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FDX2 (ferredoxin 2)
Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112812
Gene nameGene Name - the full gene name approved by the HGNC.
Ferredoxin 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FDX2
SynonymsGene synonyms aliases
FDX1L, MEOAL
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005759 Component Mitochondrial matrix TAS
GO:0006700 Process C21-steroid hormone biosynthetic process TAS
GO:0009055 Function Electron transfer activity IEA
GO:0016125 Process Sterol metabolic process TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6P4F2
Protein name Ferredoxin-2, mitochondrial (Adrenodoxin-like protein) (Ferredoxin-1-like protein)
Protein function Electron donor, of the core iron-sulfur cluster (ISC) assembly complex, that acts to reduce the persulfide into sulfide during [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:28001042). The core iron-sulfur cluster (ISC) assem
PDB 2Y5C , 8RMC , 8RMD , 8RMF , 8RMG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00111 Fer2
76 → 159
2Fe-2S iron-sulfur cluster binding domain
 Domain
Sequence 
MHVMAASMARGGVSARVLLQAARGTWWNRPGGTSGSGEGVALGTTRKFQATGSRPAGEED
AGGPERPGDVVNVVFVDRSGQRIPVSGRVGDNVLHLAQRHGVDLEGACEASLACSTCHVY
VSEDHLDLLPPPEEREDDMLDMAPLLQENSRLGCQIVLTPELEGAEFTLPKITRNFYVDG
HVPKPH
Sequence length 186
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Mitochondrial iron-sulfur cluster biogenesis
Pregnenolone biosynthesis
Endogenous sterols
Electron transport from NADPH to Ferredoxin
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Associated diseases
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Mitochondrial myopathy Mitochondrial Myopathies rs121434454 24281368, 30010796
Unknown
Disease name Disease term dbSNP ID References
Luft disease Luft Disease
Macroglossia Macroglossia
Megaconial myopathies Megaconial Myopathies
Motor delay Clumsiness - motor delay

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