• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MFN2 (HGNC:16877) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mitofusin 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CPRP1, KIAA0214, MARF, CMT2A2
%HI
12.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.28(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:12040501-12073565 NCBI Ensembl UCSC
GRCh38/hg38: chr1:11980444-12013508 NCBI Ensembl UCSC
MANE Select Transcript
NM_014874.4 ENST00000235329.10 (Read more about MANE Select)
Function
Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15533
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/02/2017

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Variants in MFN2 have been associated with Charcot-Marie-Tooth disease Type 2A and hereditary motor and sensory neuropathy type VI. Per GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1511/), the mechanism of disease is currently unknown. Most of the known pathogenic variants associated with these conditions are missense, though a few frameshift and nonsense variants have been reported. For example, Verhoeven et al. (2006) (PMID:16714318) reported two nonsense variants (one of which was observed in two unrelated individuals) and one small in-frame deletion. Of note, the nonsense variant observed in two different individuals was in the last exon of the gene. Additionally, there have been reports of CMT Type 2A being inherited in an autosomal recessive manner, with individuals having one nonsense or exonic deletion and one known pathogenic missense variant in trans (see PMIDs 26114802, 26306937). In Piscosquito et al. 2015 (PMID: 26306937), the authors propose that haploinsufficiency of MFN2 alone is not sufficient to cause disease, but may contribute to disease when inherited with another functionally altered MFN2 allele.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)