Aliases for FXN Gene
Aliases for FXN Gene
External Ids for FXN Gene
- HGNC: 3951
- Entrez Gene: 2395
- Ensembl: ENSG00000165060
- OMIM: 606829
- UniProtKB: 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 1 and Vitamin E, Familial Isolated Deficiency Of. Among its related pathways are Metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include iron-sulfur cluster binding and ferrous iron binding.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for FXN at DataMed
- Search for FXN at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXN Gene
Genomics for FXN Gene
GeneHancer (GH) Regulatory Elements for FXN Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FXN gene promoter:
-
- AP-1
- c-Jun
- ATF-2
Regulatory Element Products
Genomic Locations for FXN Gene
Genomic Locations for FXN Gene
- chr9:69,035,259-69,120,427
- (GRCh38/hg38)
- Size:
- 85,169 bases
- Orientation:
- Plus strand
- chr9:71,650,175-71,715,094
- (GRCh37/hg19)
- Size:
- 64,920 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 Entrez Gene
- 9q21.11 by HGNC
- 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 wight aggregates that incoroprate 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.
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 isoforms=197
- Modification sites at PhosphoSitePlus
Other Protein References for FXN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FXN
-
Abcam antibodies for FXN
- Invitrogen Antibodies for FXN
- GeneTex FXN Antibody for FXN
-
Boster Bio Antibodies for FXN
Protein Products
-
OriGene Purified Proteins for FXN
- Search Origene for MassSpec and Protein Over-expression Lysates for FXN
- Origene Custom Protein Services for FXN
- ProSpec Recombinant Proteins for FXN
- Search GeneTex for Proteins for FXN
-
Abcam proteins for FXN
Assay Products
-
Abcam assays for FXN
No data available for DME Specific Peptides for FXN Gene
Domains & Families for FXN Gene
Gene Families for FXN Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
- Transporters
Protein Domains for FXN Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FXN Gene
- GenScript: Design optimal peptide antigens:
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:
- 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
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 | IDA | 15641778 |
| GO:0005515 | protein binding | IPI | 15123683 |
| GO:0008198 | ferrous iron binding | IDA | 12785837 |
| GO:0008199 | ferric iron binding | 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:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Lamellipodia cells
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FXN
-
CRISPR Products
-
OriGene CRISPR knockouts for FXN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXN
- genomics-online: gRNA clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- Applied Biological Materials CRISPR for FXN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXN
- GenScript: Design CRISPR guide RNA sequences 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)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
Clone Products
-
OriGene ORF clones in human for FXN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FXN
- VectorBuilder custom plasmid, inducible vectors for FXN
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FXN
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FXN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FXN
- Applied Biological Materials Clones for FXN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| nucleus | 2 |
| extracellular | 1 |
- Cytosol (3)
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IDA | 17468497 |
| GO:0005759 | mitochondrial matrix | NAS,TAS | -- |
| GO:0005829 | cytosol | IDA | 17468497 |
Pathways & Interactions for FXN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Porphyrin and chlorophyll metabolism | ||
| 2 | Metabolism |
.37
|
|
| 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
GPS-Prot Interaction Network for FXN
| 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,IBA | -- |
No data available for SIGNOR curated interactions for FXN Gene
Drugs & Compounds for FXN Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fe2+ |
|
15438-31-0 |
|
|||
| Hydrogen Ion |
|
|
Transcripts for FXN Gene
mRNA/cDNA for FXN Gene
- (3) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (62) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000643639 7471 bps
- ENST00000642330 2156 bps
- ENST00000644653 2632 bps
- ENST00000396366 922 bps (uc004agz.3)
- ENST00000484259 6961 bps (uc064toz.1)
CRISPR Products
-
OriGene CRISPR knockouts for FXN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXN
- genomics-online: gRNA clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- Applied Biological Materials CRISPR for FXN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXN
- GenScript: Design CRISPR guide RNA sequences for FXN
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
Clone Products
-
OriGene ORF clones in human for FXN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FXN
- VectorBuilder custom plasmid, inducible vectors for FXN
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FXN
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FXN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FXN
- Applied Biological Materials Clones for FXN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | - | ||||||||||||||||
| SP4: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of FXN Gene:
FXNSOURCE 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(4.5)
- Eye(4.3)
- Heart(2.6)
- Muscle(2.5)
- Blood(2)
- Pancreas(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
-
OriGene qPCR primer pairs and template standards for FXN
-
OriGene qPCR primer pairs for FXN
Gene Expression Assay Products
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 33 |
|
||
| cow (Bos Taurus) |
Mammalia | FXN 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FXN 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fxn 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fxn 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FXN 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FXN 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FXN 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100497789 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fxn 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | fh 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | frh-1 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YFH1 36 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | FH 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0783600 33 |
|
- Species where no ortholog for FXN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
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
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894105 | pathogenic, Friedreich's ataxia, Friedreich ataxia (FRDA) [MIM:229300] | 69,053,193(+) | T/C/G | coding_sequence_variant, missense_variant, stop_gained | |
| rs104894106 | pathogenic, Friedreich's ataxia, Friedreich ataxia (FRDA) [MIM:229300] | 69,065,013(+) | A/G/T | coding_sequence_variant, missense_variant | |
| rs104894107 | pathogenic, Friedreich's ataxia, Friedreich ataxia (FRDA) [MIM:229300] | 69,064,942(+) | G/C/T | coding_sequence_variant, missense_variant | |
| rs104894108 | pathogenic, Friedreich's ataxia | 69,035,785(+) | G/A/T | initiator_codon_variant, missense_variant | |
| rs138034837 | Friedreich ataxia (FRDA) [MIM:229300] | 69,072,622(+) | C/T | coding_sequence_variant, intron_variant, missense_variant, synonymous_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXN Gene
Disorders for FXN Gene
(21) MalaCards diseases for FXN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| friedreich ataxia 1 |
|
|
| vitamin e, familial isolated deficiency of |
|
|
| hereditary ataxia |
|
|
| anemia, sideroblastic, and spinocerebellar ataxia |
|
|
| hemochromatosis, type 1 |
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for FXN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FXN Gene
Publications for FXN Gene
- Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PMID: 20053667) Condò I … Testi R (Human molecular genetics 2010) 3 4 22 58
- The in vivo mitochondrial two-step maturation of human frataxin. (PMID: 18725397) Schmucker S … Puccio H (Human molecular genetics 2008) 3 4 22 58
- 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 58
- In vivo maturation of human frataxin. (PMID: 17468497) Condò I … Testi R (Human molecular genetics 2007) 3 4 22 58
- A pool of extramitochondrial frataxin that promotes cell survival. (PMID: 16608849) Condò I … Testi R (The Journal of biological chemistry 2006) 3 4 22 58
Products for FXN Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for FXN
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for FXN
- Search Origene for MassSpec and Protein Over-expression Lysates for FXN
- Origene Custom Protein Services for FXN
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FXN
- Browse OriGene Inhibitory RNA Products For FXN
- OriGene qPCR primer pairs and template standards for FXN
- OriGene qPCR primer pairs for FXN
- OriGene CRISPR knockouts for FXN
- OriGene ORF clones in human for FXN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FXN
- GenScript: Next-day shipping of latest version cDNA ORF clones for FXN in any vector
- GenScript Custom Purified and Recombinant Proteins Services for FXN
- GenScript Custom Assay Services for FXN
- GenScript Custom overexpressing Cell Line Services for FXN
- GenScript: Design CRISPR guide RNA sequences for FXN
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for FXN
- Sino Biological Human cDNA Clone for FXN
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for FXN
- Novus Biologicals proteins and lysates for FXN
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for FXN
- Abcam proteins for FXN
- Abcam assays for FXN
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for FXN
- Cyagen custom Knockout/knockin (KOKI) mouse models for FXN
- VectorBuilder custom plasmid, inducible vectors for FXN
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FXN
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FXN
- antibodies-online: Search results for 145 available Frataxin Antibodies ranked by validation data
- Compare Top Frataxin Antibodies
- antibodies-online: Search results for 9 available Frataxin Elisa Kits ranked by validation data
- Compare Top Frataxin Elisa Kits
- antibodies-online: Search results for 31 available Frataxin Proteins ranked by validation data
- Compare Top Frataxin Proteins
- GeneTex FXN Antibody for FXN
- Search GeneTex for Proteins for FXN
- genomics-online: cdna clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- orf clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- genomics-online: gRNA clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- genomics-online: primer clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- genomics-online: shRNA clones - Search results for 95 available Frataxin gene related products
- Overview of 95 available Frataxin gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FXN
- GeneCopoeia miRNA 3'UTR Target clone products for FXN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXN
- Boster Bio Antibodies for FXN
- Browse Boster Bio ELISA Kits
Sources for FXN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt