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Mpv17
Gene Detail
Symbol

Name
ID
Mpv17
MpV17 mitochondrial inner membrane protein
MGI:97138
Synonyms
Tg.Mpv17
Feature Type
protein coding gene
Genetic Map
Chromosome 5
17.12 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:31140660-31154251 bp, - strand
From VEGA annotation of GRCm38

  13592 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:39746  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: MPV17
Protein SuperFamily: mitocondrial membrane protein, Mpv17/PMP22
Gene Tree: Mpv17

Human
homologs
MPV17, MpV17 mitochondrial inner membrane protein
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4358
neXtProt AC: NX_P39210

Human Synonyms: MTDPS6, SYM1

Human Chr (Location): 2p23.3; chr2:27309490-27325680 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MPV17

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Radiation induced(3) Transgenic(1)
Genomic Mutations involving Mpv17 (3)
 
Mice homozygous for mutations in this gene develop symptoms of kidney failure similar to focal segmental glomerulosclerosis due to depletion of mitochondrial content. Inner ear degeneration is also seen.
 
Human Diseases Modeled in Mice Using Mpv17 (3)    Mutations Annotated to Human Diseases (2)    Phenotype Images(4)
Interactions
Mpv17 interacts with 151 markers (Mir18, Mir18b, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process homeostatic process, mitochondrial genome maintenance, ...
Component mitochondrial inner membrane, mitochondrion, ...
External Resources: FuncBase
Expression
cDNA source data(47)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100125162 ; ZFIN mpv17    NEW 
Molecular
reagents
All nucleic(55) Genomic(7) cDNA(48)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000022466 (Evidence)
Ensembl Gene Model ENSMUSG00000090262 (Evidence)
Entrez Gene 17527 (Evidence)
UniGene 435472
DFCI TC1579920, TC1613366, TC1625624, TC1666106
DoTS DT.101159194, DT.101380345, DT.101380347, DT.110647560, DT.110647764, DT.50315621, DT.97351369
Consensus CDS Project CCDS19175.1
International Mouse Phenotyping Consortium Status Mpv17
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022466 VEGA Gene Model | MGI Sequence Detail 13592 C57BL/6J ±  kb
transcript OTTMUST00000053742 VEGA | MGI Sequence Detail 1472 Not Applicable 
polypeptide OTTMUSP00000044509 VEGA | MGI Sequence Detail 191 Not Applicable 

For the selected sequences
All sequences(78) RefSeq(12)
Polymorphisms
SNPs within 2kb(45 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000010551 protein Mpv17
References
(Earliest) J:10661 Weiher H, et al., Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. Cell. 1990 Aug 10;62(3):425-34
(Latest) J:210519 Casalena G, et al., Mpv17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro. Am J Physiol Renal Physiol. 2014 Jun 1;306(11):F1372-80
All references(40)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-12532, MGD-MRK-15057

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory