Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4358
Gene name	Mitochondrial inner membrane protein MPV17
Gene symbol	MPV17
Synonyms (NCBI Gene)	CMT2EEMTDPS6SYM1
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by

Show/Hide all (42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35759430	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs113055360	T>C,G	Pathogenic	Splice acceptor variant
rs121909721	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909723	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909724	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs138199394	A>G	Pathogenic	Splice donor variant
rs140992482	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs142493907	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant
rs147952488	A>G	Pathogenic	Splice donor variant
rs200504529	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs200938111	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs267607256	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607257	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs267607258	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs267607261	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs267607263	TTC>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs267607264	ACA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs267607266	G>-,GG	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs267607268	C>T	Pathogenic	Intron variant
rs367838807	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs368900406	A>C	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs375401970	G>C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs397507438	TGGTGTTCCTGCAGACCCCGCCTCTC>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs749361266	C>T	Likely-pathogenic	Splice donor variant
rs754051090	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs755624411	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766160589	C>-,CC	Pathogenic	Splice acceptor variant, coding sequence variant
rs772370243	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs777604559	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs863224072	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs863224074	G>A	Pathogenic	Coding sequence variant, stop gained
rs886044113	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886044280	C>G	Pathogenic	Splice acceptor variant
rs1057524366	T>C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1064793178	C>G,T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1423840146	C>T	Pathogenic	Splice acceptor variant
rs1553383467	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553383480	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1572542092	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1572542511	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1572543564	C>A	Pathogenic	Splice donor variant
rs1572555080	C>G	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant

154

Show/Hide all (154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023393	hsa-miR-122-5p	Microarray	17612493
MIRT030312	hsa-miR-26b-5p	Microarray	19088304
MIRT046366	hsa-miR-23b-3p	CLASH	23622248
MIRT045337	hsa-miR-185-5p	CLASH	23622248
MIRT1156970	hsa-miR-1207-5p	CLIP-seq
MIRT1156971	hsa-miR-122	CLIP-seq
MIRT1156972	hsa-miR-1224-5p	CLIP-seq
MIRT1156973	hsa-miR-1255a	CLIP-seq
MIRT1156974	hsa-miR-1255b	CLIP-seq
MIRT1156975	hsa-miR-1256	CLIP-seq
MIRT1156976	hsa-miR-1276	CLIP-seq
MIRT1156977	hsa-miR-1303	CLIP-seq
MIRT1156978	hsa-miR-1304	CLIP-seq
MIRT1156979	hsa-miR-142-5p	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT1156981	hsa-miR-1909	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156983	hsa-miR-3135b	CLIP-seq
MIRT1156984	hsa-miR-3145-3p	CLIP-seq
MIRT1156985	hsa-miR-3150b-3p	CLIP-seq
MIRT1156986	hsa-miR-3177-5p	CLIP-seq
MIRT1156987	hsa-miR-3184	CLIP-seq
MIRT1156988	hsa-miR-340	CLIP-seq
MIRT1156989	hsa-miR-3909	CLIP-seq
MIRT1156990	hsa-miR-3915	CLIP-seq
MIRT1156991	hsa-miR-3974	CLIP-seq
MIRT1156992	hsa-miR-421	CLIP-seq
MIRT1156993	hsa-miR-423-5p	CLIP-seq
MIRT1156994	hsa-miR-4256	CLIP-seq
MIRT1156995	hsa-miR-4261	CLIP-seq
MIRT1156996	hsa-miR-4274	CLIP-seq
MIRT1156997	hsa-miR-4294	CLIP-seq
MIRT1156998	hsa-miR-4302	CLIP-seq
MIRT1156999	hsa-miR-4311	CLIP-seq
MIRT1157000	hsa-miR-4422	CLIP-seq
MIRT1157001	hsa-miR-4432	CLIP-seq
MIRT1157002	hsa-miR-4450	CLIP-seq
MIRT1157003	hsa-miR-4481	CLIP-seq
MIRT1157004	hsa-miR-4487	CLIP-seq
MIRT1157005	hsa-miR-4497	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT1157007	hsa-miR-4688	CLIP-seq
MIRT1157008	hsa-miR-4689	CLIP-seq
MIRT1157009	hsa-miR-4697-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157011	hsa-miR-4709-5p	CLIP-seq
MIRT1157012	hsa-miR-4711-3p	CLIP-seq
MIRT1157013	hsa-miR-4738-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157015	hsa-miR-4745-5p	CLIP-seq
MIRT1157016	hsa-miR-4758-5p	CLIP-seq
MIRT1157017	hsa-miR-4763-3p	CLIP-seq
MIRT1157018	hsa-miR-4774-5p	CLIP-seq
MIRT1157019	hsa-miR-4784	CLIP-seq
MIRT1157020	hsa-miR-4796-5p	CLIP-seq
MIRT1157021	hsa-miR-4802-5p	CLIP-seq
MIRT1157022	hsa-miR-491-5p	CLIP-seq
MIRT1157023	hsa-miR-493	CLIP-seq
MIRT1157024	hsa-miR-495	CLIP-seq
MIRT1157025	hsa-miR-499-5p	CLIP-seq
MIRT1157026	hsa-miR-515-3p	CLIP-seq
MIRT1157027	hsa-miR-519e	CLIP-seq
MIRT1157028	hsa-miR-582-3p	CLIP-seq
MIRT1157029	hsa-miR-583	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1157031	hsa-miR-802	CLIP-seq
MIRT1157032	hsa-miR-940	CLIP-seq
MIRT1156977	hsa-miR-1303	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT2044988	hsa-miR-299-3p	CLIP-seq
MIRT1156986	hsa-miR-3177-5p	CLIP-seq
MIRT1156996	hsa-miR-4274	CLIP-seq
MIRT1156998	hsa-miR-4302	CLIP-seq
MIRT1157000	hsa-miR-4422	CLIP-seq
MIRT1157001	hsa-miR-4432	CLIP-seq
MIRT2044989	hsa-miR-4491	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT2044990	hsa-miR-4649-3p	CLIP-seq
MIRT2044991	hsa-miR-4657	CLIP-seq
MIRT1157009	hsa-miR-4697-3p	CLIP-seq
MIRT2044992	hsa-miR-4699-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157025	hsa-miR-499-5p	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1156971	hsa-miR-122	CLIP-seq
MIRT1156975	hsa-miR-1256	CLIP-seq
MIRT2044988	hsa-miR-299-3p	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156989	hsa-miR-3909	CLIP-seq
MIRT1157001	hsa-miR-4432	CLIP-seq
MIRT2044989	hsa-miR-4491	CLIP-seq
MIRT2274168	hsa-miR-4540	CLIP-seq
MIRT2044991	hsa-miR-4657	CLIP-seq
MIRT1157021	hsa-miR-4802-5p	CLIP-seq
MIRT1157025	hsa-miR-499-5p	CLIP-seq
MIRT1157026	hsa-miR-515-3p	CLIP-seq
MIRT1157027	hsa-miR-519e	CLIP-seq
MIRT2274169	hsa-miR-541	CLIP-seq
MIRT2274170	hsa-miR-554	CLIP-seq
MIRT2274171	hsa-miR-561	CLIP-seq
MIRT2274172	hsa-miR-654-5p	CLIP-seq
MIRT1156970	hsa-miR-1207-5p	CLIP-seq
MIRT1156976	hsa-miR-1276	CLIP-seq
MIRT1156979	hsa-miR-142-5p	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT2572922	hsa-miR-2682	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156983	hsa-miR-3135b	CLIP-seq
MIRT1156988	hsa-miR-340	CLIP-seq
MIRT1156997	hsa-miR-4294	CLIP-seq
MIRT1156999	hsa-miR-4311	CLIP-seq
MIRT1157003	hsa-miR-4481	CLIP-seq
MIRT1157004	hsa-miR-4487	CLIP-seq
MIRT1157005	hsa-miR-4497	CLIP-seq
MIRT2572923	hsa-miR-449c	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT2572924	hsa-miR-4633-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157012	hsa-miR-4711-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157015	hsa-miR-4745-5p	CLIP-seq
MIRT1157017	hsa-miR-4763-3p	CLIP-seq
MIRT1157020	hsa-miR-4796-5p	CLIP-seq
MIRT1157024	hsa-miR-495	CLIP-seq
MIRT1157029	hsa-miR-583	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1157031	hsa-miR-802	CLIP-seq
MIRT1157032	hsa-miR-940	CLIP-seq
MIRT1156970	hsa-miR-1207-5p	CLIP-seq
MIRT1156976	hsa-miR-1276	CLIP-seq
MIRT1156979	hsa-miR-142-5p	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT2572922	hsa-miR-2682	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156983	hsa-miR-3135b	CLIP-seq
MIRT1156988	hsa-miR-340	CLIP-seq
MIRT1156997	hsa-miR-4294	CLIP-seq
MIRT1156999	hsa-miR-4311	CLIP-seq
MIRT1157004	hsa-miR-4487	CLIP-seq
MIRT1157005	hsa-miR-4497	CLIP-seq
MIRT2572923	hsa-miR-449c	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT2572924	hsa-miR-4633-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157012	hsa-miR-4711-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157017	hsa-miR-4763-3p	CLIP-seq
MIRT1157020	hsa-miR-4796-5p	CLIP-seq
MIRT1157024	hsa-miR-495	CLIP-seq
MIRT1157029	hsa-miR-583	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1157031	hsa-miR-802	CLIP-seq
MIRT1157032	hsa-miR-940	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16582910
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	16582910
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005777	Component	Peroxisome	IDA	16582910
GO:0005777	Component	Peroxisome	NAS	7957077
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0015267	Function	Channel activity	IBA
GO:0015267	Function	Channel activity	IMP	25861990
GO:0016020	Component	Membrane	IEA
GO:0032836	Process	Glomerular basement membrane development	ISS
GO:0034614	Process	Cellular response to reactive oxygen species	ISS
GO:0042592	Process	Homeostatic process	IMP	16582910
GO:0048839	Process	Inner ear development	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:1901858	Process	Regulation of mitochondrial DNA metabolic process	IBA
GO:1901858	Process	Regulation of mitochondrial DNA metabolic process	IMP	26760297
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	ISS

MIM	HGNC	e!Ensembl
137960	7224	ENSG00000115204

P39210

Protein name

Mitochondrial inner membrane protein Mpv17 (Protein Mpv17)

Protein function

Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeost

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04117	Mpv17_PMP22	109 → 170	Mpv17 / PMP22 family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. {ECO:0000269|PubMed:16582910}.

Sequence

MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCG
FVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNW
AKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL

Sequence length

176

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal protein import

259

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease, axonal, type 2EE	Likely pathogenic; Pathogenic	rs763400903, rs2148216335, rs774833271, rs1054997754, rs751134093, rs1469699202, rs2465683526, rs770838975, rs2465681506, rs2465685264, rs863224074, rs777604559, rs766160589, rs2465682200, rs1572542511 View all (24 more)	RCV002499772 RCV003469703 RCV001825317 RCV003471215 RCV003471121 RCV003471224 RCV005023455 RCV002290188 RCV005028319 RCV003465836 RCV004571335 RCV003468891 RCV003468890 RCV003465891 RCV003469248 RCV003470183 RCV003470184 RCV003470185 RCV003470186 RCV003470187 RCV003470188 RCV003470189 RCV003466861 RCV003473105 RCV003466862 RCV004576212 RCV004576213 RCV004576214 RCV003470380 RCV003470524 RCV004568213 RCV003466880 RCV003460535 RCV003466881 RCV003465776 RCV000768420 RCV005025086 RCV004568340 RCV003465670 RCV000768421 RCV005029761 RCV003469449
Mitochondrial disease	Pathogenic	rs121909721	RCV004786268
Mitochondrial DNA depletion syndrome	Pathogenic; Likely pathogenic	rs121909721, rs121909724, rs375401970, rs267607257, rs267607258, rs267607268, rs140992482	RCV002509162 RCV005406748 RCV003401418 RCV003111578 RCV003478980 RCV003331860 RCV003226382
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	Pathogenic; Likely pathogenic	rs121909723, rs375401970, rs267607261, rs267607267, rs140992482	RCV003227464 RCV003227483 RCV003227465 RCV003227466 RCV003227501
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	Likely pathogenic; Pathogenic	rs763400903, rs774833271, rs1469699202, rs770838975, rs2465681506, rs777604559, rs766160589, rs121909721, rs121909722, rs121909723, rs121909724, rs1025721902, rs375401970, rs886044113, rs749361266 View all (23 more)	RCV002499772 RCV001825317 RCV005025513 RCV005023455 RCV005028319 RCV005233021 RCV000660561 RCV005233057 RCV000265576 RCV000017543 RCV000017544 RCV000017545 RCV000017547 RCV003882754 RCV000855706 RCV000625516 RCV000763082 RCV000761497 RCV000017546 RCV000031903 RCV000031904 RCV000031908 RCV000031911 RCV000031912 RCV000031914 RCV000625520 RCV000625519 RCV000625517 RCV000625518 RCV000625514 RCV005029401 RCV002279731 RCV000790422 RCV000853234 RCV000855711 RCV000855704 RCV000855708 RCV000855703 RCV005029761 RCV001268962
Mitochondrial DNA maintenance disorder	Likely pathogenic; Pathogenic	rs267607258	RCV005867802
MPV17-related disorder	Pathogenic; Likely pathogenic	rs770838975, rs121909721, rs267607258, rs138199394, rs140992482	RCV004733604 RCV004732550 RCV000312148 RCV004723149 RCV004733041
MPV17-related mitochondrial DNA maintenance defect	Likely pathogenic; Pathogenic	rs267607261	RCV000735226
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs748500676, rs147952488	RCV005931407 RCV005888841

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mitochondrial DNA depletion syndrome, hepatocerebral form	Likely benign; Uncertain significance	rs2148215542, rs773187260, rs2465680044	RCV005607110 RCV005608742 RCV005608915

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenal Insufficiency	Associate	34035203
Alcoholic Neuropathy	Associate	26437932
Ataxia	Associate	19012992
Brain Diseases	Associate	30509056
Carcinoma Hepatocellular	Stimulate	35919033
Carcinoma Hepatocellular	Associate	37152370
Charcot Marie Tooth Disease	Associate	26437932, 36833258, 39461114
Combined Oxidative Phosphorylation Deficiency 1	Associate	26437932
Death	Associate	30509056, 31664948
Deoxyguanosine Kinase Deficiency	Associate	20042463
Disease	Associate	29282788
Elejalde Disease	Associate	30273399
Failure to Thrive	Associate	29282788, 31664948
Folate Malabsorption Hereditary	Associate	30385507
Growth Disorders	Associate	23714749
Hepatic Encephalopathy	Associate	19012992, 24894789, 30385507
Intracranial Hypertension	Associate	36833258
Jaundice	Associate	31664948
Leukoencephalopathies	Associate	37981684
Liver Diseases	Associate	19012992, 23714749, 27482763, 34979697
Liver Failure	Associate	19012992, 24894789, 25129007, 29282788, 31664948
Liver Failure Acute	Associate	27482763
Metabolic Diseases	Associate	30385507
Muscle Weakness	Associate	31664948
Muscular Diseases	Associate	29282788
Myelodysplastic Syndromes	Associate	22824774, 23714749, 24894789, 30385507
Navajo neurohepatopathy	Associate	16909392, 26437932, 29282788
Neoplasms	Associate	35919033
Nervous System Diseases	Associate	34979697
Neurologic Manifestations	Associate	29282788
Peripheral Nervous System Diseases	Associate	26437932, 29282788, 34979697
Polyneuropathy Lethal Neonatal Axonal Sensorimotor Autosomal Recessive	Associate	26437932
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	29282788
Sleep Initiation and Maintenance Disorders	Associate	29282788
Spastic ataxia Charlevoix Saguenay type	Associate	36833258
Visceral myopathy familial external ophthalmoplegia	Associate	19012992, 22137549, 22824774, 23714749, 25129007, 30273399, 30385507, 30509056, 31664948, 32155188, 32703289, 34979697

MPV17 (mitochondrial inner membrane protein MPV17)