FDX2 (ferredoxin 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 112812
Gene name Ferredoxin 2
Gene symbol FDX2
Synonyms (NCBI Gene)
FDX1LMEOAL
Chromosome 19
Chromosome location 19p13.2
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28001042, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 24281368
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614585 30546 ENSG00000267673
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in testis, kidney and brain (at protein level) (PubMed:20547883). Expressed in muscle (at protein level) (PubMed:24281368, PubMed:30010796). Expressed in fibroblasts (at protein level) (PubMed:2428
Sequence 
MHVMAASMARGGVSARVLLQAARGTWWNRPGGTSGSGEGVALGTTRKFQATGSRPAGEED
AGGPERPGDVVNVVFVDRSGQRIPVSGRVGDNVLHLAQRHGVDLEGACEASLACSTCHVY
VSEDHLDLLPPPEEREDDMLDMAPLLQENSRLGCQIVLTPELEGAEFTLPKITRNFYVDG
HVPKPH
Sequence length 186
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inborn mitochondrial myopathy Likely pathogenic rs888630930 RCV000761588
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Conflicting classifications of pathogenicity rs142729488 RCV005912779
FDX2-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs142729488, rs749199027, rs150936648, rs540761649, rs138346574 RCV003946162
RCV003897416
RCV003972624
RCV003953032
RCV003905653
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy Conflicting classifications of pathogenicity; Uncertain significance; Benign rs587777600, rs1394636300, rs378395, rs395782 RCV003883133
RCV003761180
RCV001702465
RCV001702444
Mitochondrial myopathy, episodic, without optic atrophy and reversible leukoencephalopathy Conflicting classifications of pathogenicity rs587777600 RCV001777150
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bovine Respiratory Disease Complex Associate 24281368
COVID 19 Associate 33307546, 35212764
Mitochondrial Myopathies Associate 24281368
Neurologic Manifestations Associate 30010796