Gene Gene information from NCBI Gene database.
Entrez ID 2232
Gene name Ferredoxin reductase
Gene symbol FDXR
Synonyms (NCBI Gene)
ADRADXRANOAMMDS9B
Chromosome 17
Chromosome location 17q25.1
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]
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs752143061 G>A Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs760030067 G>A,C Likely-pathogenic Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs997026784 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1313895172 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1323016653 T>A,C,G Pathogenic Initiator codon variant, genic upstream transcript variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
27
miRTarBase ID miRNA Experiments Reference
MIRT029194 hsa-miR-26b-5p Microarray 19088304
MIRT031555 hsa-miR-16-5p Proteomics 18668040
MIRT041149 hsa-miR-500a-3p CLASH 23622248
MIRT037989 hsa-miR-501-3p CLASH 23622248
MIRT994434 hsa-miR-129-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
TP53 Unknown 12370809
TP63 Unknown 12370809
TP73 Unknown 12370809
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004324 Function Ferredoxin-NADP+ reductase activity IBA
GO:0004324 Function Ferredoxin-NADP+ reductase activity IDA 38425362
GO:0004324 Function Ferredoxin-NADP+ reductase activity IEA
GO:0004324 Function Ferredoxin-NADP+ reductase activity TAS 2845396
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103270 3642 ENSG00000161513
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22570
Protein name NADPH:adrenodoxin oxidoreductase, mitochondrial (AR) (Adrenodoxin reductase) (EC 1.18.1.6) (Ferredoxin--NADP(+) reductase) (Ferredoxin reductase) (EC 1.18.1.-)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07992 Pyr_redox_2 39 224 Pyridine nucleotide-disulphide oxidoreductase Domain
Sequence
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKH
PQAHVDIYEKQPVPFGLVRFGVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDVTVP
ELREAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQELEPDLSCDTAV
ILGQGNVALDVARILLTPPEHLERTDITKAALGVLRQSRVKTVW
LVGRRGPLQVAFTIKE
LREMIQLPGARPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAEAARQASAS
RAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSI
GYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQM
LLQDLKAGLLPSGPRPGYAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLV
DPQEMLRLLGH
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Pregnenolone biosynthesis
Endogenous sterols
Electron transport from NADPH to Ferredoxin
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Auditory neuropathy-optic atrophy syndrome Likely pathogenic; Pathogenic rs2144662023, rs752001360, rs2509785660, rs752143061, rs1313895172, rs1555620021, rs1323016653, rs760345680, rs1598518754, rs1441084539, rs752675360 RCV001822885
RCV002468708
RCV002468709
RCV000509578
RCV000509571
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FDXR-related disorder Likely pathogenic; Pathogenic rs778143816, rs760345680 RCV003956651
RCV003411472
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple mitochondrial dysfunctions syndrome 9b Pathogenic; Likely pathogenic rs752001360, rs2509785660, rs2509788341, rs1323016653, rs760345680, rs1598515363, rs752675360 RCV004595665
RCV004595666
RCV004588573
RCV004595517
RCV004595518
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Likely pathogenic rs752675360 RCV001263152
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auditory neuropathy Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUDITORY NEUROPATHY AND OPTIC ATROPHY Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 28199114
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 14618619
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 19288261
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29539651, 29776746, 30308546
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25691058 Associate
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 14618619
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30198788
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 16197474, 17996583, 19862939
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 35003319 Associate
★☆☆☆☆
Found in Text Mining only
Auditory neuropathy Auditory neuropathy Pubtator 28965846 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)