MTG2 (mitochondrial ribosome associated GTPase 2)

Gene

• Entrez ID: 26164
• Gene name: Mitochondrial ribosome associated GTPase 2
• Gene symbol: MTG2
• Synonyms (NCBI Gene): GTPBP5, ObgH1, dJ1005F21.2
• Chromosome: 20
• Chromosome location: 20q13.33
• 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 [PubMe

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039204	hsa-miR-769-5p	CLASH	23622248
MIRT645839	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT645838	hsa-miR-6824-5p	HITS-CLIP	23824327
MIRT645837	hsa-miR-6789-5p	HITS-CLIP	23824327
MIRT645836	hsa-miR-4278	HITS-CLIP	23824327
MIRT645835	hsa-miR-3115	HITS-CLIP	23824327
MIRT645839	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT645838	hsa-miR-6824-5p	HITS-CLIP	23824327
MIRT645837	hsa-miR-6789-5p	HITS-CLIP	23824327
MIRT645836	hsa-miR-4278	HITS-CLIP	23824327
MIRT645835	hsa-miR-3115	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	23396448
GO:0003924	Function	GTPase activity	IEA
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	23396448
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	32652011
GO:0005759	Component	Mitochondrial matrix	IDA	23396448
GO:0005761	Component	Mitochondrial ribosome	IDA	23396448
GO:0006417	Process	Regulation of translation	IEA
GO:0016020	Component	Membrane	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0044065	Process	Regulation of respiratory system process	IMP	23396448
GO:0046872	Function	Metal ion binding	IEA
GO:0070129	Process	Regulation of mitochondrial translation	IMP	23396448
GO:1902775	Process	Mitochondrial large ribosomal subunit assembly	IMP	32652011

Other IDs

• MIM: 610919
• HGNC: 16239
• e!Ensembl: ENSG00000101181

Protein

• UniProt ID: Q9H4K7
• Protein name: Mitochondrial ribosome-associated GTPase 2 (GTP-binding protein 5) (Protein obg homolog 1) (ObgH1)
• Protein function: Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process.
• PDB: 7O9K, 7ODT, 7OF5, 7OF7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01018	GTP1_OBG	73 → 223	GTP1/OBG	Domain
  PF01926	MMR_HSR1	226 → 346	50S ribosome-binding GTPase	Family

• Sequence:

  MAPARCFSARLRTVFQGVGHWALSTWAGLKPSRLLPQRASPRLLSVGRADLAKHQELPGK
  KLLSEKKLKRYFVDYRRVLVCGGNGGAGASCFHSEPRKEFGGPDGGDGGNGGHVILRVDQ
  QVKSLSSVLSRYQGFSGEDGGSKNCFGRSGAVLYIRVPVGTLVKEGGRVVADLSCVGDEY
  IAALGGAGGKGNRFFLANNNRAPVTCTPGQPGQQRVLHLELKTVAHAGMVGFPNAGKSSL
  LRAISNARPAVASYPFTTLKPHVGIVHYEGHLQIAVADIPGIIRGAHQNRGLGSAFLRHI
  ERCRFLLFVVDLSQPEPWTQVDDLKYELEMYEKGLSARPHAIVANKIDLPEAQANLSQLR
  DHLGQEVIVLSALTGENLEQLLLHLKVLYDAYAEAELGQGRQPLRW

• Sequence length: 406

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Capillary Malformation Arteriovenous Malformation	Associate	21608104	★☆☆☆☆ Found in Text Mining only
Esophageal Fistula	Associate	21608104	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	35320117	★☆☆☆☆ Found in Text Mining only