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 name Gene Name - the full gene name approved by the HGNC.
Ferredoxin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FDX2
Synonyms (NCBI Gene) Gene synonyms aliases
FDX1L, MEOAL
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary 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
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614585 30546 ENSG00000267673
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
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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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
Mitochondrial myopathy mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease 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