FTMT

protein-coding

ferritin mitochondrial, the group of Ferritin subunits

Gene summary

Enables ferroxidase activity and iron ion binding activity. Involved in intracellular iron ion homeostasis and protein maturation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_177478.2

Inheritance

—

ClinVar variants

U:50B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr5:121,851,882-121,852,833

External References & Databases

Ensembl (ENSG00000181867)

Transcript & Mutation Effects

hg38 • Region Span ~1.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FTMT variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 52

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_177478.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			50 clinvar	2 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	2	0	52

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_177478.2	RefSeq	NP_803431.1	1	MANE Select
ENST00000321339.3	Ensembl	ENSP00000313691.1	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Ferroptosis - Homo sapiens (human)
Hereditary Coproporphyria (HCP)
Porphyria Variegata (PV)
Congenital Erythropoietic Porphyria (CEP) or Gunther Disease
Acute Intermittent Porphyria

Biological Process

iron ion transport
cellular iron ion homeostasis
intracellular sequestering of iron ion
positive regulation of cell population proliferation
positive regulation of lyase activity

Molecular Function

ferroxidase activity
iron ion binding
ferrous iron binding
ferric iron binding
identical protein binding

Cellular Component

nucleus
cytoplasm
mitochondrial matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000321339
Coding exons: 1
Length: 870
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0415	163	162	1.01	0.0000113	1555
Missense (PolyPhen)		33	36.548	0.90292		393
Synonymous	-0.454	83	77.9	1.07	0.00000609	509
Loss of Function	0.803	4	6.15	0.651	3.46e-7	66

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. {ECO:0000269|PubMed:11323407, ECO:0000269|PubMed:15201052}.;

Recessive Scores

pRec: 0.205

Intolerance Scores

LoFtool: 0.347
RVIS EVS: 0.37
RVIS percentile EVS: 75.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0502

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium