Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

FXN (frataxin)

Identity

Other namesCyaY
FA
FARR
FRDA
X25
HGNC (Hugo) FXN
LocusID (NCBI) 2395
Location 9q21.11
Location_base_pair Starts at 71650479 and ends at 71693993 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)FXN   3951
Cards
Entrez_Gene (NCBI)FXN  2395  frataxin
GeneCards (Weizmann)FXN
Ensembl (Hinxton)ENSG00000165060 [Gene_View]  chr9:71650479-71693993 [Contig_View]  FXN [Vega]
ICGC DataPortalENSG00000165060
cBioPortalFXN
AceView (NCBI)FXN
Genatlas (Paris)FXN
WikiGenes2395
SOURCE (Princeton)NM_000144 NM_001161706 NM_181425
Genomic and cartography
GoldenPath (UCSC)FXN  -  9q21.11   chr9:71650479-71693993 +  9q21.11   [Description]    (hg19-Feb_2009)
EnsemblFXN - 9q21.11 [CytoView]
Mapping of homologs : NCBIFXN [Mapview]
OMIM229300   606829   
Gene and transcription
Genbank (Entrez)AA232366 AI951739 AK308620 BC023633 BC048097
RefSeq transcript (Entrez)NM_000144 NM_001161706 NM_181425
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_008845 NT_008470 NW_001839221 NW_004929366
Consensus coding sequences : CCDS (NCBI)FXN
Cluster EST : UnigeneHs.20685 [ NCBI ]
CGAP (NCI)Hs.20685
Alternative Splicing : Fast-db (Paris)GSHG0030175
Alternative Splicing GalleryENSG00000165060
Gene ExpressionFXN [ NCBI-GEO ]     FXN [ SEEK ]   FXN [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16595 (Uniprot)
NextProtQ16595  [Medical]
With graphics : InterProQ16595
Splice isoforms : SwissVarQ16595 (Swissvar)
Catalytic activity : Enzyme1.16.3.1 [ Enzyme-Expasy ]   1.16.3.11.16.3.1 [ IntEnz-EBI ]   1.16.3.1 [ BRENDA ]   1.16.3.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)FRATAXIN_1 (PS01344)    FRATAXIN_2 (PS50810)   
Domains : Interpro (EBI)Frataxin [organisation]   Frataxin/CyaY [organisation]   Frataxin_CS [organisation]  
Related proteins : CluSTrQ16595
Domain families : Pfam (Sanger)Frataxin_Cyay (PF01491)   
Domain families : Pfam (NCBI)pfam01491   
DMDM Disease mutations2395
Blocks (Seattle)Q16595
PDB (SRS)1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
PDB (PDBSum)1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
PDB (IMB)1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
PDB (RSDB)1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
Human Protein AtlasENSG00000165060 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ16595
HPRD06013
IPIIPI00293425   IPI00217745   IPI00816240   IPI00946824   IPI00873180   IPI00946661   
Protein Interaction databases
DIP (DOE-UCLA)Q16595
IntAct (EBI)Q16595
FunCoupENSG00000165060
BioGRIDFXN
InParanoidQ16595
Interologous Interaction database Q16595
IntegromeDBFXN
STRING (EMBL)FXN
Ontologies - Pathways
Ontology : AmiGOferroxidase activity  protein binding  mitochondrion  mitochondrial matrix  mitochondrial matrix  mitochondrial matrix  cytosol  oxidative phosphorylation  heme biosynthetic process  ion transport  cellular iron ion homeostasis  mitochondrion organization  adult walking behavior  ferrous iron binding  ferric iron binding  positive regulation of cell proliferation  aerobic respiration  embryo development ending in birth or egg hatching  response to iron ion  regulation of ferrochelatase activity  protein autoprocessing  iron incorporation into metallo-sulfur cluster  proprioception  positive regulation of cell growth  iron chaperone activity  negative regulation of multicellular organism growth  negative regulation of apoptotic process  small molecule metabolic process  negative regulation of organ growth  positive regulation of metalloenzyme activity  positive regulation of transferase activity  positive regulation of lyase activity  positive regulation of lyase activity  positive regulation of oxidoreductase activity  iron-sulfur cluster binding  2 iron, 2 sulfur cluster binding  cellular response to hydrogen peroxide  negative regulation of release of cytochrome c from mitochondria  
Ontology : EGO-EBIferroxidase activity  protein binding  mitochondrion  mitochondrial matrix  mitochondrial matrix  mitochondrial matrix  cytosol  oxidative phosphorylation  heme biosynthetic process  ion transport  cellular iron ion homeostasis  mitochondrion organization  adult walking behavior  ferrous iron binding  ferric iron binding  positive regulation of cell proliferation  aerobic respiration  embryo development ending in birth or egg hatching  response to iron ion  regulation of ferrochelatase activity  protein autoprocessing  iron incorporation into metallo-sulfur cluster  proprioception  positive regulation of cell growth  iron chaperone activity  negative regulation of multicellular organism growth  negative regulation of apoptotic process  small molecule metabolic process  negative regulation of organ growth  positive regulation of metalloenzyme activity  positive regulation of transferase activity  positive regulation of lyase activity  positive regulation of lyase activity  positive regulation of oxidoreductase activity  iron-sulfur cluster binding  2 iron, 2 sulfur cluster binding  cellular response to hydrogen peroxide  negative regulation of release of cytochrome c from mitochondria  
Protein Interaction DatabaseFXN
Wikipedia pathwaysFXN
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FXN
snp3D : Map Gene to Disease2395
SNP (GeneSNP Utah)FXN
SNP : HGBaseFXN
Genetic variants : HAPMAPFXN
Exome VariantFXN
1000_GenomesFXN 
ICGC programENSG00000165060 
Somatic Mutations in Cancer : COSMICFXN 
CONAN: Copy Number AnalysisFXN 
Mutations and Diseases : HGMDFXN
Mutations and Diseases : intOGenFXN
Genomic VariantsFXN  FXN [DGVbeta]
dbVarFXN
ClinVarFXN
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM229300    606829   
MedgenFXN
GENETestsFXN
Disease Genetic AssociationFXN
Huge Navigator FXN [HugePedia]  FXN [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneFXN
Homology/Alignments : Family Browser (UCSC)FXN
Phylogenetic Trees/Animal Genes : TreeFamFXN
Chemical/Protein Interactions : CTD2395
Chemical/Pharm GKB GenePA28369
Clinical trialFXN
Cancer Resource (Charite)ENSG00000165060
Other databases
Probes
Litterature
PubMed137 Pubmed reference(s) in Entrez
CoreMineFXN
iHOPFXN
OncoSearchFXN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:47:29 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.