FDX1

Summary

FDX1 (ferredoxin 1, HGNC:3638) is a protein-coding gene on chromosome 11q22.3, encoding Adrenodoxin, mitochondrial (P10109). Essential for the synthesis of various steroid hormones. It is a selective cancer dependency (DepMap: 19.0% of cell lines).

This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21.

Source: NCBI Gene 2230 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 33 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 19.0% of screened cell lines
• MANE Select transcript: NM_004109

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3638
Approved symbol	FDX1
Name	ferredoxin 1
Location	11q22.3
Locus type	gene with protein product
Status	Approved
Aliases	ADX
Ensembl gene	ENSG00000137714
Ensembl biotype	protein_coding
OMIM	103260
Entrez	2230

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000260270, ENST00000963821, ENST00000963822

RefSeq mRNA: 1 — MANE Select: NM_004109 NM_004109

CCDS: CCDS8344

Canonical transcript exons

ENST00000260270 — 4 exons

Exon	Start	End
ENSE00000930476	110435834	110435958
ENSE00000930477	110456918	110457047
ENSE00000989773	110429948	110430305
ENSE00001005196	110462354	110464884

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.5746 / max 1706.0665, expressed in 1816 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116594	29.8381	1814
116598	5.4060	1587
116597	2.1239	916
116595	2.1198	1013
116596	0.0868	24

Top tissues by expression

299 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.74	gold quality
right adrenal gland cortex	UBERON:0035827	98.73	gold quality
right adrenal gland	UBERON:0001233	98.71	gold quality
left adrenal gland	UBERON:0001234	98.71	gold quality
adrenal cortex	UBERON:0001235	98.55	gold quality
left adrenal gland cortex	UBERON:0035825	98.38	gold quality
adrenal gland	UBERON:0002369	98.34	gold quality
seminal vesicle	UBERON:0000998	97.99	gold quality
nephron tubule	UBERON:0001231	97.58	gold quality
jejunal mucosa	UBERON:0000399	97.15	gold quality
amniotic fluid	UBERON:0000173	96.62	gold quality
jejunum	UBERON:0002115	95.85	gold quality
heart right ventricle	UBERON:0002080	95.74	gold quality
parotid gland	UBERON:0001831	95.43	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.43	gold quality
colonic mucosa	UBERON:0000317	95.21	gold quality
placenta	UBERON:0001987	94.14	gold quality
diaphragm	UBERON:0001103	93.98	gold quality
esophagus squamous epithelium	UBERON:0006920	93.82	gold quality
palpebral conjunctiva	UBERON:0001812	93.73	gold quality
epithelium of esophagus	UBERON:0001976	93.52	gold quality
lower lobe of lung	UBERON:0008949	93.36	gold quality
duodenum	UBERON:0002114	93.27	gold quality
eye	UBERON:0000970	93.15	gold quality
biceps brachii	UBERON:0001507	92.82	gold quality
renal medulla	UBERON:0000362	92.77	gold quality
myocardium	UBERON:0002349	92.65	gold quality
renal glomerulus	UBERON:0000074	92.49	gold quality
adult organism	UBERON:0007023	92.44	gold quality
sperm	CL:0000019	92.26	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	42.50
E-CURD-46	yes	6.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR5A1, SP1

miRNA regulators (miRDB)

92 targeting FDX1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6785-5P	99.82	68.68	4428

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 19.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 30)

• ADX rate of hydroxylation was linear with incubation time. (PMID:12782149)
• Adrenodoxin induces apoptosis by the generation of reactive oxygen species in mitochondria (PMID:15927889)
• Adx is able to support reactions catalyzed by human microsomal P450s: full length CYP17, truncated CYP17, and truncated CYP21 (PMID:17188650)
• Unlike Fdx1, Fdx2 was unable to efficiently reduce mitochondrial cytochromes P450 and convert steroids, indicating that the two ferredoxin isoforms are highly specific for their substrates in distinct biochemical pathways. (PMID:20547883)
• Results present the crystal structure of the complex of human adrenodoxin and CYP11A1–the first of a complex between a eukaryotic CYP and its redox partner. (PMID:21636783)
• Data suggest that interference with any of the three related genes, ferredoxin (FDX)1, FDX2 or FDXR, disrupts iron-sulfur cluster assembly and maintenance of normal cytosolic and mitochondrial iron homeostasis. (PMID:22101253)
• results indicate transcription of FDX1 is regulated by the NR5A family and cAMP signaling, and participates in steroid hormone production in ovarian granulosa ce (PMID:23435367)
• Did not find any positive association between FDX1 SNPs and the risk of IgA nephropathy after adjustment for age and sex, but did find a significant and strong correlation with relevant clinical pathological parameters. (PMID:26370181)
• TNFSF13 and FDX1 have potential roles in IgAN in the Han Chinese population. This information may be useful in the development of early prognostics for IgAN. (PMID:26431901)
• FDX1 and FDX2 both bind NFS1 and donate electrons for iron-sulfur cluster biosynthesis. (PMID:28001042)
• Data suggest that binding sites between CYP11B1/CYP11B2 and adrenodoxin/ferredoxin-1 exhibit electrostatic interactions at K370 in CYP11B1 and at K366 in CYP11B2 mutant R366K with D79 in adrenodoxin/ferredoxin-1. (CYP11B1 = cytochrome P450 family 11 subfamily B member 1; CYP11B2 = cytochrome P450 family 11 subfamily B member 2) (PMID:28355486)
• Active Site Structures of CYP11A1 in the Presence of Its Physiological Substrates and Alterations upon Binding of Adrenodoxin (PMID:28991453)
• Structural and functional insights into aldosterone synthase interaction with its redox partner protein adrenodoxin. (PMID:34015331)
• The role of FDX1 in granulosa cell of Polycystic ovary syndrome (PCOS). (PMID:34130686)
• High expression of cuproptosis-related gene FDX1 in relation to good prognosis and immune cells infiltration in colon adenocarcinoma (COAD). (PMID:36173462)
• Cuproptosis-related gene FDX1 expression correlates with the prognosis and tumor immune microenvironment in clear cell renal cell carcinoma. (PMID:36225932)
• Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2. (PMID:36280795)
• Multi-omics pan-cancer study of cuproptosis core gene FDX1 and its role in kidney renal clear cell carcinoma. (PMID:36605188)
• Ferredoxin 1 regulates granulosa cell apoptosis and autophagy in polycystic ovary syndrome. (PMID:36752638)
• Copper Death Inducer, FDX1, as a Prognostic Biomarker Reshaping Tumor Immunity in Clear Cell Renal Cell Carcinoma. (PMID:36766692)
• Expression of Ferredoxin1 in cisplatin-resistant ovarian cancer cells confers their resistance against ferroptosis induced by cisplatin. (PMID:37144519)
• Prognostic and immunological role of FDX1 in pan-cancer: an in-silico analysis. (PMID:37193786)
• Integrated analyses reveal the prognostic, immunological features and mechanisms of cuproptosis critical mediator gene FDX1 in KIRC. (PMID:37430022)
• FDX1 regulates cellular protein lipoylation through direct binding to LIAS. (PMID:37453661)
• Lipoylation is dependent on the ferredoxin FDX1 and dispensable under hypoxia in human cells. (PMID:37481209)
• Interactions of human mitochondrial Ferredoxin 1 (Adrenodoxin) by NMR; modulation by cytochrome P450 substrate and by truncation of the C-terminal tail. (PMID:37734220)
• Systematic analysis based on the cuproptosis-related genes identifies ferredoxin 1 as an immune regulator and therapeutic target for glioblastoma. (PMID:38114959)
• METTL3 promotes non-small-cell lung cancer growth and metastasis by inhibiting FDX1 through copper death-associated pri-miR-21-5p maturation. (PMID:38126112)
• Ferredoxin 1: a gatekeeper in halting lung adenocarcinoma progression through activation of the GPRIN2 signaling pathway. (PMID:38802900)
• FDX1 downregulation activates mitophagy and the PI3K/AKT signaling pathway to promote hepatocellular carcinoma progression by inducing ROS production. (PMID:39128228)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fdx1	ENSMUSG00000032051
rattus_norvegicus	Fdx1	ENSRNOG00000012123

Paralogs (1): FDX2 (ENSG00000267673)

Protein

Protein identifiers

Adrenodoxin, mitochondrial — P10109 (reviewed: P10109)

Alternative names: Adrenal ferredoxin, Ferredoxin-1, Hepatoredoxin

All UniProt accessions (1): P10109

UniProt curated annotations — full annotation on UniProt →

Function. Essential for the synthesis of various steroid hormones. Participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis. Transfers electrons from adrenodoxin reductase to CYP11A1, a cytochrome P450 that catalyzes cholesterol side-chain cleavage. Does not form a ternary complex with adrenodoxin reductase and CYP11A1 but shuttles between the two enzymes to transfer electrons.

Subunit / interactions. Interacts with CYP11A1.

Subcellular location. Mitochondrion matrix.

Tissue specificity. Highest levels in the adrenal gland (at protein level). Also detected in kidney and testis (at protein level).

Cofactor. Binds 1 [2Fe-2S] cluster.

Similarity. Belongs to the adrenodoxin/putidaredoxin family.

RefSeq proteins (1): NP_004100* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001041	2Fe-2S_ferredoxin-type	Domain
IPR001055	Adrenodoxin-like	Family
IPR012675	Beta-grasp_dom_sf	Homologous_superfamily
IPR018298	Adrenodoxin_Fe-S_BS	Binding_site
IPR036010	2Fe-2S_ferredoxin-like_sf	Homologous_superfamily

Pfam: PF00111

UniProt features (28 total): strand 7, helix 6, modified residue 5, binding site 4, transit peptide 1, chain 1, turn 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
3N9Y	X-RAY DIFFRACTION	2.1
3N9Z	X-RAY DIFFRACTION	2.17
3NA1	X-RAY DIFFRACTION	2.25
3NA0	X-RAY DIFFRACTION	2.5
3P1M	X-RAY DIFFRACTION	2.54
7M8I	X-RAY DIFFRACTION	2.94

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10109-F1	78.62	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 106; 112; 115; 152

Post-translational modifications (5): 66, 66, 158, 177, 63

Function

Pathways and Gene Ontology

Reactome pathways

18 pathways

ID	Pathway
R-HSA-1362409	Mitochondrial iron-sulfur cluster biogenesis
R-HSA-196108	Pregnenolone biosynthesis
R-HSA-211976	Endogenous sterols
R-HSA-2395516	Electron transport from NADPH to Ferredoxin
R-HSA-5579026	Defective CYP11A1 causes AICSR
R-HSA-9857492	Protein lipoylation
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-196071	Metabolism of steroid hormones
R-HSA-211859	Biological oxidations
R-HSA-211897	Cytochrome P450 - arranged by substrate type
R-HSA-211945	Phase I - Functionalization of compounds
R-HSA-392499	Metabolism of proteins
R-HSA-556833	Metabolism of lipids
R-HSA-5579029	Metabolic disorders of biological oxidation enzymes
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 180 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_CELLULAR_RESPONSE_TO_LIPID, chr11q22, GOBP_REGULATION_OF_HORMONE_LEVELS, REACTOME_ENDOGENOUS_STEROLS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, UEDA_PERIFERAL_CLOCK, WANG_LMO4_TARGETS_DN, GOBP_RESPONSE_TO_KETONE, GOBP_RESPONSE_TO_CAMP, GOBP_CELLULAR_RESPONSE_TO_CAMP, GOBP_HORMONE_BIOSYNTHETIC_PROCESS

GO Biological Process (9): steroid biosynthetic process (GO:0006694), cholesterol metabolic process (GO:0008203), electron transport chain (GO:0022900), hormone biosynthetic process (GO:0042446), cellular response to cAMP (GO:0071320), P450-containing electron transport chain (GO:0140647), cellular response to forskolin (GO:1904322), lipid metabolic process (GO:0006629), steroid metabolic process (GO:0008202)

GO Molecular Function (5): iron ion binding (GO:0005506), electron transfer activity (GO:0009055), 2 iron, 2 sulfur cluster binding (GO:0051537), metal ion binding (GO:0046872), iron-sulfur cluster binding (GO:0051536)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Metabolism	3
Metabolism of steroid hormones	1
Cytochrome P450 - arranged by substrate type	1
Mitochondrial iron-sulfur cluster biogenesis	1
Metabolic disorders of biological oxidation enzymes	1
Post-translational protein modification	1
Metabolism of steroids	1
Phase I - Functionalization of compounds	1
Biological oxidations	1
Diseases of metabolism	1
Disease	1
Metabolism of proteins	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
steroid metabolic process	1
lipid biosynthetic process	1
sterol metabolic process	1
secondary alcohol metabolic process	1
generation of precursor metabolites and energy	1
biosynthetic process	1
hormone metabolic process	1
response to cAMP	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
electron transport chain	1
cellular response to lipid	1
cellular response to alcohol	1
cellular response to ketone	1
response to forskolin	1
primary metabolic process	1
lipid metabolic process	1
transition metal ion binding	1
molecular_function	1
iron-sulfur cluster binding	1
cation binding	1
metal cluster binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2451 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FDX1	FDXR	P22570	999
FDX1	CYP11A1	P05108	995
FDX1	CYCS	P00001	979
FDX1	SCP2	P22307	900
FDX1	STAR	P49675	891
FDX1	CYP27A1	Q02318	870
FDX1	ISCU	Q9H1K1	853
FDX1	FXN	Q16595	824
FDX1	CYP11B2	P19099	812
FDX1	CYP11B1	P15538	808
FDX1	NFS1	Q9Y697	760
FDX1	LYRM4	Q9HD34	742
FDX1	PPIG	Q13427	738
FDX1	NFU1	Q9UMS0	735
FDX1	CYP2B6	P20813	734

IntAct

13 interactions, top by confidence:

A	B	Type	Score
FDX1	NR4A2	psi-mi:“MI:0915”(physical association)	0.400
Cdc26	PEX10	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
GPATCH8	FDX1	psi-mi:“MI:0914”(association)	0.350
Prdx1	TRIO	psi-mi:“MI:0914”(association)	0.350
CAPZA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
HIF1A	PIAS1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
KSR1	FBLL1	psi-mi:“MI:0914”(association)	0.350
NME4	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
CLPP	NDUFA4	psi-mi:“MI:2364”(proximity)	0.270
FYN	FDX1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (47): FDX1L (Co-fractionation), ATP5B (Co-fractionation), ATP5A1 (Co-fractionation), FDX1 (Affinity Capture-MS), FDX1 (Affinity Capture-MS), FDX1 (Affinity Capture-MS), FDX1 (Affinity Capture-MS), FDX1 (Affinity Capture-MS), FDX1 (Affinity Capture-MS), FDX1 (Co-fractionation), GCSH (Co-fractionation), FDX1 (Co-fractionation), TPI1 (Co-fractionation), NUDT9 (Co-fractionation), FDX1L (Co-fractionation)

ESM2 similar proteins: A1A4J8, A6H784, D3ZS74, D4A6D7, E9QBI7, O42899, O43819, O60341, O75880, P00258, P10109, P23833, P24483, P30048, P38072, Q05B51, Q0VCH8, Q12931, Q2KHU5, Q2NKY8, Q2TBI4, Q3ULF4, Q4VAE3, Q5EA41, Q5REY3, Q5RH02, Q5SUC9, Q69ZP3, Q6DKK2, Q6PI78, Q6ZQ88, Q7ZUC7, Q8BMS4, Q8JZQ2, Q8LAL0, Q8N490, Q8VCL2, Q920A7, Q95N00, Q96HS1

Diamond homologs: D5IGG4, G2IN77, P00257, P00258, P00259, P0A9R4, P0A9R5, P0A9R6, P10109, P13216, P24483, P29330, P33007, P37098, P37193, P43493, P46656, P80306, Q05B51, Q08C57, Q12184, Q1RJ69, Q4UKL2, Q51383, Q5FWQ0, Q5S3I4, Q6P4F2, Q8SZA8, Q92J08, Q9AKC4, Q9AKH1, Q9AKM6, Q9CPW2, Q9ZDW6, W8X5L3, X5CFH4, X5CWH9, O51882, P44428, P57661

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

33 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	25
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	Pathogenic

SpliceAI

786 predictions. Top by Δscore:

Variant	Effect	Δscore
11:110435829:TCCA:T	acceptor_loss	1.0000
11:110435830:CCA:C	acceptor_loss	1.0000
11:110435832:A:AG	acceptor_gain	1.0000
11:110435833:G:GA	acceptor_gain	1.0000
11:110435833:GC:G	acceptor_gain	1.0000
11:110435833:GCTCA:G	acceptor_gain	1.0000
11:110435954:CTTTG:C	donor_gain	1.0000
11:110435956:TTG:T	donor_gain	1.0000
11:110435956:TTGG:T	donor_loss	1.0000
11:110435957:TG:T	donor_gain	1.0000
11:110435958:GG:G	donor_gain	1.0000
11:110435959:G:GG	donor_gain	1.0000
11:110435959:GT:G	donor_loss	1.0000
11:110435960:T:A	donor_loss	1.0000
11:110435963:G:GG	donor_gain	1.0000
11:110457043:GACAG:G	donor_gain	1.0000
11:110457044:ACAGG:A	donor_loss	1.0000
11:110457046:AGG:A	donor_loss	1.0000
11:110457047:GGT:G	donor_loss	1.0000
11:110457049:T:A	donor_loss	1.0000
11:110462352:A:AG	acceptor_gain	1.0000
11:110462353:G:GG	acceptor_gain	1.0000
11:110430301:AGCAG:A	donor_loss	0.9900
11:110430303:CAGGT:C	donor_loss	0.9900
11:110430304:AG:A	donor_loss	0.9900
11:110430305:GG:G	donor_loss	0.9900
11:110430306:GTAGG:G	donor_loss	0.9900
11:110430307:T:G	donor_loss	0.9900
11:110435833:GCT:G	acceptor_gain	0.9900
11:110435833:GCTC:G	acceptor_gain	0.9900

AlphaMissense

1175 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:110456924:G:A	C106Y	0.999
11:110456941:T:C	C112R	0.999
11:110456950:T:C	C115R	0.999
11:110456951:G:A	C115Y	0.999
11:110456953:C:G	H116D	0.999
11:110456957:T:C	L117P	0.999
11:110462362:T:C	L150S	0.999
11:110462407:T:A	V165D	0.999
11:110435854:T:A	V69D	0.998
11:110435860:T:C	F71S	0.998
11:110456918:G:A	G104D	0.998
11:110456923:T:A	C106S	0.998
11:110456923:T:C	C106R	0.998
11:110456924:G:C	C106S	0.998
11:110456942:G:A	C112Y	0.998
11:110457008:A:T	E134V	0.998
11:110457020:T:A	L138H	0.998
11:110457020:T:C	L138P	0.998
11:110462364:G:C	G151R	0.998
11:110462365:G:A	G151D	0.998
11:110462367:T:A	C152S	0.998
11:110462367:T:C	C152R	0.998
11:110462368:G:C	C152S	0.998
11:110456924:G:T	C106F	0.997
11:110456941:T:A	C112S	0.997
11:110456942:G:C	C112S	0.997
11:110456943:T:G	C112W	0.997
11:110456950:T:A	C115S	0.997
11:110456951:G:C	C115S	0.997
11:110456951:G:T	C115F	0.997

dbSNP variants (sampled 300 via entrez): RS1000172871 (11:110431492 G>T), RS1000207027 (11:110441830 C>T), RS1000229516 (11:110437281 A>G), RS1000278190 (11:110449367 A>G,T), RS1000439221 (11:110442703 T>C), RS1000512300 (11:110440641 A>T), RS1000612523 (11:110447486 T>G), RS1000645138 (11:110447066 T>C,G), RS1000758763 (11:110453819 A>G), RS1000802034 (11:110461537 T>A,C), RS1000802830 (11:110441803 A>G), RS1000879616 (11:110460065 C>A), RS1000910679 (11:110459791 C>G), RS1000912910 (11:110430304 A>G), RS1000929498 (11:110447974 A>C,G,T)

Disease associations

OMIM: gene MIM:103260 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002386_25	Cognitive function	7.000000e-06
GCST010479_22	Coronary artery disease	9.000000e-10
GCST010480_10	Coronary artery disease	4.000000e-08
GCST012020_138	Serum metabolite levels	5.000000e-15
GCST012020_437	Serum metabolite levels	8.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003925	cognition

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	3
Valproic Acid	affects expression, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	2
Cisplatin	affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
arsenite	affects binding, increases reaction	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	decreases expression	1
gossypol acetic acid	decreases expression	1
cupric chloride	affects cotreatment, decreases degradation	1
demethoxycurcumin	decreases expression, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	decreases expression	1
elesclomol	affects cotreatment, decreases degradation	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
jinfukang	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Acetaminophen	affects cotreatment, decreases expression	1
Acetylcysteine	decreases expression, decreases reaction	1
Air Pollutants	decreases expression, increases abundance	1
Diethylstilbestrol	increases expression	1
Diuron	decreases expression	1
Lead	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5QA	COS-F2-130	Transformed cell line	Male
CVCL_D1MH	Abcam K-562 FDX1 KO	Cancer cell line	Female
CVCL_D2J2	Abcam Raji FDX1 KO	Cancer cell line	Male
CVCL_UQ49	Abcam Jurkat FDX1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.