FDXR (ferredoxin reductase)

Gene

• Entrez ID: 2232
• Gene name: Ferredoxin reductase
• Gene symbol: FDXR
• Synonyms (NCBI Gene): ADR, ADXR, ANOA, MMDS9B
• 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 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
rs1441084539	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555620021	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1598515363	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598518754	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

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
MIRT994435	hsa-miR-2355-5p	CLIP-seq
MIRT994436	hsa-miR-4283	CLIP-seq
MIRT994437	hsa-miR-4419a	CLIP-seq
MIRT994438	hsa-miR-4459	CLIP-seq
MIRT994439	hsa-miR-4488	CLIP-seq
MIRT994440	hsa-miR-4489	CLIP-seq
MIRT994441	hsa-miR-4492	CLIP-seq
MIRT994442	hsa-miR-4498	CLIP-seq
MIRT994443	hsa-miR-4505	CLIP-seq
MIRT994444	hsa-miR-4508	CLIP-seq
MIRT994445	hsa-miR-4510	CLIP-seq
MIRT994446	hsa-miR-4697-5p	CLIP-seq
MIRT994447	hsa-miR-4731-5p	CLIP-seq
MIRT994448	hsa-miR-4779	CLIP-seq
MIRT994449	hsa-miR-665	CLIP-seq
MIRT994450	hsa-miR-711	CLIP-seq
MIRT994451	hsa-miR-762	CLIP-seq
MIRT994434	hsa-miR-129-3p	CLIP-seq
MIRT994450	hsa-miR-711	CLIP-seq
MIRT994434	hsa-miR-129-3p	CLIP-seq
MIRT2228980	hsa-miR-150	CLIP-seq
MIRT994450	hsa-miR-711	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TP53	Unknown	12370809
TP63	Unknown	12370809
TP73	Unknown	12370809

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	29040572
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2845396
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2845396
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IBA
GO:0006694	Process	Steroid biosynthetic process	TAS	1863359
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38425362
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA

Other IDs

• MIM: 103270
• HGNC: 3642
• e!Ensembl: ENSG00000161513

Protein

• UniProt ID: 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
  ILGQGNVALDVARILLTPPEHLERTDITKAALGVLRQSRVKTVWLVGRRGPLQVAFTIKE
  LREMIQLPGARPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAEAARQASAS
  RAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSI
  GYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQM
  LLQDLKAGLLPSGPRPGYAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLV
  DPQEMLRLLGH

• Sequence length: 491

Pathways

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Auditory neuropathy-optic atrophy syndrome	Likely pathogenic; Pathogenic	rs2144662023, rs752001360, rs2509785660, rs752143061, rs1313895172, rs1555620021, rs1323016653, rs760345680, rs1598518754, rs1441084539, rs752675360	RCV001822885 RCV002468708 RCV002468709 RCV000509578 RCV000509571 RCV000509574 RCV001823149 RCV002470935 RCV000850552 RCV000850553 RCV003152758
FDXR-related disorder	Likely pathogenic; Pathogenic	rs778143816, rs760345680	RCV003956651 RCV003411472
Multiple mitochondrial dysfunctions syndrome 9b	Pathogenic; Likely pathogenic	rs752001360, rs2509785660, rs2509788341, rs1323016653, rs760345680, rs1598515363, rs752675360	RCV004595665 RCV004595666 RCV004588573 RCV004595517 RCV004595518 RCV004595557 RCV004595586
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Likely pathogenic	rs752675360	RCV001263152
Phenylketonuria	Likely pathogenic	rs752675360	RCV006257331

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely benign	rs148950642	RCV005933268
Auditory neuropathy	Conflicting classifications of pathogenicity	rs199826370	RCV003483892
Cholangiocarcinoma	Benign	rs2070920	RCV005918859
Clear cell carcinoma of kidney	Uncertain significance	rs201431096	RCV005922770
Colon adenocarcinoma	Likely benign	rs200240114	RCV005927150
Familial cancer of breast	Uncertain significance	rs201431096	RCV005922769
Ferrodoxin Reductase (FDXR) Deficiency	Conflicting classifications of pathogenicity	rs746953590	RCV006438506
Lung cancer	Benign; Uncertain significance	rs2070920, rs201431096	RCV005918860 RCV005922772
Malignant lymphoma, large B-cell, diffuse	Benign	rs2070920	RCV005918855
Melanoma	Uncertain significance; Likely benign	rs201431096, rs200240114	RCV005922771 RCV005927151
Ovarian serous cystadenocarcinoma	Benign	rs2070920	RCV005918856
Thymoma	Benign	rs2070920	RCV005918858
Uterine carcinosarcoma	Benign	rs2070920	RCV005918857
Uterine corpus endometrial carcinoma	Benign	rs2070920	RCV005918861

Associations from Text Mining
Disease Name	Relationship Type	References
Acne Vulgaris	Associate	12787114
Acute Radiation Syndrome	Associate	33476246, 35680903, 37676284, 38499035
Adrenocortical Carcinoma	Associate	25691058
Alopecia	Associate	12787114
Atrial Fibrillation	Associate	35003319
Auditory neuropathy	Associate	28965846
Carcinoma Renal Cell	Associate	26814892, 36225932
Colorectal Neoplasms	Associate	11590433
Cone Rod Dystrophies	Associate	33938912
Disease	Associate	33938912
Hearing Loss Sensorineural	Associate	33938912
Hematologic Diseases	Associate	37676284
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26492917
Hereditary Sensory and Autonomic Neuropathies	Associate	28965846
Hirsutism	Associate	12787114
Iron Overload	Associate	22101253, 28965846
Lipoid congenital adrenal hyperplasia	Associate	1661294
Lung Neoplasms	Associate	21489244
Mitochondrial Diseases	Associate	28965846
Multiple Sclerosis	Associate	38178798
Neoplasms	Inhibit	26814892
Neuroblastoma	Associate	28886198
Optic Atrophy	Associate	28965846, 33938912
Polycystic Ovary Syndrome	Associate	37445796
Primary Ovarian Insufficiency	Associate	20672904
Retinal Dystrophies	Associate	33938912
Retinitis Pigmentosa	Associate	22436252