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] See more...

Aliases for FDX2 Gene

Aliases for FDX2 Gene

  • Ferredoxin 2 2 3 5
  • Ferredoxin-2, Mitochondrial 3 4
  • FDX1L 3 4
  • Adrenodoxin-Like Protein, Mitochondrial 3
  • Ferredoxin-1-Like Protein 4
  • Adrenodoxin-Like Protein 4
  • Ferredoxin 1-Like 2
  • Ferredoxin 1 Like 3
  • MGC19604 2
  • MEOAL 3
  • FDX2 5

External Ids for FDX2 Gene

Previous HGNC Symbols for FDX2 Gene

  • FDX1L

Previous GeneCards Identifiers for FDX2 Gene

  • GC00U990097
  • GC19M010311
  • GC19M010313

Summaries for FDX2 Gene

Entrez Gene Summary for FDX2 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 by RefSeq, Sep 2014]

GeneCards Summary for FDX2 Gene

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 Diseases of metabolism and Metabolism of steroid hormones. An important paralog of this gene is ENSG00000167807.

UniProtKB/Swiss-Prot Summary for FDX2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FDX2 Gene

Genomics for FDX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FDX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FDX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FDX2

Genomic Locations for FDX2 Gene

Latest Assembly
chr19:10,310,045-10,316,015
(GRCh38/hg38)
Size:
5,971 bases
Orientation:
Minus strand

Previous Assembly
chr19:10,420,721-10,426,691
(GRCh37/hg19 by Entrez Gene)
Size:
5,971 bases
Orientation:
Minus strand

chr19:10,416,103-10,426,691
(GRCh37/hg19 by Ensembl)
Size:
10,589 bases
Orientation:
Minus strand

Genomic View for FDX2 Gene

Genes around FDX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FDX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FDX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FDX2 Gene

Proteins for FDX2 Gene

  • Protein details for FDX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P4F2-FDX2_HUMAN
    Recommended name:
    Ferredoxin-2, mitochondrial
    Protein Accession:
    Q6P4F2
    Secondary Accessions:
    • B7Z6L7
    • Q8N8B8

    Protein attributes for FDX2 Gene

    Size:
    186 amino acids
    Molecular mass:
    19888 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH63460.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FDX2 Gene

    Alternative splice isoforms for FDX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FDX2 Gene

Post-translational modifications for FDX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FDX2 Gene

No data available for DME Specific Peptides for FDX2 Gene

Domains & Families for FDX2 Gene

Gene Families for FDX2 Gene

Protein Domains for FDX2 Gene

Suggested Antigen Peptide Sequences for FDX2 Gene

GenScript: Design optimal peptide antigens:
  • Ferredoxin-1-like protein (ADXL_HUMAN)
  • cDNA FLJ39703 fis, clone SMINT2012195 (Q8N8B8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P4F2

UniProtKB/Swiss-Prot:

FDX2_HUMAN :
  • Belongs to the adrenodoxin/putidaredoxin family.
Family:
  • Belongs to the adrenodoxin/putidaredoxin family.
genes like me logo Genes that share domains with FDX2: view

Function for FDX2 Gene

Molecular function for FDX2 Gene

UniProtKB/Swiss-Prot Function:
Essential for heme A and Fe/S protein biosynthesis.

Phenotypes From GWAS Catalog for FDX2 Gene

Gene Ontology (GO) - Molecular Function for FDX2 Gene

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 --
genes like me logo Genes that share ontologies with FDX2: view
genes like me logo Genes that share phenotypes with FDX2: view

Human Phenotype Ontology for FDX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for FDX2 Gene

miRTarBase miRNAs that target FDX2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDX2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FDX2 Gene

Localization for FDX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FDX2 Gene

Mitochondrion. Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FDX2 gene
Compartment Confidence
mitochondrion 4
cytosol 2
plasma membrane 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FDX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with FDX2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FDX2 Gene

Pathways & Interactions for FDX2 Gene

genes like me logo Genes that share pathways with FDX2: view

Gene Ontology (GO) - Biological Process for FDX2 Gene

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 --
genes like me logo Genes that share ontologies with FDX2: view

No data available for SIGNOR curated interactions for FDX2 Gene

Drugs & Compounds for FDX2 Gene

No Compound Related Data Available

Transcripts for FDX2 Gene

mRNA/cDNA for FDX2 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDX2

Alternative Splicing Database (ASD) splice patterns (SP) for FDX2 Gene

No ASD Table

Relevant External Links for FDX2 Gene

GeneLoc Exon Structure for
FDX2

Expression for FDX2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FDX2

mRNA Expression by UniProt/SwissProt for FDX2 Gene:

Q6P4F2-FDX2_HUMAN
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:24281368).

Evidence on tissue expression from TISSUES for FDX2 Gene

  • Nervous system(4.2)
  • Liver(4.2)
  • Intestine(4)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FDX2 Gene

Orthologs for FDX2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FDX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FDX1L 29 30
  • 98.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FDX1L 29 30
  • 86.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FDX1L 29 30
  • 86.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fdx1l 29 30
  • 83.14 (n)
OneToOne
Fdx2 16
Rat
(Rattus norvegicus)
Mammalia Fdx1l 29
  • 82.18 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 81 (a)
ManyToMany
-- 30
  • 48 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 69 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fdx1l 29
  • 62.22 (n)
Str.7854 29
Zebrafish
(Danio rerio)
Actinopterygii fdx1l 29 30
  • 71.61 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5955 29
Fruit Fly
(Drosophila melanogaster)
Insecta Fdxh 29 30
  • 63.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006799 29
  • 59.33 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y73F8A.27 29
  • 58.63 (n)
Y73F8A.27 30
  • 51 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL169C 29
  • 55.45 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAH1 29 30
  • 53.94 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10307g 29
  • 48.18 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MFDX1 29
  • 52.01 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0437900 29
  • 52.87 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07794 29
  • 52.05 (n)
Species where no ortholog for FDX2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FDX2 Gene

ENSEMBL:
Gene Tree for FDX2 (if available)
TreeFam:
Gene Tree for FDX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FDX2: view image
Alliance of Genome Resources:
Additional Orthologs for FDX2

Paralogs for FDX2 Gene

Paralogs for FDX2 Gene

Pseudogenes.org Pseudogenes for FDX2 Gene

genes like me logo Genes that share paralogs with FDX2: view

Variants for FDX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FDX2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
985120 Likely Pathogenic: Inborn genetic diseases 10,315,994(-) C/A
NM_001031734.4(FDX2):c.12G>T (p.Met4Ile)
MISSENSE
rs1048941 Benign: not specified; not provided 10,310,540(-) C/A
NM_001031734.4(FDX2):c.507G>T (p.Leu169=)
SYNONYMOUS
rs1064794814 Likely Benign: not specified 10,315,505(-) GGAAGTGCGAA/AGAA
NM_001031734.4(FDX2):c.210-23_210-13delinsCTTCT
INTRON
rs138346574 Likely Benign: not specified 10,315,914(-) C/G
NM_001031734.4(FDX2):c.92G>C (p.Gly31Ala)
MISSENSE
rs145549252 Benign: not specified 10,316,029(-) G/GCGC
NM_001031734.3(FDX2):c.-27_-25dup

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FDX2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FDX2 Gene

Variant ID Type Subtype PubMed ID
esv2667969 CNV deletion 23128226
nsv470124 CNV gain 18288195

Variation tolerance for FDX2 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FDX2 Gene

Human Gene Mutation Database (HGMD)
FDX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FDX2
Leiden Open Variation Database (LOVD)
FDX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FDX2 Gene

Disorders for FDX2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for FDX2 Gene - From: OMI, CVR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FDX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FDX2_HUMAN
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) [MIM:251900]: An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy. {ECO:0000269 PubMed:24281368, ECO:0000269 PubMed:30010796}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FDX2

genes like me logo Genes that share disorders with FDX2: view

No data available for Genatlas for FDX2 Gene

Publications for FDX2 Gene

  1. A novel complex neurological phenotype due to a homozygous mutation in FDX2. (PMID: 30010796) Gurgel-Giannetti J … Kok F (Brain : a journal of neurology 2018) 3 4 72
  2. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. (PMID: 24281368) Spiegel R … Elpeleg O (European journal of human genetics : EJHG 2014) 2 3 4
  3. Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis. (PMID: 22101253) Shi Y … Rouault TA (Biochimica et biophysica acta 2012) 2 3
  4. Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis. (PMID: 20547883) Sheftel AD … Lill R (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for FDX2 Gene

Sources for FDX2 Gene