Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]
FDX2 (Ferredoxin 2) is a Protein Coding gene. Diseases associated with FDX2 include Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy and Mitochondrial Myopathy. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. An important paralog of this gene is ENSG00000167807.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0009055 | electron transfer activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0051536 | iron-sulfur cluster binding | IEA | -- |
GO:0051537 | 2 iron, 2 sulfur cluster binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Diseases of metabolism | ||
3 | Metabolism |
.40
|
|
4 | Metabolism of steroid hormones | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006700 | C21-steroid hormone biosynthetic process | TAS | -- |
GO:0016125 | sterol metabolic process | TAS | -- |
GO:0022900 | electron transport chain | IEA | -- |
GO:0044281 | small molecule metabolic process | TAS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FDX1L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FDX1L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FDX1L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fdx1l 30 31 |
|
OneToOne | |
Fdx2 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Fdx1l 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fdx1l 30 |
|
||
Str.7854 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | fdx1l 30 31 |
|
OneToMany | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5955 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Fdxh 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006799 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y73F8A.27 30 |
|
||
Y73F8A.27 31 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFL169C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YAH1 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B10307g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MFDX1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os09g0437900 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07794 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668503 | Likely Benign: not provided | 10,315,509(-) | G/T | INTRON_VARIANT | |
rs1048941 | Benign: not specified; not provided | 10,310,540(-) | C/A | SYNONYMOUS_VARIANT | |
rs1064794814 | Likely Benign: not specified | 10,315,505(-) | GGAAGTGCGAA/AGAA | INTRON_VARIANT | |
rs138346574 | Likely Benign: not specified | 10,315,914(-) | C/G | MISSENSE_VARIANT | |
rs145549252 | Benign: not specified | 10,316,029(-) | G/GCGC |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2667969 | CNV | deletion | 23128226 |
nsv470124 | CNV | gain | 18288195 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy |
|
|
mitochondrial myopathy |
|
|
myopathy |
|
|
multiple mitochondrial dysfunctions syndrome 1 |
|
|
combined oxidative phosphorylation deficiency 19 |
|
|