FDX2 Gene (Protein Coding)

Ferredoxin 2

GC19M010311
GIFtS:
28
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

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 Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. An important paralog of this gene is ENSG00000167807.

UniProtKB/Swiss-Prot Summary for FDX2 Gene

Additional gene information 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

Download GeneHancer 2017 data
Promoters and enhancers for FDX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J010314 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.1 +0.4 358 2.1 HNRNPL CREB1 PRDM10 ZNF629 TFE3 IKZF1 ZNF692 POLR2A BACH1 JUND FDX2 ENSG00000167807 lnc-RAVER1-1 FBXL12 ILF3 LOC100419831 ZNF559 ZNF266 KRI1 ENSG00000270614
GH19J010318 Enhancer 0.3 Ensembl 600.7 -1.5 -1486 0.2 ADNP ZBTB33 ENSG00000167807 FDX2 lnc-RAVER1-1 ENSG00000267303 RAVER1
GH19J010317 Promoter 0.3 EPDnew 600.7 -1.1 -1105 0.1 ENSG00000167807 FDX2 lnc-RAVER1-1 RAVER1 ENSG00000267303
GH19J010700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -385.5 -385486 2.2 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SIX5 LEF1 QTRT1 ILF3 ZNF627 LOC100419831 FBXL12 KRI1 DNMT1 PRKCSH YIPF2 PPAN
GH19J010005 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 10.6 +307.7 307667 4.9 ARHGAP35 CREB1 TEAD4 PRDM10 ZNF629 REST ZNF692 PRDM1 ZIC2 ZNF776 COL5A3 LOC100419831 ZNF559 ZNF177 ILF3 KRI1 DNMT1 ZNF121 ZNF846 ZNF317
- 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

Genomic Locations for FDX2 Gene
chr19:10,310,045-10,316,015
(GRCh38/hg38)
Size:
5,971 bases
Orientation:
Minus strand
chr19:10,416,103-10,426,691
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for FDX2 Gene

Proteins for FDX2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FDX2 Gene

Domains & Families for FDX2 Gene

Gene Families for FDX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FDX2 Gene

InterPro:
Blocks:
  • Ferredoxin
  • Adrenodoxin
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Animal Model Products

CRISPR Products

miRNA for FDX2 Gene

miRTarBase miRNAs that target FDX2

Inhibitory RNA Products

  • 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FDX2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 :

CRISPR Products

Inhibitory RNA Products

  • 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

Products:

  1. Primer

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

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

Primer Products

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 30 31
  • 98.91 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FDX1L 30 31
  • 86.89 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FDX1L 30 31
  • 86.7 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Fdx1l 30 31
  • 83.14 (n)
 OneToOne
Fdx2 17
Rat
(Rattus norvegicus)
 Mammalia Fdx1l 30
  • 82.18 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 81 (a)
 ManyToMany
-- 31
  • 48 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 69 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fdx1l 30
  • 62.22 (n)
Str.7854 30
Zebrafish
(Danio rerio)
 Actinopterygii fdx1l 30 31
  • 71.61 (n)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5955 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Fdxh 30 31
  • 63.31 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006799 30
  • 59.33 (n)
Worm
(Caenorhabditis elegans)
 Secernentea CELE_Y73F8A.27 30
  • 58.63 (n)
Y73F8A.27 31
  • 51 (a)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFL169C 30
  • 55.45 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YAH1 30 31
  • 53.94 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B10307g 30
  • 48.18 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons MFDX1 30
  • 52.01 (n)
Rice
(Oryza sativa)
 Liliopsida Os09g0437900 30
  • 52.87 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07794 30
  • 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

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
668503 Likely Benign: not provided 10,315,509(-) G/T INTRON_VARIANT
rs1048941 Benign: not specified; not provided 10,310,540(-) C/A SYNONYMOUS_VARIANT
rs1064794814 Likely Benign: not specified 10,315,505(-) GGAAGTGCGAA/AGAA INTRON_VARIANT
rs138346574 Likely Benign: not specified 10,315,914(-) C/G MISSENSE_VARIANT
rs145549252 Benign: not specified 10,316,029(-) G/GCGC

Additional dbSNP identifiers (rs#s) for FDX2 Gene

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

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

Disorders for FDX2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FDX2 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for FDX2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FDX2: view

No data available for Genatlas for FDX2 Gene

Publications for FDX2 Gene

  1. 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
  2. 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
  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

ExternalLinks

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