MFN2

mitofusin 2

Ensembl:
ENSG00000116688
UniProt:
O95140
OMIM:
608507
Synonyms:
CMT2A2, CPRP1, KIAA0214, MARF

Cilia effects upon perturbation of MFN2

Loss-of-function effect:
Abnormal / altered cilia structure

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.10) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, abnormal gait, decreased lean body mass

Subcellular localization

cytosol, flagella, mitochondria

Functional category

  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Reproduction & sperm
  • Cardiac & muscle development

Function

MFN2 and MNS1 co-localized to the sperm flagellum in freshly collected cauda epididymal sperm and MFN2 associated with the midpiece of sperm (24876927).

Model organism evidence

Mus musculus (2 references)

Despite the unique mitochondrial organization in sperm flagella, the biological requirement in sperm development and functions remain undefined.

Mitochondrial fusion protein MFN2 interacts with the mitostatin-related protein MNS1 required for mouse sperm flagellar structure and function.

PMIDs: 34948301, 24876927

Drosophila (1 reference)

Estrogen related receptor is required for the testicular development and for the normal sperm axoneme/mitochondrial derivatives in Drosophila males.

PMIDs: 28094344