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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:31298007-31311595 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 17.12 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    366 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97138
 protein coding gene Chr5:31297998-31311595 (-)
129S1/SvImJ ENSMUSG00200014075
 protein coding gene Chr5:26797745-26811321 (-)
A/J ENSMUSG00195047149
 protein coding gene Chr5:26244846-26258442 (-)
AKR/J ENSMUSG00220007379
 protein coding gene Chr5:26258949-26272525 (-)
BALB/cJ ENSMUSG00180034283
 protein coding gene Chr5:26049413-26063005 (-)
C3H/HeJ ENSMUSG00175038069
 protein coding gene Chr5:28023727-28037318 (-)
C57BL/6NJ ENSMUSG00215039196
 protein coding gene Chr5:26761085-26774686 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027080
 protein coding gene Chr5:25634016-25647014 (-)
CAST/EiJ ENSTCUG00005019020
 protein coding gene Chr5:26222854-26236075 (-)
CBA/J ENSMUSG00210037841
 protein coding gene Chr5:26996891-27010479 (-)
DBA/2J ENSMUSG00185034760
 protein coding gene Chr5:28852339-28865932 (-)
FVB/NJ ENSMUSG00205038314
 protein coding gene Chr5:25748322-25761919 (-)
JF1/MsJ ENSUMUG00000049903
 protein coding gene Chr5:33394521-33407757 (-)
LP/J ENSMUSG00230044242
 protein coding gene Chr5:33468171-33481739 (-)
NOD/ShiLtJ ENSMUSG00190012608
 protein coding gene Chr5:26049554-26063147 (-)
NZO/HlLtJ ENSMUSG00225018050
 protein coding gene Chr5:38676864-38690673 (-)
PWK/PhJ ENSLUMG00010041282
 protein coding gene Chr5:26141419-26154639 (-)
SPRET/EiJ ENSMSPG00010036580
 protein coding gene Chr5:27306668-27319662 (-)
WSB/EiJ ENSIUOG00005035076
 protein coding gene Chr5:28940764-28954343 (-)



Homology
more
  • Human Ortholog
    MPV17, mitochondrial inner membrane protein MPV17
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MPV17, mitochondrial inner membrane protein MPV17
  • Synonyms
    CMT2EE, MTDPS6, SYM1
  • Links
    NCBI Gene ID: 4358
    UniProt: P39210

  • Chr Location
    2p23.3; chr2:27309486-27325680 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Mpv17 mouse models; 2 with human MPV17 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
      
IDs
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
    74 phenotypes from 2 alleles in 2 genetic backgrounds
    48 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
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    22
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    597
  • cDNA Data
    48
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    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 83
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 12
      Phenotypes 48
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory