet. 2012 Mar 15;21(6):1230-47. doi: 10.1093/hmg/ddr554. Epub 2011 Nov 23.
Additional References at PubMed
PMID:9405681   PMID:10767347   PMID:11175786   PMID:12785837   PMID:14651853   PMID:14985441   PMID:15123683   PMID:15641778   PMID:16278235   PMID:16608849   PMID:17285345   PMID:17468497  
PMID:17597094   PMID:18160053   PMID:18424449   PMID:18537827   PMID:18614015   PMID:20053667   PMID:29491838  


Genomics

Comparative Map Data
Fxn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81231,300,457 - 231,323,989 (-)NCBIGRCr8
mRatBN7.21221,874,007 - 221,897,543 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,872,420 - 221,897,540 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1230,329,217 - 230,352,686 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01237,259,279 - 237,282,748 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01230,077,299 - 230,100,759 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01242,123,975 - 242,152,834 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1242,123,975 - 242,152,834 (-)EnsemblRnor6.0rn6Rnor6.0
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 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1219,085,510 - 219,108,749 (-)NCBICelera
Cytogenetic Map1q51NCBI
FXN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38969,035,752 - 69,079,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl969,035,751 - 69,079,076 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,650,668 - 71,693,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,840,164 - 70,878,772 (+)NCBINCBI36Build 36hg18NCBI36
Celera942,245,805 - 42,311,090 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,495,732 - 41,559,839 (+)NCBIHuRef
CHM1_1971,797,667 - 71,861,767 (+)NCBICHM1_1
T2T-CHM13v2.0981,209,298 - 81,252,406 (+)NCBIT2T-CHM13v2.0
Fxn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,236,909 - 24,257,954 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1924,238,817 - 24,257,969 (-)EnsemblGRCm39 Ensembl
GRCm381924,259,545 - 24,280,590 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,261,453 - 24,280,605 (-)EnsemblGRCm38mm10GRCm38
MGSCv371924,335,943 - 24,355,076 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361924,328,550 - 24,347,683 (-)NCBIMGSCv36mm8
Celera1925,027,779 - 25,046,379 (-)NCBICelera
Cytogenetic Map19BNCBI
cM Map1919.39NCBI
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
NHGRI_mPanPan1-v21168,247,362 - 68,295,327 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1968,253,293 - 68,290,295 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0955,690,483 - 55,754,755 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1967,800,579 - 67,865,945 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl967,800,579 - 67,866,031 (+)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0188,835,320 - 88,857,379 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl188,835,320 - 88,857,379 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1188,490,664 - 88,513,141 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0188,197,072 - 88,219,719 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0188,962,061 - 88,984,873 (-)NCBIUU_Cfam_GSD_1.0
Fxn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947135,829,799 - 135,849,798 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365035,323,206 - 5,343,228 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FXN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,412,509 - 222,454,776 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,412,485 - 222,433,224 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
FXN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11280,133,899 - 80,173,950 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1280,134,422 - 80,173,168 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603868,540,612 - 68,580,635 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fxn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247364,027,354 - 4,047,854 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247364,027,054 - 4,047,881 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Fxn
328 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:136
Count of miRNA genes:92
Interacting mature miRNAs:95
Transcripts:ENSRNOT00000020412, ENSRNOT00000071614
Prediction methods:Microtar, 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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1578778Pur4Proteinuria QTL 43.30.003urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)1150700247252085048Rat
1354646Kidm18Kidney mass QTL 185.7kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1151162512256448636Rat
1357335Bw39Body weight QTL 393.3body mass (VT:0001259)body weight (CMO:0000012)1197814409242814409Rat
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
5508828Leukc3Leukocyte quantity QTL 3eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1218108584224054420Rat
2302378Insul11Insulin level QTL 113.25blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1144267353251128347Rat
61455Niddm7Non-insulin dependent diabetes mellitus QTL 75.5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1214537555238757011Rat
61327Eae7Experimental allergic encephalomyelitis QTL 75.6body mass (VT:0001259)change in body weight (CMO:0002045)1216255568260522016Rat
7794788Mcs32Mammary carcinoma susceptibility QTL 322.61mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)1115540693238914717Rat
1578763Kidm29Kidney mass QTL 293.30.0001kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1179567751260522016Rat
1600395Niddm69Non-insulin dependent diabetes mellitus QTL 694.140.0002blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1195804352257091168Rat
1354624Cm35Cardiac mass QTL355.7heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1177227632256448636Rat
1600396Niddm68Non-insulin dependent diabetes mellitus QTL 684.970.0003blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1558658Bw59Body weight QTL 593.50.0003body mass (VT:0001259)body weight (CMO:0000012)1178784622223784622Rat
1600397Edcs4Endometrial carcinoma susceptibility QTL 42.2uterus morphology trait (VT:0001120)percentage of study population developing endometrioid carcinoma during a period of time (CMO:0001759)1206081677251081677Rat
631838Niddm36Non-insulin dependent diabetes mellitus QTL 360.01insulin secretion trait (VT:0003564)calculated pancreatic islet insulin release measurement (CMO:0001217)1184550676229550676Rat
1549837Hcar15Hepatocarcinoma resistance QTL 150.05liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1153136852260522016Rat
1600388Niddm67Non-insulin dependent diabetes mellitus QTL 675.840.000004blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
2293694Bss38Bone structure and strength QTL 387.050.0001femur strength trait (VT:0010010)femur stiffness (CMO:0001674)1201554356246554356Rat
1578759Uae30Urinary albumin excretion QTL 303.30.003urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1150700247252085048Rat
8655655Arrd2Age-related retinal degeneration QTL 27.79retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1183970203243914901Rat
1358898Bp255Blood pressure QTL 2553.6arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1191019702246062233Rat
2300175Bmd40Bone mineral density QTL 4015.40.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)1201554356246554356Rat
731175Uae20Urinary albumin excretion QTL 203.50.0018urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1221264111259647894Rat
737828Hcas3Hepatocarcinoma susceptibility QTL 34.9liver integrity trait (VT:0010547)liver tumorous lesion volume to total liver volume ratio (CMO:0001082)1144267353222987745Rat
1354661Bw33Body weight QTL 335.2body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
724538Kidm1Kidney mass QTL 13.2kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1213707201252085212Rat
1358886Bp260Blood pressure QTL 2603.67arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1151162766225824951Rat
737977Bp160Blood pressure QTL 1600.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1181133855226133855Rat
2293655Bss36Bone structure and strength QTL 3610.660.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1201554356246554356Rat
1298084Thym4Thymus enlargement QTL 410.68thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1197814409242814409Rat
724531Uae5Urinary albumin excretion QTL 54urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)1150700142252085212Rat
8552891Epfw5Epididymal fat weight QTL 54.4epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)1193113876238113876Rat
734768Niddm59Non-insulin dependent diabetes mellitus QTL 59body mass (VT:0001259)body weight (CMO:0000012)1213843987258843987Rat
1358890Bp259Blood pressure QTL 2593.06arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1210702053260522016Rat
724533Rf51Renal function QTL 515.30.0002kidney plasma flow trait (VT:0005524)renal plasma flow (CMO:0001914)1218753816256448513Rat
1354580Scort1Serum corticosterone level QTL 13.4blood corticosterone amount (VT:0005345)blood corticosterone level (CMO:0001172)1156677124256448636Rat
1358292Cm37Cardiac mass QTL 376.28e-07heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)1196248093241248093Rat
61376Bp42Blood pressure QTL 4223.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1197814409242814409Rat
634313Niddm43Non-insulin dependent diabetes mellitus QTL 43blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1199050459259647894Rat
1549910Bw54Body weight QTL 540.05body mass (VT:0001259)body weight (CMO:0000012)1214647894259647894Rat
70211Niddm24Non-insulin dependent diabetes mellitus QTL 243.79blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1214647894259647894Rat
1357399Bw45Body weight QTL 453.05body mass (VT:0001259)body mass index (BMI) (CMO:0000105)1206329708251329708Rat
1357404Bw42Body weight QTL 424.490.0001body mass (VT:0001259)body weight (CMO:0000012)1206329708251329708Rat
10053715Scort24Serum corticosterone level QTL 242.130.0088blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1221414816260522016Rat
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118608292241799120Rat
1358916Kidm22Kidney mass QTL 223.32kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1210702053240947965Rat
2312564Glom18Glomerulus QTL 182.40.003kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)1185356336231689108Rat
634321Hc1Hypercalciuria QTL 12.91urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1178810256240830002Rat
2292218Kidm35Kidney mass QTL 35kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1199368955224569684Rat
61400Niddm1Non-insulin dependent diabetes mellitus QTL 111blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1218753689245907899Rat
1331790Bp201Blood pressure QTL 2013.127arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1198211513225126682Rat
10059587Bw173Body weight QTL 1733.230.025body mass (VT:0001259)body weight (CMO:0000012)1202069611247069611Rat
2292216Bw80Body weight QTL 803.230.0019body mass (VT:0001259)body weight (CMO:0000012)1213533809243914901Rat
61403Niddm4Non-insulin dependent diabetes mellitus QTL 4blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1206329708222745518Rat
1300168Bp170Blood pressure QTL 1702.76arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1207702246228581766Rat
2292220Bp306Blood pressure QTL 3063.470.00087arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393243914901Rat
10059590Kidm44Kidney mass QTL 443.420.025kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1191033875236033875Rat
1641926Teswt2Testicular weight QTL 22.82testis mass (VT:1000644)both testes wet weight (CMO:0000175)1197697768238755659Rat
631658Cm7Cardiac mass QTL 75.320.0001aorta mass (VT:0002845)aorta weight (CMO:0000076)1196248093241248093Rat
1354610Bw34Body weight QTL 344.1body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1582206Kidm33Kidney mass QTL 336.9kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1188377360224054420Rat
8655855Arrd3Age-related retinal degeneration QTL 33.07lens clarity trait (VT:0001304)cataract incidence/prevalence measurement (CMO:0001585)1183970203243914901Rat
634340Hcar5Hepatocarcinoma resistance QTL 58liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1214537555226660468Rat
1600374Mcs17Mammary carcinoma susceptibility QTL 173mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1197670404242670404Rat
1600363Hc6Hypercalciuria QTL 62.7urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1203995416244113296Rat
2293083Iddm25Insulin dependent diabetes mellitus QTL 254.18blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1181829673224569684Rat
738032Hcas5Hepatocarcinoma susceptibility QTL 53.12liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1176426412257976495Rat
1358191Ept10Estrogen-induced pituitary tumorigenesis QTL 103.8pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)1192825253243914732Rat
2302040Pia35Pristane induced arthritis QTL 353.80.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G1 level (CMO:0002115)1216255568260522016Rat
7394701Uae46Urinary albumin excretion QTL 463.60.0056urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1201554356246554356Rat
1598821Rf55Renal function QTL 556.3renal blood flow trait (VT:2000006)ratio of change in renal blood flow to change in renal perfusion pressure (CMO:0001239)1218748008257976495Rat

Markers in Region
BQ195306  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21221,874,346 - 221,874,548 (+)MAPPERmRatBN7.2
Rnor_6.01242,124,315 - 242,124,559NCBIRnor6.0
Rnor_5.01249,400,775 - 249,401,019UniSTSRnor5.0
RGSC_v3.41227,647,431 - 227,647,632UniSTSRGSC3.4
Celera1219,085,850 - 219,086,048UniSTS
RH 3.4 Map11613.6UniSTS
Cytogenetic Map1q51UniSTS


Genetic Models
This gene Fxn is modified in the following models/strains:
LE-Fxn em1Fara-/+     LE-Fxn em2Fara-/+/Rrrc     LE-Fxn em2Fara-/+     LE-Fxn em1Fara-/+/Rrrc    


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 43 57 41 19 41 8 11 74 35 40 11 8
Low 1
Below cutoff

Sequence


Ensembl Acc Id: ENSRNOT00000020412   ⟹   ENSRNOP00000020412
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1242,124,125 - 242,152,834 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000071614   ⟹   ENSRNOP00000066555
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1221,872,420 - 221,897,540 (-)Ensembl
Rnor_6.0 Ensembl1242,123,975 - 242,152,834 (-)Ensembl
RefSeq Acc Id: NM_001395132   ⟹   NP_001382061
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81231,300,457 - 231,323,989 (-)NCBI
mRatBN7.21221,874,007 - 221,897,543 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001382061 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein D3ZYW7 (Get FASTA)   NCBI Sequence Viewer  
  EDM13034 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000066555.3
Ensembl Acc Id: ENSRNOP00000020412   ⟸   ENSRNOT00000020412
Ensembl Acc Id: ENSRNOP00000066555   ⟸   ENSRNOT00000071614
RefSeq Acc Id: NP_001382061   ⟸   NM_001395132
- UniProtKB: D3ZYW7 (UniProtKB/Swiss-Prot),   M0RAK4 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZYW7-F1-model_v2 AlphaFold D3ZYW7 1-208 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13690835
Promoter ID:EPDNEW_R1349
Type:initiation region
Name:Fxn_1
Description:frataxin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01242,152,840 - 242,152,900EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1565754 AgrOrtholog
BioCyc Gene G2FUF-56095 BioCyc
BioCyc Pathway PWY-7250 [[2Fe-2S] iron-sulfur cluster biosynthesis] BioCyc
BioCyc Pathway Image PWY-7250 BioCyc
Ensembl Genes ENSRNOG00000015213 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000071614.3 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/TrEMBL
NCBI Gene 499335 ENTREZGENE
PANTHER FRATAXIN, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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/TrEMBL
  FRATAXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000015213 RatGTEx
SMART Frataxin_Cyay UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55387 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3ZYW7 ENTREZGENE, UniProtKB/Swiss-Prot
  M0RAK4 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-04-30 Fxn  frataxin   Fxn_predicted  frataxin (predicted)  'predicted' is removed 2292626 APPROVED
2006-11-15 Fxn_predicted  frataxin (predicted)  RGD1565754_predicted  similar to frataxin (predicted)  Symbol and Name updated to reflect Human and Mouse nomenclature 1299863 APPROVED
2006-03-07 RGD1565754_predicted  similar to frataxin (predicted)  LOC499335  similar to frataxin  Symbol and Name status set to approved 1299863 APPROVED
2006-02-09 LOC499335  similar to frataxin      Symbol and Name status set to provisional 70820 PROVISIONAL