FTMT

Summary

FTMT (ferritin mitochondrial, HGNC:17345) is a protein-coding gene on chromosome 5q23.1, encoding Ferritin, mitochondrial (Q8N4E7). Catalyzes the oxidation of ferrous iron(II) to ferric iron(III) and stores iron in a soluble, non-toxic, readily available form.

Enables ferroxidase activity and iron ion binding activity. Involved in several processes, including intracellular iron ion homeostasis; positive regulation of aconitate hydratase activity; and positive regulation of succinate dehydrogenase activity. Located in mitochondrion.

Source: NCBI Gene 94033 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 58 total — 1 likely-pathogenic
• MANE Select transcript: NM_177478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17345
Approved symbol	FTMT
Name	ferritin mitochondrial
Location	5q23.1
Locus type	gene with protein product
Status	Approved
Aliases	MtF
Ensembl gene	ENSG00000181867
Ensembl biotype	protein_coding
OMIM	608847
Entrez	94033

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000321339

RefSeq mRNA: 1 — MANE Select: NM_177478 NM_177478

CCDS: CCDS4128

Canonical transcript exons

ENST00000321339 — 1 exons

Exon	Start	End
ENSE00001262353	121851882	121852833

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 91.53.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1904 / max 193.0644, expressed in 3 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58185	0.1072	3
58187	0.0579	3
58186	0.0140	3
58184	0.0065	3
58188	0.0047	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.53	gold quality
left testis	UBERON:0004533	90.73	gold quality
testis	UBERON:0000473	90.01	gold quality
right testis	UBERON:0004534	89.77	gold quality
thymus	UBERON:0002370	65.65	silver quality
quadriceps femoris	UBERON:0001377	61.63	gold quality
cerebellar vermis	UBERON:0004720	58.50	gold quality
cortical plate	UBERON:0005343	40.68	silver quality
stromal cell of endometrium	CL:0002255	39.95	gold quality
lower esophagus mucosa	UBERON:0035834	38.99	gold quality
sural nerve	UBERON:0015488	38.03	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	35.75	gold quality
skeletal muscle tissue	UBERON:0001134	35.53	gold quality
muscle tissue	UBERON:0002385	32.68	gold quality
bone marrow	UBERON:0002371	32.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
ectocervix	UBERON:0012249	31.32	gold quality
liver	UBERON:0002107	30.19	gold quality
uterine cervix	UBERON:0000002	30.13	gold quality
muscle of leg	UBERON:0001383	29.82	gold quality
monocyte	CL:0000576	29.58	gold quality
prefrontal cortex	UBERON:0000451	29.57	gold quality
gastrocnemius	UBERON:0001388	29.53	gold quality
leukocyte	CL:0000738	29.40	gold quality
urinary bladder	UBERON:0001255	29.13	gold quality
lymph node	UBERON:0000029	28.92	gold quality
left adrenal gland cortex	UBERON:0035825	28.60	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ATF1, DIDO1, FOXC1, JUND, KLF1, NFE2L2, NFKB1, NFKB, SP1

miRNA regulators (miRDB)

23 targeting FTMT, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-34B-3P	98.70	67.40	1171
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-6892-5P	97.27	68.60	847
HSA-MIR-6515-5P	97.08	65.48	1219

Literature-anchored findings (GeneRIF, showing 35)

• Human mitochondrial ferritin expressed in HeLa cells incorporates iron and affects cellular iron metabolism (PMID:11953424)
• RT-PCR studies showed MtF mRNA in circulating reticulocytes of 2 X-linked sideroblastic anemia patients but not controls. Most of the iron in perinuclear mitochondria of ring sideroblasts is in the form of MtF, a specific marker of sideroblastic anemia. (PMID:12406866)
• In contrast to previously published literature, this study demonstrates that the putative nucleation site does not play an important role in iron uptake or mineralization in H-chain ferritin. (PMID:15065877)
• Data reveal striking differences in iron oxidation and hydrolysis chemistry between human mitochondrial ferritin and human H-chain ferritin despite their similar diiron ferroxidase centers. (PMID:15755449)
• ferritin H not only responds to changes in tissue iron (its classic role), but can actively regulate overall tissue iron balance (PMID:16448386)
• These results suggest that hemin activates the transcription of the ferritin H gene during K562 erythroid differentiation by Ref-1-mediated activation of these b-zip transcription factors to the Antioxidant-responsive Elements. (PMID:16537925)
• functional analysis of an H ferritin promoter allele carrying a G to T substitution adjacent to the Bbf binding site, in position -69 (PMID:16797877)
• Demonstrated iron uptake by ferritins into multiple organs. Uptake is greater when iron delivered by H-ferritin compared to L-ferritin. (PMID:17459943)
• PIAS3 is a new regulator of ATF1 that regulates the ARE-mediated transcription of the ferritin H gene (PMID:17565989)
• ionomycin-mediated induction of ferritin H may occur in an NFAT-independent manner but through post-transcriptional stabilization of the ferritin H mRNA. (PMID:18076382)
• Frataxin has some roles in controlling the balance between different mitochondrial iron pools that are partially in common with those of mitochondrial ferritin. (PMID:18160053)
• ferritin H transcription is activated by rotenone via an oxidative stress-mediated pathway leading to antioxidant-responsive element activation (PMID:18325346)
• p53 overexpression strongly downregulates the transcriptional efficiency driven by an H ferritin promoter construct containing only the NF-Y recognition sequence. (PMID:18372207)
• ferritin pore gating influences to the amount of iron (59Fe) in ferritin in vivo (PMID:18805796)
• FtMt expression in fibroblasts from Friedreich ataxia patients prevented the formation of reactive oxygen species and partially rescued the impaired activity of mitochondrial Fe-S enzymes. (PMID:18815198)
• Data present density functional theory optimizations of structures of dizinc(II) complexes with a model of the ferroxidase center of human H ferritin, and the results compared with the crystallographically determined structure of the complex. (PMID:19585161)
• Increased numbers of mitochondria in neurons in restless legs syndrome (RLS) and increased mitochondrial ferritin might contribute to insufficient cytosolic iron levels in RLS substantia nigra neurons. (PMID:19816198)
• MtF expression is downregulated during ATRA-induced K562 cell differentiation, with concomitant downregulation of TfR1 and upregulation of Fn. (PMID:20369475)
• Primary spontaneous pneumothorax in smokers is associated with lung macrophage oxidative stress. The response to this condition involves HIF-1alpha-mediated induction of HO-1, BVR and H-ferritin. (PMID:20526373)
• The analysis suggests that sequence variations in the coding region of FtMt are not involved in the development of myelodysplastic syndromes and Parkinson’s disease. (PMID:20939738)
• higher protein levels in prostate cancer cells expressing a dominant negative mutant of p66Shc (PMID:21616139)
• Stat5-dependent transcriptional regulation is displaced by strong cytosolic iron starvation status induced by mitochondrial ferritin. (PMID:21712541)
• MtF is involved in the pathology of Alzheimer’s disease and may play a neuroprotective role against oxidative stress (PMID:21799823)
• FtMt mutation may determine a condition similar to haploinsufficiency resulting in a reduced protection from iron-dependent oxidative stress in mitochondria (PMID:22706241)
• experimental overexpression of FTMT may modify mitochondrial iron availability and lead to ineffective erythropoiesis (PMID:23573868)
• Study characterized a new human FtMt antibody, and with it created the first map of FtMt immunoreactivity in a monkey brainstem. This showed the widespread distribution of FtMt in various brainstem regions and co-localization with catecholaminergic neurons. (PMID:27133573)
• Age-related increase is found in FtMt and hypoxia-inducible factor-1a (HIF-1a) in murine retinal pigment epithelium (RPE).HIF-1alpha stabilization reduced the protein level of the mature, functional form of mitochondrial ferritin. (PMID:27599360)
• The expression of FTMT appears regulated by a complex mechanism involving epigenetic events and interplay between transcription factors. (PMID:27625068)
• These results suggest that the elevation of expression levels of FTMT in the reticulocytes of patients with alpha-thalassaemia may be associated with iron loading and oxidative stress. (PMID:29993346)
• Via activation of cAMP/PKA/CREB pathway and upregulation of the downstream FtMt expression. (PMID:30069985)
• Effects of FTMT Expression by Retinal Pigment Epithelial Cells on Features of Angiogenesis. (PMID:32455741)
• FtMt promotes glioma tumorigenesis and angiogenesis via lncRNA SNHG1/miR-9-5p axis. (PMID:32858123)
• Mitochondrial Ferritin Deficiency Promotes Osteoblastic Ferroptosis Via Mitophagy in Type 2 Diabetic Osteoporosis. (PMID:33594527)
• LC3/FtMt Colocalization Patterns Reveal the Progression of FtMt Accumulation in Nigral Neurons of Patients with Progressive Supranuclear Palsy. (PMID:35008961)
• FtMt reduces oxidative stress-induced trophoblast cell dysfunction via the HIF-1alpha/VEGF signaling pathway. (PMID:36859279)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:56095	ENSDARG00000018461
danio_rerio	zgc:172145	ENSDARG00000045586
mus_musculus	Ftmt	ENSMUSG00000024510
rattus_norvegicus	Ftmt	ENSRNOG00000014988
drosophila_melanogaster	Fer3HCH	FBGN0030449
caenorhabditis_elegans		WBGENE00001500
caenorhabditis_elegans	ftn-2	WBGENE00001501

Paralogs (3): FTL (ENSG00000087086), FTHL17 (ENSG00000132446), FTH1 (ENSG00000167996)

Protein

Protein identifiers

Ferritin, mitochondrial — Q8N4E7 (reviewed: Q8N4E7)

All UniProt accessions (1): Q8N4E7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the oxidation of ferrous iron(II) to ferric iron(III) and stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.

Subunit / interactions. Homooligomer of 24 subunits. The functional molecule is roughly spherical and contains a central cavity into which the polymeric mineral iron core is deposited.

Subcellular location. Mitochondrion.

Tissue specificity. Detected in testis and erythroleukemia. Expression is very low or not detectable in brain, colon, heart, kidney, liver, lung, muscle, placental, spleen and small intestine.

Similarity. Belongs to the ferritin family.

RefSeq proteins (1): NP_803431* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001519	Ferritin	Family
IPR008331	Ferritin_DPS_dom	Domain
IPR009040	Ferritin-like_diiron	Domain
IPR009078	Ferritin-like_SF	Homologous_superfamily
IPR012347	Ferritin-like	Homologous_superfamily
IPR014034	Ferritin_CS	Conserved_site

Pfam: PF00210

Catalyzed reactions (Rhea), 1 shown:

• 4 Fe(2+) + O2 + 4 H(+) = 4 Fe(3+) + 2 H2O (RHEA:11148)

UniProt features (21 total): binding site 6, helix 6, turn 3, transit peptide 1, chain 1, mutagenesis site 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

24 structures.

PDB	Method	Resolution (Å)
7O63	X-RAY DIFFRACTION	1.16
7O6C	X-RAY DIFFRACTION	1.2
7O69	X-RAY DIFFRACTION	1.35
9EQB	X-RAY DIFFRACTION	1.36
7O6A	X-RAY DIFFRACTION	1.4
7O6D	X-RAY DIFFRACTION	1.47
9EQ8	X-RAY DIFFRACTION	1.48
7OWY	X-RAY DIFFRACTION	1.55
7O66	X-RAY DIFFRACTION	1.6
9I1D	X-RAY DIFFRACTION	1.65
7O68	X-RAY DIFFRACTION	1.68
1R03	X-RAY DIFFRACTION	1.7
7O65	X-RAY DIFFRACTION	1.7
9HYC	X-RAY DIFFRACTION	1.71
9I1F	X-RAY DIFFRACTION	1.72
9I1A	X-RAY DIFFRACTION	1.73
9EQ9	X-RAY DIFFRACTION	1.84
7O67	X-RAY DIFFRACTION	1.86
5Z8U	X-RAY DIFFRACTION	1.9
7O64	X-RAY DIFFRACTION	1.96
9EQA	X-RAY DIFFRACTION	1.97
5Z8S	X-RAY DIFFRACTION	1.97
5Z8J	X-RAY DIFFRACTION	2.3
5Z91	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N4E7-F1	84.29	0.72

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 (6): 201; 87; 122; 122; 125; 167

Mutagenesis-validated functional residues (1):

Position	Phenotype
204	increases ferroxidase activity and iron binding.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-917937	Iron uptake and transport

MSigDB gene sets: 66 (showing top): GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, CAFFAREL_RESPONSE_TO_THC_UP, GOBP_IRON_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_PROTEIN_MATURATION, GOBP_MONOATOMIC_ION_HOMEOSTASIS, WEBER_METHYLATED_HCP_IN_SPERM_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, CAFFAREL_RESPONSE_TO_THC_24HR_5_DN, GOCC_MITOCHONDRIAL_MATRIX, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_METAL_IONS

GO Biological Process (3): iron ion transport (GO:0006826), intracellular iron ion homeostasis (GO:0006879), protein maturation (GO:0051604)

GO Molecular Function (6): ferroxidase activity (GO:0004322), iron ion binding (GO:0005506), ferrous iron binding (GO:0008198), ferric iron binding (GO:0008199), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
iron ion binding	2
intracellular membrane-bounded organelle	2
transition metal ion transport	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
gene expression	1
protein metabolic process	1
oxidoreductase activity, acting on metal ions, oxygen as acceptor	1
transition metal ion binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

706 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FTMT	FXN	Q16595	848
FTMT	ACO1	P21399	751
FTMT	ACO2	Q99798	686
FTMT	FECH	P22830	641
FTMT	AFG3L2	Q9Y4W6	551
FTMT	ATP5MG	O75964	546
FTMT	HSPA9	P30036	534
FTMT	CCDC201	A0A1B0GTI1	528
FTMT	ISCU	Q9H1K1	521
FTMT	LYRM4	Q9HD34	521
FTMT	ATAD3A	Q9NVI7	515
FTMT	NCOA4	Q13772	512
FTMT	F5H3C5	F5H3C5	507
FTMT	SOD2	P04179	507
FTMT	SDHA	P31040	505

IntAct

0 interactions, top by confidence:

BioGRID (1): FTMT (Affinity Capture-MS)

ESM2 similar proteins: O46119, O46414, O46415, P02791, P02792, P02793, P02794, P07229, P07797, P07798, P08267, P09451, P09528, P0A999, P0A9A1, P17663, P18685, P19130, P19132, P19133, P25319, P25320, P25915, P29389, P29391, P42577, P49946, P49947, P49948, P80145, P85835, P85836, P85837, P85838, P85839, Q26061, Q2MHN1, Q2MHN2, Q2YDI9, Q53VB8

Diamond homologs: A0A7E5WTY7, A0R647, I4DJ24, O46119, O46414, O65100, P02794, P07229, P07797, P07798, P08267, P09528, P17663, P18685, P19130, P19132, P19976, P25319, P25320, P25699, P25915, P29036, P29389, P29390, P41822, P42577, P42578, P49946, P49947, P49948, P80145, P85835, P85836, P85837, P85838, P85839, Q26061, Q2MHN2, Q2YDI9, Q5R8J7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	54
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2685169	GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1	Likely pathogenic

SpliceAI

227 predictions. Top by Δscore:

Variant	Effect	Δscore
5:121852316:A:AG	acceptor_gain	0.6300
5:121852317:G:GG	acceptor_gain	0.6300
5:121852236:C:CG	donor_gain	0.6200
5:121852414:G:GT	donor_gain	0.5800
5:121852511:A:G	donor_gain	0.5700
5:121852301:GGT:G	acceptor_gain	0.5500
5:121852301:GGTAT:G	acceptor_gain	0.5500
5:121852424:A:T	donor_gain	0.5500
5:121852467:GAAC:G	donor_gain	0.5500
5:121852423:G:T	donor_gain	0.5400
5:121852489:G:GT	donor_gain	0.5400
5:121852233:GTCC:G	donor_gain	0.5200
5:121852234:TCCT:T	donor_gain	0.5200
5:121852298:CCAGG:C	acceptor_gain	0.5200
5:121852300:A:AG	acceptor_gain	0.5200
5:121852301:G:GG	acceptor_gain	0.5200
5:121852423:G:GT	donor_gain	0.5200
5:121852468:A:T	donor_gain	0.5200
5:121852299:CAG:C	acceptor_gain	0.5100
5:121852373:G:GT	donor_gain	0.5100
5:121852393:G:GT	donor_gain	0.5100
5:121852240:GT:G	donor_gain	0.5000
5:121852297:TCCAG:T	acceptor_gain	0.5000
5:121851994:C:T	donor_gain	0.4900
5:121852270:C:A	acceptor_gain	0.4900
5:121852300:AGGTA:A	acceptor_gain	0.4900
5:121852470:C:G	donor_gain	0.4900
5:121852296:CTCCA:C	acceptor_gain	0.4800
5:121852301:G:T	acceptor_gain	0.4800
5:121852297:TCCA:T	acceptor_loss	0.4700

AlphaMissense

1577 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:121852318:T:C	S119P	0.992
5:121852464:A:C	E167D	0.991
5:121852464:A:T	E167D	0.991
5:121852264:T:C	F101L	0.990
5:121852266:C:A	F101L	0.990
5:121852266:C:G	F101L	0.990
5:121852339:G:C	A126P	0.988
5:121852340:C:A	A126E	0.985
5:121852370:G:C	R136P	0.985
5:121852451:C:A	A163D	0.985
5:121852484:T:C	L174S	0.985
5:121852651:T:C	F230L	0.985
5:121852653:T:A	F230L	0.985
5:121852653:T:G	F230L	0.985
5:121852234:T:C	S91P	0.984
5:121852224:G:C	E87D	0.983
5:121852224:G:T	E87D	0.983
5:121852255:G:C	A98P	0.983
5:121852373:G:A	G137E	0.983
5:121852226:T:C	L88P	0.982
5:121852450:G:C	A163P	0.982
5:121852505:C:A	A181D	0.982
5:121852520:A:G	D186G	0.982
5:121852607:T:C	L215S	0.982
5:121852422:G:C	W153C	0.981
5:121852422:G:T	W153C	0.981
5:121852580:A:T	K206I	0.981
5:121852439:C:A	A159D	0.980
5:121852206:C:A	N81K	0.978
5:121852206:C:G	N81K	0.978

dbSNP variants (sampled 300 via entrez): RS1001153855 (5:121851175 C>G), RS1001163562 (5:121850958 T>C), RS1001617936 (5:121852373 G>A), RS1003171676 (5:121851026 T>C,G), RS1003506334 (5:121851999 C>T), RS1003697212 (5:121851325 CTCATT>C), RS1004942002 (5:121852701 C>A,G), RS1005035219 (5:121852498 G>A), RS1006246346 (5:121853049 T>C), RS1007006591 (5:121850463 G>A,C), RS1007059219 (5:121850112 A>G), RS1007879402 (5:121851650 C>T), RS1007953403 (5:121851696 C>G), RS1008048403 (5:121851465 T>C), RS1009356046 (5:121852118 C>T)

Disease associations

OMIM: gene MIM:608847 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002104_14	Bronchopulmonary dysplasia	4.000000e-06
GCST002554_1	Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction)	2.000000e-08
GCST002575_1	Body mass index (change over time)	4.000000e-07
GCST002701_32	Verbal declarative memory	9.000000e-07
GCST003075_121	Cognitive decline rate in late mild cognitive impairment	9.000000e-07
GCST003075_122	Cognitive decline rate in late mild cognitive impairment	2.000000e-06
GCST003075_29	Cognitive decline rate in late mild cognitive impairment	2.000000e-08
GCST007096_124	Pulse pressure	9.000000e-09
GCST007097_81	Pulse pressure	4.000000e-06
GCST007097_82	Pulse pressure	4.000000e-06
GCST007099_167	Systolic blood pressure	2.000000e-06
GCST010172_7	Idiopathic downbeat nystagmus	9.000000e-06

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0006793	left inferior lateral ventricle volume measurement
EFO:0005937	longitudinal BMI measurement
EFO:0004874	memory performance
EFO:0006805	word list delayed recall measurement
EFO:0007710	cognitive decline measurement
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Iron	increases abundance, affects binding, decreases reaction, increases reaction, decreases expression	2
titanium dioxide	increases expression	1
sodium arsenite	increases expression	1
diallyl trisulfide	increases abundance, affects reaction, decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-pyridylcarboxaldehyde isonicotinoylhydrazone	affects binding, decreases reaction, increases reaction	1
Rosiglitazone	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Deferoxamine	affects binding, decreases reaction, increases reaction	1
Doxorubicin	decreases reaction, increases reaction, affects binding	1
Endosulfan	increases expression	1
Paraquat	affects binding, increases reaction	1
Plant Extracts	decreases expression, affects cotreatment	1
Razoxane	affects binding, decreases reaction	1
Dronabinol	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Vitamin K 3	affects binding, increases reaction	1

Clinical trials (associated diseases)

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