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FXN (frataxin)

Identity

Other namesCyaY
FA
FARR
FRDA
X25
HGNC (Hugo) FXN
LocusID (NCBI) 2395
Atlas_Id 46262
Location 9q21.11  [Link to chromosome band 9q21]
Location_base_pair Starts at 71650479 and ends at 71693993 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FXN (9q21.11) / FXN (9q21.11)SNX22 (15q22.31) / FXN (9q21.11)TJP2 (9q21.11) / FXN (9q21.11)
TJP2 9q21.11 / FXN 9q21.11

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
AliasesCyaY; FA; FARR; FRDA; 
X25
GeneCards (Weizmann)FXN
Ensembl hg19 (Hinxton)ENSG00000165060 [Gene_View]  chr9:71650479-71693993 [Contig_View]  FXN [Vega]
Ensembl hg38 (Hinxton)ENSG00000165060 [Gene_View]  chr9:71650479-71693993 [Contig_View]  FXN [Vega]
ICGC DataPortalENSG00000165060
TCGA cBioPortalFXN
AceView (NCBI)FXN
Genatlas (Paris)FXN
WikiGenes2395
SOURCE (Princeton)FXN
Genomic and cartography
GoldenPath hg19 (UCSC)FXN  -     chr9:71650479-71693993 +  9q21.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FXN  -     9q21.11   [Description]    (hg38-Dec_2013)
EnsemblFXN - 9q21.11 [CytoView hg19]  FXN - 9q21.11 [CytoView hg38]
Mapping of homologs : NCBIFXN [Mapview hg19]  FXN [Mapview hg38]
OMIM229300   606829   
Gene and transcription
Genbank (Entrez)AA232366 AI951739 AK308620 BC023633 BC048097
RefSeq transcript (Entrez)NM_000144 NM_001161706 NM_181425
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_008845 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)FXN
Cluster EST : UnigeneHs.20685 [ NCBI ]
CGAP (NCI)Hs.20685
Alternative Splicing GalleryENSG00000165060
Gene ExpressionFXN [ NCBI-GEO ]   FXN [ EBI - ARRAY_EXPRESS ]   FXN [ SEEK ]   FXN [ MEM ]
Gene Expression Viewer (FireBrowse)FXN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2395
GTEX Portal (Tissue expression)FXN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16595 (Uniprot)
NextProtQ16595  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ16595
Domaine pattern : Prosite (Expaxy)FRATAXIN_1 (PS01344)    FRATAXIN_2 (PS50810)   
Domains : Interpro (EBI)Frataxin    Frataxin/CyaY    Frataxin_CS   
Domain families : Pfam (Sanger)Frataxin_Cyay (PF01491)   
Domain families : Pfam (NCBI)pfam01491   
DMDM Disease mutations2395
Blocks (Seattle)FXN
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   
Structural Biology KnowledgeBase1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
SCOP (Structural Classification of Proteins)1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
CATH (Classification of proteins structures)1EKG    1LY7    3S4M    3S5D    3S5E    3S5F    3T3J    3T3K    3T3L    3T3T    3T3X   
SuperfamilyQ16595
Human Protein AtlasENSG00000165060
Peptide AtlasQ16595
HPRD06013
IPIIPI00293425   IPI00217745   IPI00816240   IPI00946824   IPI00873180   IPI00946661   
Protein Interaction databases
DIP (DOE-UCLA)Q16595
IntAct (EBI)Q16595
FunCoupENSG00000165060
BioGRIDFXN
STRING (EMBL)FXN
ZODIACFXN
Ontologies - Pathways
QuickGOQ16595
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 lyase activity  positive regulation of lyase 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  positive regulation of succinate dehydrogenase activity  positive regulation of aconitate hydratase activity  
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 lyase activity  positive regulation of lyase 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  positive regulation of succinate dehydrogenase activity  positive regulation of aconitate hydratase activity  
NDEx NetworkFXN
Atlas of Cancer Signalling NetworkFXN
Wikipedia pathwaysFXN
Orthology - Evolution
OrthoDB2395
GeneTree (enSembl)ENSG00000165060
Phylogenetic Trees/Animal Genes : TreeFamFXN
Homologs : HomoloGeneFXN
Homology/Alignments : Family Browser (UCSC)FXN
Gene fusions - Rearrangements
Fusion: TCGATJP2 9q21.11 FXN 9q21.11 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerFXN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FXN
dbVarFXN
ClinVarFXN
1000_GenomesFXN 
Exome Variant ServerFXN
ExAC (Exome Aggregation Consortium)FXN (select the gene name)
Genetic variants : HAPMAP2395
Genomic Variants (DGV)FXN [DGVbeta]
Mutations
ICGC Data PortalFXN 
TCGA Data PortalFXN 
Broad Tumor PortalFXN
OASIS PortalFXN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFXN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch FXN
DgiDB (Drug Gene Interaction Database)FXN
DoCM (Curated mutations)FXN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FXN (select a term)
intoGenFXN
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:71650479-71693993  ENSG00000165060
CONAN: Copy Number AnalysisFXN 
Mutations and Diseases : HGMDFXN
OMIM229300    606829   
MedgenFXN
Genetic Testing Registry FXN
NextProtQ16595 [Medical]
TSGene2395
GENETestsFXN
Huge Navigator FXN [HugePedia]
snp3D : Map Gene to Disease2395
BioCentury BCIQFXN
ClinGenFXN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2395
Chemical/Pharm GKB GenePA28369
Clinical trialFXN
Miscellaneous
canSAR (ICR)FXN (select the gene name)
Probes
Litterature
PubMed158 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFXN
EVEXFXN
GoPubMedFXN
iHOPFXN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:50:05 CEST 2016

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