MTIF2

mitochondrial translational initiation factor 2

Basic information

Region (hg38): 2:55236595-55269347

Links

ENSG00000085760 ∙ NCBI:4528 ∙ OMIM:603766 ∙ HGNC:7441 ∙ Uniprot:P46199 ∙ 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 MTIF2 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTIF2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense	1		39	2		42
nonsense						0
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	2	0	39	3	0

Variants in MTIF2

This is a list of pathogenic ClinVar variants found in the MTIF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-55236709-C-T		not specified	Uncertain significance (Oct 26, 2021)
2-55236741-A-T		not specified	Uncertain significance (Jul 14, 2021)
2-55236762-C-T		not specified	Uncertain significance (May 25, 2022)
2-55237375-G-T		not specified	Uncertain significance (Dec 21, 2023)
2-55240019-T-C		not specified	Uncertain significance (May 22, 2023)
2-55240079-C-T		not specified	Likely benign (Dec 18, 2023)
2-55240080-G-A		not specified	Uncertain significance (Sep 30, 2021)
2-55240084-A-C		not specified	Uncertain significance (Oct 03, 2023)
2-55240104-T-C		not specified	Uncertain significance (May 17, 2023)
2-55242964-C-G		not specified	Uncertain significance (Oct 22, 2021)
2-55243018-C-G		not specified	Uncertain significance (Jun 11, 2024)
2-55243502-C-A		not specified	Uncertain significance (Jun 10, 2024)
2-55243502-C-T		not specified	Uncertain significance (Mar 14, 2023)
2-55243526-A-G		not specified	Uncertain significance (Dec 20, 2022)
2-55243541-T-A		not specified	Uncertain significance (Feb 23, 2023)
2-55243547-C-T		not specified	Uncertain significance (Nov 07, 2022)
2-55243565-T-G		not specified	Uncertain significance (Jul 09, 2021)
2-55243586-T-C		not specified	Uncertain significance (Jun 06, 2023)
2-55243591-T-C		not specified	Uncertain significance (Mar 06, 2023)
2-55244060-G-A		not specified	Uncertain significance (Nov 15, 2021)
2-55244118-C-T		not specified	Likely benign (Apr 01, 2024)
2-55244119-A-C		not specified	Uncertain significance (Jan 26, 2023)
2-55244150-C-T		not specified	Uncertain significance (Jan 27, 2022)
2-55244159-G-A		not specified	Uncertain significance (Sep 29, 2023)
2-55246382-G-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTIF2	protein_coding	protein_coding	ENST00000394600	13	32753

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.75e-10	0.983	125641	0	106	125747	0.000422

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.302	389	373	1.04	0.0000182	4732
Missense in Polyphen		112	126.94	0.8823		1642
Synonymous	-0.779	139	128	1.09	0.00000617	1387
Loss of Function	2.34	21	36.2	0.581	0.00000178	474

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000539	0.000539
Ashkenazi Jewish	0.000203	0.000198
East Asian	0.000826	0.000816
Finnish	0.000373	0.000370
European (Non-Finnish)	0.000516	0.000492
Middle Eastern	0.000826	0.000816
South Asian	0.000361	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex.
• Pathway: Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.197

Intolerance Scores

• loftool: 0.976
• rvis_EVS: -0.89
• rvis_percentile_EVS: 10.46

Haploinsufficiency Scores

• pHI: 0.261
• hipred: N
• hipred_score: 0.327
• ghis: 0.584

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.728

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtif2

Gene ontology

• Biological process: regulation of translational initiation;ribosome disassembly;mitochondrial translational initiation
• Cellular component: nucleoplasm;mitochondrion
• Molecular function: RNA binding;translation initiation factor activity;GTPase activity;GTP binding;translation factor activity, RNA binding;ribosomal small subunit binding