| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 2395 |
Name | FXN |
Synonym | CyaY|FA|FARR|FRDA|X25;frataxin;FXN;frataxin |
Definition | Friedreich ataxia protein|frataxin, mitochondrial |
Position | 9q21.11 |
Gene Type | protein-coding |
|
TSG scores |
Description |
| TUSON ranking | 7441 |
TUSON P-value | 1 |
|
Pathways and Diseases |
|
Pathway | HIF-2-alpha transcription factor network;PID Curated;200030 |
Disease | diabetes, type 2;GAD |
Disease | Friedreich ataxia;KEGG DISEASE;H00067 |
Disease | Friedreich ataxia with retained reflexes;OMIM |
Disease | Nervous system diseases;KEGG DISEASE |
Disease | METABOLIC;GAD |
Disease | Neurodegenerative diseases;KEGG DISEASE |
Disease | G130V mutation;GAD |
Disease | Friedreich ataxia;OMIM |
|
External Links |
|
Links to Entrez Gene | 2395 |
Links to all GeneRIF Items | 2395 |
Links to iHOP | 2395 |
|
Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>2395 : length: 633 atgtggactctcgggcgccgcgcagtagccggcctcctggcgtcacccagcccagcccag gcccagaccctcacccgggtcccgcggccggcagagttggccccactctgcggccgccgt ggcctgcgcaccgacatcgatgcgacctgcacgccccgccgcgcaagttcgaaccaacgt ggcctcaaccagatttggaatgtcaaaaagcagagtgtctatttgatgaatttgaggaaa tctggaactttgggccacccaggctctctagatgagaccacctatgaaagactagcagag gaaacgctggactctttagcagagttttttgaagaccttgcagacaagccatacacgttt gaggactatgatgtctcctttgggagtggtgtcttaactgtcaaactgggtggagatcta ggaacctatgtgatcaacaagcagacgccaaacaagcaaatctggctatcttctccatcc agtggacctaagcgttatgactggactgggaaaaactgggtgtactcccacgacggcgtg tccctccatgagctgctggccgcagagctcactaaagccttaaaaaccaaactggacttg tcttccttggcctattccggaaaagatgcttga |
Protein Sequence |
>2395 : length: 210 MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV SLHELLAAELTKALKTKLDLSSLAYSGKDA |