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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Mpv17 ± 2 cM)

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

Human ortholog

MPV17 MpV17 mitochondrial inner membrane protein NCBI Gene ID 4358
Human Synonyms: MTDPS6, SYM1
Human Chr2:27532360-27545969 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human MPV17 (1)

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 to 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 Model	OTTMUSG00000022466 (Evidence)
Ensembl Gene Model	ENSMUSG00000090262 (Evidence)
Entrez Gene	17527 (Evidence)
UniGene	435472
DFCI	TC1579920, TC1666106
DoTS	DT.101380347, DT.50315621, DT.97351369
Consensus CDS Project	CCDS19175.1
International Mouse Knockout Project Status	Mpv17

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022466	VEGA Gene Model | MGI Sequence Detail	17494	C57BL/6J
transcript	OTTMUST00000053742	VEGA | MGI Sequence Detail	1472	Not Applicable
polypeptide	OTTMUSP00000044509	VEGA | MGI Sequence Detail	191	Not Applicable

All sequences(65) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(37 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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