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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
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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)

Genotypes

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

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