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Mpv17 Gene Detail
Summary
  • Symbol
    Mpv17
  • Name
    MpV17 mitochondrial inner membrane protein
  • Synonyms
    Tg.Mpv17
  • Feature Type
    protein coding gene
  • IDs
    MGI:97138
    NCBI Gene: 17527
  • Gene Overview
    MyGene.info: MPV17
Location & Maps
more
  • Sequence Map
    Chr5:31140654-31154251 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13598 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MPV17, MPV17, mitochondrial inner membrane protein
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MPV17, MPV17, mitochondrial inner membrane protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MTDPS6, SYM1
  • Links
    NCBI Gene ID: 4358
    neXtProt AC: NX_P39210

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

Human Diseases
more
  • Diseases
    3 with Mpv17 mouse models; 1 with human MPV17 associations

Human Disease Mouse Models
       Alport Syndrome, Autosomal Recessive   OMIM: 203780 View 1 model
Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type); MTDPS3   OMIM: 251880 View 1 model
Nephrotic Syndrome, Type 2; NPHS2   OMIM: 600995 View 1 model
       Mitochondrial DNA Depletion Syndrome 6 (hepatocerebral Type); MTDPS6   OMIM: 256810
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    68 phenotypes from 1 allele in 1 genetic background
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    2
  • Endonuclease-mediated
    1
  • Gene trapped
    1
  • Radiation induced
    3
  • Spontaneous
    1
  • Transgenic
    1
  • Genomic Mutations
    6 involving Mpv17
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022466 VEGA Gene Model | MGI Sequence Detail 13598 C57BL/6J ±  kb
transcript OTTMUST00000053748 VEGA | MGI Sequence Detail 903 Not Applicable  
polypeptide OTTMUSP00000025570 VEGA | MGI Sequence Detail 178 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    46 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 55
    Genomic 7
    cDNA 48

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-12532, MGD-MRK-15057
References
more
  • Summaries
    All 42
    Diseases 5
    Gene Ontology 9
    Phenotypes 39
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory