MPV17 Gene (Protein Coding)

Mitochondrial Inner Membrane Protein MPV17

GC02M027309
GIFtS:
42
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 RefSeq, Jul 2008] See more...

Aliases for MPV17 Gene

Aliases for MPV17 Gene

  • Mitochondrial Inner Membrane Protein MPV17 2 3 5
  • Protein Mpv17 3 4
  • Mpv17, Human Homolog Of Glomerulosclerosis And Nephrotic Syndrome 3
  • MpV17 Transgene, Murine Homolog, Glomerulosclerosis 2
  • MPV17, Mitochondrial Inner Membrane Protein 3
  • MpV17 Mitochondrial Inner Membrane Protein 3
  • Glomerulosclerosis 2
  • CMT2EE 3
  • MTDPS6 3
  • SYM1 3

External Ids for MPV17 Gene

Previous GeneCards Identifiers for MPV17 Gene

  • GC02M027453
  • GC02M027624
  • GC02M027506
  • GC02M027444
  • GC02M027385
  • GC02M027532
  • GC02M027277

Summaries for MPV17 Gene

Entrez Gene Summary for MPV17 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 RefSeq, Jul 2008]

GeneCards Summary for MPV17 Gene

MPV17 (Mitochondrial Inner Membrane Protein MPV17) is a Protein Coding gene. Diseases associated with MPV17 include Mitochondrial Dna Depletion Syndrome 6 and Charcot-Marie-Tooth Disease, Axonal, Type 2Ee. Among its related pathways are Peroxisome. An important paralog of this gene is PXMP2.

UniProtKB/Swiss-Prot Summary for MPV17 Gene

  • Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.

Gene Wiki entry for MPV17 Gene

Additional gene information for MPV17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPV17 Gene

Genomics for MPV17 Gene

GeneHancer (GH) Regulatory Elements for MPV17 Gene

Promoters and enhancers for MPV17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPV17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPV17 gene promoter:
  • c-Rel
  • C/EBPalpha
  • GATA-1
  • GATA-2
  • GATA-3
  • Max
  • p53
  • Roaz
  • Sp1

Genomic Locations for MPV17 Gene

Genomic Locations for MPV17 Gene
chr2:27,309,490-27,325,680
(GRCh38/hg38)
Size:
16,191 bases
Orientation:
Minus strand
chr2:27,532,360-27,548,547
(GRCh37/hg19)
Size:
16,188 bases
Orientation:
Minus strand

Genomic View for MPV17 Gene

Genes around MPV17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPV17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPV17 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MPV17 Gene

Proteins for MPV17 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MPV17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P39210-MPV17_HUMAN
    Recommended name:
    Protein Mpv17
    Protein Accession:
    P39210
    Secondary Accessions:
    • D6W555
    • Q53SY2
    • Q96B08

    Protein attributes for MPV17 Gene

    Size:
    176 amino acids
    Molecular mass:
    19733 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MPV17 Gene

Protein Expression for MPV17 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MPV17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPV17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MPV17 Gene

Domains & Families for MPV17 Gene

Gene Families for MPV17 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for MPV17 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MPV17 Gene

GenScript: Design optimal peptide antigens:
  • MpV17 transgene, murine homolog, glomerulosclerosis, isoform CRA_a (D6W556_HUMAN)
  • Protein Mpv17 (MPV17_HUMAN)
  • Mpv17 protein (Q9UPC7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P39210

UniProtKB/Swiss-Prot:

MPV17_HUMAN :
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
Family:
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
genes like me logo Genes that share domains with MPV17: view

Function for MPV17 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for MPV17 Gene

UniProtKB/Swiss-Prot Function:
Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.
GENATLAS Biochemistry:
mouse glomerulosclerosis gene Mpv17,homolog,peroxisomal,located in the 5'utr region of the UCN gene

Phenotypes From GWAS Catalog for MPV17 Gene

Gene Ontology (GO) - Molecular Function for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with MPV17: view
genes like me logo Genes that share phenotypes with MPV17: view

Human Phenotype Ontology for MPV17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MPV17 Gene

miRTarBase miRNAs that target MPV17

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MPV17 Gene

Localization for MPV17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPV17 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPV17 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 4
nucleus 1
plasma membrane 0
extracellular 0

Gene Ontology (GO) - Cellular Components for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IDA 16582910
GO:0005743 mitochondrial inner membrane IDA,IEA 16582910
GO:0005777 peroxisome NAS 7957077
GO:0005778 peroxisomal membrane TAS --
genes like me logo Genes that share ontologies with MPV17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MPV17 Gene

Pathways & Interactions for MPV17 Gene

PathCards logo

SuperPathways for MPV17 Gene

SuperPathway Contained pathways
1 Peroxisome
Peroxisome
-
genes like me logo Genes that share pathways with MPV17: view

Pathways by source for MPV17 Gene

1 KEGG pathway for MPV17 Gene

Gene Ontology (GO) - Biological Process for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IMP 16582910
GO:0006625 protein targeting to peroxisome TAS --
GO:0032836 glomerular basement membrane development ISS --
GO:0034614 cellular response to reactive oxygen species ISS --
GO:0042592 homeostatic process IMP 16582910
genes like me logo Genes that share ontologies with MPV17: view

No data available for SIGNOR curated interactions for MPV17 Gene

Drugs & Compounds for MPV17 Gene

Products:

  1. Drug

(1) Drugs for MPV17 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MPV17: view

Transcripts for MPV17 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MPV17 Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(379) Selected AceView cDNA sequences:
(23) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPV17 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - -
SP12: -
SP13: - -
SP14: -
SP15: -

Relevant External Links for MPV17 Gene

GeneLoc Exon Structure for
MPV17
ECgene alternative splicing isoforms for
MPV17

Expression for MPV17 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPV17 Gene

mRNA expression in normal human tissues for MPV17 Gene
mRNA expression by GTEx for MPV17 GenemRNA expression by BioGPS for MPV17 Gene

Protein differential expression in normal tissues from HIPED for MPV17 Gene

This gene is overexpressed in Frontal cortex (6.5) and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MPV17 Gene



Protein tissue co-expression partners for MPV17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MPV17 Gene:

MPV17

SOURCE GeneReport for Unigene cluster for MPV17 Gene:

Hs.75659

mRNA Expression by UniProt/SwissProt for MPV17 Gene:

P39210-MPV17_HUMAN
Tissue specificity: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.

Evidence on tissue expression from TISSUES for MPV17 Gene

  • Liver(4.4)
  • Skin(4.3)
  • Nervous system(3.7)
  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPV17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • salivary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MPV17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MPV17 Gene

Orthologs for MPV17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPV17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MPV17 33 32
  • 99.57 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MPV17 33 32
  • 90.72 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MPV17 33 32
  • 90.53 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mpv17l 32
  • 90.34 (n)
mouse
(Mus musculus)
 Mammalia Mpv17 17 33 32
  • 89.77 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia MPV17 33
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MPV17 33
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MPV17 33 32
  • 72.12 (n)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii mpv17 33 32
  • 66.09 (n)
 OneToOne
-- 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001778 32
  • 53.45 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG11077 33
  • 36 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea T18D3.9 33 32
  • 42.83 (n)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR120C 32
  • 43.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SYM1 35 33 32
  • 42.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F22924g 32
  • 40.56 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT3G24570 32
  • 47.06 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0228300 32
  • 47.62 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU02117 32
  • 51.03 (n)
Species where no ortholog for MPV17 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MPV17 Gene

ENSEMBL:
Gene Tree for MPV17 (if available)
TreeFam:
Gene Tree for MPV17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPV17: view image

Paralogs for MPV17 Gene

Paralogs for MPV17 Gene

(3) SIMAP similar genes for MPV17 Gene using alignment to 14 proteins:

  • MPV17_HUMAN
  • A8MPV4_HUMAN
  • A8MTD3_HUMAN
  • B5MC10_HUMAN
  • B5MC53_HUMAN
  • B5MCF8_HUMAN
  • C9J473_HUMAN
  • D6W556_HUMAN
  • E7EX18_HUMAN
  • F8WEL3_HUMAN
  • G5E9F5_HUMAN
  • H0Y6M5_HUMAN
  • H0Y7B6_HUMAN
  • Q9UPC7_HUMAN
genes like me logo Genes that share paralogs with MPV17: view

Variants for MPV17 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MPV17 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057524366 likely-pathogenic, conflicting-interpretations-of-pathogenicity, Navajo neurohepatopathy, not provided 27,312,684(-) T/C/G coding_sequence_variant, missense_variant
rs1064793178 likely-pathogenic, not provided, Navajo neurohepatopathy 27,312,494(-) C/G/T coding_sequence_variant, synonymous_variant
rs112170670 uncertain-significance, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome, hepatocerebral form, not provided 27,312,496(-) G/A coding_sequence_variant, missense_variant
rs113055360 pathogenic, Navajo neurohepatopathy 27,312,248(-) T/C/G splice_acceptor_variant
rs121909721 pathogenic, Navajo neurohepatopathy, not provided, Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810] 27,313,031(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MPV17 Gene

Variant ID Type Subtype PubMed ID
nsv2654 CNV insertion 18451855
nsv833614 CNV gain 17160897

Variation tolerance for MPV17 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPV17 Gene

Human Gene Mutation Database (HGMD)
MPV17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPV17

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPV17 Gene

Disorders for MPV17 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MPV17 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MPV17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPV17_HUMAN
  • Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]: A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. {ECO:0000269 PubMed:16582907, ECO:0000269 PubMed:16582910, ECO:0000269 PubMed:16909392, ECO:0000269 PubMed:20074988, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MPV17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPV17: view

No data available for Genatlas for MPV17 Gene

Publications for MPV17 Gene

  1. The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. (PMID: 8281143) Karasawa M … Weiher H (Human molecular genetics 1993) 2 3 4 23 56
  2. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. (PMID: 16582910) Spinazzola A … Zeviani M (Nature genetics 2006) 2 3 4 56
  3. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PMID: 20843780) Wang W … Scharfe C (Nucleic acids research 2011) 3 4 56
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  5. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. (PMID: 20074988) El-Hattab AW … Wong LJ (Molecular genetics and metabolism 2010) 3 4 56

ExternalLinks

View latest publications for MPV17 gene in Mastermind

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