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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4358
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial inner membrane protein MPV17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MPV17
Synonyms (NCBI Gene) Gene synonyms aliases	CMT2EE, MTDPS6, SYM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CMT2EE, MTDPS6
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000002	Process	Mitochondrial genome maintenance	IMP	16582910
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	16582910
GO:0005743	Component	Mitochondrial inner membrane	IDA	16582910
GO:0005777	Component	Peroxisome	IDA	16582910
GO:0005777	Component	Peroxisome	NAS	7957077
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0015267	Function	Channel activity	IMP	25861990
GO:0016021	Component	Integral component of 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	IMP	26760297
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	ISS

MIM	HGNC	e!Ensembl
137960	7224	ENSG00000115204

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	18695062
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Liver failure	Liver Failure, Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)	18695062
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Source
Unknown
Cirrhosis	Cirrhosis	ClinVar
Distal amyotrophy	Distal amyotrophy	ClinVar
Peripheral axonal neuropathy	Peripheral axonal neuropathy	ClinVar
Ptosis	Blepharoptosis	ClinVar
Cardiomyopathic Mitochondrial DNA Depletion Syndrome	mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GenCC
Mitochondrial Diseases	mitochondrial disease	GenCC
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth disease, axonal, type 2EE	GenCC

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text Mining
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)