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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
Chr5:31140660-31158153 bp, - strand
From VEGA annotation of GRCm38

  17494 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

Protein SuperFamily: mitocondrial membrane protein, Mpv17/PMP22
Gene Tree: Mpv17

Human
homologs
Human Homolog MPV17, MpV17 mitochondrial inner membrane protein
NCBI Gene ID 4358
neXtProt AC  NX_P39210
Human Synonyms  MTDPS6, SYM1
Human Chr (Location)  2p23.3; chr2:27309492-27323102 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human MPV17
Alleles
and
phenotypes
All alleles(9) : Gene trapped(8) Transgenic(1)
 
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 Using Mouse Mpv17 (3)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process cellular response to reactive oxygen species, glomerular basement membrane development, ...
Component integral component of membrane, membrane, ...
External Resources: FuncBase
Expression
cDNA source data(46)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(54) Genomic(7) cDNA(47)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000022466 (Evidence)
Ensembl Gene ModelENSMUSG00000090262 (Evidence)
Entrez Gene17527 (Evidence)
UniGene435472
DFCITC1579920, TC1666106
DoTSDT.101380347, DT.50315621, DT.97351369
Consensus CDS ProjectCCDS19175.1
International Mouse Knockout Project StatusMpv17
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022466 VEGA Gene Model | MGI Sequence Detail 17494 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(15) UniProt(7)
Polymorphisms SNPs within 2kb(53 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007248 Mpv17/PMP22
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:166909 Papeta N, et al., Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice. J Clin Invest. 2010 Nov 1;120(11):4055-64
All references(45)
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
04/08/2014
MGI 5.17
The Jackson Laboratory