MFN2

mitofusin 2

Tier: Gold Standard Ciliary Genes

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

References: PMID:24876927

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).

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