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Aliases for FDXR Gene

Aliases for FDXR Gene

  • Ferredoxin Reductase 2 3 4 5
  • Adrenodoxin Reductase 2 3 4
  • Adrenodoxin-NADP(+) Reductase 2 3
  • Ferredoxin--NADP(+) Reductase 3 4
  • ADXR 3 4
  • AR 3 4
  • NADPH:Adrenodoxin Oxidoreductase, Mitochondrial 3
  • EC 1.18.1.2 56
  • EC 1.18.1.6 4
  • ANOA 3

External Ids for FDXR Gene

Previous HGNC Symbols for FDXR Gene

  • ADXR

Previous GeneCards Identifiers for FDXR Gene

  • GC17M072875
  • GC17M075917
  • GC17M073322
  • GC17M073455
  • GC17M070370
  • GC17M072858
  • GC17M068269

Summaries for FDXR Gene

Entrez Gene Summary for FDXR Gene

  • This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for FDXR Gene

FDXR (Ferredoxin Reductase) is a Protein Coding gene. Diseases associated with FDXR include Auditory Neuropathy And Optic Atrophy and Locked-In Syndrome. Among its related pathways are Direct p53 effectors and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferredoxin-NADP+ reductase activity.

UniProtKB/Swiss-Prot for FDXR Gene

  • Serves as the first electron transfer protein in all the mitochondrial P450 systems. Including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver.

Gene Wiki entry for FDXR Gene

Additional gene information for FDXR Gene

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

Genomics for FDXR Gene

GeneHancer (GH) Regulatory Elements for FDXR Gene

Promoters and enhancers for FDXR 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
GH17I074871 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 569.4 -2.1 -2106 7.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 ZNF263 SP3 FDXR NT5C UNK NUP85 GGA3 ENSG00000266980 GRIN2C LOC101928343 SLC16A5 FADS6
GH17I074868 Promoter/Enhancer 1.4 EPDnew dbSUPER 550.8 +4.2 4239 0.1 HDGF PKNOX1 ATF1 ARNT POLR2B ZNF766 GATA2 E2F8 ATF7 NCOA1 FDXR GGA3 ENSG00000270993 GRIN2C
GH17I074866 Enhancer 0.8 ENCODE 19.2 +7.7 7727 0.2 HDGF RB1 ARID4B KLF17 MZF1 SCRT2 ZNF143 RCOR1 ATF7 DEK FDXR GRIN2C
GH17I074840 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.4 +30.8 30785 3.4 RB1 ARID4B RAD21 ZNF121 GLIS2 ZNF143 REST GLIS1 ZNF341 MYC PIR37943 GRIN2C FDXR FADS6 PIR51683
GH17I074790 Enhancer 1.1 Ensembl ENCODE 11.3 +81.7 81667 1.1 PKNOX1 ATF1 MLX ARNT ARID4B SIN3A ZNF2 ZNF48 ARID2 ZNF143 RAB37 GRIN2C SLC9A3R1 FDXR FADS6 OTOP3 CD300LF TMEM104 PIR51683
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FDXR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FDXR gene promoter:

Genomic Locations for FDXR Gene

Genomic Locations for FDXR Gene
chr17:74,862,497-74,873,031
(GRCh38/hg38)
Size:
10,535 bases
Orientation:
Minus strand
chr17:72,858,619-72,869,156
(GRCh37/hg19)

Genomic View for FDXR Gene

Genes around FDXR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FDXR Gene

Proteins for FDXR Gene

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

    Protein Symbol:
    P22570-ADRO_HUMAN
    Recommended name:
    NADPH:adrenodoxin oxidoreductase, mitochondrial
    Protein Accession:
    P22570
    Secondary Accessions:
    • B4DDI7
    • B4DHX5
    • B4DQQ4
    • B4DX24
    • B7Z7G2
    • E7EQC1
    • Q13716
    • Q4PJI0
    • Q9BU12

    Protein attributes for FDXR Gene

    Size:
    491 amino acids
    Molecular mass:
    53837 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer. Interacts directly with FDX1.

    Alternative splice isoforms for FDXR Gene

neXtProt entry for FDXR Gene

Selected DME Specific Peptides for FDXR Gene

P22570:
  • VGRRGPLQ
  • PVSFSDWEK
  • SARAFVGWYNGLPEN
  • GNVALDVAR
  • FTIKELRE
  • GPAGFYTAQHL
  • GLYCSGWVKRGPTGVI
  • IPGEELPGV
  • GVAPDHP
  • AHVDIYEKQ

Post-translational modifications for FDXR Gene

Domains & Families for FDXR Gene

Gene Families for FDXR Gene

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

Graphical View of Domain Structure for InterPro Entry

P22570

UniProtKB/Swiss-Prot:

ADRO_HUMAN :
  • Belongs to the ferredoxin--NADP reductase type 1 family.
Family:
  • Belongs to the ferredoxin--NADP reductase type 1 family.
genes like me logo Genes that share domains with FDXR: view

Function for FDXR Gene

Molecular function for FDXR Gene

GENATLAS Biochemistry:
ferredoxin oxidoreductase,electron transport flavoprotein for mitochondrial P450s
UniProtKB/Swiss-Prot CatalyticActivity:
2 reduced adrenodoxin + NADP(+) = 2 oxidized adrenodoxin + NADPH.
UniProtKB/Swiss-Prot Function:
Serves as the first electron transfer protein in all the mitochondrial P450 systems. Including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver.

Enzyme Numbers (IUBMB) for FDXR Gene

Gene Ontology (GO) - Molecular Function for FDXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004324 ferredoxin-NADP+ reductase activity TAS 2845396
GO:0005515 protein binding IPI --
GO:0015039 NADPH-adrenodoxin reductase activity IBA,IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0070402 NADPH binding IEA --
genes like me logo Genes that share ontologies with FDXR: view
genes like me logo Genes that share phenotypes with FDXR: view

Clone Products

  • Addgene plasmids for FDXR

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FDXR Gene

Localization for FDXR Gene

Subcellular locations from UniProtKB/Swiss-Prot for FDXR Gene

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 FDXR gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FDXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix IEA,TAS --
genes like me logo Genes that share ontologies with FDXR: view

Pathways & Interactions for FDXR Gene

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

UniProtKB/Swiss-Prot P22570-ADRO_HUMAN

  • Pathway: Steroid metabolism; cholesterol metabolism.

Gene Ontology (GO) - Biological Process for FDXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 2845396
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process TAS 1863359
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0006744 ubiquinone biosynthetic process IBA --
genes like me logo Genes that share ontologies with FDXR: view

No data available for SIGNOR curated interactions for FDXR Gene

Drugs & Compounds for FDXR Gene

(10) Drugs for FDXR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0

(20) Additional Compounds for FDXR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with FDXR: view

Transcripts for FDXR Gene

Unigene Clusters for FDXR Gene

Ferredoxin reductase:
Representative Sequences:

Clone Products

  • Addgene plasmids for FDXR

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6:
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - - - - - -
SP11: - - - - -
SP12: - - - - -
SP13: - - - -
SP14: - - - -
SP15: -
SP16: - - - - - -

ExUns: 12 ^ 13 ^ 14 ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for FDXR Gene

GeneLoc Exon Structure for
FDXR
ECgene alternative splicing isoforms for
FDXR

Expression for FDXR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FDXR Gene

mRNA differential expression in normal tissues according to GTEx for FDXR Gene

This gene is overexpressed in Adrenal Gland (x20.5).

Protein differential expression in normal tissues from HIPED for FDXR Gene

This gene is overexpressed in Adrenal (29.0), Fetal testis (12.5), and Testis (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FDXR Gene



Protein tissue co-expression partners for FDXR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FDXR Gene:

FDXR

SOURCE GeneReport for Unigene cluster for FDXR Gene:

Hs.69745

Evidence on tissue expression from TISSUES for FDXR Gene

  • Adrenal gland(4.7)
  • Nervous system(4.7)
  • Liver(4.5)
  • Lung(4.4)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with FDXR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FDXR Gene

Orthologs for FDXR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FDXR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FDXR 33 34
  • 97.39 (n)
dog
(Canis familiaris)
Mammalia FDXR 33 34
  • 88.93 (n)
rat
(Rattus norvegicus)
Mammalia Fdxr 33
  • 85.88 (n)
mouse
(Mus musculus)
Mammalia Fdxr 33 16 34
  • 85.74 (n)
cow
(Bos Taurus)
Mammalia FDXR 33 34
  • 83.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FDXR 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FDXR 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves FDXR 33
  • 68.84 (n)
lizard
(Anolis carolinensis)
Reptilia FDXR 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fdxr 33
  • 67.58 (n)
Str.11467 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8959 33
zebrafish
(Danio rerio)
Actinopterygii LOC100536115 33
  • 63.14 (n)
fdxr 34
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dare 35 33 34
  • 55.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005419 33
  • 53.64 (n)
worm
(Caenorhabditis elegans)
Secernentea Y62E10A.6 35 34
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARH1 34 36
  • 34 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32360 33
  • 51 (n)
rice
(Oryza sativa)
Liliopsida Os02g0277600 33
  • 52.68 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08005 33
  • 53.08 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arh1 33
  • 46.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToOne
Species where no ortholog for FDXR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 FDXR Gene

ENSEMBL:
Gene Tree for FDXR (if available)
TreeFam:
Gene Tree for FDXR (if available)

Paralogs for FDXR Gene

No data available for Paralogs for FDXR Gene

Variants for FDXR Gene

Sequence variations from dbSNP and Humsavar for FDXR Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs752143061 pathogenic, AUDITORY NEUROPATHY AND OPTIC ATROPHY 74,864,234(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs997026784 pathogenic, AUDITORY NEUROPATHY AND OPTIC ATROPHY 74,862,864(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1017904946 uncertain-significance, not provided 74,863,078(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs770691402 uncertain-significance, not provided 74,866,514(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000102186 -- 74,865,428(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv518292 CNV loss 19592680
nsv833540 CNV loss 17160897
nsv952367 CNV deletion 24416366

Variation tolerance for FDXR Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.80; 83.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FDXR Gene

Human Gene Mutation Database (HGMD)
FDXR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FDXR

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

Disorders for FDXR Gene

MalaCards: The human disease database

(5) MalaCards diseases for FDXR Gene - From: HGMD, OMIM, ClinVar, and DISEASES

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

Additional Disease Information for FDXR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FDXR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FDXR Gene

Publications for FDXR Gene

  1. Cloning and sequence of the human adrenodoxin reductase gene. (PMID: 2236061) Lin D … Miller WL (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 22 58
  2. Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues. (PMID: 2845396) Solish SB … Miller WL (Proceedings of the National Academy of Sciences of the United States of America 1988) 2 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Correlation of fragile histidine triad (Fhit) protein structural features with effector interactions and biological functions. (PMID: 19004824) Pichiorri F … Huebner K (The Journal of biological chemistry 2009) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for FDXR Gene

Sources for FDXR Gene

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