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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] See more...
Aliases for FDXR Gene
Aliases for FDXR Gene
External Ids for FDXR Gene
- HGNC: 3642
- Entrez Gene: 2232
- Ensembl: ENSG00000161513
- OMIM: 103270
- UniProtKB: P22570
Previous HGNC Symbols for FDXR Gene
- ADXR
Previous GeneCards Identifiers for FDXR Gene
- GC17M072875
- GC17M075917
- GC17M073322
- GC17M073455
- GC17M070370
- GC17M072858
- GC17M068269
Summaries 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 Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferredoxin-NADP+ reductase activity. An important paralog of this gene is DPYD.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for FDXR Gene
- HGNC(3642)
- Entrez Gene(2232)
- Ensembl(ENSG00000161513)
- OMIM(103270)
- UniProtKB(P22570)
- Open Targets Platform(ENSG00000161513)
- Search for FDXR at DataMed
- Search for FDXR at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FDXR Gene
Genomics for FDXR Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FDXR 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 FDXR on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FDXR
- Top Transcription factor binding sites by QIAGEN in the FDXR gene promoter:
-
- AREB6
- E47
- HNF-4alpha1
- HNF-4alpha2
- ITF-2
- MZF-1
- NRSF form 1
- NRSF form 2
- SEF-1 (1)
- Tal-1beta
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)
- Size:
- 10,538 bases
- Orientation:
- Minus strand
Genomic View for FDXR Gene
Genes around FDXR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
FDXR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- Miscellaneous:
-
- [Isoform Long]: Represents 10-20% of all adrenodoxin reductase mRNAs and seems to be inactive.
Protein Expression 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
Other Protein References for FDXR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences FDXR Antibody (LS-B5921) and FDXR Antibody (LS-B11626)
-
Custom Antibody ServicesOriGene Antibodies for FDXR
- Novus Biologicals Antibodies for FDXR
-
Abcam antibodies for FDXR
- Invitrogen Antibodies for FDXR (AFLGC-FDXR)
-
Boster Bio Antibodies for FDXR
-
Santa Cruz Biotechnology (SCBT) Antibodies for FDXR
- Sino Biological Antibodies for FDXR
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FDXR
- Origene Custom Protein Services for FDXR
-
Abcam proteins for FDXR
Assay Products
- antibodies-online: Show 7 available Ferredoxin Reductase Elisa Kits ranked by validation data
- Compare Top Ferredoxin Reductase Elisa Kits
-
Quality Products:
Domains & Families for FDXR Gene
Gene Families for FDXR Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for FDXR Gene
- InterPro:
- Blocks:
-
- Adrenodoxin reductase family signature
- FAD-dependent pyridine nucleotide reductase signature
- ProtoNet:
Suggested Antigen Peptide Sequences for FDXR Gene
- GenScript: Design optimal peptide antigens:
-
- Ferredoxin--NADP(+) reductase (ADRO_HUMAN)
- cDNA FLJ53329, highly similar to NADPH:adrenodoxin oxidoreductase, mitochondrial (EC 1.18.1.2) (B4DHX5_HUMAN)
- cDNA FLJ59386, highly similar to NADPH:adrenodoxin oxidoreductase, mitochondrial (EC 1.18.1.2) (B4DQQ4_HUMAN)
- cDNA FLJ54567, highly similar to NADPH:adrenodoxin oxidoreductase, mitochondrial (EC 1.18.1.2) (B7Z7G2_HUMAN)
- Ferredoxin reductase, isoform CRA_e (Q6GSK2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P22570- Family:
-
- Belongs to the ferredoxin--NADP reductase type 1 family.
Function for FDXR Gene
Molecular function for FDXR Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H(+) + NADP(+) + 2 reduced [adrenodoxin] = NADPH + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:42312, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15378, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.18.1.6; Evidence={ECO:0000250|UniProtKB:P08165};.
- GENATLAS Biochemistry:
- ferredoxin oxidoreductase,electron transport flavoprotein for mitochondrial P450s
Enzyme Numbers (IUBMB) for FDXR Gene
Phenotypes From GWAS Catalog for FDXR Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004324 | ferredoxin-NADP+ reductase activity | TAS | 2845396 |
| GO:0015039 | NADPH-adrenodoxin reductase activity | IEA,IBA | 21873635 |
| GO:0016491 | oxidoreductase activity | IEA,IBA | 21873635 |
Phenotypes for FDXR Gene
- MGI mutant phenotypes for FDXR:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FDXR:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FDXR - Select products 50% OFF >
- * FDXR CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FDXR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FDXR
-
Santa Cruz Biotechnology (SCBT) CRISPR for FDXR
miRNA for FDXR Gene
- miRTarBase miRNAs that target FDXR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FDXR
- Browse OriGene Inhibitory RNA Products For FDXR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDXR
Clone Products
- Applied Biological Materials (abm): Clones for FDXR - Select products 50% OFF >
- * FDXR as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207920
- MR207920
- MR207920L3
- MR207920L4
- RC200363
- RC200363L1
- RC200363L2
- RC200363L3
- RC200363L4
- RC221571
- RC221571L3
- RC221571L4
- RC234100
- RC234139
- RC234233
- RC234349
- RC234369
- RG200363
- RG221571
- RG234100
- RG234139
- RG234233
- RG234349
- RG234369
- RR207796
- RR207796L3
- RR207796L4
- MR207920L3V
- MR207920L4V
- RC200363L1V
- RC200363L2V
- RC200363L3V
- RC200363L4V
- RC221571L3V
- RC221571L4V
- RR207796L3V
- RR207796L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FDXR
- Addgene plasmids for FDXR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FDXR
No data available for 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 inner membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,IDA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for FDXR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | Diseases of metabolism | ||
| 3 | Metabolism |
.40
|
|
| 4 | Metabolism of steroid hormones | ||
| 5 | HIV Life Cycle |
.45
|
|
Pathways by source for FDXR Gene
1 BioSystems pathway for FDXR Gene
UniProtKB/Swiss-Prot P22570-ADRO_HUMAN
- Pathway: Steroid metabolism; cholesterol metabolism.
Interacting Proteins for FDXR Gene
GPS-Prot Interaction Network for FDXR
| 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 | 21873635 |
No data available for SIGNOR curated interactions for FDXR Gene
Transcripts for FDXR Gene
mRNA/cDNA for FDXR Gene
- 7 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000293195 1846 nts (view in UCSC)
- ENST00000413947 1809 nts (view in UCSC)
- ENST00000420580 1705 nts (view in UCSC)
- ENST00000442102 1967 nts (view in UCSC)
- ENST00000544854 1827 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FDXR - Select products 50% OFF >
- * FDXR CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FDXR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FDXR
-
Santa Cruz Biotechnology (SCBT) CRISPR for FDXR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FDXR
- Browse OriGene Inhibitory RNA Products For FDXR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDXR
Clone Products
- Applied Biological Materials (abm): Clones for FDXR - Select products 50% OFF >
- * FDXR as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207920
- MR207920
- MR207920L3
- MR207920L4
- RC200363
- RC200363L1
- RC200363L2
- RC200363L3
- RC200363L4
- RC221571
- RC221571L3
- RC221571L4
- RC234100
- RC234139
- RC234233
- RC234349
- RC234369
- RG200363
- RG221571
- RG234100
- RG234139
- RG234233
- RG234349
- RG234369
- RR207796
- RR207796L3
- RR207796L4
- MR207920L3V
- MR207920L4V
- RC200363L1V
- RC200363L2V
- RC200363L3V
- RC200363L4V
- RC221571L3V
- RC221571L4V
- RR207796L3V
- RR207796L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FDXR
- Addgene plasmids for FDXR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FDXR
| 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
Expression for FDXR Gene
mRNA differential expression in normal tissues according to GTEx for FDXR Gene
This gene is overexpressed in Adrenal Gland (x20.5).
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, MaxQB, and MOPED for FDXR Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FDXR
SOURCE GeneReport for Unigene cluster for FDXR Gene:
Hs.69745Evidence on tissue expression from TISSUES for FDXR Gene
- Nervous system(4.7)
- Adrenal gland(4.7)
- Lung(4.6)
- Liver(4.5)
- Kidney(2.5)
- Skin(2.4)
- Heart(2.2)
- Blood(2.2)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for FDXR
-
OriGene qPCR primer pairs and template standards for FDXR
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FDXR 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FDXR 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fdxr 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fdxr 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FDXR 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FDXR 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FDXR 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FDXR 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | FDXR 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fdxr 30 |
|
||
| Str.11467 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8959 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100536115 30 |
|
||
| fdxr 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | dare 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005419 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y62E10A.6 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ARH1 31 33 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G32360 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0277600 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08005 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | arh1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for FDXR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for FDXR: view image
Paralogs for FDXR Gene
Variants for FDXR Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FDXR Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 689759 | Likely Pathogenic: Auditory neuropathy-optic atrophy syndrome | 74,864,922(-) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 689760 | Likely Pathogenic: Auditory neuropathy-optic atrophy syndrome | 74,866,166(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 730651 | Benign: not provided | 74,864,278(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 769224 | Benign: not provided | 74,866,908(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
| 769225 | Benign: not provided | 74,866,471(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FDXR Gene
Disorders for FDXR Gene
(10) MalaCards diseases for FDXR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| auditory neuropathy and optic atrophy |
|
|
| optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
|
|
| 46,xy sex reversal |
|
|
| autosomal recessive disease |
|
|
| adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete |
|
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Search FDXR in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ADRO_HUMAN- Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]: An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. {ECO:0000269 PubMed:28965846}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FDXR
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FDXR Gene
Publications for FDXR Gene
- 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 23
- 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
- FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. (PMID: 28965846) Paul A … Marlin S (American journal of human genetics 2017) 3 4
- 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
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
ExternalLinks
Products for FDXR Gene
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Sources for FDXR Gene
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