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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MTIF2
mitochondrial translational initiation factor 2
Chromosome 2 Β· 2p16.1
NCBI Gene: 4528Ensembl: ENSG00000085760.16HGNC: HGNC:7441UniProt: P46199
53PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
translation initiation factor activityformation of translation preinitiation complexRNA bindingmitochondrionneurodegenerative diseasegenetic disorderbiliary tract diseasealcohol dependence
✦AI Summary

MTIF2 (mitochondrial translational initiation factor 2) is a nuclear-encoded protein that functions in mitochondria as an essential component of the translation initiation machinery 1. MTIF2 protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the mitoribosomal 28S subunit, facilitating the assembly of elongation-competent 55S mitoribosomes on leaderless mRNAs 2. The protein also catalyzes GTP hydrolysis during 70S ribosomal complex formation and remains indispensable for mitochondrial protein synthesis 3. Structurally, MTIF2 contains an insertion domain critical for stabilizing interactions with mitoribosomes and proper folding 4. MTIF2 plays a critical role in synthesizing OXPHOS complex subunits encoded by mitochondrial DNA. Reduced MTIF2 levels correlate with diminished complex I and IV content and impaired oxidative capacity in cardiomyocytes 5. Physical activity upregulates MTIF2 expression, linking this factor to exercise-induced improvements in mitochondrial function 6. In hepatocellular carcinoma, MTIF2 overexpression suppresses apoptosis and immunogenic cell death through interaction with AIFM1, suggesting potential roles in cancer metabolism and chemoresistance 7. The MTIF2 gene spans approximately 33.5 kb with 16 exons and contains regulatory elements for transcription factors including Sp1 and NRF-2 1.

Sources cited
1
MTIF2 is nuclear-encoded, functions in mitochondria to initiate translation, and its gene structure contains 16 exons with Sp1 and NRF-2 binding sites in the promoter region
PMID: 12932832
2
mtIF2 is loaded to the 28S subunit to promote formylmethionyl-tRNA binding and drive mRNA recognition via 5' start codon, enabling ribosomal subunit loading onto leaderless mitochondrial mRNAs
PMID: 40672251
3
mtIF2 is indispensable for mitochondrial protein synthesis and functions in translation initiation of leaderless and polycistronic mitochondrial transcripts
PMID: 36629253
4
The insertion domain of MTIF2 ortholog Mti2 is critical for proper folding and stabilizes interactions with mitoribosomal small subunits
PMID: 40427588
5
Reduced mtIF2 levels associate with lower OXPHOS complex I and IV content, diminished oxidative capacity, and impaired hypoxic resistance in cardiomyocytes
PMID: 30928679
6
Physical activity increases mtIF2 protein expression in skeletal muscle, with elevated levels in oxidative muscle fibers
PMID: 27061106
7
MTIF2 overexpression suppresses apoptosis and immunogenic cell death in hepatocellular carcinoma through interaction with AIFM1
PMID: 33129983
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.43Moderate
biliary tract diseaseOpen Targets
0.28Weak
alcohol dependenceOpen Targets
0.28Weak
preeclampsiaOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
hypertensionOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.04Suggestive
osteonecrosisOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.02Suggestive
treatment-resistant hypertensionOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
Melnick-Needles syndromeOpen Targets
0.00Suggestive
Pathogenic Variants2
NM_002453.3(MTIF2):c.573C>G (p.His191Gln)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2014β†’ Residue 191
NM_002453.3(MTIF2):c.899_909del (p.Val300fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2014β†’ Residue 300
View on ClinVar β†—
Related Genes
MRPS6Protein interaction100%MRPS9Protein interaction100%MRPL36Protein interaction100%MRPS16Protein interaction100%MRPS11Protein interaction100%MRPS12Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
61%
Brain
46%
Bone Marrow
33%
Lung
33%
Ovary
25%
Gene Interaction Network
Click a node to explore
MTIF2MRPS6MRPS9MRPL36MRPS16MRPS11MRPS12
PROTEIN STRUCTURE
Preparing viewer…
PDB8QRN Β· 2.98 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.67–1.02]
RankingsWhere MTIF2 stands among ~20K protein-coding genes
  • #8,458of 20,598
    Most Researched53
  • #4,427of 5,498
    Most Pathogenic Variants2
  • #9,988of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedMTIF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The human mitochondrial translation initiation factor 2 gene (MTIF2): transcriptional analysis and identification of a pseudogene.
PMID: 12932832
Biochim Biophys Acta Β· 2003
1.00
2
Choreography of human mitochondrial leaderless mRNA translation initiation.
PMID: 40672251
bioRxiv Β· 2025
0.90
3
Mitochondrial mRNA translation initiation contributes to oxidative metabolism in the myocardia of aged, obese mice.
PMID: 30928679
Exp Gerontol Β· 2019
0.80
4
Distinct pre-initiation steps in human mitochondrial translation.
PMID: 32522994
Nat Commun Β· 2020
0.70
5
Translation initiation of leaderless and polycistronic transcripts in mammalian mitochondria.
PMID: 36629253
Nucleic Acids Res Β· 2023
0.60