FDXR (ferredoxin reductase)

Gene

• Entrez ID: 2232
• Gene name: Ferredoxin reductase
• Gene symbol: FDXR
• Synonyms: 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	TAS	2845396
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
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:0006694	Process	Steroid biosynthetic process	TAS	1863359
GO:0006700	Process	C21-steroid hormone biosynthetic process	TAS
GO:0006744	Process	Ubiquinone biosynthetic process	IBA	21873635
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0015039	Function	NADPH-adrenodoxin reductase activity	IBA	21873635
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IBA	21873635

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
Disease name	Disease term	dbSNP ID	References
Auditory neuropathy-optic atrophy syndrome	AUDITORY NEUROPATHY AND OPTIC ATROPHY, Auditory neuropathy-optic atrophy syndrome	rs752143061, rs1313895172, rs1555620021, rs1323016653, rs760345680, rs746953590, rs1598518754, rs1441084539	28965846
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Unknown
Disease name	Disease term	dbSNP ID	References
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome