Gene Gene information from NCBI Gene database.
Entrez ID 9927
Gene name Mitofusin 2
Gene symbol MFN2
Synonyms (NCBI Gene)
CMT2ACMT2A2CMT2A2ACMT2A2BCPRP1HMSN6AHSGMARFMSL
Chromosome 1
Chromosome location 1p36.22
Summary This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell prolifera
SNPs SNP information provided by dbSNP.
92
SNP ID Visualize variation Clinical significance Consequence
rs28940291 G>A,C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs28940292 G>C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs28940293 T>C,G Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs28940294 G>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs28940295 C>G,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
667
miRTarBase ID miRNA Experiments Reference
MIRT023877 hsa-miR-1-3p Proteomics 18668040
MIRT031906 hsa-miR-16-5p Proteomics 18668040
MIRT049714 hsa-miR-92a-3p CLASH 23622248
MIRT048771 hsa-miR-93-5p CLASH 23622248
MIRT047398 hsa-miR-34a-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARGC1A Activation 17828388
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001825 Process Blastocyst formation IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 16936636, 17121834, 19052620, 23620051, 24282027, 25008184, 27059175, 28514442, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608507 16877 ENSG00000116688
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95140
Protein name Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN2)
Protein function Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:19889647, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is dete
PDB 6JFK , 6JFL , 6JFM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 99 259 Dynamin family Domain
PF04799 Fzo_mitofusin 594 754 fzo-like conserved region Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; expressed at low level. Highly expressed in heart and kidney. {ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12759376}.
Sequence
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
FHKVSERLSRPNIFILNNR
WDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQ
PSR
Sequence length 757
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal
NOD-like receptor signaling pathway
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Pink/Parkin Mediated Mitophagy
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1827
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
;Charcot-Marie-Tooth disease type 2A2 Likely pathogenic; Pathogenic rs28940292 RCV000763240
;Hereditary motor and sensory neuropathy with optic atrophy Pathogenic rs119103268 RCV000515385
Auditory neuropathy Likely pathogenic rs2523037228 RCV003484473
Cerebellar ataxia Likely pathogenic; Pathogenic rs863224069 RCV001090177
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
;Multiple symmetric lipomatosis Uncertain significance rs369140232 RCV003483693
;Neuropathy, hereditary motor and sensory, type 6A Benign; Likely benign; Conflicting classifications of pathogenicity rs142271930, rs41278630, rs536007087, rs756693072 RCV002492476
RCV002492791
RCV002506074
RCV005409796
Acute myeloid leukemia Benign; Likely benign rs41278632 RCV005890944
Cervical cancer Benign; Likely benign rs41278632 RCV005890947
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36877954
Alcoholic Neuropathy Associate 21987543, 24803844, 28063088, 28414270, 29341354, 30642740, 35418194
Alzheimer Disease Associate 24252614, 33998543
Asthenozoospermia Associate 30058380
Ataxia Associate 32532879, 38274408
Autism Spectrum Disorder Associate 23333625, 31018497
Bipolar Disorder Inhibit 28463235
Blindness Associate 38274408
Brain Diseases Associate 21987543
Breast Neoplasms Associate 30932749, 31535669