MTG2

mitochondrial ribosome associated GTPase 2

Basic information

Region (hg38): 20:62183027-62203568

Previous symbols: [ "GTPBP5" ]

Links

ENSG00000101181 ∙ NCBI:26164 ∙ OMIM:610919 ∙ HGNC:16239 ∙ Uniprot:Q9H4K7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTG2 gene.

• Inborn genetic diseases (29 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTG2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	4	0

Variants in MTG2

This is a list of pathogenic ClinVar variants found in the MTG2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-62193460-G-A		not specified	Uncertain significance (Jan 31, 2022)
20-62193484-G-T		not specified	Uncertain significance (Jan 16, 2024)
20-62193525-G-T			Likely benign (Sep 01, 2022)
20-62193566-C-T		not specified	Uncertain significance (Dec 20, 2022)
20-62193570-C-G		not specified	Uncertain significance (Feb 28, 2024)
20-62193581-A-G		not specified	Likely benign (Jan 29, 2024)
20-62193585-G-T		not specified	Uncertain significance (Jan 05, 2022)
20-62193586-G-A		not specified	Uncertain significance (Jan 05, 2022)
20-62195821-A-C		not specified	Uncertain significance (Oct 05, 2023)
20-62195823-C-T		not specified	Uncertain significance (Jul 15, 2021)
20-62195824-G-A		not specified	Uncertain significance (Jul 08, 2022)
20-62195850-G-A		not specified	Uncertain significance (Feb 28, 2023)
20-62195887-G-C		not specified	Uncertain significance (Sep 27, 2021)
20-62195920-G-A		not specified	Uncertain significance (Jan 05, 2022)
20-62195940-A-C		not specified	Uncertain significance (May 10, 2022)
20-62197890-C-T		not specified	Uncertain significance (Jun 11, 2021)
20-62197905-A-G		not specified	Uncertain significance (Feb 26, 2024)
20-62197941-C-T		not specified	Uncertain significance (Aug 14, 2023)
20-62197944-A-G		not specified	Likely benign (Feb 11, 2022)
20-62197953-G-A		not specified	Uncertain significance (Jul 14, 2022)
20-62198640-G-A		not specified	Uncertain significance (Oct 14, 2023)
20-62198681-C-G		not specified	Uncertain significance (Aug 08, 2023)
20-62198698-A-T		not specified	Uncertain significance (Jun 18, 2021)
20-62198713-C-T		not specified	Uncertain significance (Aug 09, 2021)
20-62198802-C-G		not specified	Uncertain significance (Jun 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTG2	protein_coding	protein_coding	ENST00000370823	6	20540

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000331	0.952	125293	0	455	125748	0.00181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.318	259	274	0.946	0.0000189	2567
Missense in Polyphen		107	115.15	0.92926		1125
Synonymous	-0.216	139	136	1.02	0.0000110	891
Loss of Function	1.77	8	15.5	0.515	8.42e-7	171

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00116	0.00116
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0110	0.0110
European (Non-Finnish)	0.00157	0.00157
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:17054726, ECO:0000269|PubMed:23396448}.

Recessive Scores

• pRec: 0.0867

Intolerance Scores

• rvis_EVS: 0.54
• rvis_percentile_EVS: 81.07

Haploinsufficiency Scores

• pHI: 0.0694
• hipred: N
• hipred_score: 0.251
• ghis: 0.532

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: E

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mtg2

Gene ontology

• Biological process: ribosome biogenesis;regulation of respiratory system process;regulation of mitochondrial translation
• Cellular component: mitochondrial inner membrane;mitochondrial matrix;mitochondrial ribosome
• Molecular function: magnesium ion binding;GTPase activity;GTP binding