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FDX2 ferredoxin 2 [ Homo sapiens (human) ]

Gene ID: 112812, updated on 8-Mar-2025

Summary

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Official Symbol
FDX2provided by HGNC
Official Full Name
ferredoxin 2provided by HGNC
Primary source
HGNC:HGNC:30546
See related
Ensembl:ENSG00000267673 MIM:614585; AllianceGenome:HGNC:30546
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FDX1L; MEOAL
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 by RefSeq, Sep 2014]
Expression
Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

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See FDX2 in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10310045..10316015, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10436158..10442125, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10420721..10426691, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10402483-10403475 Neighboring gene intercellular adhesion molecule 5 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10415538-10416737 Neighboring gene FDX2-ZGLP1 readthrough Neighboring gene zinc finger GATA like protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10064 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10427579-10427770 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10430834-10431047 Neighboring gene ribonucleoprotein, PTB binding 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10442682-10443598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10443599-10444515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10445230-10445848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10448906-10449654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13960 Neighboring gene intercellular adhesion molecule 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Human ferredoxin-2 displays a unique conformational change. Qi W, et al. Dalton Trans, 2013 Mar 7. PMID 23208207, Free PMC Article
  2. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Spiegel R, et al. Eur J Hum Genet, 2014 Jul. PMID 24281368, Free PMC Article
  3. Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2. Grifagni D, et al. Protein Sci, 2024 Nov. PMID 39467201, Free PMC Article
  4. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Gurgel-Giannetti J, et al. Brain, 2018 Aug 1. PMID 30010796, Free PMC Article
  5. Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2. Schulz V, et al. Nat Chem Biol, 2023 Feb. PMID 36280795, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
    Title: Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
  2. Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
    Title: Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
  3. FDX1 and FDX2 both bind NFS1 and donate electrons for iron-sulfur cluster biosynthesis.
    Title: Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.
  4. By binding zinc-free ISCU, iron drives persulfide uptake from NFS1 and allows persulfide reduction into sulfide by FDX2, thereby coordinating sulfide production with its availability to generate Fe-S clusters. FXN stimulates the whole process by accelerating persulfide transfer. This reconstitution recapitulates physiological conditions which provides a model for Fe-S cluster biosynthesis on the scaffold protein ISCU.
    Title: Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
  5. The phenotype was mapped to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue.
    Title: A novel complex neurological phenotype due to a homozygous mutation in FDX2.
  6. Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy.
    Title: Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
  7. unique conformational change is observed when holo hFd2 is warmed to physiological temperatures, or higher
    Title: Human ferredoxin-2 displays a unique conformational change.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC19604, MGC74760

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables electron transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables electron transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in P450-containing electron transport chain IEA
Inferred from Electronic Annotation
more info
  
involved_in [2Fe-2S] cluster assembly IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of [4Fe-4S] cluster assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in iron-sulfur cluster assembly NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of iron-sulfur cluster assembly complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
ferredoxin-2, mitochondrial
Names
adrenodoxin-like protein, mitochondrial
ferredoxin 1 like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034259.1 RefSeqGene

    Range
    5001..10971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001397406.1 → NP_001384335.1  ferredoxin-2, mitochondrial

    Status: REVIEWED

    Source sequence(s)
    AC011511
    Consensus CDS
    CCDS32905.3
    UniProtKB/Swiss-Prot
    B7Z6L7, Q6P4F2, Q8N8B8
    Related
    ENSP00000377311.5, ENST00000393708.3
    Conserved Domains (1) summary
    PLN02593
    Location:68 → 183
    PLN02593; adrenodoxin-like ferredoxin protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    10310045..10316015 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10436158..10442125 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080665.3: Suppressed sequence

    Description
    NM_080665.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P4F2.3 GenPept UniProtKB/Swiss-Prot:Q6P4F2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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