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This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] See more...
Aliases for FXN Gene
Aliases for FXN Gene
External Ids for FXN Gene
- HGNC: 3951
- NCBI Entrez Gene: 2395
- Ensembl: ENSG00000165060
- OMIM®: 606829
- UniProtKB/Swiss-Prot: Q16595
Previous HGNC Symbols for FXN Gene
- FRDA
Previous GeneCards Identifiers for FXN Gene
- GC09P068879
- GC09P070840
- GC09P071650
- GC09P041495
Summaries for FXN Gene
-
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
GeneCards Summary for FXN Gene
FXN (Frataxin) is a Protein Coding gene. Diseases associated with FXN include Friedreich Ataxia and Hereditary Ataxia. Among its related pathways are Mitochondrial protein import and Mitochondrial iron-sulfur cluster biogenesis. Gene Ontology (GO) annotations related to this gene include iron-sulfur cluster binding and ferrous iron binding.
UniProtKB/Swiss-Prot Summary for FXN Gene
-
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.
Additional gene information for FXN Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXN Gene
Genomics for FXN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FXN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FXN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXN
- Top Transcription factor binding sites by QIAGEN in the FXN gene promoter:
-
- AP-1
- ATF-2
- c-Jun
Genomic Locations for FXN Gene
Latest Assembly
- chr9:69,035,751-69,079,076
- (GRCh38/hg38)
- Size:
- 43,326 bases
- Orientation:
- Plus strand
Previous Assembly
- chr9:71,650,668-71,693,992
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 43,325 bases
- Orientation:
- Plus strand
Genomic View for FXN Gene
Genes around FXN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q21.11 by HGNC
- 9q21.11 by Entrez Gene
- 9q21.11 by Ensembl
FXN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FXN Gene
Proteins for FXN Gene
-
Protein details for FXN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16595-FRDA_HUMAN
- Recommended name:
- Frataxin, mitochondrial
- Protein Accession:
- Q16595
- A8MXJ6
- C9JJ89
- O15545
- O95656
- Q15294
- Q5VZ01
Protein attributes for FXN Gene
- Size:
- 210 amino acids
- Molecular mass:
- 23135 Da
- Quaternary structure:
-
- 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 weight aggregates that incorporate iron (PubMed:11823441, PubMed:12755598, PubMed:15641778, PubMed:15581888). Interacts with LYRM4 (PubMed:17331979). Interacts with ACO1 (PubMed:20053667). Interacts with ISCU isoform 1 and isoform 2 (PubMed:12785837, PubMed:16091420). Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer (PubMed:15123683). Interacts with SDHA and SDHB (PubMed:15961414). Interacts with ACO2; the interaction is dependent on citrate (By similarity). Interacts with HSPA9 (PubMed:17331979, PubMed:26702583).
- 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.
- [Isoform 2]: Not highly expressed and may be artifactual.
Three dimensional structures from OCA and Proteopedia for FXN Gene
Protein Expression for FXN Gene
Post-translational modifications for FXN Gene
- 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 unsure.
-
Ubiquitination at Lys197
- NX_Q16595 (NX_Q16595-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FXN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences FXN / Frataxin Antibody
- G Biosciences Immunotag™ FXN Antibody
- GeneTex Anti-Frataxin antibody, Internal
-
Custom Antibody ServicesOriGene Antibodies for FXN
- 73-207
- AM21056PU-N
- AP13488PU-N
- CF504254
- CF504256
- CF504334
- CF504335
- CF504336
- CF504341
- CF504352
- CF504354
- TA302102
- TA321071
- TA327162
- TA504254
- TA504254S
- TA504256
- TA504256S
- TA504334
- TA504334S
- TA504335
- TA504335S
- TA504336
- TA504336S
- TA504341
- TA504341S
- TA504352
- TA504352S
- TA504354
- TA504354S
- TA600432
- TA600433
- TA600434
- Novus Biologicals Antibodies for FXN
-
Abcam antibodies for FXN
- Invitrogen Antibodies for FXN (AFLGC-FXN)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FXN
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for FXN
- Origene Custom Protein Services for FXN
- ProSpec Recombinant Proteins for FXN
-
Abcam proteins for FXN
Assay products for research
-
Abcam assays for FXN
No data available for DME Specific Peptides for FXN Gene
Domains & Families for FXN Gene
Gene Families for FXN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for FXN Gene
- InterPro:
- Blocks:
-
- Frataxin signature
Suggested Antigen Peptide Sequences for FXN Gene
- GenScript: Design optimal peptide antigens:
-
- Friedreich ataxia protein (FRDA_HUMAN)
- Frataxin (O96034_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q16595- Family:
-
- Belongs to the frataxin family.
Function for FXN Gene
Molecular function for FXN Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O; Xref=Rhea:RHEA:11148, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=1.16.3.1; Evidence={ECO:0000269|PubMed:15641778};.
Enzyme Numbers (IUBMB) for FXN Gene
Phenotypes From GWAS Catalog for FXN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004322 | ferroxidase activity | IEA,IDA | 15641778 |
| GO:0005515 | protein binding | IPI | 15123683 |
| GO:0008198 | ferrous iron binding | IDA | 12785837 |
| GO:0008199 | ferric iron binding | IEA,IDA | 12785837 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for FXN Gene
- MGI mutant phenotypes for FXN:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for FXN:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- no effect
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Proliferating cells
- Decreased viability in pancreas lineage
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, increased peripheral FA formation
- Decreased viability
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FXN - Starting at $85 >
- * FXN CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FXN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXN
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXN
miRNA for FXN Gene
- miRTarBase miRNAs that target FXN
-
- hsa-miR-559 (MIRT007228)
- hsa-miR-589-5p (MIRT007229)
- hsa-miR-1270 (MIRT007230)
- hsa-miR-620 (MIRT007231)
- hsa-miR-522-3p (MIRT007232)
- hsa-miR-299-3p (MIRT007233)
- hsa-miR-506-3p (MIRT007234)
- hsa-miR-124-3p (MIRT007235)
- hsa-miR-624-3p (MIRT007236)
- hsa-miR-935 (MIRT036668)
- hsa-miR-100-5p (MIRT048445)
- hsa-miR-369-3p (MIRT107873)
- hsa-miR-374a-5p (MIRT107874)
- hsa-miR-545-5p (MIRT107875)
- hsa-miR-548c-3p (MIRT107876)
- hsa-miR-374b-5p (MIRT107877)
- hsa-miR-1252-3p (MIRT107878)
- hsa-miR-3662 (MIRT107879)
- hsa-miR-4536-5p (MIRT107881)
- hsa-miR-202-3p (MIRT454273)
- hsa-miR-98-5p (MIRT454274)
- hsa-miR-4500 (MIRT454275)
- hsa-miR-4458 (MIRT454276)
- hsa-let-7i-5p (MIRT454277)
- hsa-let-7g-5p (MIRT454278)
- hsa-let-7f-5p (MIRT454279)
- hsa-let-7e-5p (MIRT454280)
- hsa-let-7d-5p (MIRT454281)
- hsa-let-7c-5p (MIRT454282)
- hsa-let-7b-5p (MIRT454283)
- hsa-let-7a-5p (MIRT454284)
- hsa-miR-5692c (MIRT454285)
- hsa-miR-5692b (MIRT454286)
- hsa-miR-8066 (MIRT454287)
- hsa-miR-6082 (MIRT454288)
- hsa-miR-2681-5p (MIRT563214)
- hsa-miR-411-5p (MIRT563215)
- hsa-miR-6866-5p (MIRT563216)
- hsa-miR-6787-5p (MIRT563217)
- hsa-miR-193b-5p (MIRT563218)
- hsa-miR-663a (MIRT563219)
- hsa-miR-1908-5p (MIRT563220)
- hsa-miR-6087 (MIRT563221)
- hsa-miR-7153-3p (MIRT563222)
- mmu-miR-1896 (MIRT589990)
- mmu-miR-3113-5p (MIRT589991)
- mmu-miR-3064-5p (MIRT589992)
- mmu-miR-3085-3p (MIRT589993)
- mmu-miR-3087-3p (MIRT589994)
- mmu-miR-3470b (MIRT589995)
- hsa-miR-4284 (MIRT635198)
- hsa-miR-4772-3p (MIRT635199)
- hsa-miR-4638-5p (MIRT635200)
- hsa-miR-1307-3p (MIRT635201)
- hsa-miR-1304-3p (MIRT635202)
- hsa-miR-6741-3p (MIRT635203)
- hsa-miR-4726-3p (MIRT635204)
- hsa-miR-6890-3p (MIRT635205)
- hsa-miR-500b-3p (MIRT644353)
- hsa-miR-7158-3p (MIRT672884)
- hsa-miR-203b-3p (MIRT672885)
- hsa-miR-378a-5p (MIRT672886)
- hsa-miR-6821-3p (MIRT672887)
- hsa-miR-6790-3p (MIRT672888)
- hsa-miR-4635 (MIRT672889)
- hsa-miR-4680-5p (MIRT672890)
- hsa-miR-3653-5p (MIRT672891)
- hsa-miR-3934-5p (MIRT672892)
- hsa-miR-764 (MIRT672893)
- hsa-miR-6878-3p (MIRT678251)
- hsa-miR-640 (MIRT678252)
- hsa-miR-6744-3p (MIRT678253)
- hsa-miR-4757-5p (MIRT678254)
- hsa-miR-6131 (MIRT678255)
- hsa-miR-3663-5p (MIRT678256)
- hsa-miR-212-5p (MIRT678257)
- hsa-miR-1224-3p (MIRT678258)
- hsa-miR-125a-3p (MIRT678259)
- hsa-miR-6813-3p (MIRT678260)
- hsa-miR-519d-5p (MIRT679832)
- hsa-miR-30e-3p (MIRT721541)
- hsa-miR-30d-3p (MIRT721542)
- hsa-miR-30a-3p (MIRT721543)
- hsa-miR-6819-5p (MIRT721544)
- hsa-miR-6812-5p (MIRT721545)
- hsa-miR-6737-5p (MIRT721546)
- hsa-miR-222-5p (MIRT721547)
- hsa-miR-6742-5p (MIRT721548)
- hsa-miR-6747-5p (MIRT721549)
- hsa-miR-608 (MIRT721550)
- hsa-miR-4651 (MIRT721551)
- hsa-miR-4664-5p (MIRT721552)
- hsa-miR-342-5p (MIRT721553)
- hsa-miR-4738-3p (MIRT721554)
- hsa-miR-3129-5p (MIRT721555)
- hsa-miR-199b-3p (MIRT721556)
- hsa-miR-199a-3p (MIRT721557)
- hsa-miR-936 (MIRT721558)
- hsa-miR-145-5p (MIRT734230)
- hsa-miR-1193 (MIRT783115)
- hsa-miR-1827 (MIRT783963)
- hsa-miR-3165 (MIRT784715)
- hsa-miR-3612 (MIRT784944)
- hsa-miR-3665 (MIRT785096)
- hsa-miR-370-5p (MIRT785292)
- hsa-miR-4459 (MIRT785930)
- hsa-miR-4736 (MIRT786577)
- hsa-miR-4740-3p (MIRT786584)
- hsa-miR-619-5p (MIRT788113)
- hsa-miR-6506-5p (MIRT788254)
- hsa-miR-650 (MIRT788271)
- hsa-miR-658 (MIRT788394)
- hsa-miR-6778-3p (MIRT788670)
- hsa-miR-6808-5p (MIRT788867)
- hsa-miR-6893-5p (MIRT789362)
- hsa-miR-8056 (MIRT789760)
- hsa-miR-940 (MIRT789995)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FXN
- Browse OriGene Inhibitory RNA Products For FXN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXN
Clone products for research
- Applied Biological Materials (abm): Clones for FXN - Starting at $45 >
- * FXN as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG224586
- MR224586
- MR224586L3
- MR224586L4
- RC204880
- RC204880L1
- RC204880L2
- RC204880L3
- RC204880L4
- RC219677
- RC219677L3
- RC219677L4
- RC228108
- RC228108L1
- RC228108L2
- RC228108L3
- RC228108L4
- RG204880
- RG219677
- RG228108
- RR216040
- MR224586L3V
- MR224586L4V
- RC204880L1V
- RC204880L2V
- RC204880L3V
- RC204880L4V
- RC219677L3V
- RC219677L4V
- RC228108L1V
- RC228108L2V
- RC228108L3V
- RC228108L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FXN
- Addgene plasmids for FXN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FXN
No data available for Transcription Factor Targets and HOMER Transcription for FXN Gene
Localization for FXN Gene
Subcellular locations from UniProtKB/Swiss-Prot for FXN Gene
- Mitochondrion. Cytoplasm, cytosol. Note=PubMed:18725397 reports localization exclusively in mitochondria. {ECO:0000305 PubMed:18725397}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 17468497 |
| GO:0005759 | mitochondrial matrix | NAS,TAS | -- |
| GO:0005829 | cytosol | IDA | 17468497 |
| GO:1990221 | L-cysteine desulfurase complex | IDA | 29491838 |
Pathways & Interactions for FXN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Porphyrin and chlorophyll metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Metabolism of proteins | ||
| 4 | Mitochondrial iron-sulfur cluster biogenesis | ||
| 5 | Mitochondrial protein import | ||
Pathways by source for FXN Gene
1 BioSystems pathway for FXN Gene
4 Reactome pathways for FXN Gene
1 KEGG pathway for FXN Gene
Interacting Proteins for FXN Gene
Selected Interacting proteins:
Q16595-FRDA_HUMAN
ENSP00000366482
for FXN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FXN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006119 | oxidative phosphorylation | IEA | -- |
| GO:0006783 | heme biosynthetic process | IEA,NAS | 15123683 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006879 | cellular iron ion homeostasis | IEA,IMP | 18160053 |
| GO:0007005 | mitochondrion organization | IEA | -- |
No data available for SIGNOR curated interactions for FXN Gene
Drugs & Compounds for FXN Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
Transcripts for FXN Gene
mRNA/cDNA for FXN Gene
- 3 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000377270 2843 nts (view in UCSC)
- ENST00000396366 922 nts (view in UCSC)
- ENST00000484259 6978 nts (view in UCSC)
- ENST00000498653 856 nts (view in UCSC)
- ENST00000644653 2632 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FXN - Starting at $85 >
- * FXN CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FXN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXN
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXN
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FXN
- Browse OriGene Inhibitory RNA Products For FXN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXN
Clone products for research
- Applied Biological Materials (abm): Clones for FXN - Starting at $45 >
- * FXN as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG224586
- MR224586
- MR224586L3
- MR224586L4
- RC204880
- RC204880L1
- RC204880L2
- RC204880L3
- RC204880L4
- RC219677
- RC219677L3
- RC219677L4
- RC228108
- RC228108L1
- RC228108L2
- RC228108L3
- RC228108L4
- RG204880
- RG219677
- RG228108
- RR216040
- MR224586L3V
- MR224586L4V
- RC204880L1V
- RC204880L2V
- RC204880L3V
- RC204880L4V
- RC219677L3V
- RC219677L4V
- RC228108L1V
- RC228108L2V
- RC228108L3V
- RC228108L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FXN
- Addgene plasmids for FXN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FXN
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | - | ||||||||||||||||
| SP4: | - |
Relevant External Links for FXN Gene
- GeneLoc Exon Structure for
- FXN
Expression for FXN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
This gene is overexpressed in Liver, secretome (18.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FXN Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FXN
SOURCE GeneReport for Unigene cluster for FXN Gene:
Hs.20685mRNA Expression by UniProt/SwissProt for FXN Gene:
Q16595-FRDA_HUMAN
Tissue specificity:
Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
Evidence on tissue expression from TISSUES for FXN Gene
- Nervous system(4.6)
- Eye(4.4)
- Heart(2.8)
- Muscle(2.8)
- Liver(2.5)
- Blood(2.4)
- Pancreas(2.4)
- Skin(2.2)
- Kidney(2.1)
- Thyroid gland(2.1)
- Bone marrow(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FXN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- endocrine
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- head
- neck
Thorax:
- heart
- heart valve
- lung
- rib
- rib cage
Abdomen:
- kidney
- pancreas
Pelvis:
- pelvis
Limb:
- digit
- foot
- lower limb
- toe
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for FXN
-
OriGene qPCR primer pairs and template standards for FXN
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for FXN Gene
Orthologs for FXN Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FXN 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | FXN 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FXN 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Fxn 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fxn 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | FXN 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FXN 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FXN 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497789 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fxn 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | fh 30 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | frh-1 30 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YFH1 30 32 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | FH 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0783600 29 |
|
- Species where no ortholog for FXN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FXN Gene
- ENSEMBL:
- Gene Tree for FXN (if available)
- TreeFam:
- Gene Tree for FXN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FXN: view image
- Alliance of Genome Resources:
- Additional Orthologs for FXN
Paralogs for FXN Gene
(1) SIMAP similar genes for FXN Gene using alignment to 3 proteins:
- FRDA_HUMAN
- C9JAX1_HUMAN
- H7C585_HUMAN
Pseudogenes.org Pseudogenes for FXN Gene
No data available for Paralogs for FXN Gene
Variants for FXN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FXN Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1032212 | Uncertain Significance: Friedreich ataxia 1 | 69,035,928(+) |
C/A NM_000144.5(FXN):c.146C>A (p.Thr49Asn) |
MISSENSE | |
| 1048603 | Uncertain Significance: Charcot-Marie-Tooth-like disease | 69,072,622(+) |
C/T NM_000144.5(FXN):c.493C>T (p.Arg165Cys) |
MISSENSE_VARIANT,SYNONYMOUS | |
| 994882 | Uncertain Significance: not provided | 69,035,852(+) |
C/T NM_000144.5(FXN):c.70C>T (p.Leu24Phe) |
MISSENSE | |
| 994883 | Uncertain Significance: not provided | 69,035,863(+) |
C/T NM_000144.5(FXN):c.81C>T (p.Val27=) |
SYNONYMOUS | |
| 994884 | Uncertain Significance: not provided | 69,035,774(+) |
C/G NM_000144.5(FXN):c.-9C>G |
FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.90;
18.80% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FXN Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXN Gene
Disorders for FXN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| friedreich ataxia |
|
|
| hereditary ataxia |
|
|
| autosomal recessive disease |
|
|
| ataxia with vitamin 3 deficiency |
|
|
| friedreich ataxia 2 |
|
|
Search FXN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FRDA_HUMAN- Friedreich ataxia (FRDA) [MIM:229300]: 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. {ECO:0000269 PubMed:10732799, ECO:0000269 PubMed:10874325, ECO:0000269 PubMed:19629184, ECO:0000269 PubMed:9150176, ECO:0000269 PubMed:9779809, ECO:0000269 PubMed:9989622, ECO:0000269 Ref.36, ECO:0000269 Ref.7, ECO:0000269 Ref.8}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for FXN
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for FXN Gene
Publications for FXN Gene
- Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. (PMID: 17331979) Shan Y … Cortopassi G (Human molecular genetics 2007) 3 4 22 72
- Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. (PMID: 9989622) Cossée M … Pandolfo M (Annals of neurology 1999) 3 4 22 72
- Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PMID: 20053667) Condò I … Testi R (Human molecular genetics 2010) 3 4 22
- The in vivo mitochondrial two-step maturation of human frataxin. (PMID: 18725397) Schmucker S … Puccio H (Human molecular genetics 2008) 3 4 22
- In vivo maturation of human frataxin. (PMID: 17468497) Condò I … Testi R (Human molecular genetics 2007) 3 4 22
ExternalLinks
Products for FXN Gene
- Custom Antibody ServicesOriGene Antibodies for FXN
- 73-207
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- CF504254
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- OriGene qPCR primer pairs for FXN
- OriGene qPCR primer pairs and template standards for FXN
- OriGene CRISPR knockouts for FXN
- MG224586
- MR224586
- MR224586L3
- MR224586L4
- RC204880
- RC204880L1
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- RR216040
- MR224586L3V
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- RC204880L1V
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- RC219677L3V
- RC219677L4V
- RC228108L1V
- RC228108L2V
- RC228108L3V
- RC228108L4V
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for FXN
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- Abcam antibodies for FXN
- Abcam proteins for FXN
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- VectorBuilder Custom and pre-made DNA vectors for FXN (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for FXN (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for FXN (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for FXN CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for FXN
- Addgene plasmids for FXN
- antibodies-online: Show 54 available Frataxin Antibodies ranked by validation data
- Compare Top Frataxin Antibodies
- antibodies-online: Show 13 available Frataxin Elisa Kits ranked by validation data
- Compare Top Frataxin Elisa Kits
- antibodies-online: Show 21 available Frataxin Proteins ranked by validation data
- Compare Top Frataxin Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for FXN
- Search Santa Cruz Biotechnology (SCBT) for FXN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FXN
- Custom Antibody ServicesProSci Antibodies for FXN
- Search for FXN Proteins at ProSci
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXN
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for FXN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXN
Sources for FXN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources