Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2232
Gene name Gene Name - the full gene name approved by the HGNC.	Ferredoxin reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FDXR
Synonyms (NCBI Gene) Gene synonyms aliases	ADR, ADXR, ANOA, MMDS9B
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ANOA, MMDS9B
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.1
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(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
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

Show/Hide all(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
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

Show/Hide all(3)

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

Show/Hide all(13)

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

MIM	HGNC	e!Ensembl
103270	3642	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

Interactions

View interactions

	Reactome
			Pregnenolone biosynthesis Endogenous sterols Electron transport from NADPH to Ferredoxin Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (37 more)
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome			GenCC

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining
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

FDXR (ferredoxin reductase)