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    MTG2 mitochondrial ribosome associated GTPase 2 [ Homo sapiens (human) ]

    Gene ID: 26164, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MTG2provided by HGNC
    Official Full Name
    mitochondrial ribosome associated GTPase 2provided by HGNC
    Primary source
    HGNC:HGNC:16239
    See related
    Ensembl:ENSG00000101181 MIM:610919; AllianceGenome:HGNC:16239
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ObgH1; GTPBP5; dJ1005F21.2
    Summary
    Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.6), skin (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTG2 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62183028..62203568)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (63973904..63994443)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (60758084..60778624)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13101 Neighboring gene proteasome 20S subunit alpha 7 Neighboring gene Sharpr-MPRA regulatory region 1753 Neighboring gene SS18L1 subunit of BAF chromatin remodeling complex Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:60735092-60736291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60736587-60737199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13102 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:60757942-60758126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60789379-60789879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13104 Neighboring gene histamine receptor H3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60803162-60804062 Neighboring gene uncharacterized LOC105369209

    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. De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. Solomon BD, et al. Birth Defects Res A Clin Mol Teratol, 2011 Sep. PMID 21608104, Free PMC Article
    2. Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly. Cipullo M, et al. Nucleic Acids Res, 2021 Jan 11. PMID 33283228, Free PMC Article
    3. Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation. Maiti P, et al. Nucleic Acids Res, 2020 Aug 20. PMID 32652011, Free PMC Article
    4. Human small G proteins, ObgH1, and ObgH2, participate in the maintenance of mitochondria and nucleolar architectures. Hirano Y, et al. Genes Cells, 2006 Nov. PMID 17054726
    5. Human G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexes. Kotani T, et al. Nucleic Acids Res, 2013 Apr 1. PMID 23396448, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly.
      Title: Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly.
    2. Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation.
      Title: Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation.
    3. The results suggested that ObgH1 functions with the large subunit of the mitochondrial ribosome, and are involved in both the translation and assembly of respiratory complexes.
      Title: Human G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexes.
    4. GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations.
      Title: De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. Knock-down of ObgH1 by RNAi induced mitochondria elongation, whereas knock-down of ObgH2 resulted in the disorganization of the nucleolar architecture.
      Title: Human small G proteins, ObgH1, and ObgH2, participate in the maintenance of mitochondria and nucleolar architectures.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10741, MGC29512

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of respiratory system process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial ribosome-associated GTPase 2
    Names
    GTP binding protein 5 (putative)
    GTP-binding protein 5
    protein obg homolog 1

    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.

    mRNA and Protein(s)

    1. NM_001384347.1 → NP_001371276.1  mitochondrial ribosome-associated GTPase 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL078633
      Conserved Domains (1) summary
      TIGR02729
      Location:90 → 403
      Obg_CgtA; Obg family GTPase CgtA

    2. NM_001384348.1 → NP_001371277.1  mitochondrial ribosome-associated GTPase 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL078633
      Conserved Domains (1) summary
      TIGR02729
      Location:72 → 271
      Obg_CgtA; Obg family GTPase CgtA

    3. NM_015666.4 → NP_056481.1  mitochondrial ribosome-associated GTPase 2 isoform 2

      See identical proteins and their annotated locations for NP_056481.1

      Status: VALIDATED

      Source sequence(s)
      AL078633
      Consensus CDS
      CCDS13492.1
      UniProtKB/Swiss-Prot
      A6NDR3, B4DR85, Q96I17, Q9H4K7, Q9NVG9, Q9UFR4
      Related
      ENSP00000359859.3, ENST00000370823.8
      Conserved Domains (1) summary
      TIGR02729
      Location:72 → 385
      Obg_CgtA; Obg family GTPase CgtA

    RNA

    1. NR_169197.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    2. NR_169198.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633
      Related
      ENST00000467101.5

    3. NR_169199.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    4. NR_169200.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    5. NR_169201.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    6. NR_169202.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    7. NR_169203.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    8. NR_169204.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    9. NR_169205.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    10. NR_169206.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    11. NR_169207.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    12. NR_169208.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    13. NR_169209.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    14. NR_169210.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL078633

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      62183028..62203568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440103.1 → XP_047296059.1  mitochondrial ribosome-associated GTPase 2 isoform X3

      UniProtKB/Swiss-Prot
      A6NDR3, B4DR85, Q96I17, Q9H4K7, Q9NVG9, Q9UFR4

    2. XM_024451869.2 → XP_024307637.1  mitochondrial ribosome-associated GTPase 2 isoform X2

      Conserved Domains (1) summary
      TIGR02729
      Location:88 → 401
      Obg_CgtA; Obg family GTPase CgtA

    3. XM_017027805.2 → XP_016883294.1  mitochondrial ribosome-associated GTPase 2 isoform X1

    4. XM_047440104.1 → XP_047296060.1  mitochondrial ribosome-associated GTPase 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      63973904..63994443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323351.1 → XP_054179326.1  mitochondrial ribosome-associated GTPase 2 isoform X3

      UniProtKB/Swiss-Prot
      A6NDR3, B4DR85, Q96I17, Q9H4K7, Q9NVG9, Q9UFR4

    2. XM_054323350.1 → XP_054179325.1  mitochondrial ribosome-associated GTPase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4K7.1 GenPept UniProtKB/Swiss-Prot:Q9H4K7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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