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    MTIF2 mitochondrial translational initiation factor 2 [ Homo sapiens (human) ]

    Gene ID: 4528, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MTIF2provided by HGNC
    Official Full Name
    mitochondrial translational initiation factor 2provided by HGNC
    Primary source
    HGNC:HGNC:7441
    See related
    Ensembl:ENSG00000085760 MIM:603766; AllianceGenome:HGNC:7441
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in colon (RPKM 8.3), thyroid (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTIF2 in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55236595..55269248, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55233823..55266465, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55463731..55496384, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene clathrin heavy chain linker domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15778 Neighboring gene CDPF1 pseudogene 1 Neighboring gene ribosomal protein S27a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55496405-55497228 Neighboring gene Sharpr-MPRA regulatory regions 8685 and 822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55508487-55509380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55509381-55510272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516372-55516872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516873-55517373 Neighboring gene Sharpr-MPRA regulatory region 7699 Neighboring gene prolyl-tRNA synthetase associated domain containing 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:55530138-55530638 Neighboring gene coiled-coil domain containing 88A Neighboring gene uncharacterized LOC124907768

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Assignment1 of the mitochondrial translational initiation factor 2 gene (MTIF2) to human chromosome 2 bands p16-->p14 by in situ hybridization and with somatic cell hybrids. Bonner DS, et al. Cytogenet Cell Genet, 1998. PMID 9925935
    2. MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance. Xu D, et al. Pharmacol Res, 2021 Jan. PMID 33129983
    3. Cloning and sequence analysis of the human mitochondrial translational initiation factor 2 cDNA. Ma L, et al. J Biol Chem, 1995 Jan 27. PMID 7829522
    4. Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. Gelernter J, et al. Mol Psychiatry, 2014 Jan. PMID 24166409, Free PMC Article
    5. The human mitochondrial translation initiation factor 2 gene (MTIF2): transcriptional analysis and identification of a pseudogene. Overman RG Jr, et al. Biochim Biophys Acta, 2003 Aug 25. PMID 12932832

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance.
      Title: MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance.
    2. This study identified a novel GWS association (1.17 x 10(-10)) mapped to chromosome 2 at rs1437396, between MTIF2 and CCDC88A, across all of the EA and AA cohorts.
      Title: Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    nucleocapsid gag HIV-1 NC downregulates mitochondrial translational initiation factor 2 in HEK 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables ribosomal small subunit binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables translation factor activity, RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables translation initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translational initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial translational initiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of translational initiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in ribosome disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    translation initiation factor IF-2, mitochondrial
    Names
    IF-2mt

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047062.1 RefSeqGene

      Range
      5073..37709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005369.1 → NP_001005369.1  translation initiation factor IF-2, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001005369.1

      Status: REVIEWED

      Source sequence(s)
      AF494407, BC002667, BC064977, BU684812
      Consensus CDS
      CCDS1853.1
      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    2. NM_001321001.1 → NP_001307930.1  translation initiation factor IF-2, mitochondrial isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC012358, AF494407, BU681583, CB961193
      Consensus CDS
      CCDS1853.1
      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    3. NM_001321002.1 → NP_001307931.1  translation initiation factor IF-2, mitochondrial isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC012358, AF494407, BP282053, BU681583, CB961193
      Consensus CDS
      CCDS1853.1
      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    4. NM_001321003.1 → NP_001307932.1  translation initiation factor IF-2, mitochondrial isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC012358, AF494407, BC067352, BU681583, CB961193
      Consensus CDS
      CCDS1853.1
      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    5. NM_001321004.1 → NP_001307933.1  translation initiation factor IF-2, mitochondrial isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC012358, AF494407, BU681583, CB961193, DB478758
      Consensus CDS
      CCDS1853.1
      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    6. NM_001321005.1 → NP_001307934.1  translation initiation factor IF-2, mitochondrial isoform b

      Status: REVIEWED

      Source sequence(s)
      AC012358, AF494407, BU681583, CB961193
      UniProtKB/Swiss-Prot
      P46199
      Conserved Domains (4) summary
      pfam11987
      Location:272 → 363
      IF-2; Translation-initiation factor 2
      cd03692
      Location:381 → 468
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:111 → 205
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2
      cl21455
      Location:1 → 102
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. NM_002453.3 → NP_002444.2  translation initiation factor IF-2, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_002444.2

      Status: REVIEWED

      Source sequence(s)
      AC012358, AF494407, BC064977, BU684812, CB961193
      Consensus CDS
      CCDS1853.1
      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Related
      ENSP00000263629.4, ENST00000263629.9
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      55236595..55269248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444424.1 → XP_047300380.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    2. XM_047444427.1 → XP_047300383.1  translation initiation factor IF-2, mitochondrial isoform X2

    3. XM_047444423.1 → XP_047300379.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    4. XM_047444431.1 → XP_047300387.1  translation initiation factor IF-2, mitochondrial isoform X2

    5. XM_011532871.3 → XP_011531173.1  translation initiation factor IF-2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011531173.1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Related
      ENSP00000384481.1, ENST00000403721.5
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    6. XM_047444425.1 → XP_047300381.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    7. XM_047444428.1 → XP_047300384.1  translation initiation factor IF-2, mitochondrial isoform X2

    8. XM_047444429.1 → XP_047300385.1  translation initiation factor IF-2, mitochondrial isoform X2

    9. XM_017004162.3 → XP_016859651.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    10. XM_017004164.3 → XP_016859653.1  translation initiation factor IF-2, mitochondrial isoform X2

    11. XM_047444426.1 → XP_047300382.1  translation initiation factor IF-2, mitochondrial isoform X2

    12. XM_047444430.1 → XP_047300386.1  translation initiation factor IF-2, mitochondrial isoform X2

    13. XM_017004163.2 → XP_016859652.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199
      Conserved Domains (5) summary
      cd01887
      Location:181 → 345
      IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
      COG0532
      Location:176 → 718
      InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
      pfam11987
      Location:515 → 606
      IF-2; Translation-initiation factor 2
      cd03692
      Location:624 → 711
      mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
      cd03702
      Location:354 → 448
      IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

    14. XM_047444432.1 → XP_047300388.1  translation initiation factor IF-2, mitochondrial isoform X3

    15. XM_047444433.1 → XP_047300389.1  translation initiation factor IF-2, mitochondrial isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      55233823..55266465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342148.1 → XP_054198123.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    2. XM_054342153.1 → XP_054198128.1  translation initiation factor IF-2, mitochondrial isoform X2

    3. XM_054342145.1 → XP_054198120.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    4. XM_054342157.1 → XP_054198132.1  translation initiation factor IF-2, mitochondrial isoform X2

    5. XM_054342146.1 → XP_054198121.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    6. XM_054342149.1 → XP_054198124.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    7. XM_054342154.1 → XP_054198129.1  translation initiation factor IF-2, mitochondrial isoform X2

    8. XM_054342155.1 → XP_054198130.1  translation initiation factor IF-2, mitochondrial isoform X2

    9. XM_054342147.1 → XP_054198122.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    10. XM_054342151.1 → XP_054198126.1  translation initiation factor IF-2, mitochondrial isoform X2

    11. XM_054342152.1 → XP_054198127.1  translation initiation factor IF-2, mitochondrial isoform X2

    12. XM_054342156.1 → XP_054198131.1  translation initiation factor IF-2, mitochondrial isoform X2

    13. XM_054342150.1 → XP_054198125.1  translation initiation factor IF-2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      D6W5D0, P46199

    14. XM_054342158.1 → XP_054198133.1  translation initiation factor IF-2, mitochondrial isoform X3

    15. XM_054342159.1 → XP_054198134.1  translation initiation factor IF-2, mitochondrial isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P46199.2 GenPept UniProtKB/Swiss-Prot:P46199

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