MTG2

protein-coding

mitochondrial ribosome associated GTPase 2

Gene 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]

Previous symbols:

GTPBP5

MANE transcript

NM_015666.4

Inheritance

—

ClinVar variants

U:85B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr20:62,183,028-62,203,568

External References & Databases

Ensembl (ENSG00000101181)

Transcript & Mutation Effects

hg38 • Region Span ~20.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MTG2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015666.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			85 clinvar	10 clinvar		95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	85	13	0	98

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015666.4	RefSeq	NP_056481.1	6	MANE Select
ENST00000370823.8	Ensembl	ENSP00000359859.3	6	MANE Select
NM_001384347.1	RefSeq	NP_001371276.1	6	Standard
NM_001384348.1	RefSeq	NP_001371277.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ribosome biogenesis
regulation of respiratory system process
regulation of mitochondrial translation

Molecular Function

magnesium ion binding
GTPase activity
GTP binding

Cellular Component

mitochondrial inner membrane
mitochondrial matrix
mitochondrial ribosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370823
Coding exons: 6
Length: 20540
Individuals with no LoFs: 125293
Homozygous LoFs: 0
Heterozygous LoFs: 455
Defined: 125748
p: 0.00181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.318	259	274	0.946	0.0000189	2567
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00072	0.00072	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.011	0.011	notable
European (Non-Finnish)	0.0016	0.0016	notable
South Asian	0.00013	0.00013	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): E
Essential (gene trap): E

Gene Damage Prediction

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