FTMT (ferritin mitochondrial)

Gene

• Entrez ID: 94033
• Gene name: Ferritin mitochondrial
• Gene symbol: FTMT
• Synonyms (NCBI Gene): MTF
• Chromosome: 5
• Chromosome location: 5q23.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1005689	hsa-miR-31	CLIP-seq
MIRT1005690	hsa-miR-3689d	CLIP-seq
MIRT1005691	hsa-miR-4477b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IDA	11323407, 15201052
GO:0004322	Function	Ferroxidase activity	IEA
GO:0005506	Function	Iron ion binding	IDA	15201052
GO:0005506	Function	Iron ion binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	11323407
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	11323407, 18160053
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008199	Function	Ferric iron binding	IBA
GO:0008199	Function	Ferric iron binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	IDA	18160053

Other IDs

• MIM: 608847
• HGNC: 17345
• e!Ensembl: ENSG00000181867

Protein

• UniProt ID: Q8N4E7
• Protein name: Ferritin, mitochondrial (EC 1.16.3.1)
• Protein function: Catalyzes the oxidation of ferrous iron(II) to ferric iron(III) and stores iron in a soluble, non-toxic, readily available form (PubMed:11323407, PubMed:15201052). Important for iron homeostasis (PubMed:11323407, PubMed:15201052). Iron is taken
• PDB: 1R03, 5Z8J, 5Z8S, 5Z8U, 5Z91, 7O63, 7O64, 7O65, 7O66, 7O67, 7O68, 7O69, 7O6A, 7O6C, 7O6D, 7OWY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00210	Ferritin	77 → 218	Ferritin-like domain	Domain

• Tissue specificity: 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. {ECO:0000269|PubMed:11323407}.
• Sequence:

  MLSCFRLLSRHISPSLASLRPVRCCFALPLRWAPGRPLDPRQIAPRRPLAAAASSRDPTG
  PAAGPSRVRQNFHPDSEAAINRQINLELYASYVYLSMAYYFSRDDVALNNFSRYFLHQSR
  EETEHAEKLMRLQNQRGGRIRLQDIKKPEQDDWESGLHAMECALLLEKNVNQSLLELHAL
  ASDKGDPHLCDFLETYYLNEQVKSIKELGDHVHNLVKMGAPDAGLAEYLFDTHTLGNENK
  QN

• Sequence length: 242

Pathways

KEGG:

Porphyrin metabolism
Ferroptosis

Reactome:

Iron uptake and transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	22706241, 27599360		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	29993346		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	29993346		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21799823	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19074058, 26255870		★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	12406866, 15755901, 23070040	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	12406866, 18160053	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	28656103		★☆☆☆☆ Found in Text Mining only
Eccrine dermal cylindroma	Cylindromatosis	BEFREE	15024746		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	29993346	Associate	★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	18815198, 27625068		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	LHGDN	18815198		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	18815198		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	23595973		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	15282205		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	37726294	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32455741	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27625068, 37726294	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	20939738		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15755901, 20939738		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	23573868	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25213357, 28887836, 29348829		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21799823, 25213357, 28840060		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21799823	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28840060		★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	20939738		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	32157568	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30069985	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20939738, 28163159		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28163159	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23595973		★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	12406866, 23070040		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	15755901, 26255870		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	21799823	Associate	★☆☆☆☆ Found in Text Mining only
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	BEFREE	31363743		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	12406866		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	LHGDN	12406866		★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	12406866		★☆☆☆☆ Found in Text Mining only