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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
    gene 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
    18
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 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
    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
    neXtProt AC: NX_P39210
    UniProt: P39210

  • Chr Location
    2p23.3; chr2:27309492-27325680 (-)  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
    47 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
    23
  • 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
    706
  • 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 77
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 12
      Phenotypes 47
    • 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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory