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    FDXR ferredoxin reductase [ Homo sapiens (human) ]

    Gene ID: 2232, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FDXRprovided by HGNC
    Official Full Name
    ferredoxin reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:3642
    See related
    Ensembl:ENSG00000161513 MIM:103270; AllianceGenome:HGNC:3642
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADR; ADXR; ANOA; MMDS9B
    Summary
    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]
    Expression
    Biased expression in adrenal (RPKM 75.2), testis (RPKM 17.3) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FDXR in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74862497..74872994, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75754283..75764782, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72858619..72869119, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8941 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779452-72779972 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779973-72780491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72781052-72781552 Neighboring gene transmembrane protein 104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72808337-72809052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72824331-72824831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72827400-72828320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8944 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2C Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72850908-72851103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72856835-72857533 Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72870273-72871173 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4853 Neighboring gene Sharpr-MPRA regulatory region 12632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875167-72875668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875669-72876168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72878575-72879105 Neighboring gene fatty acid desaturase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene USH1 protein network component sans

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. FDXR variants cause adrenal insufficiency and atypical sexual development. Pignatti E, et al. JCI Insight, 2024 Jun 17. PMID 38885337, Free PMC Article
    2. In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation. Cruz-Garcia L, et al. Int J Mol Sci, 2020 Oct 23. PMID 33113898, Free PMC Article
    3. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Stenton SL, et al. Hum Mutat, 2021 Mar. PMID 33348459
    4. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. Jurkute N, et al. Invest Ophthalmol Vis Sci, 2021 May 3. PMID 33938912, Free PMC Article
    5. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. Paul A, et al. Am J Hum Genet, 2017 Oct 5. PMID 28965846, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FDXR variants cause adrenal insufficiency and atypical sexual development.
      Title: FDXR variants cause adrenal insufficiency and atypical sexual development.
    2. FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
      Title: FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
    3. FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
      Title: FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
    4. FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
      Title: FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
    5. Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.
      Title: Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.
    6. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
      Title: Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
    7. Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.
      Title: Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.
    8. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
      Title: Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
    9. Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.
      Title: Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.
    10. In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation.
      Title: In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Auditory neuropathy-optic atrophy syndrome
    MedGen: C4521678 OMIM: 617717 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADPH-adrenodoxin reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ferredoxin-NADP+ reductase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in NADPH oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    NADPH:adrenodoxin oxidoreductase, mitochondrial
    Names
    AR
    adrenodoxin reductase
    adrenodoxin-NADP(+) reductase
    epididymis secretory sperm binding protein
    ferredoxin--NADP(+) reductase
    NP_001244941.2
    NP_001244942.2
    NP_001244943.2
    NP_001244944.1
    NP_001244945.2
    NP_004101.3
    NP_077728.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001258012.4 → NP_001244941.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an in-frame additional segment in the coding region, compared to variant 1. The resulting isoform (3) is longer than isoform 1.
      Source sequence(s)
      AC087651, AK295307, AW590330
      Consensus CDS
      CCDS58595.1
      UniProtKB/Swiss-Prot
      B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
      UniProtKB/TrEMBL
      A0A0A0MT64, Q6GSK2
      Related
      ENSP00000416515.2, ENST00000442102.6
      Conserved Domains (1) summary
      PLN02852
      Location:30 → 530
      PLN02852; ferredoxin-NADP+ reductase

    2. NM_001258013.4 → NP_001244942.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has a longer and alternate segment in the 5' coding region, compared to variant 1. The resulting isoform (4) is longer than isoform 1.
      Source sequence(s)
      AC087651, AK293208, AW590330, DA267443
      Consensus CDS
      CCDS58596.1
      UniProtKB/Swiss-Prot
      B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
      UniProtKB/TrEMBL
      A0A0A0MSZ4, Q6GSK2
      Related
      ENSP00000408595.2, ENST00000413947.6
      Conserved Domains (2) summary
      PLN02852
      Location:71 → 518
      PLN02852; ferredoxin-NADP+ reductase
      pfam13450
      Location:74 → 118
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    3. NM_001258014.4 → NP_001244943.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AC087651, AK301779, AW590330
      Consensus CDS
      CCDS58592.1
      UniProtKB/Swiss-Prot
      B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
      UniProtKB/TrEMBL
      A0A0A0MTR6, Q6GSK2
      Related
      ENSP00000462183.1, ENST00000582944.5
      Conserved Domains (2) summary
      PLN02852
      Location:30 → 479
      PLN02852; ferredoxin-NADP+ reductase
      pfam13450
      Location:43 → 93
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    4. NM_001258015.3 → NP_001244944.1  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 6 precursor

      See identical proteins and their annotated locations for NP_001244944.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AC087651, AK295307, AK298908, BC018911
      Consensus CDS
      CCDS58594.1
      UniProtKB/Swiss-Prot
      B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
      UniProtKB/TrEMBL
      Q6GSK2
      Related
      ENSP00000414172.2, ENST00000420580.6
      Conserved Domains (2) summary
      PLN02852
      Location:30 → 447
      PLN02852; ferredoxin-NADP+ reductase
      pfam13450
      Location:43 → 88
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    5. NM_001258016.3 → NP_001244945.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (7) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC087651, AK301779, AK301977, BC018911
      Consensus CDS
      CCDS58591.1
      UniProtKB/TrEMBL
      A0A0A0MTN9, B4DDI9
      Related
      ENSP00000445432.1, ENST00000544854.5
      Conserved Domains (1) summary
      COG0493
      Location:10 → 435
      GltD; NADPH-dependent glutamate synthase beta chain or related oxidoreductase [Amino acid transport and metabolism, General function prediction only]

    6. NM_004110.6 → NP_004101.3  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_004101.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an in-frame additional segment in the coding region, compared to variant 1. The resulting isoform (2) is longer than isoform 1.
      Source sequence(s)
      AW590330, DA267443, J03826
      Consensus CDS
      CCDS11707.1
      UniProtKB/Swiss-Prot
      B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
      UniProtKB/TrEMBL
      A0A0C4DGN7, Q6GSK2
      Related
      ENSP00000462972.1, ENST00000581530.5
      Conserved Domains (2) summary
      PLN02852
      Location:30 → 493
      PLN02852; ferredoxin-NADP+ reductase
      pfam13450
      Location:43 → 87
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    7. NM_024417.5 → NP_077728.3  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_077728.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. It encodes isoform 1.
      Source sequence(s)
      BC018911, DA267443
      Consensus CDS
      CCDS58593.1
      UniProtKB/Swiss-Prot
      B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
      UniProtKB/TrEMBL
      A0A0C4DFN8, Q6GSK2
      Related
      ENSP00000293195.5, ENST00000293195.10
      Conserved Domains (2) summary
      PLN02852
      Location:30 → 487
      PLN02852; ferredoxin-NADP+ reductase
      pfam13450
      Location:43 → 87
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    RNA

    1. NR_047576.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has an alternate splice site at the 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to inhibit translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087651, AK293210, AK295307, BC018911
      Related
      ENST00000577509.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74862497..74872994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75754283..75764782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22570.3 GenPept UniProtKB/Swiss-Prot:P22570

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