Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2395
Gene name Gene Name - the full gene name approved by the HGNC.
Frataxin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FXN
Synonyms (NCBI Gene) Gene synonyms aliases
CyaY, FA, FARR, FRDA, X25
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.11
Summary Summary of gene provided in NCBI Entrez 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 r
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs56214919 T>G Likely-pathogenic Synonymous variant, missense variant, coding sequence variant
rs104894105 T>C,G Pathogenic Coding sequence variant, stop gained, missense variant
rs104894106 A>G,T Pathogenic Coding sequence variant, missense variant
rs104894107 G>C,T Pathogenic Coding sequence variant, missense variant
rs104894108 G>A,T Pathogenic Initiator codon variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007228 hsa-miR-559 Luciferase reporter assay 23382970
MIRT007229 hsa-miR-589-5p Luciferase reporter assay 23382970
MIRT007230 hsa-miR-1270 Luciferase reporter assay 23382970
MIRT007231 hsa-miR-620 Luciferase reporter assay 23382970
MIRT007232 hsa-miR-522-3p Luciferase reporter assay 23382970
Transcription factors
Transcription factor Regulation Reference
SRF Unknown 20808827
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004322 Function Ferroxidase activity IDA 15641778
GO:0004322 Function Ferroxidase activity IEA
GO:0005515 Function Protein binding IPI 15123683, 15961414, 26702583, 31101807, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606829 3951 ENSG00000165060
Protein
UniProt ID Q16595
Protein name Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: Frataxin intermediate form (i-FXN); Frataxin(56-210) (m56-FXN); Frataxin(78-210) (d-FXN) (m78-FXN); Frataxin mature form (Frataxin(81-210)) (m81-FXN); Extramitochondria
Protein function [Frataxin mature form]: Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly (PubMed:12785837, PubMe
PDB 1EKG , 1LY7 , 3S4M , 3S5D , 3S5E , 3S5F , 3T3J , 3T3K , 3T3L , 3T3T , 3T3X , 5KZ5 , 6NZU , 8PK8 , 8PK9 , 8RME
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01491 Frataxin_Cyay 90 198 Frataxin-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. {ECO:0000269|PubMed:17468497}.
Sequence
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR
GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF
EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV
SLHELLAAELTKALKTKL
DLSSLAYSGKDA
Sequence length 210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Porphyrin metabolism   Mitochondrial protein import
Mitochondrial iron-sulfur cluster biogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Friedreich Ataxia friedreich ataxia 1, friedreich ataxia rs886037630, rs143232208, rs146818694, rs104894105, rs140987490, rs104894106, rs104894108, rs56214919, rs141935559 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ankle Injuries Associate 19485941
Ataxia Associate 17110750, 19485941, 20001966, 23242090, 33348670, 34747814, 38396238
Carcinogenesis Associate 31074541
Carcinoma Hepatocellular Associate 29447225
Carcinoma Renal Cell Associate 19679182
Cardiomyopathies Associate 10900192, 11121484, 16608849, 19485941, 20001966, 31446150, 38396238
Cardiomyopathy Hypertrophic Associate 31446150, 34923139
Charcot Marie Tooth Disease Associate 34747814
Chromosomal Instability Associate 32989015
Chromosome Fragility Associate 26379101