About   Help   FAQ
Mfn2 Gene Detail
Summary
  • Symbol
    Mfn2
  • Name
    mitofusin 2
  • Synonyms
    D630023P19Rik, Fzo, hypertension related protein 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442230
    NCBI Gene: 170731
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:147958056-147989161 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.56 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    209 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442230
 protein coding gene Chr4:147958043-147989527 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029109
 protein coding gene Chr4:151551435-151587863 (-)
A/J MGP_AJ_G0029074
 protein coding gene Chr4:145279831-145311435 (-)
AKR/J MGP_AKRJ_G0029022
 protein coding gene Chr4:149241367-149273005 (-)
BALB/cJ MGP_BALBcJ_G0029090
 protein coding gene Chr4:145803079-145834770 (-)
C3H/HeJ MGP_C3HHeJ_G0028811
 protein coding gene Chr4:149799903-149831856 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029539
 protein coding gene Chr4:157077819-157109910 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026785
 protein coding gene Chr4:137709983-137740913 (-)
CAST/EiJ MGP_CASTEiJ_G0028224
 protein coding gene Chr4:146975430-147011009 (-)
CBA/J MGP_CBAJ_G0028773
 protein coding gene Chr4:161593449-161627621 (-)
DBA/2J MGP_DBA2J_G0028921
 protein coding gene Chr4:145388318-145424767 (-)
FVB/NJ MGP_FVBNJ_G0028886
 protein coding gene Chr4:144478180-144509797 (-)
LP/J MGP_LPJ_G0029012
 protein coding gene Chr4:151496719-151534169 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028913
 protein coding gene Chr4:164938687-164973593 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029571
 protein coding gene Chr4:149724373-149755573 (-)
PWK/PhJ MGP_PWKPhJ_G0027944
 protein coding gene Chr4:141375048-141406258 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027778
 protein coding gene Chr4:143982618-144014041 (-)
WSB/EiJ MGP_WSBEiJ_G0028304
 protein coding gene Chr4:149858088-149894005 (-)



Homology
more
  • Human Ortholog
    MFN2, mitofusin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MFN2, mitofusin 2
  • Synonyms
    CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
  • Links
    NCBI Gene ID: 9927
    neXtProt AC: NX_O95140
    UniProt: O95140

  • Chr Location
    1p36.22; chr1:11980181-12015211 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with human MFN2 associations

Human Disease Mouse Models
      
IDs
IDs
 View 1 model
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    74 phenotypes from 8 alleles in 12 genetic backgrounds
    51 phenotypes from multigenic genotypes
    5 images
    89 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 disruptions in this gene die in mid-gestation. Structural and functional abnormalities of mitochondria are reported. Mice homozygous for a conditional allele in male germ cells exhibit small testes with abnormal sperm flagellum, aggregation of mitochondria, and disrupted male meiosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    21
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
non-membrane-bounded 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
    770
  • Tissues
    33
  • cDNA Data
    10
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029020 Ensembl Gene Model | MGI Sequence Detail 31106 C57BL/6J ±  kb
    transcript ENSMUST00000030884 Ensembl | MGI Sequence Detail 4341 Not Applicable  
    polypeptide ENSMUSP00000030884 Ensembl | MGI Sequence Detail 757 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 10
      Primer pair 2
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 187
      Developmental Gene Expression 17
      Diseases 2
      Gene Ontology 21
      Phenotypes 89
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:342938 Franco A, et al., A human mitofusin 2 mutation can cause mitophagic cardiomyopathy. Elife. 2023 Nov 1;12
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory