MPV17L2

protein-coding

MPV17 mitochondrial inner membrane protein like 2

Gene summary

Enables mitochondrial large ribosomal subunit binding activity. Involved in mitochondrial ribosome assembly and positive regulation of mitochondrial translation. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032683.3

Inheritance

—

ClinVar variants

U:36

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr19:18,193,218-18,196,948

External References & Databases

Ensembl (ENSG00000254858)

Transcript & Mutation Effects

hg38 • Region Span ~3.7 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 MPV17L2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 28

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032683.3. 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						0
missense			30 clinvar			30
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	36	0	0	36

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032683.3	RefSeq	NP_116072.2	5	MANE Select
ENST00000599612.3	Ensembl	ENSP00000469836.2	5	MANE Select
ENST00000865126.1	Ensembl	ENSP00000535185.1	4	Standard
ENST00000865126.2	Ensembl	ENSP00000535185.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Peroxisome - Homo sapiens (human)

Biological Process

mitochondrial ribosome assembly
positive regulation of mitochondrial translation

Cellular Component

cytoplasm
mitochondrial inner membrane
mitochondrial large ribosomal subunit
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000599612
Coding exons: 5
Length: 3767
Individuals with no LoFs: 124753
Homozygous LoFs: 0
Heterozygous LoFs: 47
Defined: 124800
p: 0.000188

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.334	103	113	0.912	0.00000597	1271
Missense (PolyPhen)		26	40.84	0.63663		467
Synonymous	1.38	39	51.6	0.756	0.00000276	442
Loss of Function	0.276	10	11.0	0.910	5.70e-7	104

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00041	0.00039	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00028	0.00028	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0.00073	0.00072	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607). {ECO:0000269|PubMed:24948607}.;

Intolerance Scores

LoFtool: 0.591
RVIS EVS: 0.04
RVIS percentile EVS: 56.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.372

Gene Damage Prediction

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