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Aliases for FDX2 Gene

Aliases for FDX2 Gene

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

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 Myopathy. Among its related pathways are Metabolism and HIV Life Cycle. An important paralog of this gene is ENSG00000167807.

UniProtKB/Swiss-Prot for FDX2 Gene

  • Essential for heme A and Fe/S protein biosynthesis.

Additional gene information for FDX2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FDX2 Gene

Genomics for FDX2 Gene

GeneHancer (GH) Regulatory Elements for FDX2 Gene

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 EPDnew Ensembl ENCODE 657.2 +0.3 261 1.9 PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A ZNF2 YY1 POLR2B ZNF143 FDX2 ENSG00000167807 GC19M010314 GC19M010317 KRI1 FBXL12 ILF3 LOC100419831 ZNF559 ZNF266
GH19J010317 Promoter 0.5 EPDnew 650.7 -1.1 -1105 0.1 ENSG00000167807 FDX2 GC19M010314 GC19M010317 RAVER1 ENSG00000267303
GH19J010005 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 10.6 +307.7 307702 4.8 HDGF PKNOX1 SIN3A FEZF1 GLI4 GLIS2 FOS SP3 MIER2 TSHZ1 COL5A3 LOC100419831 ZNF559 ZNF177 KRI1 ZNF121 ZNF846 LOC100418883 OR7D1P OR7E19P
GH19J010700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -385.7 -385660 1.7 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 E2F8 ZNF207 QTRT1 ZNF627 ILF3 LOC100419831 FBXL12 KRI1 DNMT1 RAVER1 YIPF2 CDC37
GH19J010331 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.9 -17.7 -17662 3.7 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 RAVER1 ENSG00000274425 PIR48013 ILF3 LOC100419831 ZNF266 KRI1 FBXL12 DNMT1 PPAN
- 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 UCSC Golden Path with GeneCards custom track

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 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:
    • Q8N8B8

    Protein attributes for FDX2 Gene

    Size:
    183 amino acids
    Molecular mass:
    19521 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    No Data Available

    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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FDX2 Gene

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 TAS,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

Phenotypes for FDX2 Gene

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for FDX2 Gene

GeneLoc Exon Structure for
FDX2
ECgene alternative splicing isoforms for
FDX2

Expression for FDX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FDX2 Gene:

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).

Evidence on tissue expression from TISSUES for FDX2 Gene

  • Intestine(4)
  • Liver(4)
  • Nervous system(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 34 33
  • 98.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FDX1L 34 33
  • 86.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FDX1L 34 33
  • 86.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fdx1l 16 34 33
  • 83.14 (n)
rat
(Rattus norvegicus)
Mammalia Fdx1l 33
  • 82.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fdx1l 33
  • 62.22 (n)
Str.7854 33
zebrafish
(Danio rerio)
Actinopterygii fdx1l 34 33
  • 71.61 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5955 33
fruit fly
(Drosophila melanogaster)
Insecta Fdxh 34 33
  • 63.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006799 33
  • 59.33 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y73F8A.27 33
  • 58.63 (n)
Y73F8A.27 34
  • 51 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL169C 33
  • 55.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAH1 34 33
  • 53.94 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10307g 33
  • 48.18 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MFDX1 33
  • 52.01 (n)
rice
(Oryza sativa)
Liliopsida Os09g0437900 33
  • 52.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07794 33
  • 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 squirt (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 from dbSNP and Humsavar for FDX2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1064794814 likely-benign, not specified 10,315,505(-) GGAAGTGCGAA/AGAAG intron_variant
rs149654332 likely-benign, not specified 10,310,597(-) C/T coding_sequence_variant, synonymous_variant
rs150936648 likely-benign, not specified 10,315,991(-) G/A/T coding_sequence_variant, synonymous_variant
rs202049669 likely-benign, not specified 10,316,041(-) G/A upstream_transcript_variant
rs746644117 likely-benign, not specified 10,316,049(-) G/A/C upstream_transcript_variant

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

(1) MalaCards diseases for FDX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards
Search FDX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FDX2

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

No data available for UniProtKB/Swiss-Prot and 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 58
  2. 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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for FDX2 Gene

Sources for FDX2 Gene

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