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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:31140663-31154251 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.12 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    46 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97138
protein coding gene Chr5:31140654-31154251 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029412
protein coding gene Chr5:29126227-29140931 (-)
A/J MGP_AJ_G0029378
protein coding gene Chr5:28167081-28182821 (-)
AKR/J MGP_AKRJ_G0021746
protein coding gene Chr15:36212449-36214513 (-)
BALB/cJ MGP_BALBcJ_G0029389
protein coding gene Chr5:28684702-28698772 (-)
C3H/HeJ MGP_C3HHeJ_G0029110
protein coding gene Chr5:29331336-29345793 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029842
protein coding gene Chr5:30930319-30945293 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027080
protein coding gene Chr5:25634016-25647014 (-)
CAST/EiJ MGP_CASTEiJ_G0028520
protein coding gene Chr5:28417760-28433710 (-)
CBA/J MGP_CBAJ_G0029078
protein coding gene Chr5:31495042-31513859 (-)
DBA/2J MGP_DBA2J_G0029227
protein coding gene Chr5:28347053-28361194 (-)
FVB/NJ MGP_FVBNJ_G0029185
protein coding gene Chr5:27761054-27776664 (-)
LP/J MGP_LPJ_G0029312
protein coding gene Chr5:29579298-29595630 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029214
protein coding gene Chr5:32362572-32385000 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029876
protein coding gene Chr5:28832300-28849199 (-)
PWK/PhJ MGP_PWKPhJ_G0028245
protein coding gene Chr5:27469924-27483428 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028075
protein coding gene Chr5:28208764-28233970 (-)
WSB/EiJ MGP_WSBEiJ_G0028601
protein coding gene Chr5:28894505-28912740 (-)



Homology
more
  • Human Ortholog
    MPV17, mitochondrial inner membrane protein MPV17
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MPV17, mitochondrial inner membrane protein MPV17
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MTDPS6, SYM1
  • Links
    NCBI Gene ID: 4358
    neXtProt AC: NX_P39210
    UniProt: P39210

  • Chr Location
    2p23.3; chr2:27309492-27323102 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
      
IDs
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
less
  • Phenotype Summary
    68 phenotypes from 1 allele in 1 genetic background
    41 phenotype references
Phenotype Overview

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

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    2
  • Endonuclease-mediated
    1
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Transgenic
    1
  • Genomic Mutations
    5 involving Mpv17
  • Find Mice (IMSR)
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 17527 NCBI Gene Model | MGI Sequence Detail 13589 C57BL/6J ±  kb
transcript NM_001294324 RefSeq | MGI Sequence Detail 1744 C57BL/6  
polypeptide P19258 UniProt | EBI | MGI Sequence Detail 176 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    6 Sequences
  • InterPro Domains
    IPR007248 Mpv17/PMP22
Molecular
Reagents
less
  • All nucleic 56
    Genomic 7
    cDNA 49

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-12532, MGD-MRK-15057
References
more
  • Summaries
    All 70
    Developmental Gene Expression 1
    Diseases 5
    Gene Ontology 11
    Phenotypes 41
  • Earliest
    J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
  • Latest
    J:254689 Moss CF, et al., Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model. Nucleic Acids Res. 2017 Dec 15;45(22):12808-12815

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
12/11/2018
MGI 6.13
The Jackson Laboratory