MPV17L2

Summary

MPV17L2 (MPV17 mitochondrial inner membrane protein like 2, HGNC:28177) is a protein-coding gene on chromosome 19p13.11, encoding Mpv17-like protein 2 (Q567V2). Required for the assembly and stability of the mitochondrial ribosome.

Enables mitochondrial large ribosomal subunit binding activity. Involved in mitochondrial ribosome assembly and positive regulation of mitochondrial translation. Located in mitochondrial inner membrane.

Source: NCBI Gene 84769 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_032683

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28177
Approved symbol	MPV17L2
Name	MPV17 mitochondrial inner membrane protein like 2
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	FKSG24, MGC12972
Ensembl gene	ENSG00000254858
Ensembl biotype	protein_coding
OMIM	616133
Entrez	84769

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 retained_intron, 2 protein_coding

ENST00000532896, ENST00000533807, ENST00000534421, ENST00000599612, ENST00000865126

RefSeq mRNA: 1 — MANE Select: NM_032683 NM_032683

CCDS: CCDS42522

Canonical transcript exons

ENST00000599612 — 5 exons

Exon	Start	End
ENSE00001708975	18193864	18194034
ENSE00003054328	18194958	18195086
ENSE00003108280	18193218	18193468
ENSE00003521556	18194777	18194853
ENSE00003695568	18195999	18196948

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 87.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.6566 / max 97.9368, expressed in 1786 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174624	14.3300	1772
174623	4.3266	1628

Top tissues by expression

243 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	87.02	gold quality
right adrenal gland	UBERON:0001233	86.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.54	gold quality
left adrenal gland	UBERON:0001234	86.11	gold quality
left adrenal gland cortex	UBERON:0035825	86.09	gold quality
apex of heart	UBERON:0002098	85.98	gold quality
mucosa of transverse colon	UBERON:0004991	85.63	gold quality
heart left ventricle	UBERON:0002084	84.04	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.89	gold quality
lower esophagus	UBERON:0013473	83.86	gold quality
adrenal cortex	UBERON:0001235	83.72	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.38	gold quality
cardiac ventricle	UBERON:0002082	83.35	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.89	gold quality
tibialis anterior	UBERON:0001385	82.83	silver quality
adrenal gland	UBERON:0002369	82.68	gold quality
granulocyte	CL:0000094	82.60	gold quality
gastrocnemius	UBERON:0001388	82.42	gold quality
body of stomach	UBERON:0001161	82.36	gold quality
right lobe of liver	UBERON:0001114	82.29	gold quality
left ventricle myocardium	UBERON:0006566	82.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.15	gold quality
ileal mucosa	UBERON:0000331	82.12	gold quality
mucosa of stomach	UBERON:0001199	82.01	gold quality
cardiac muscle of right atrium	UBERON:0003379	82.00	gold quality
right atrium auricular region	UBERON:0006631	81.77	gold quality
muscle of leg	UBERON:0001383	81.53	gold quality
adenohypophysis	UBERON:0002196	81.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.33	gold quality
left uterine tube	UBERON:0001303	81.33	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting MPV17L2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-3976	96.67	67.79	1187
HSA-MIR-4264	96.35	64.76	1480
HSA-MIR-431-5P	96.16	66.50	652
HSA-MIR-6734-5P	95.70	65.56	950
HSA-MIR-6753-5P	94.70	64.08	470
HSA-MIR-1203	92.38	65.62	48

Literature-anchored findings (GeneRIF, showing 2)

• The findings suggest MPV17L2 contributes to the biogenesis of the mitochondrial ribosome, uniting the two subunits to create the translationally competent monosome. (PMID:24948607)
• Bioengineered miR-34a modulates mitochondrial inner membrane protein 17 like 2 (MPV17L2) expression toward the control of cancer cell mitochondrial functions. (PMID:35579419)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpv17l2	ENSDARG00000056367
mus_musculus	Mpv17l2	ENSMUSG00000035559
rattus_norvegicus	Mpv17l2	ENSRNOG00000019394
drosophila_melanogaster	CG1662	FBGN0030481
drosophila_melanogaster	CG5906	FBGN0036217
caenorhabditis_elegans		WBGENE00022744

Paralogs (3): MPV17 (ENSG00000115204), MPV17L (ENSG00000156968), PXMP2 (ENSG00000176894)

Protein

Protein identifiers

Mpv17-like protein 2 — Q567V2 (reviewed: Q567V2)

All UniProt accessions (1): Q567V2

UniProt curated annotations — full annotation on UniProt →

Function. Required for the assembly and stability of the mitochondrial ribosome. Is a positive regulator of mitochondrial protein synthesis.

Subunit / interactions. Interacts with the large mitochondrial ribosomal subunit.

Subcellular location. Membrane. Mitochondrion inner membrane.

Similarity. Belongs to the peroxisomal membrane protein PXMP2/4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q567V2-1	1	yes
Q567V2-2	2

RefSeq proteins (1): NP_116072* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007248	Mpv17_PMP22	Family

Pfam: PF04117

UniProt features (8 total): transmembrane region 3, sequence conflict 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q567V2-F1	88.10	0.67

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_RIBOSOME_ASSEMBLY, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANELLE_ASSEMBLY, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_TRANSLATION, GOBP_REGULATION_OF_TRANSLATION, GOCC_ORGANELLE_INNER_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, chr19p13, GOMF_RIBONUCLEOPROTEIN_COMPLEX_BINDING, GOMF_RIBOSOME_BINDING

GO Biological Process (2): mitochondrial ribosome assembly (GO:0061668), positive regulation of mitochondrial translation (GO:0070131)

GO Molecular Function (1): mitochondrial large ribosomal subunit binding (GO:0140978)

GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
ribosome assembly	1
mitochondrial translation	1
positive regulation of translation	1
regulation of mitochondrial translation	1
ribosomal large subunit binding	1
mitochondrial ribosome binding	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1

Protein interactions and networks

STRING

882 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPV17L2	MTERF3	Q96E29	625
MPV17L2	DDX28	Q9NUL7	608
MPV17L2	MALSU1	Q96EH3	577
MPV17L2	FASTKD2	Q9NYY8	567
MPV17L2	MRPS18B	Q9Y676	561
MPV17L2	NSUN4	Q96CB9	556
MPV17L2	MRM1	Q6IN84	542
MPV17L2	MTERF4	Q7Z6M4	537
MPV17L2	GRSF1	Q12849	535
MPV17L2	METTL15	A6NJ78	532
MPV17L2	MRPL45	Q9BRJ2	515
MPV17L2	MRM3	Q9HC36	507
MPV17L2	ERAL1	O75616	500
MPV17L2	MRPS22	P82650	490
MPV17L2	MRPL48	Q96GC5	489

IntAct

8 interactions, top by confidence:

A	B	Type	Score
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
FECH	POTEF	psi-mi:“MI:0914”(association)	0.350
HADHA	AP3B1	psi-mi:“MI:0914”(association)	0.350
SDC1	TCAF2	psi-mi:“MI:0914”(association)	0.350
CTNNA1	KIF2A	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): MPV17L2 (Affinity Capture-MS), MPV17L2 (Affinity Capture-MS), MPV17L2 (Affinity Capture-MS), MPV17L2 (Affinity Capture-MS), MPV17L2 (Affinity Capture-RNA), MPV17L2 (Affinity Capture-MS), MPV17L2 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q2HW92, A1A5B4, A2ADF7, A5D787, A6NFX1, A6NGC4, D3ZVU9, F1PZV2, O96011, P19258, Q04671, Q13286, Q148K5, Q3T0A0, Q3T9M1, Q3U481, Q3UGX3, Q501J2, Q567V2, Q5BK62, Q5JZQ7, Q5R9A1, Q5RFI0, Q5U419, Q5ZJX0, Q60HH0, Q66GV0, Q6DGV7, Q6NUT3, Q6UXD7, Q6ZMD2, Q7Z403, Q8BMT9, Q8CE47, Q8CHK3, Q8TB61, Q8TBR7, Q8TCT7, Q8VC74, Q8VIK2

Diamond homologs: A5D787, O14142, Q10244, Q2KIK2, Q2KIN6, Q2QL34, Q4IPX8, Q4WDZ0, Q54FR4, Q54GD8, Q54XX9, Q567V2, Q68F62, Q6BMY0, Q6CAW5, Q6DGV7, Q6DIY8, Q6FXJ3, Q754F0, Q7SCY7, Q8VIK2, Q99MS3, Q9V492, P0CQ38, P0CQ39, P19258, P39210, P42925, Q06563, Q07066, Q08743, Q2KIY1, Q2TXA2, Q4P9K6, Q59Q43, Q5BK62, Q60SZ2, Q66GV0, Q6CIY7, Q5TZ51

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

42 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

733 predictions. Top by Δscore:

Variant	Effect	Δscore
19:18194036:T:A	donor_loss	1.0000
19:18194767:T:TA	acceptor_gain	1.0000
19:18194773:CCA:C	acceptor_loss	1.0000
19:18194774:CA:C	acceptor_loss	1.0000
19:18194775:A:AG	acceptor_gain	1.0000
19:18194775:A:G	acceptor_loss	1.0000
19:18194775:AG:A	acceptor_gain	1.0000
19:18194776:G:GT	acceptor_gain	1.0000
19:18194776:GG:G	acceptor_gain	1.0000
19:18194776:GGC:G	acceptor_gain	1.0000
19:18194776:GGCC:G	acceptor_gain	1.0000
19:18194776:GGCCT:G	acceptor_gain	1.0000
19:18194851:AAGGT:A	donor_loss	1.0000
19:18194852:AG:A	donor_loss	1.0000
19:18194853:GG:G	donor_loss	1.0000
19:18194952:CCGCA:C	acceptor_loss	1.0000
19:18194953:CGCAG:C	acceptor_loss	1.0000
19:18194954:GCAGG:G	acceptor_loss	1.0000
19:18194955:CAG:C	acceptor_loss	1.0000
19:18194956:A:AG	acceptor_gain	1.0000
19:18194956:A:C	acceptor_loss	1.0000
19:18194957:G:A	acceptor_loss	1.0000
19:18194957:G:GA	acceptor_gain	1.0000
19:18194957:GGC:G	acceptor_gain	1.0000
19:18194957:GGCA:G	acceptor_gain	1.0000
19:18195077:G:GT	donor_gain	1.0000
19:18195083:CCGGG:C	donor_loss	1.0000
19:18195085:GG:G	donor_gain	1.0000
19:18195086:GG:G	donor_gain	1.0000
19:18195087:G:GG	donor_gain	1.0000

AlphaMissense

1304 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:18193887:A:C	S71R	0.996
19:18193889:C:A	S71R	0.996
19:18193889:C:G	S71R	0.996
19:18194996:C:A	N158K	0.991
19:18194996:C:G	N158K	0.991
19:18194997:T:C	F159L	0.990
19:18194999:C:A	F159L	0.990
19:18194999:C:G	F159L	0.990
19:18193884:T:C	C70R	0.987
19:18194998:T:C	F159S	0.985
19:18193382:G:A	G34D	0.984
19:18195052:G:A	G177D	0.983
19:18195063:T:G	Y181D	0.982
19:18193893:G:C	G73R	0.981
19:18195054:T:A	W178R	0.979
19:18195054:T:C	W178R	0.979
19:18195007:T:A	V162E	0.978
19:18195051:G:C	G177R	0.978
19:18193403:A:T	D41V	0.977
19:18194998:T:G	F159C	0.977
19:18195030:T:G	Y170D	0.977
19:18195056:G:C	W178C	0.977
19:18195056:G:T	W178C	0.977
19:18194964:T:A	W148R	0.976
19:18194964:T:C	W148R	0.976
19:18194973:T:A	W151R	0.976
19:18194973:T:C	W151R	0.976
19:18194975:G:C	W151C	0.976
19:18194975:G:T	W151C	0.976
19:18193402:G:C	D41H	0.975

dbSNP variants (sampled 300 via entrez): RS1000263460 (19:18195850 G>A,C,T), RS1000830764 (19:18194419 G>A,T), RS1001621223 (19:18196433 A>C), RS1003323562 (19:18192545 G>A), RS1003330573 (19:18192894 G>A,C), RS1003639795 (19:18192743 G>A), RS1004790143 (19:18192577 G>T), RS1006255039 (19:18191390 G>A), RS1006345684 (19:18196675 A>C,G), RS1006346607 (19:18191257 C>A,T), RS1006804562 (19:18193017 G>A), RS1007194981 (19:18197110 G>A), RS1007311034 (19:18196909 G>GA,GC,GT), RS1007323515 (19:18191725 G>A,C), RS1008221213 (19:18191791 AGGC>A)

Disease associations

OMIM: gene MIM:616133 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001198_50	Multiple sclerosis	1.000000e-08
GCST007483_15	Waist-to-hip ratio adjusted for BMI (additive genetic model)	1.000000e-10
GCST007487_21	Waist-to-hip ratio adjusted for BMI (additive genetic model)	3.000000e-10
GCST007500_25	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-11
GCST007502_19	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-11
GCST90011900_160	Serum alkaline phosphatase levels	1.000000e-13
GCST90020024_532	A body shape index	2.000000e-09
GCST90020025_1423	Waist-to-hip ratio adjusted for BMI	1.000000e-10
GCST90020027_135	Waist-hip index	4.000000e-11
GCST90020029_20	Waist circumference adjusted for body mass index	9.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004533	alkaline phosphatase measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Lead	affects expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Tunicamycin	increases expression	1
Valproic Acid	increases expression	1
Okadaic Acid	increases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.