FTMT

ferritin mitochondrial, the group of Ferritin subunits

Basic information

Region (hg38): 5:121851882-121852833

Links

ENSG00000181867 ∙ NCBI:94033 ∙ OMIM:608847 ∙ HGNC:17345 ∙ Uniprot:Q8N4E7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FTMT gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FTMT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000177478.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			42	2		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FTMT	protein_coding	protein_coding	ENST00000321339	1	870

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00561	0.736	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0415	163	162	1.01	0.0000113	1555
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: Ferroptosis - Homo sapiens (human);Hereditary Coproporphyria (HCP);Porphyria Variegata (PV);Congenital Erythropoietic Porphyria (CEP) or Gunther Disease;Acute Intermittent Porphyria;Porphyrin Metabolism;Transport of small molecules;Methionine and cysteine metabolism;Iron uptake and transport (Consensus)

Recessive Scores

• pRec: 0.205

Intolerance Scores

• loftool: 0.347
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

• pHI: 0.0630
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0502

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ftmt
• Phenotype: normal phenotype

Gene ontology

• 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;oxidation-reduction process;positive regulation of succinate dehydrogenase activity;positive regulation of aconitate hydratase activity
• Cellular component: nucleus;cytoplasm;mitochondrial matrix
• Molecular function: ferroxidase activity;iron ion binding;ferrous iron binding;ferric iron binding;identical protein binding