MTG2

mitochondrial ribosome associated GTPase 2

Basic information

Region (hg38): 20:62183028-62203568

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.

• not_specified (82 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. These statistics are base on transcript: NM_000015666.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			72	10		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	12	0

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