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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FXN Gene

protein-coding GIFtS: 66
GCID: GC09P071650

frataxin

(Previous name: Friedreich ataxia )
(Previous symbol: FRDA)

Explore 37 diseases affiliated with
FXN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Frataxin¹		Friedreich Ataxia Protein² ³
FRDA¹ ² ³ ⁵		Friedreich Ataxia¹
X25¹ ² ³ ⁵		Frataxin, Mitochondrial²
FARR¹ ² ⁵		EC 1.16.3.1³
CyaY¹ ²		Fxn³
FA¹ ²

External Ids:	HGNC: 3951¹	Entrez Gene: 2395²	Ensembl: ENSG00000165060⁷	OMIM: 606829⁵	UniProtKB: Q16595³

Export aliases for FXN gene to outside databases

Previous GC identifers: GC09P068879 GC09P070840 GC09P041495

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FXN:

This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating

mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich

ataxia. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jun 2009)

UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595

Function: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to

proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through

its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro

ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by

oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only

been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1

Gene Wiki entry for FXN (Frataxin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FXN gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FXN promoter sequence

Search SABiosciences Chromatin IP Primers for FXN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FXN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.11 Ensembl cytogenetic band: 9q21.11 HGNC cytogenetic band: 9q21.11

FXN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FXN gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P071650: view genomic region (about GC identifiers)

Start:	71,650,175 bp from pter	End:	71,715,094 bp from pter
Size:	64,920 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595 (See protein sequence)

Recommended Name: Frataxin, mitochondrial precursor

Size: 210 amino acids; 23135 Da

Subunit: Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated

from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular wight

aggregates that incoroprate iron. Interacts with LYRM4 AND HSPA9. Interacts with ACO1. Interacts with ISCU isoform 1

and isoform 2. Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer. Interacts with

SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate (By similarity)

Subcellular location: Cytoplasm. Mitochondrion. Note=PubMed:18725397 reports localization exclusively in mitochondria

Miscellaneous: The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most likely

contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast frataxin

homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not induced by iron.

The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron storage would be

redundant function, at least in mammalian mitochondria

6/11 PDB 3D structures from and Proteopedia for FXN (see all 11):

1EKG (3D)

1LY7 (3D)

3S4M (3D)

3S5D (3D)

3S5E (3D)

3S5F (3D)

Secondary accessions: O15545 O95656 Q15294 Q5VZ01

Alternative splicing: 2 isoforms: Q16595-1 Q16595-2 (Not highly expressed and may be artifactual)

Explore the universe of human proteins at neXtProt for FXN: NX_Q16595

Post-translational modifications:

Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate

form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the

predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal

maturation process is impaired; their physiological relevance is unsure¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16595

FXN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000135.2 NP_001155178.1 NP_852090.1

ENSEMBL proteins:

ENSP00000366482 ENSP00000379652 ENSP00000418015 ENSP00000419243 ENSP00000379650

Reactome Protein details: Q16595
Human Recombinant Protein Products for FXN:

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	Novus Biologicals FXN Proteins Novus Biologicals FXN Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for FXN
	Uscn Proteins for FXN

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	17468497
GO:0005759	mitochondrial matrix	NAS	17285345
GO:0005829	cytosol	IDA	17468497

FXN for ontologies About GeneDecksing

FXN Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of FXN
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	GenScript Custom Superior Antibodies Services for FXN
	Novus Biologicals FXN Antibodies
	Abcam antibodies for FXN
	Uscn Antibodies for FXN
	ThermoFisher Antibodies for FXN

Assay Products for FXN:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FXN
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FXN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FXN for domains About GeneDecksing

3 InterPro domains/families:

IPR020895 Frataxin_CS

IPR002908 Frataxin/CyaY

IPR017789 Frataxin

Graphical View of Domain Structure for InterPro Entry Q16595

ProtoNet protein and cluster: Q16595

1 Blocks protein family: IPB001794 Frataxin signature

UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595

Similarity: Belongs to the frataxin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FRDA_HUMAN, Q16595

Function: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to

proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through

its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro

ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by

oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only

been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1

Catalytic activity: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O

Enzyme Number (IUBMB): EC 1.16.3.1¹

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004322	ferroxidase activity	IDA	15641778
GO:0005515	protein binding	IPI	15123683
GO:0008198	ferrous iron binding	IDA	15123683
GO:0008199	ferric iron binding	IDA	18537827
GO:0019899	enzyme binding	IEA	--

FXN for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for FXN:

Decreased focal adhesion (FA)

Proliferating cells

10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Fxn):

behavior/neurological	cardiovascular system	cellular	embryogenesis	growth/size
homeostasis/metabolism	mortality/aging	muscle	nervous system	no phenotypic analysis

FXN for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for FXN: Fxn^tm1Mkn Fxn^tm2.1Mkn

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FXN

miRNA Products:		OriGene 3'-UTR Clone (see all 3): FXN Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FXN
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate FXN:
		hsa-miR-196a* hsa-miR-26b* hsa-miR-511 hsa-miR-182 hsa-miR-186 hsa-miR-145 hsa-miR-32* hsa-miR-4257

		SwitchGear 3'UTR luciferase reporter plasmid: FXN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FXN (see all 4) OriGene shRNA RFP: FXN OriGene siRNA: FXN
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FXN (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FXN (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): FXN (NM_000144)
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		Sirion Biotech Customized stable knockdown cell line services for FXN Sirion Biotech Customized inducible knockdown cell line services for FXN Sirion Biotech Customized stable overexpressing cell line services for FXN Sirion Biotech Customized inducible overexpressing cell line services for FXN

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXN

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Mitochondrial Iron-Sulfur Cluster Biogenesis

Mitochondrial Iron-Sulfur Cluster Biogenesis

1.00

FXN:NFS1:ISD11:ISCU Synthesizes Iron-Sulfur Cluster

0.67

Mitochondrial Protein Import

Mitochondrial Protein Import

1.00

HIF-2-alpha transcription factor network

HIF-2-alpha transcription factor network

1.00

Metabolism

Metabolism

1.00

Asparagine N-linked glycosylation

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for FXN

HIF-2-alpha transcription factor network

5 Reactome Pathways for FXN

	Mitochondrial Iron-Sulfur Cluster Biogenesis
	Metabolism
	Mitochondrial Protein Import
	Metabolism of proteins
	FXN:NFS1:ISD11:ISCU Synthesizes Iron-Sulfur Cluster

FXN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FXN

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/24 Interacting proteins for FXN (Q16595^{2, 3} ENSP00000366482⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PASK	Q96RG2²^,³, ENSP00000234040⁴	MINT-8145353 I2D: score=1 STRING: ENSP00000234040
ACTN1	P12814²^,³, ENSP00000377941⁴	MINT-2856633 I2D: score=2 STRING: ENSP00000377941
PICK1	Q9NRD5²^,³, ENSP00000349465⁴	MINT-2866674 I2D: score=3 STRING: ENSP00000349465
PMPCB	O75439³, ENSP00000249269⁴	I2D: score=4 STRING: ENSP00000249269
EPAS1	ENSP00000263734⁴	STRING: ENSP00000263734

About this table

Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006119	oxidative phosphorylation	IEA	--
GO:0006783	heme biosynthetic process	NAS	15123683
GO:0006811	ion transport	IEA	--
GO:0006879	cellular iron ion homeostasis	IMP	18160053
GO:0007005	mitochondrion organization	IEA	--

FXN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FXN for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FXN

2 HMDB Compounds for FXN About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Iron	Armco iron (see all 19)	7439-89-6	--

10/20 Novoseek chemical compound relationships for FXN gene (see all 20) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
idebenone	85.5	3	15028670 (3)
iron-sulfur	84.3	51	17098208 (3), 16677095 (2), 17499976 (2), 18425540 (2) (see all 38)
iron	80.5	338	11986241 (10), 12785837 (6), 11823441 (6), 12140189 (5) (see all 99)
ferrihydrite	51.9	6	12755598 (3), 17475338 (1), 15641778 (1)
ferric ammonium citrate	47.8	1	11986241 (1)
deferoxamine	43	1	11986241 (1)
fenton	37.7	2	19853582 (1), 16120311 (1)
succinate	35.6	5	15961414 (2), 15509595 (1), 16293572 (1)
vitamin-e	34.3	3	9302253 (1), 17112370 (1), 8931268 (1)
protoporphyrin ix	21.4	2	11986241 (2)

Search CenterWatch for drugs/clinical trials and news about FXN / FRDA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FXN gene (3 alternative transcripts):

NM_000144.4 NM_001161706.1 NM_181425.2

Unigene Cluster for FXN:

Frataxin

Hs.20685 [show with all ESTs]

Unigene Representative Sequence: NM_181425

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000377270(uc004agz.2 uc004aha.2) ENST00000396366 ENST00000498653

ENST00000484259 ENST00000396364(uc011lrr.1)

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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate FXN:
		hsa-miR-196a* hsa-miR-26b* hsa-miR-511 hsa-miR-182 hsa-miR-186 hsa-miR-145 hsa-miR-32* hsa-miR-4257

		SwitchGear 3'UTR luciferase reporter plasmid: FXN 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FXN

Additional cDNA sequence:

AK308620.1 BC023633.2 BC048097.1 U43747.1

7 DOTS entries:

DT.313618 DT.442811 DT.95201658 DT.121154715 DT.40272550 DT.75178921 DT.95227251

24/62 AceView cDNA sequences (see all 62):

AI199550 BF058880 CB528549 AA703613 NM_181425 BF058323 W01790 AI362785

AA253388 BF056227 AI810693 BC048097 AI086434 NM_000144 AI951739 AA677419

AA253413 W25695 AI014660 BG748146 BG706146 AW014644 CD607656 U43747

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for FXN About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6
SP1:					-										-
SP2:					-
SP3:															-
SP4:															-

ECgene alternative splicing isoforms for FXN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FXN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGGCAGGTG

About this image
See FXN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FXN

SOURCE GeneReport for Unigene cluster: Hs.20685

UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595

Tissue specificity: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts

SABiosciences Custom PCR Arrays for FXN

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for FXN gene from 8/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fxn^{1 , 5}	frataxin^{1, 5}	74.8(n)¹ 74.15(a)¹		19 (19.39 cM)⁵ 14297¹ NM_008044.2¹ NP_032070.1¹ 24261453⁵
chicken (Gallus gallus)	Aves	FXN¹	frataxin	62.05(n) 65.13(a)		427244 XM_424827.3 XP_424827.3
lizard (Anolis carolinensis)	Reptilia	FXN⁶	--	69(a)	1 ↔ 1	2(49715216-49724074)
zebrafish (Danio rerio)	Actinopterygii	fxn¹	frataxin	62.82(n) 65.38(a)		556389 NM_001083016.1 NP_001076485.1
fruit fly (Drosophila melanogaster)	Insecta	fh⁶	frataxin homolog	36(a)	1 ↔ 1	X(9042113-9043104)
worm (Caenorhabditis elegans)	Secernentea	frh-1⁶	Frataxin, mitochondrial	42(a)	1 ↔ 1	II(5917397-5918296)
thale cress (Arabidopsis thaliana)	eudicotyledons	FH¹	frataxin	44.51(n) 37.65(a)		828013 NM_116562.3 NP_192233.2
rice (Oryza sativa)	Liliopsida	Os01g0783600¹	hypothetical protein	53.09(n) 49.38(a)		4327058 NM_001050990.2 NP_001044455.2

ENSEMBL Gene Tree for FXN (if available)
TreeFam Gene Tree for FXN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FXN gene

1 SIMAP similar gene for FXN using alignment to 4 protein entries: FRDA_HUMAN (see all proteins):

x25

FXN for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for FXN
PGOHUM00000247868 PGOHUM00000237971 PGOHUM00000235753 PGOHUM00000236331

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894107^1,2	C	pathogenic	71679858(+)	`GAGTGG/TTGTCT`	6	G V	mis¹		1		NA	4548
rs104894106^1,2	C	pathogenic	71679929(+)	`AGCAAA/TTCTGG`	6	I F	mis¹		0	--	--	--	--
rs143340609^1,2	C	pathogenic	71679936(+)	`CTGGCC/TATCTT`	6	P L	mis¹		0	--	--	--	--
rs56214919^1,2	C	probable-pathogenic	71687562(+)	`AAAACG/TGGGTG`	5	G W T	mis¹ syn¹ int¹		0	--	--	--	--
rs75991648^1,2	C,F	--	71648607(+)	`GGAAGG/TGCCTC`	3	--	us2k¹		1		WA	118
rs72724243^1,2	C	--	71648748(+)	`TTTGTT/CGCACA`	3	--	us2k¹		2		NA	122
rs79695280^1,2		--	71648757(+)	`CAGGTG/TGGGGG`	3	--	us2k¹		0	--	--	--	--
rs148485714^1,2		--	71649087(+)	`CCCCCA/GTCCCT`	3	--	us2k¹		0	--	--	--	--
rs190338865^1,2		--	71649251(+)	`CCATGG/TAAAGT`	3	--	us2k¹		0	--	--	--	--
rs181275925^1,2		--	71649256(+)	`GAAAGC/TGTACA`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FXN (71650175 - 71715094 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for FXN
2 CNVs: 5262 100650
6 Indels: 62908 47725 47724 41174 29175 42063
Human Gene Mutation Database (HGMD): FXN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FXN

DNA2.0 Custom Variant and Variant Library Synthesis for FXN

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FXN for disorders           About GeneDecksing

OMIM gene information: 606829
OMIM disorders: 229300
UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595

Defects in FXN are the cause of Friedreich ataxia (FRDA) [MIM:229300]. FRDA is an autosomal recessive,

progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited

ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb

movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and

vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions

in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region

20/37 diseases for FXN (see all 37): About MalaCards

friedreich ataxia ataxia friedreich ataxia with retained reflexes x-linked sideroblastic anemia

x-linked sideroblastic anemia with ataxia iron overload spinocerebellar ataxia hypertrophic cardiomyopathy

familial hypertrophic cardiomyopathy sideroblastic anemia hemochromatosis autosomal recessive disease

apraxia neurodegenerative disease diabetes mellitus cerebellar ataxia

protein s deficiency chorea cardiomyopathy hereditary ataxia

4 diseases from the University of Copenhagen DISEASES database for FXN:

Friedreich ataxia X-linked sideroblastic anemia with ataxia Hypertrophic cardiomyopathy Cerebellar ataxia

10/30 Novoseek disease relationships for FXN gene (see all 30) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
friedreich ataxia	99	272	12516053 (3), 18463734 (3), 9302253 (2), 10732799 (2) (see all 99)
ataxias hereditary	87.8	6	16344344 (1), 12393810 (1), 12938016 (1), 17478498 (1) (see all 5)
frda1	86.8	4	15376485 (3), 10102712 (1)
neurodegenerative diseases	75.8	47	11428460 (1), 12140189 (1), 16911956 (1), 19104905 (1) (see all 37)
spinocerebellar ataxias	73.7	1	9339708 (1)
neurodegenerative diseases hereditary	73.6	2	10428860 (1), 14977802 (1)
anemia sideroblastic	68.5	2	12938016 (1), 20393584 (1)
vitamin e deficiency	66.6	3	9302253 (1), 17112370 (1), 8931268 (1)
cardiomyopathy	65.4	11	9180083 (1), 9922348 (1), 16608849 (1), 11121484 (1) (see all 11)
iron overload	61.8	11	15282205 (2), 11351132 (1), 18424449 (1), 15506716 (1) (see all 7)

GeneTests: FXN

Friedreich Ataxia

Genetic Association Database (GAD): FXN
Human Genome Epidemiology (HuGE) Navigator: FXN (14 documents)

Export disorders for FXN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FXN gene, integrated from 9 sources (see all 328):
(articles sorted by number of sources associating them with FXN)

Utopia: connect your pdf to the dynamic
world of online information

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. (PubMed id 8596916)^{1, 2, 3} Campuzano V.... Pandolfo M. (1996)
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. (PubMed id 11823441)^{1, 2, 9} Cavadini P....Isaya G. (2002)
The in vivo mitochondrial two-step maturation of human frataxin. (PubMed id 18725397)^{1, 2, 9} Schmucker S....Puccio H. (2008)
Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region. (PubMed id 15581888)^{1, 2, 9} O'Neill H.A....Isaya G. (2005)
Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. (PubMed id 12785837)^{1, 2, 9} Yoon T. and Cowan J.A. (2003)
Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. (PubMed id 10428860)^{1, 2, 9} Branda S.S.... Isaya G. (1999)
In vivo maturation of human frataxin. (PubMed id 17468497)^{1, 2, 9} Condo I.... Testi R. (2007)
Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PubMed id 20053667)^{1, 2, 9} Condo I.... Testi R. (2010)
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. (PubMed id 17331979)^{1, 2, 9} Shan Y....Cortopassi G. (2007)
A pool of extramitochondrial frataxin that promotes cell survival. (PubMed id 16608849)^{1, 2, 9} Condo I.... Testi R. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2395	HGNC: 3951	AceView: FXN	Ensembl:ENSG00000165060	euGenes: HUgn2395
ECgene: FXN	H-InvDB: FXN

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FXN	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FXN

Intellectual Property for FXN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FXN gene:
Search GeneIP for patents involving FXN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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frataxin

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